Full text data of CLNS1A
CLNS1A
(CLCI, ICLN)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Methylosome subunit pICln (Chloride channel, nucleotide sensitive 1A; Chloride conductance regulatory protein ICln; I(Cln); Chloride ion current inducer protein; ClCI; Reticulocyte pICln)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Methylosome subunit pICln (Chloride channel, nucleotide sensitive 1A; Chloride conductance regulatory protein ICln; I(Cln); Chloride ion current inducer protein; ClCI; Reticulocyte pICln)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
hRBCD
IPI00004795
IPI00004795 Methylosome subunit pICln Reticulocyte pICln, May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway. soluble n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a cytoplasmic, nuclear and associated with cytoskeleton n/a expected molecular weight found in band found in band > 188 kDa
IPI00004795 Methylosome subunit pICln Reticulocyte pICln, May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway. soluble n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a cytoplasmic, nuclear and associated with cytoskeleton n/a expected molecular weight found in band found in band > 188 kDa
UniProt
P54105
ID ICLN_HUMAN Reviewed; 237 AA.
AC P54105; B2RCS9; Q0VDK6; Q9NRD2; Q9NRD3;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-OCT-1996, sequence version 1.
DT 22-JAN-2014, entry version 129.
DE RecName: Full=Methylosome subunit pICln;
DE AltName: Full=Chloride channel, nucleotide sensitive 1A;
DE AltName: Full=Chloride conductance regulatory protein ICln;
DE Short=I(Cln);
DE AltName: Full=Chloride ion current inducer protein;
DE Short=ClCI;
DE AltName: Full=Reticulocyte pICln;
GN Name=CLNS1A; Synonyms=CLCI, ICLN;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=8579598; DOI=10.1006/bbrc.1996.0146;
RA Buyse G., de Greef C., Raeymaekers L., Droogmans G., Nilius B.,
RA Eggermont J.;
RT "The ubiquitously expressed pICln protein forms homomeric complexes in
RT vitro.";
RL Biochem. Biophys. Res. Commun. 218:822-827(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Ocular ciliary epithelium;
RX PubMed=7887970; DOI=10.1006/bbrc.1995.1309;
RA Anquita J., Chalfant M.L., Civan M.M., Coca-Prados M.;
RT "Molecular cloning of the human volume-sensitive chloride conductance
RT regulatory protein, pICln, from ocular ciliary epithelium.";
RL Biochem. Biophys. Res. Commun. 208:89-95(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Lamb F.S., Mathews K., Mills K., Barna T., Pruessner J.,
RA Kresnicka L.S., Schutte B.C.;
RT "Colocalization of CLCI and CLCN3 to human 4q32 and mouse 8: the
RT candidate region for tottering (tg).";
RL Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=9359436;
RA Schwartz R.S., Rybicki A.C., Nagel R.L.;
RT "Molecular cloning and expression of a chloride channel-associated
RT protein pI(Cln) in human young red blood cells: association with
RT actin.";
RL Biochem. J. 327:609-616(1997).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Lens epithelium;
RA Rae J.L., Shepard A.R.;
RT "Chloride ion current inducer protein in human lens epithelium.";
RL Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS HIS-20 AND THR-218.
RC TISSUE=Colon cancer, and Kidney;
RX PubMed=10825435; DOI=10.1016/S0005-2736(00)00177-2;
RA Hubert M.D., Levitan I., Hoffman M.M., Zraggen M., Hofreiter M.E.,
RA Garber S.S.;
RT "Modulation of volume regulated anion current by I(Cln).";
RL Biochim. Biophys. Acta 1466:105-114(2000).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Subthalamic nucleus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP PROTEIN SEQUENCE OF 2-43; 86-113 AND 188-237, CLEAVAGE OF INITIATOR
RP METHIONINE, ACETYLATION AT SER-2, PHOSPHORYLATION AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma, and Colon carcinoma;
RA Bienvenut W.V., Calvo F., Zebisch A., Kolch W.;
RL Submitted (OCT-2008) to UniProtKB.
RN [11]
RP PROTEIN SEQUENCE OF 19-113 AND 188-237, PHOSPHORYLATION AT SER-102,
RP AND MASS SPECTROMETRY.
RC TISSUE=Embryonic kidney;
RA Bienvenut W.V., Waridel P., Quadroni M.;
RL Submitted (MAR-2009) to UniProtKB.
RN [12]
RP FUNCTION.
RX PubMed=10330151;
RA Pu W.T., Krapivinsky G.B., Krapivinsky L., Clapham D.E.;
RT "pICln inhibits snRNP biogenesis by binding core spliceosomal
RT proteins.";
RL Mol. Cell. Biol. 19:4113-4120(1999).
RN [13]
RP FUNCTION IN METHYLOSOME.
RX PubMed=11713266; DOI=10.1128/MCB.21.24.8289-8300.2001;
RA Friesen W.J., Paushkin S., Wyce A., Massenet S., Pesiridis G.S.,
RA Van Duyne G., Rappsilber J., Mann M., Dreyfuss G.;
RT "The methylosome, a 20S complex containing JBP1 and pICln, produces
RT dimethylarginine-modified Sm proteins.";
RL Mol. Cell. Biol. 21:8289-8300(2001).
RN [14]
RP INTERACTION WITH LSM10; LSM11 AND SNRPB.
RX PubMed=16087681; DOI=10.1074/jbc.M505077200;
RA Azzouz T.N., Pillai R.S., Dapp C., Chari A., Meister G., Kambach C.,
RA Fischer U., Schuemperli D.;
RT "Toward an assembly line for U7 snRNPs: interactions of U7-specific
RT Lsm proteins with PRMT5 and SMN complexes.";
RL J. Biol. Chem. 280:34435-34440(2005).
RN [15]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,
RA Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in
RT signaling networks.";
RL Cell 127:635-648(2006).
RN [16]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Prostate cancer;
RX PubMed=17487921; DOI=10.1002/elps.200600782;
RA Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S.;
RT "Toward a global characterization of the phosphoproteome in prostate
RT cancer cells: identification of phosphoproteins in the LNCaP cell
RT line.";
RL Electrophoresis 28:2027-2034(2007).
RN [17]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III,
RA Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N.,
RA Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [18]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [19]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102 AND THR-223, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [20]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Liver;
RX PubMed=18318008; DOI=10.1002/pmic.200700884;
RA Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D.,
RA Zou H., Gu J.;
RT "Large-scale phosphoproteome analysis of human liver tissue by
RT enrichment and fractionation of phosphopeptides with strong anion
RT exchange chromatography.";
RL Proteomics 8:1346-1361(2008).
RN [21]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [22]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RX PubMed=19369195; DOI=10.1074/mcp.M800588-MCP200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [23]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [24]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [25]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [26]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [27]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, AND MASS SPECTROMETRY.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- FUNCTION: The interaction with Sm proteins inhibits their assembly
CC on U RNA and interferes with snRNP biogenesis. Inhibits the
CC binding of survival motor neuron protein (SMN) to Sm proteins. May
CC participate in cellular volume control by activation of a
CC swelling-induced chloride conductance pathway.
CC -!- SUBUNIT: Homooligomer. Component of the methylosome, a 20S complex
CC containing SKB1. Interacts with Sm proteins. Interacts with LSM10,
CC LSM11 and SNRPB.
CC -!- INTERACTION:
CC O14744:PRMT5; NbExp=3; IntAct=EBI-724693, EBI-351098;
CC P14678:SNRPB; NbExp=3; IntAct=EBI-724693, EBI-372458;
CC P62314:SNRPD1; NbExp=6; IntAct=EBI-724693, EBI-372177;
CC P62316:SNRPD2; NbExp=5; IntAct=EBI-724693, EBI-297993;
CC P62318:SNRPD3; NbExp=6; IntAct=EBI-724693, EBI-372789;
CC P62306:SNRPF; NbExp=4; IntAct=EBI-724693, EBI-356900;
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton.
CC Note=A small fraction is also associated with the cytoskeleton.
CC -!- SIMILARITY: Belongs to the pICln (TC 1.A.47) family.
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DR EMBL; X91788; CAA62902.1; -; mRNA.
DR EMBL; U17899; AAC50111.1; -; mRNA.
DR EMBL; U53454; AAB03316.1; -; mRNA.
DR EMBL; AF005422; AAB61444.1; -; mRNA.
DR EMBL; AF026003; AAB88806.1; -; mRNA.
DR EMBL; AF232708; AAF76861.1; -; Genomic_DNA.
DR EMBL; AF232224; AAF76858.1; -; Genomic_DNA.
DR EMBL; AF232225; AAF76859.1; -; Genomic_DNA.
DR EMBL; AK315259; BAG37676.1; -; mRNA.
DR EMBL; BT019907; AAV38710.1; -; mRNA.
DR EMBL; BC119634; AAI19635.1; -; mRNA.
DR EMBL; BC119635; AAI19636.1; -; mRNA.
DR PIR; JC4135; JC4135.
DR RefSeq; NP_001284.1; NM_001293.2.
DR RefSeq; XP_005273817.1; XM_005273760.1.
DR UniGene; Hs.430733; -.
DR ProteinModelPortal; P54105; -.
DR SMR; P54105; 18-135.
DR DIP; DIP-44185N; -.
DR IntAct; P54105; 23.
DR MINT; MINT-5002627; -.
DR STRING; 9606.ENSP00000263309; -.
DR TCDB; 1.A.47.1.1; the nucleotide-sensitive anion-selective channel, icln (icln) family.
DR PhosphoSite; P54105; -.
DR DMDM; 1708393; -.
DR PaxDb; P54105; -.
DR PeptideAtlas; P54105; -.
DR PRIDE; P54105; -.
DR DNASU; 1207; -.
DR Ensembl; ENST00000525428; ENSP00000433919; ENSG00000074201.
DR Ensembl; ENST00000528364; ENSP00000434311; ENSG00000074201.
DR GeneID; 1207; -.
DR KEGG; hsa:1207; -.
DR UCSC; uc001oyk.3; human.
DR CTD; 1207; -.
DR GeneCards; GC11M077225; -.
DR HGNC; HGNC:2080; CLNS1A.
DR HPA; CAB017840; -.
DR MIM; 602158; gene.
DR neXtProt; NX_P54105; -.
DR PharmGKB; PA26607; -.
DR eggNOG; NOG316963; -.
DR HOGENOM; HOG000006913; -.
DR HOVERGEN; HBG003108; -.
DR InParanoid; P54105; -.
DR KO; K05019; -.
DR OMA; QYHMAGV; -.
DR OrthoDB; EOG7H1JMG; -.
DR PhylomeDB; P54105; -.
DR Reactome; REACT_21257; Metabolism of RNA.
DR Reactome; REACT_71; Gene Expression.
DR GeneWiki; CLNS1A; -.
DR GenomeRNAi; 1207; -.
DR NextBio; 4973; -.
DR PRO; PR:P54105; -.
DR ArrayExpress; P54105; -.
DR Bgee; P54105; -.
DR CleanEx; HS_CLNS1A; -.
DR Genevestigator; P54105; -.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; TAS:ProtInc.
DR GO; GO:0008015; P:blood circulation; TAS:ProtInc.
DR GO; GO:0006884; P:cell volume homeostasis; IEA:InterPro.
DR GO; GO:0006821; P:chloride transport; IEA:InterPro.
DR GO; GO:0034660; P:ncRNA metabolic process; TAS:Reactome.
DR GO; GO:0000387; P:spliceosomal snRNP assembly; TAS:Reactome.
DR GO; GO:0006810; P:transport; TAS:ProtInc.
DR InterPro; IPR003521; ICln_channel.
DR PANTHER; PTHR21399; PTHR21399; 1.
DR PRINTS; PR01348; ICLNCHANNEL.
PE 1: Evidence at protein level;
KW Acetylation; Complete proteome; Cytoplasm; Cytoskeleton;
KW Direct protein sequencing; Nucleus; Phosphoprotein; Polymorphism;
KW Reference proteome.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 237 Methylosome subunit pICln.
FT /FTId=PRO_0000185155.
FT MOD_RES 2 2 N-acetylserine.
FT MOD_RES 102 102 Phosphoserine.
FT MOD_RES 223 223 Phosphothreonine.
FT VARIANT 20 20 Q -> H.
FT /FTId=VAR_015736.
FT VARIANT 218 218 M -> T.
FT /FTId=VAR_015737.
SQ SEQUENCE 237 AA; 26215 MW; AE9C09884A6FF158 CRC64;
MSFLKSFPPP GPAEGLLRQQ PDTEAVLNGK GLGTGTLYIA ESRLSWLDGS GLGFSLEYPT
ISLHALSRDR SDCLGEHLYV MVNAKFEEES KEPVADEEEE DSDDDVEPIT EFRFVPSDKS
ALEAMFTAMC ECQALHPDPE DEDSDDYDGE EYDVEAHEQG QGDIPTFYTY EEGLSHLTAE
GQATLERLEG MLSQSVSSQY NMAGVRTEDS IRDYEDGMEV DTTPTVAGQF EDADVDH
//
ID ICLN_HUMAN Reviewed; 237 AA.
AC P54105; B2RCS9; Q0VDK6; Q9NRD2; Q9NRD3;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-OCT-1996, sequence version 1.
DT 22-JAN-2014, entry version 129.
DE RecName: Full=Methylosome subunit pICln;
DE AltName: Full=Chloride channel, nucleotide sensitive 1A;
DE AltName: Full=Chloride conductance regulatory protein ICln;
DE Short=I(Cln);
DE AltName: Full=Chloride ion current inducer protein;
DE Short=ClCI;
DE AltName: Full=Reticulocyte pICln;
GN Name=CLNS1A; Synonyms=CLCI, ICLN;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=8579598; DOI=10.1006/bbrc.1996.0146;
RA Buyse G., de Greef C., Raeymaekers L., Droogmans G., Nilius B.,
RA Eggermont J.;
RT "The ubiquitously expressed pICln protein forms homomeric complexes in
RT vitro.";
RL Biochem. Biophys. Res. Commun. 218:822-827(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Ocular ciliary epithelium;
RX PubMed=7887970; DOI=10.1006/bbrc.1995.1309;
RA Anquita J., Chalfant M.L., Civan M.M., Coca-Prados M.;
RT "Molecular cloning of the human volume-sensitive chloride conductance
RT regulatory protein, pICln, from ocular ciliary epithelium.";
RL Biochem. Biophys. Res. Commun. 208:89-95(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Lamb F.S., Mathews K., Mills K., Barna T., Pruessner J.,
RA Kresnicka L.S., Schutte B.C.;
RT "Colocalization of CLCI and CLCN3 to human 4q32 and mouse 8: the
RT candidate region for tottering (tg).";
RL Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=9359436;
RA Schwartz R.S., Rybicki A.C., Nagel R.L.;
RT "Molecular cloning and expression of a chloride channel-associated
RT protein pI(Cln) in human young red blood cells: association with
RT actin.";
RL Biochem. J. 327:609-616(1997).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Lens epithelium;
RA Rae J.L., Shepard A.R.;
RT "Chloride ion current inducer protein in human lens epithelium.";
RL Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS HIS-20 AND THR-218.
RC TISSUE=Colon cancer, and Kidney;
RX PubMed=10825435; DOI=10.1016/S0005-2736(00)00177-2;
RA Hubert M.D., Levitan I., Hoffman M.M., Zraggen M., Hofreiter M.E.,
RA Garber S.S.;
RT "Modulation of volume regulated anion current by I(Cln).";
RL Biochim. Biophys. Acta 1466:105-114(2000).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Subthalamic nucleus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP PROTEIN SEQUENCE OF 2-43; 86-113 AND 188-237, CLEAVAGE OF INITIATOR
RP METHIONINE, ACETYLATION AT SER-2, PHOSPHORYLATION AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma, and Colon carcinoma;
RA Bienvenut W.V., Calvo F., Zebisch A., Kolch W.;
RL Submitted (OCT-2008) to UniProtKB.
RN [11]
RP PROTEIN SEQUENCE OF 19-113 AND 188-237, PHOSPHORYLATION AT SER-102,
RP AND MASS SPECTROMETRY.
RC TISSUE=Embryonic kidney;
RA Bienvenut W.V., Waridel P., Quadroni M.;
RL Submitted (MAR-2009) to UniProtKB.
RN [12]
RP FUNCTION.
RX PubMed=10330151;
RA Pu W.T., Krapivinsky G.B., Krapivinsky L., Clapham D.E.;
RT "pICln inhibits snRNP biogenesis by binding core spliceosomal
RT proteins.";
RL Mol. Cell. Biol. 19:4113-4120(1999).
RN [13]
RP FUNCTION IN METHYLOSOME.
RX PubMed=11713266; DOI=10.1128/MCB.21.24.8289-8300.2001;
RA Friesen W.J., Paushkin S., Wyce A., Massenet S., Pesiridis G.S.,
RA Van Duyne G., Rappsilber J., Mann M., Dreyfuss G.;
RT "The methylosome, a 20S complex containing JBP1 and pICln, produces
RT dimethylarginine-modified Sm proteins.";
RL Mol. Cell. Biol. 21:8289-8300(2001).
RN [14]
RP INTERACTION WITH LSM10; LSM11 AND SNRPB.
RX PubMed=16087681; DOI=10.1074/jbc.M505077200;
RA Azzouz T.N., Pillai R.S., Dapp C., Chari A., Meister G., Kambach C.,
RA Fischer U., Schuemperli D.;
RT "Toward an assembly line for U7 snRNPs: interactions of U7-specific
RT Lsm proteins with PRMT5 and SMN complexes.";
RL J. Biol. Chem. 280:34435-34440(2005).
RN [15]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,
RA Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in
RT signaling networks.";
RL Cell 127:635-648(2006).
RN [16]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Prostate cancer;
RX PubMed=17487921; DOI=10.1002/elps.200600782;
RA Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S.;
RT "Toward a global characterization of the phosphoproteome in prostate
RT cancer cells: identification of phosphoproteins in the LNCaP cell
RT line.";
RL Electrophoresis 28:2027-2034(2007).
RN [17]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III,
RA Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N.,
RA Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [18]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [19]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102 AND THR-223, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [20]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Liver;
RX PubMed=18318008; DOI=10.1002/pmic.200700884;
RA Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D.,
RA Zou H., Gu J.;
RT "Large-scale phosphoproteome analysis of human liver tissue by
RT enrichment and fractionation of phosphopeptides with strong anion
RT exchange chromatography.";
RL Proteomics 8:1346-1361(2008).
RN [21]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [22]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RX PubMed=19369195; DOI=10.1074/mcp.M800588-MCP200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [23]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [24]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [25]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [26]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS
RP SPECTROMETRY.
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [27]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, AND MASS SPECTROMETRY.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- FUNCTION: The interaction with Sm proteins inhibits their assembly
CC on U RNA and interferes with snRNP biogenesis. Inhibits the
CC binding of survival motor neuron protein (SMN) to Sm proteins. May
CC participate in cellular volume control by activation of a
CC swelling-induced chloride conductance pathway.
CC -!- SUBUNIT: Homooligomer. Component of the methylosome, a 20S complex
CC containing SKB1. Interacts with Sm proteins. Interacts with LSM10,
CC LSM11 and SNRPB.
CC -!- INTERACTION:
CC O14744:PRMT5; NbExp=3; IntAct=EBI-724693, EBI-351098;
CC P14678:SNRPB; NbExp=3; IntAct=EBI-724693, EBI-372458;
CC P62314:SNRPD1; NbExp=6; IntAct=EBI-724693, EBI-372177;
CC P62316:SNRPD2; NbExp=5; IntAct=EBI-724693, EBI-297993;
CC P62318:SNRPD3; NbExp=6; IntAct=EBI-724693, EBI-372789;
CC P62306:SNRPF; NbExp=4; IntAct=EBI-724693, EBI-356900;
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton.
CC Note=A small fraction is also associated with the cytoskeleton.
CC -!- SIMILARITY: Belongs to the pICln (TC 1.A.47) family.
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DR EMBL; X91788; CAA62902.1; -; mRNA.
DR EMBL; U17899; AAC50111.1; -; mRNA.
DR EMBL; U53454; AAB03316.1; -; mRNA.
DR EMBL; AF005422; AAB61444.1; -; mRNA.
DR EMBL; AF026003; AAB88806.1; -; mRNA.
DR EMBL; AF232708; AAF76861.1; -; Genomic_DNA.
DR EMBL; AF232224; AAF76858.1; -; Genomic_DNA.
DR EMBL; AF232225; AAF76859.1; -; Genomic_DNA.
DR EMBL; AK315259; BAG37676.1; -; mRNA.
DR EMBL; BT019907; AAV38710.1; -; mRNA.
DR EMBL; BC119634; AAI19635.1; -; mRNA.
DR EMBL; BC119635; AAI19636.1; -; mRNA.
DR PIR; JC4135; JC4135.
DR RefSeq; NP_001284.1; NM_001293.2.
DR RefSeq; XP_005273817.1; XM_005273760.1.
DR UniGene; Hs.430733; -.
DR ProteinModelPortal; P54105; -.
DR SMR; P54105; 18-135.
DR DIP; DIP-44185N; -.
DR IntAct; P54105; 23.
DR MINT; MINT-5002627; -.
DR STRING; 9606.ENSP00000263309; -.
DR TCDB; 1.A.47.1.1; the nucleotide-sensitive anion-selective channel, icln (icln) family.
DR PhosphoSite; P54105; -.
DR DMDM; 1708393; -.
DR PaxDb; P54105; -.
DR PeptideAtlas; P54105; -.
DR PRIDE; P54105; -.
DR DNASU; 1207; -.
DR Ensembl; ENST00000525428; ENSP00000433919; ENSG00000074201.
DR Ensembl; ENST00000528364; ENSP00000434311; ENSG00000074201.
DR GeneID; 1207; -.
DR KEGG; hsa:1207; -.
DR UCSC; uc001oyk.3; human.
DR CTD; 1207; -.
DR GeneCards; GC11M077225; -.
DR HGNC; HGNC:2080; CLNS1A.
DR HPA; CAB017840; -.
DR MIM; 602158; gene.
DR neXtProt; NX_P54105; -.
DR PharmGKB; PA26607; -.
DR eggNOG; NOG316963; -.
DR HOGENOM; HOG000006913; -.
DR HOVERGEN; HBG003108; -.
DR InParanoid; P54105; -.
DR KO; K05019; -.
DR OMA; QYHMAGV; -.
DR OrthoDB; EOG7H1JMG; -.
DR PhylomeDB; P54105; -.
DR Reactome; REACT_21257; Metabolism of RNA.
DR Reactome; REACT_71; Gene Expression.
DR GeneWiki; CLNS1A; -.
DR GenomeRNAi; 1207; -.
DR NextBio; 4973; -.
DR PRO; PR:P54105; -.
DR ArrayExpress; P54105; -.
DR Bgee; P54105; -.
DR CleanEx; HS_CLNS1A; -.
DR Genevestigator; P54105; -.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; TAS:ProtInc.
DR GO; GO:0008015; P:blood circulation; TAS:ProtInc.
DR GO; GO:0006884; P:cell volume homeostasis; IEA:InterPro.
DR GO; GO:0006821; P:chloride transport; IEA:InterPro.
DR GO; GO:0034660; P:ncRNA metabolic process; TAS:Reactome.
DR GO; GO:0000387; P:spliceosomal snRNP assembly; TAS:Reactome.
DR GO; GO:0006810; P:transport; TAS:ProtInc.
DR InterPro; IPR003521; ICln_channel.
DR PANTHER; PTHR21399; PTHR21399; 1.
DR PRINTS; PR01348; ICLNCHANNEL.
PE 1: Evidence at protein level;
KW Acetylation; Complete proteome; Cytoplasm; Cytoskeleton;
KW Direct protein sequencing; Nucleus; Phosphoprotein; Polymorphism;
KW Reference proteome.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 237 Methylosome subunit pICln.
FT /FTId=PRO_0000185155.
FT MOD_RES 2 2 N-acetylserine.
FT MOD_RES 102 102 Phosphoserine.
FT MOD_RES 223 223 Phosphothreonine.
FT VARIANT 20 20 Q -> H.
FT /FTId=VAR_015736.
FT VARIANT 218 218 M -> T.
FT /FTId=VAR_015737.
SQ SEQUENCE 237 AA; 26215 MW; AE9C09884A6FF158 CRC64;
MSFLKSFPPP GPAEGLLRQQ PDTEAVLNGK GLGTGTLYIA ESRLSWLDGS GLGFSLEYPT
ISLHALSRDR SDCLGEHLYV MVNAKFEEES KEPVADEEEE DSDDDVEPIT EFRFVPSDKS
ALEAMFTAMC ECQALHPDPE DEDSDDYDGE EYDVEAHEQG QGDIPTFYTY EEGLSHLTAE
GQATLERLEG MLSQSVSSQY NMAGVRTEDS IRDYEDGMEV DTTPTVAGQF EDADVDH
//
MIM
602158
*RECORD*
*FIELD* NO
602158
*FIELD* TI
*602158 CHLORIDE CHANNEL, NUCLEOTIDE SENSITIVE, 1A; CLNS1A
;;CHLORIDE CONDUCTANCE REGULATOR, VOLUME SENSITIVE; ICln
read more*FIELD* TX
CLONING
Anguita et al. (1995) cloned a novel gene encoding the chloride channel
I(Cln) from a human ocular ciliary epithelial cell cDNA library. The
gene encodes a 237-amino acid polypeptide that is over 90% identical to
rat and canine I(Cln). The predicted protein contains 4 putative
transmembrane domains. By Northern blot analysis, Nagl et al. (1996)
found that the gene is expressed as an approximately 1.7-kb message in a
variety of human tissues.
Buyse et al. (1996) independently cloned I(Cln) from a leukemic cell
line cDNA library and leukocyte RNA. Although I(Cln) has a predicted
molecular mass of 26.2 kD, I(Cln) protein extracted from human
endothelial cell lines migrated at 40 kD on SDS-PAGE. Buyse et al.
(1996) suggested that anomalous migration was due to the high number of
acidic amino acids in I(Cln), which has a pI of 3.8.
GENE FUNCTION
Schwartz et al. (1997) cloned I(Cln) from human reticulocyte cDNA.
I(Cln) protein from red blood cell ghost membranes migrated as 2 bands,
37 and 43 kD, on SDS-PAGE. Schwartz et al. (1997) immunolocalized I(Cln)
to the red blood cell membrane and, by the yeast 2-hybrid system,
demonstrated that it formed stable complexes with beta-actin (102630).
The authors suggested that I(Cln) is involved in chloride transport and
volume regulation in red blood cells.
GENE STRUCTURE
Nagl et al. (1996) cloned the genomic DNA of the CLNS1A gene and showed
that the gene comprises several exons spanning 19 kb of the genome.
MAPPING
Nagl et al. (1996) used fluorescence in situ hybridization to localize
the I(Cln) gene to chromosome 11q13.5-q14.1. Schwartz et al. (1997)
mapped the I(Cln) gene to 11q13 by fluorescence in situ hybridization,
and confirmed this map position by finding homologous sequence contained
within a Human Gene Map marker from that region.
- PSEUDOGENE
By PCR strategies, Nagl et al. (1996) mapped an intronless copy of the
CLNS1A gene, which they termed CLNS1B, to chromosome 6q13. Nagl et al.
(1996) stated that further testing would reveal whether CLNS1B is a
pseudogene or is functionally expressed.
*FIELD* RF
1. Anguita, J.; Chalfant, M. L.; Civan, M. M.; Coca-Prados, M.: Molecular
cloning of the human volume-sensitive chloride conductance regulatory
protein, pI(Cln), from ocular ciliary epithelium. Biochem. Biophys.
Res. Commun. 208: 89-95, 1995.
2. Buyse, G.; De Greef, C.; Raeymaekers, L.; Droogmans, G.; Nilius,
B.; Eggermont, J.: The ubiquitously expressed pI(Cln) protein forms
homomeric complexes in vitro. Biochem. Biophys. Res. Commun. 218:
822-827, 1996.
3. Nagl, U. O.; Erdel, M.; Schmarda, A.; Seri, M.; Pinggera, G. M.;
Gschwentner, M.; Duba, C.; Galietta, L. J. V.; Deetjen, P.; Utermann,
G.; Paulmichl, M.: Chromosomal localization of the genes (CLNS1A
and CLNS1B) coding for the swelling-dependent chloride channel I(Cln). Genomics 38:
438-441, 1996.
4. Schwartz, R. S.; Rybicki, A. C.; Nagel, R. L.: Molecular cloning
and expression of a chloride channel-associated protein pI(Cln) in
human young red blood cells: association with actin. Biochem. J. 327:
609-616, 1997.
*FIELD* CN
Rebekah S. Rasooly - updated: 5/11/1998
*FIELD* CD
Jennifer P. Macke: 12/9/1997
*FIELD* ED
alopez: 09/10/2010
alopez: 5/11/1998
alopez: 12/17/1997
alopez: 12/9/1997
*RECORD*
*FIELD* NO
602158
*FIELD* TI
*602158 CHLORIDE CHANNEL, NUCLEOTIDE SENSITIVE, 1A; CLNS1A
;;CHLORIDE CONDUCTANCE REGULATOR, VOLUME SENSITIVE; ICln
read more*FIELD* TX
CLONING
Anguita et al. (1995) cloned a novel gene encoding the chloride channel
I(Cln) from a human ocular ciliary epithelial cell cDNA library. The
gene encodes a 237-amino acid polypeptide that is over 90% identical to
rat and canine I(Cln). The predicted protein contains 4 putative
transmembrane domains. By Northern blot analysis, Nagl et al. (1996)
found that the gene is expressed as an approximately 1.7-kb message in a
variety of human tissues.
Buyse et al. (1996) independently cloned I(Cln) from a leukemic cell
line cDNA library and leukocyte RNA. Although I(Cln) has a predicted
molecular mass of 26.2 kD, I(Cln) protein extracted from human
endothelial cell lines migrated at 40 kD on SDS-PAGE. Buyse et al.
(1996) suggested that anomalous migration was due to the high number of
acidic amino acids in I(Cln), which has a pI of 3.8.
GENE FUNCTION
Schwartz et al. (1997) cloned I(Cln) from human reticulocyte cDNA.
I(Cln) protein from red blood cell ghost membranes migrated as 2 bands,
37 and 43 kD, on SDS-PAGE. Schwartz et al. (1997) immunolocalized I(Cln)
to the red blood cell membrane and, by the yeast 2-hybrid system,
demonstrated that it formed stable complexes with beta-actin (102630).
The authors suggested that I(Cln) is involved in chloride transport and
volume regulation in red blood cells.
GENE STRUCTURE
Nagl et al. (1996) cloned the genomic DNA of the CLNS1A gene and showed
that the gene comprises several exons spanning 19 kb of the genome.
MAPPING
Nagl et al. (1996) used fluorescence in situ hybridization to localize
the I(Cln) gene to chromosome 11q13.5-q14.1. Schwartz et al. (1997)
mapped the I(Cln) gene to 11q13 by fluorescence in situ hybridization,
and confirmed this map position by finding homologous sequence contained
within a Human Gene Map marker from that region.
- PSEUDOGENE
By PCR strategies, Nagl et al. (1996) mapped an intronless copy of the
CLNS1A gene, which they termed CLNS1B, to chromosome 6q13. Nagl et al.
(1996) stated that further testing would reveal whether CLNS1B is a
pseudogene or is functionally expressed.
*FIELD* RF
1. Anguita, J.; Chalfant, M. L.; Civan, M. M.; Coca-Prados, M.: Molecular
cloning of the human volume-sensitive chloride conductance regulatory
protein, pI(Cln), from ocular ciliary epithelium. Biochem. Biophys.
Res. Commun. 208: 89-95, 1995.
2. Buyse, G.; De Greef, C.; Raeymaekers, L.; Droogmans, G.; Nilius,
B.; Eggermont, J.: The ubiquitously expressed pI(Cln) protein forms
homomeric complexes in vitro. Biochem. Biophys. Res. Commun. 218:
822-827, 1996.
3. Nagl, U. O.; Erdel, M.; Schmarda, A.; Seri, M.; Pinggera, G. M.;
Gschwentner, M.; Duba, C.; Galietta, L. J. V.; Deetjen, P.; Utermann,
G.; Paulmichl, M.: Chromosomal localization of the genes (CLNS1A
and CLNS1B) coding for the swelling-dependent chloride channel I(Cln). Genomics 38:
438-441, 1996.
4. Schwartz, R. S.; Rybicki, A. C.; Nagel, R. L.: Molecular cloning
and expression of a chloride channel-associated protein pI(Cln) in
human young red blood cells: association with actin. Biochem. J. 327:
609-616, 1997.
*FIELD* CN
Rebekah S. Rasooly - updated: 5/11/1998
*FIELD* CD
Jennifer P. Macke: 12/9/1997
*FIELD* ED
alopez: 09/10/2010
alopez: 5/11/1998
alopez: 12/17/1997
alopez: 12/9/1997