Full text data of C2orf88
C2orf88
[Confidence: high (present in two of the MS resources)]
Small membrane A-kinase anchor protein; Small membrane AKAP; smAKAP
Small membrane A-kinase anchor protein; Small membrane AKAP; smAKAP
UniProt
Q9BSF0
ID SMAKA_HUMAN Reviewed; 95 AA.
AC Q9BSF0; D3DPI3; P0C876; Q53TC7;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
read moreDT 02-SEP-2008, sequence version 2.
DT 22-JAN-2014, entry version 73.
DE RecName: Full=Small membrane A-kinase anchor protein;
DE Short=Small membrane AKAP;
DE Short=smAKAP;
GN Name=C2orf88;
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 [LARGE SCALE MRNA].
RC TISSUE=Trachea;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-
RT length human cDNAs encoding secretion or membrane proteins from oligo-
RT capped cDNA libraries.";
RL DNA Res. 12:117-126(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA Waterston R.H., Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2
RT and 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-56.
RC TISSUE=Uterus;
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 [6]
RP PROTEIN SEQUENCE OF 6-33 AND 38-95, FUNCTION, INTERACTION WITH PRKAR1A
RP AND PRKAR1B, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, POSSIBLE
RP POSSIBLE MYRISTOYLATION AT GLY-2, PALMITOYLATION AT CYS-3, AND
RP MUTAGENESIS OF GLY-2 AND CYS-3.
RX PubMed=23115245; DOI=10.1074/jbc.M112.395970;
RA Burgers P.P., Ma Y., Margarucci L., Mackey M., van der Heyden M.A.,
RA Ellisman M., Scholten A., Taylor S.S., Heck A.J.;
RT "A small novel A-kinase anchoring protein (AKAP) that localizes
RT specifically protein kinase A-regulatory subunit I (PKA-RI) to the
RT plasma membrane.";
RL J. Biol. Chem. 287:43789-43797(2012).
CC -!- FUNCTION: Binds to type I regulatory subunits of protein kinase A
CC (PKA-RI) and may anchor/target them to the plasma membrane.
CC -!- SUBUNIT: Interacts with PRKAR1A and PRKAR1B.
CC -!- SUBCELLULAR LOCATION: Cell membrane. Note=The GFP-tagged protein
CC has been detected at the plasma membrane, enriched in filopodia
CC and cell-cell junctions (PubMed:23115245).
CC -!- TISSUE SPECIFICITY: Expressed in heart (at protein level).
CC -!- PTM: May be palmitoylated at Cys-3.
CC -!- SIMILARITY: Belongs to the small membrane AKAP family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK313395; BAG36193.1; -; mRNA.
DR EMBL; AK075168; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC010679; AAX93233.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10878.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10879.1; -; Genomic_DNA.
DR EMBL; BC005083; AAH05083.1; -; mRNA.
DR RefSeq; NP_001035984.1; NM_001042519.1.
DR RefSeq; NP_001035985.1; NM_001042520.1.
DR RefSeq; NP_001035986.1; NM_001042521.1.
DR RefSeq; NP_115697.2; NM_032321.2.
DR RefSeq; XP_005246962.1; XM_005246905.1.
DR RefSeq; XP_005246963.1; XM_005246906.1.
DR UniGene; Hs.389311; -.
DR ProteinModelPortal; Q9BSF0; -.
DR IntAct; Q9BSF0; 8.
DR MINT; MINT-1464332; -.
DR STRING; 9606.ENSP00000345107; -.
DR PhosphoSite; Q9BSF0; -.
DR PaxDb; Q9BSF0; -.
DR PRIDE; Q9BSF0; -.
DR DNASU; 84281; -.
DR Ensembl; ENST00000340623; ENSP00000345107; ENSG00000187699.
DR Ensembl; ENST00000396974; ENSP00000380172; ENSG00000187699.
DR Ensembl; ENST00000409870; ENSP00000386649; ENSG00000187699.
DR Ensembl; ENST00000443551; ENSP00000405225; ENSG00000187699.
DR GeneID; 84281; -.
DR KEGG; hsa:84281; -.
DR UCSC; uc002urq.3; human.
DR CTD; 84281; -.
DR GeneCards; GC02P190710; -.
DR HGNC; HGNC:28191; C2orf88.
DR HPA; HPA049549; -.
DR MIM; 615117; gene.
DR neXtProt; NX_Q9BSF0; -.
DR PharmGKB; PA164717227; -.
DR eggNOG; NOG44219; -.
DR HOGENOM; HOG000111341; -.
DR InParanoid; Q9BSF0; -.
DR OMA; NIKYYDI; -.
DR GenomeRNAi; 84281; -.
DR NextBio; 73875; -.
DR ArrayExpress; Q9BSF0; -.
DR Bgee; Q9BSF0; -.
DR Genevestigator; Q9BSF0; -.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR InterPro; IPR027969; Small_membr_AKAP.
DR Pfam; PF15127; DUF4565; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Complete proteome; Direct protein sequencing;
KW Lipoprotein; Membrane; Myristate; Palmitate; Polymorphism;
KW Reference proteome.
FT INIT_MET 1 1 Removed (Probable).
FT CHAIN 2 95 Small membrane A-kinase anchor protein.
FT /FTId=PRO_0000348430.
FT REGION 56 74 PKA-RI-binding.
FT LIPID 2 2 N-myristoyl glycine (Probable).
FT VARIANT 56 56 T -> I (in dbSNP:rs6753459).
FT /FTId=VAR_046151.
FT MUTAGEN 2 2 G->A: Loss of plasma membrane
FT localization.
FT MUTAGEN 3 3 C->A: Loss of plasma membrane
FT localization.
FT CONFLICT 26 26 E -> Q (in Ref. 2; AK075168).
SQ SEQUENCE 95 AA; 10970 MW; 9E6DDFAF29F29551 CRC64;
MGCMKSKQTF PFPTIYEGEK QHESEEPFMP EERCLPRMAS PVNVKEEVKE PPGTNTVILE
YAHRLSQDIL CDALQQWACN NIKYHDIPYI ESEGP
//
ID SMAKA_HUMAN Reviewed; 95 AA.
AC Q9BSF0; D3DPI3; P0C876; Q53TC7;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
read moreDT 02-SEP-2008, sequence version 2.
DT 22-JAN-2014, entry version 73.
DE RecName: Full=Small membrane A-kinase anchor protein;
DE Short=Small membrane AKAP;
DE Short=smAKAP;
GN Name=C2orf88;
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 [LARGE SCALE MRNA].
RC TISSUE=Trachea;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-
RT length human cDNAs encoding secretion or membrane proteins from oligo-
RT capped cDNA libraries.";
RL DNA Res. 12:117-126(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA Waterston R.H., Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2
RT and 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-56.
RC TISSUE=Uterus;
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 [6]
RP PROTEIN SEQUENCE OF 6-33 AND 38-95, FUNCTION, INTERACTION WITH PRKAR1A
RP AND PRKAR1B, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, POSSIBLE
RP POSSIBLE MYRISTOYLATION AT GLY-2, PALMITOYLATION AT CYS-3, AND
RP MUTAGENESIS OF GLY-2 AND CYS-3.
RX PubMed=23115245; DOI=10.1074/jbc.M112.395970;
RA Burgers P.P., Ma Y., Margarucci L., Mackey M., van der Heyden M.A.,
RA Ellisman M., Scholten A., Taylor S.S., Heck A.J.;
RT "A small novel A-kinase anchoring protein (AKAP) that localizes
RT specifically protein kinase A-regulatory subunit I (PKA-RI) to the
RT plasma membrane.";
RL J. Biol. Chem. 287:43789-43797(2012).
CC -!- FUNCTION: Binds to type I regulatory subunits of protein kinase A
CC (PKA-RI) and may anchor/target them to the plasma membrane.
CC -!- SUBUNIT: Interacts with PRKAR1A and PRKAR1B.
CC -!- SUBCELLULAR LOCATION: Cell membrane. Note=The GFP-tagged protein
CC has been detected at the plasma membrane, enriched in filopodia
CC and cell-cell junctions (PubMed:23115245).
CC -!- TISSUE SPECIFICITY: Expressed in heart (at protein level).
CC -!- PTM: May be palmitoylated at Cys-3.
CC -!- SIMILARITY: Belongs to the small membrane AKAP family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK313395; BAG36193.1; -; mRNA.
DR EMBL; AK075168; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC010679; AAX93233.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10878.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10879.1; -; Genomic_DNA.
DR EMBL; BC005083; AAH05083.1; -; mRNA.
DR RefSeq; NP_001035984.1; NM_001042519.1.
DR RefSeq; NP_001035985.1; NM_001042520.1.
DR RefSeq; NP_001035986.1; NM_001042521.1.
DR RefSeq; NP_115697.2; NM_032321.2.
DR RefSeq; XP_005246962.1; XM_005246905.1.
DR RefSeq; XP_005246963.1; XM_005246906.1.
DR UniGene; Hs.389311; -.
DR ProteinModelPortal; Q9BSF0; -.
DR IntAct; Q9BSF0; 8.
DR MINT; MINT-1464332; -.
DR STRING; 9606.ENSP00000345107; -.
DR PhosphoSite; Q9BSF0; -.
DR PaxDb; Q9BSF0; -.
DR PRIDE; Q9BSF0; -.
DR DNASU; 84281; -.
DR Ensembl; ENST00000340623; ENSP00000345107; ENSG00000187699.
DR Ensembl; ENST00000396974; ENSP00000380172; ENSG00000187699.
DR Ensembl; ENST00000409870; ENSP00000386649; ENSG00000187699.
DR Ensembl; ENST00000443551; ENSP00000405225; ENSG00000187699.
DR GeneID; 84281; -.
DR KEGG; hsa:84281; -.
DR UCSC; uc002urq.3; human.
DR CTD; 84281; -.
DR GeneCards; GC02P190710; -.
DR HGNC; HGNC:28191; C2orf88.
DR HPA; HPA049549; -.
DR MIM; 615117; gene.
DR neXtProt; NX_Q9BSF0; -.
DR PharmGKB; PA164717227; -.
DR eggNOG; NOG44219; -.
DR HOGENOM; HOG000111341; -.
DR InParanoid; Q9BSF0; -.
DR OMA; NIKYYDI; -.
DR GenomeRNAi; 84281; -.
DR NextBio; 73875; -.
DR ArrayExpress; Q9BSF0; -.
DR Bgee; Q9BSF0; -.
DR Genevestigator; Q9BSF0; -.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR InterPro; IPR027969; Small_membr_AKAP.
DR Pfam; PF15127; DUF4565; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Complete proteome; Direct protein sequencing;
KW Lipoprotein; Membrane; Myristate; Palmitate; Polymorphism;
KW Reference proteome.
FT INIT_MET 1 1 Removed (Probable).
FT CHAIN 2 95 Small membrane A-kinase anchor protein.
FT /FTId=PRO_0000348430.
FT REGION 56 74 PKA-RI-binding.
FT LIPID 2 2 N-myristoyl glycine (Probable).
FT VARIANT 56 56 T -> I (in dbSNP:rs6753459).
FT /FTId=VAR_046151.
FT MUTAGEN 2 2 G->A: Loss of plasma membrane
FT localization.
FT MUTAGEN 3 3 C->A: Loss of plasma membrane
FT localization.
FT CONFLICT 26 26 E -> Q (in Ref. 2; AK075168).
SQ SEQUENCE 95 AA; 10970 MW; 9E6DDFAF29F29551 CRC64;
MGCMKSKQTF PFPTIYEGEK QHESEEPFMP EERCLPRMAS PVNVKEEVKE PPGTNTVILE
YAHRLSQDIL CDALQQWACN NIKYHDIPYI ESEGP
//
MIM
615117
*RECORD*
*FIELD* NO
615117
*FIELD* TI
*615117 CHROMOSOME 2 OPEN READING FRAME 88; C2ORF88
;;SMALL MEMBRANE PROTEIN KINASE A-ANCHORING PROTEIN; SMAKAP
read more*FIELD* TX
DESCRIPTION
Protein kinase A (PKA; see 601639)-anchoring proteins (AKAPs) provide
spatiotemporal specificity for the omnipotent cAMP-dependent PKA via
high-affinity interactions with PKA regulatory subunits. C2ORF88, or
SMAKAP, is an AKAP that specifically localizes type I PKA regulatory
subunits (e.g., PRKAR1A; 188830) to the plasma membrane (Burgers et al.,
2012).
CLONING
Using a cAMP affinity-based chemical proteomics approach in human heart
and platelets, Burgers et al. (2012) identified C2ORF88, which they
termed SMAKAP. The predicted 95-amino acid protein contains a 14-residue
PKA-anchoring motif near its C terminus. Database analysis identified
SMAKAP orthologs in mammals, birds, and fish. RT-PCR analysis of mouse
tissues detected ubiquitous Smakap expression, with lowest levels in
spleen and liver. Transient transfection and fluorescence and electron
microscopy experiments demonstrated localization of human SMAKAP at the
plasma membrane and particularly with filopodia and at cell-cell
junctions.
GENE FUNCTION
Using in vitro binding assays and in vivo localization and competition
experiments, Burgers et al. (2012) showed that human SMAKAP selectively
localized type I PKA regulatory subunits to the plasma membrane.
Mutation analysis suggested that SMAKAP localizes to the plasma membrane
via myristoylation/palmitoylation of its N terminus.
MAPPING
Gross (2013) mapped the C2ORF88 gene to chromosome 2q32.2 based on an
alignment of the C2ORF88 sequence (GenBank GENBANK BC005083) with the
genomic sequence (GRCh37).
*FIELD* RF
1. Burgers, P. P.; Ma, Y.; Margarucci, L.; Mackey, M.; van der Heyden,
M. A. G.; Ellisman, M.; Scholten, A.; Taylor, S. S.; Heck, A. J. R.
: A small novel A-kinase anchoring protein (AKAP) that localizes specifically
protein kinase A-regulatory subunit I (PKA-RI) to the plasma membrane. J.
Biol. Chem. 287: 43789-43797, 2012.
2. Gross, M. B.: Personal Communication. Baltimore, Md. 3/11/2013.
*FIELD* CN
Matthew B. Gross - updated: 03/11/2013
*FIELD* CD
Paul J. Converse: 3/11/2013
*FIELD* ED
mgross: 03/11/2013
*RECORD*
*FIELD* NO
615117
*FIELD* TI
*615117 CHROMOSOME 2 OPEN READING FRAME 88; C2ORF88
;;SMALL MEMBRANE PROTEIN KINASE A-ANCHORING PROTEIN; SMAKAP
read more*FIELD* TX
DESCRIPTION
Protein kinase A (PKA; see 601639)-anchoring proteins (AKAPs) provide
spatiotemporal specificity for the omnipotent cAMP-dependent PKA via
high-affinity interactions with PKA regulatory subunits. C2ORF88, or
SMAKAP, is an AKAP that specifically localizes type I PKA regulatory
subunits (e.g., PRKAR1A; 188830) to the plasma membrane (Burgers et al.,
2012).
CLONING
Using a cAMP affinity-based chemical proteomics approach in human heart
and platelets, Burgers et al. (2012) identified C2ORF88, which they
termed SMAKAP. The predicted 95-amino acid protein contains a 14-residue
PKA-anchoring motif near its C terminus. Database analysis identified
SMAKAP orthologs in mammals, birds, and fish. RT-PCR analysis of mouse
tissues detected ubiquitous Smakap expression, with lowest levels in
spleen and liver. Transient transfection and fluorescence and electron
microscopy experiments demonstrated localization of human SMAKAP at the
plasma membrane and particularly with filopodia and at cell-cell
junctions.
GENE FUNCTION
Using in vitro binding assays and in vivo localization and competition
experiments, Burgers et al. (2012) showed that human SMAKAP selectively
localized type I PKA regulatory subunits to the plasma membrane.
Mutation analysis suggested that SMAKAP localizes to the plasma membrane
via myristoylation/palmitoylation of its N terminus.
MAPPING
Gross (2013) mapped the C2ORF88 gene to chromosome 2q32.2 based on an
alignment of the C2ORF88 sequence (GenBank GENBANK BC005083) with the
genomic sequence (GRCh37).
*FIELD* RF
1. Burgers, P. P.; Ma, Y.; Margarucci, L.; Mackey, M.; van der Heyden,
M. A. G.; Ellisman, M.; Scholten, A.; Taylor, S. S.; Heck, A. J. R.
: A small novel A-kinase anchoring protein (AKAP) that localizes specifically
protein kinase A-regulatory subunit I (PKA-RI) to the plasma membrane. J.
Biol. Chem. 287: 43789-43797, 2012.
2. Gross, M. B.: Personal Communication. Baltimore, Md. 3/11/2013.
*FIELD* CN
Matthew B. Gross - updated: 03/11/2013
*FIELD* CD
Paul J. Converse: 3/11/2013
*FIELD* ED
mgross: 03/11/2013