Full text data of RNF114
RNF114
(ZNF228, ZNF313)
[Confidence: low (only semi-automatic identification from reviews)]
RING finger protein 114 (Zinc finger protein 228; Zinc finger protein 313)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
RING finger protein 114 (Zinc finger protein 228; Zinc finger protein 313)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9Y508
ID RN114_HUMAN Reviewed; 228 AA.
AC Q9Y508; B2RDQ9; B4DWY5; E1P627; Q6N0B0;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-NOV-1999, sequence version 1.
DT 22-JAN-2014, entry version 115.
DE RecName: Full=RING finger protein 114;
DE AltName: Full=Zinc finger protein 228;
DE AltName: Full=Zinc finger protein 313;
GN Name=RNF114; Synonyms=ZNF228, ZNF313;
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] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=12621547;
RA Ma Y.-X., Zhang S., Hou Y., Huang X., Wu Q., Sun Y.;
RT "Identification of a novel human zinc finger protein gene ZNF313.";
RL Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 35:230-237(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Endometrial tumor;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Synovium, and Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
RA Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Ovary;
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 [8]
RP TISSUE SPECIFICITY.
RX PubMed=18364390; DOI=10.1093/hmg/ddn091;
RA Capon F., Bijlmakers M.-J., Wolf N., Quaranta M., Huffmeier U.,
RA Allen M., Timms K., Abkevich V., Gutin A., Smith R., Warren R.B.,
RA Young H.S., Worthington J., Burden A.D., Griffiths C.E.M., Hayday A.,
RA Nestle F.O., Reis A., Lanchbury J., Barker J.N., Trembath R.C.;
RT "Identification of ZNF313/RNF114 as a novel psoriasis susceptibility
RT gene.";
RL Hum. Mol. Genet. 17:1938-1945(2008).
RN [9]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-102 AND LYS-112, AND MASS
RP SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [10]
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).
CC -!- FUNCTION: May play a role in spermatogenesis.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y508-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y508-2; Sequence=VSP_036843, VSP_036844;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Expressed in numerous tissues, including skin,
CC CD4 lymphocytes and dendritic cells. Highest levels in testis.
CC -!- SIMILARITY: Contains 1 RING-type zinc finger.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAE45709.1; Type=Erroneous initiation;
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DR EMBL; AF265215; AAF75763.1; -; mRNA.
DR EMBL; BX640603; CAE45709.1; ALT_INIT; mRNA.
DR EMBL; BT006795; AAP35441.1; -; mRNA.
DR EMBL; AK315638; BAG38006.1; -; mRNA.
DR EMBL; AK301731; BAG63197.1; -; mRNA.
DR EMBL; AL031685; CAB46028.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75641.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75643.1; -; Genomic_DNA.
DR EMBL; BC013695; AAH13695.1; -; mRNA.
DR EMBL; BC066919; AAH66919.1; -; mRNA.
DR RefSeq; NP_061153.1; NM_018683.3.
DR UniGene; Hs.144949; -.
DR ProteinModelPortal; Q9Y508; -.
DR SMR; Q9Y508; 23-72.
DR IntAct; Q9Y508; 25.
DR MINT; MINT-1419719; -.
DR STRING; 9606.ENSP00000244061; -.
DR PhosphoSite; Q9Y508; -.
DR DMDM; 20141070; -.
DR PaxDb; Q9Y508; -.
DR PeptideAtlas; Q9Y508; -.
DR PRIDE; Q9Y508; -.
DR DNASU; 55905; -.
DR Ensembl; ENST00000244061; ENSP00000244061; ENSG00000124226.
DR GeneID; 55905; -.
DR KEGG; hsa:55905; -.
DR UCSC; uc002xux.3; human.
DR CTD; 55905; -.
DR GeneCards; GC20P048552; -.
DR HGNC; HGNC:13094; RNF114.
DR HPA; HPA021184; -.
DR MIM; 612451; gene.
DR neXtProt; NX_Q9Y508; -.
DR PharmGKB; PA162401502; -.
DR eggNOG; NOG145063; -.
DR HOGENOM; HOG000230946; -.
DR HOVERGEN; HBG074331; -.
DR InParanoid; Q9Y508; -.
DR KO; K15697; -.
DR OMA; IEHIQRR; -.
DR OrthoDB; EOG7VDXQ7; -.
DR PhylomeDB; Q9Y508; -.
DR ChiTaRS; RNF114; human.
DR GenomeRNAi; 55905; -.
DR NextBio; 61283; -.
DR PRO; PR:Q9Y508; -.
DR ArrayExpress; Q9Y508; -.
DR Bgee; Q9Y508; -.
DR CleanEx; HS_RNF114; -.
DR Genevestigator; Q9Y508; -.
DR GO; GO:0005622; C:intracellular; IDA:LIFEdb.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007275; P:multicellular organismal development; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR008598; Di19_Zn_binding.
DR InterPro; IPR015880; Znf_C2H2-like.
DR InterPro; IPR018957; Znf_C3HC4_RING-type.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR InterPro; IPR017907; Znf_RING_CS.
DR Pfam; PF00097; zf-C3HC4; 1.
DR Pfam; PF05605; zf-Di19; 1.
DR SMART; SM00184; RING; 1.
DR SMART; SM00355; ZnF_C2H2; 2.
DR PROSITE; PS00518; ZF_RING_1; 1.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome;
KW Developmental protein; Differentiation; Metal-binding;
KW Reference proteome; Spermatogenesis; Zinc; Zinc-finger.
FT CHAIN 1 228 RING finger protein 114.
FT /FTId=PRO_0000056307.
FT ZN_FING 29 68 RING-type.
FT MOD_RES 102 102 N6-acetyllysine.
FT MOD_RES 112 112 N6-acetyllysine.
FT VAR_SEQ 173 191 CPICASMPWGDPNYRSANF -> SEQSPCLLSVSCYRASIT
FT Y (in isoform 2).
FT /FTId=VSP_036843.
FT VAR_SEQ 192 228 Missing (in isoform 2).
FT /FTId=VSP_036844.
FT CONFLICT 13 13 Q -> H (in Ref. 2; CAE45709).
FT CONFLICT 20 20 E -> K (in Ref. 2; CAE45709).
FT CONFLICT 34 34 E -> V (in Ref. 2; CAE45709).
FT CONFLICT 205 205 T -> A (in Ref. 2; CAE45709).
SQ SEQUENCE 228 AA; 25694 MW; DF5A962B1EC13A21 CRC64;
MAAQQRDCGG AAQLAGPAAE ADPLGRFTCP VCLEVYEKPV QVPCGHVFCS ACLQECLKPK
KPVCGVCRSA LAPGVRAVEL ERQIESTETS CHGCRKNFFL SKIRSHVATC SKYQNYIMEG
VKATIKDASL QPRNVPNRYT FPCPYCPEKN FDQEGLVEHC KLFHSTDTKS VVCPICASMP
WGDPNYRSAN FREHIQRRHR FSYDTFVDYD VDEEDMMNQV LQRSIIDQ
//
ID RN114_HUMAN Reviewed; 228 AA.
AC Q9Y508; B2RDQ9; B4DWY5; E1P627; Q6N0B0;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-NOV-1999, sequence version 1.
DT 22-JAN-2014, entry version 115.
DE RecName: Full=RING finger protein 114;
DE AltName: Full=Zinc finger protein 228;
DE AltName: Full=Zinc finger protein 313;
GN Name=RNF114; Synonyms=ZNF228, ZNF313;
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] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=12621547;
RA Ma Y.-X., Zhang S., Hou Y., Huang X., Wu Q., Sun Y.;
RT "Identification of a novel human zinc finger protein gene ZNF313.";
RL Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 35:230-237(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Endometrial tumor;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Synovium, and Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
RA Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Ovary;
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 [8]
RP TISSUE SPECIFICITY.
RX PubMed=18364390; DOI=10.1093/hmg/ddn091;
RA Capon F., Bijlmakers M.-J., Wolf N., Quaranta M., Huffmeier U.,
RA Allen M., Timms K., Abkevich V., Gutin A., Smith R., Warren R.B.,
RA Young H.S., Worthington J., Burden A.D., Griffiths C.E.M., Hayday A.,
RA Nestle F.O., Reis A., Lanchbury J., Barker J.N., Trembath R.C.;
RT "Identification of ZNF313/RNF114 as a novel psoriasis susceptibility
RT gene.";
RL Hum. Mol. Genet. 17:1938-1945(2008).
RN [9]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-102 AND LYS-112, AND MASS
RP SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [10]
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).
CC -!- FUNCTION: May play a role in spermatogenesis.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y508-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y508-2; Sequence=VSP_036843, VSP_036844;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Expressed in numerous tissues, including skin,
CC CD4 lymphocytes and dendritic cells. Highest levels in testis.
CC -!- SIMILARITY: Contains 1 RING-type zinc finger.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAE45709.1; Type=Erroneous initiation;
CC -----------------------------------------------------------------------
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DR EMBL; AF265215; AAF75763.1; -; mRNA.
DR EMBL; BX640603; CAE45709.1; ALT_INIT; mRNA.
DR EMBL; BT006795; AAP35441.1; -; mRNA.
DR EMBL; AK315638; BAG38006.1; -; mRNA.
DR EMBL; AK301731; BAG63197.1; -; mRNA.
DR EMBL; AL031685; CAB46028.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75641.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75643.1; -; Genomic_DNA.
DR EMBL; BC013695; AAH13695.1; -; mRNA.
DR EMBL; BC066919; AAH66919.1; -; mRNA.
DR RefSeq; NP_061153.1; NM_018683.3.
DR UniGene; Hs.144949; -.
DR ProteinModelPortal; Q9Y508; -.
DR SMR; Q9Y508; 23-72.
DR IntAct; Q9Y508; 25.
DR MINT; MINT-1419719; -.
DR STRING; 9606.ENSP00000244061; -.
DR PhosphoSite; Q9Y508; -.
DR DMDM; 20141070; -.
DR PaxDb; Q9Y508; -.
DR PeptideAtlas; Q9Y508; -.
DR PRIDE; Q9Y508; -.
DR DNASU; 55905; -.
DR Ensembl; ENST00000244061; ENSP00000244061; ENSG00000124226.
DR GeneID; 55905; -.
DR KEGG; hsa:55905; -.
DR UCSC; uc002xux.3; human.
DR CTD; 55905; -.
DR GeneCards; GC20P048552; -.
DR HGNC; HGNC:13094; RNF114.
DR HPA; HPA021184; -.
DR MIM; 612451; gene.
DR neXtProt; NX_Q9Y508; -.
DR PharmGKB; PA162401502; -.
DR eggNOG; NOG145063; -.
DR HOGENOM; HOG000230946; -.
DR HOVERGEN; HBG074331; -.
DR InParanoid; Q9Y508; -.
DR KO; K15697; -.
DR OMA; IEHIQRR; -.
DR OrthoDB; EOG7VDXQ7; -.
DR PhylomeDB; Q9Y508; -.
DR ChiTaRS; RNF114; human.
DR GenomeRNAi; 55905; -.
DR NextBio; 61283; -.
DR PRO; PR:Q9Y508; -.
DR ArrayExpress; Q9Y508; -.
DR Bgee; Q9Y508; -.
DR CleanEx; HS_RNF114; -.
DR Genevestigator; Q9Y508; -.
DR GO; GO:0005622; C:intracellular; IDA:LIFEdb.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007275; P:multicellular organismal development; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR008598; Di19_Zn_binding.
DR InterPro; IPR015880; Znf_C2H2-like.
DR InterPro; IPR018957; Znf_C3HC4_RING-type.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR InterPro; IPR017907; Znf_RING_CS.
DR Pfam; PF00097; zf-C3HC4; 1.
DR Pfam; PF05605; zf-Di19; 1.
DR SMART; SM00184; RING; 1.
DR SMART; SM00355; ZnF_C2H2; 2.
DR PROSITE; PS00518; ZF_RING_1; 1.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome;
KW Developmental protein; Differentiation; Metal-binding;
KW Reference proteome; Spermatogenesis; Zinc; Zinc-finger.
FT CHAIN 1 228 RING finger protein 114.
FT /FTId=PRO_0000056307.
FT ZN_FING 29 68 RING-type.
FT MOD_RES 102 102 N6-acetyllysine.
FT MOD_RES 112 112 N6-acetyllysine.
FT VAR_SEQ 173 191 CPICASMPWGDPNYRSANF -> SEQSPCLLSVSCYRASIT
FT Y (in isoform 2).
FT /FTId=VSP_036843.
FT VAR_SEQ 192 228 Missing (in isoform 2).
FT /FTId=VSP_036844.
FT CONFLICT 13 13 Q -> H (in Ref. 2; CAE45709).
FT CONFLICT 20 20 E -> K (in Ref. 2; CAE45709).
FT CONFLICT 34 34 E -> V (in Ref. 2; CAE45709).
FT CONFLICT 205 205 T -> A (in Ref. 2; CAE45709).
SQ SEQUENCE 228 AA; 25694 MW; DF5A962B1EC13A21 CRC64;
MAAQQRDCGG AAQLAGPAAE ADPLGRFTCP VCLEVYEKPV QVPCGHVFCS ACLQECLKPK
KPVCGVCRSA LAPGVRAVEL ERQIESTETS CHGCRKNFFL SKIRSHVATC SKYQNYIMEG
VKATIKDASL QPRNVPNRYT FPCPYCPEKN FDQEGLVEHC KLFHSTDTKS VVCPICASMP
WGDPNYRSAN FREHIQRRHR FSYDTFVDYD VDEEDMMNQV LQRSIIDQ
//
MIM
612451
*RECORD*
*FIELD* NO
612451
*FIELD* TI
*612451 RING FINGER PROTEIN 114; RNF114
;;ZINC FINGER PROTEIN 313; ZNF313
*FIELD* TX
read more
CLONING
Capon et al. (2008) identified RNF114, which they called ZNF313, in a
region of chromosome 20 associated with psoriasis (see 177900). The
deduced 25.7-kD protein belongs to a family of RING domain E3 ubiquitin
ligases characterized by 3 zinc fingers and a ubiquitin-interacting
motif. Real-time PCR detected high ZNF313 expression in testis and much
lower expression in all other tissues examined. ZNF313 was also
expressed in skin, CD4 (186940)-positive T cells, and immature and
mature dendritic cells.
GENE STRUCTURE
Capon et al. (2008) determined that the RNF114 gene contains 6 exons.
MAPPING
By genomic sequence analysis, Capon et al. (2008) mapped the RNF114 gene
to chromosome 20q13.
GENE FUNCTION
Using a protein pull-down assay, Capon et al. (2008) showed that ZNF313
bound ubiquitin via its ubiquitin-interaction motif.
Bijlmakers et al. (2011) noted that the RNF114 paralog RNF125 (610432)
regulates the RIGI (DDX58; 609631)/MDA5 (IFIH1; 606951) innate antiviral
response after double-stranded RNA (dsRNA) activation within the
cytoplasm. This signaling cascade induces production of type I IFN
(e.g., IFNB1; 147640) through activation of IRF3 (603734) and NFKB (see
164011) transcription factors. Bijlmakers et al. (2011) showed that
human RNF114 associated with ubiquitinated proteins and that it was a
soluble protein induced by IFNs and synthetic dsRNA. Overexpression of
RNF114 enhanced NFKB and IRF3 reporter activity and increased type I and
type III (IL29; 607403) IFN mRNA levels. Bijlmakers et al. (2011)
concluded that RNF114 regulates a positive-feedback loop that enhances
dsRNA-induced type I IFN production and that dysregulation of RIGI/MDA5
signaling leads to overproduction of type I IFN, an early mediator of
epithelial inflammation.
MOLECULAR GENETICS
For discussion of a possible association between variation in the RNF114
gene and psoriasis, see PSORS12 (612950).
Onoufriadis et al. (2012) analyzed the RNF114 gene in 485 psoriasis
patients and 842 controls and identified 4 disease-associated variants
in the RNF114 promoter, each of which was present in a single patient.
electrophoretic mobility shift analysis showed that 2 of the variants,
-41C-T and -64C-A, were associated with reduced SP1 (189906)-binding
activity and reduced RNF114 gene expression.
*FIELD* RF
1. Bijlmakers, M.-J.; Kanneganti, S. K.; Barker, J. N.; Trembath,
R. C.; Capon, F.: Functional analysis of the RNF114 psoriasis susceptibility
gene implicates innate immune responses to double-stranded RNA in
disease pathogenesis. Hum. Molec. Genet. 20: 3129-3137, 2011.
2. Capon, F.; Bijlmakers, M.-J.; Wolf, N.; Quaranta, M.; Huffmeier,
U.; Allen, M.; Timms, K.; Abkevich, V.; Gutin, A.; Smith, R.; Warren,
R. B.; Young, H. S.; and 9 others: Identification of ZNF313/RNF114
as a novel psoriasis susceptibility gene. Hum. Molec. Genet. 17:
1938-1945, 2008.
3. Onoufriadis, A.; Simpson, M. A.; Burden, A. D.; Barker, J. N.;
Trembath, R. C.; Capon, F.: Identification of rare, disease-associated
variants in the promoter region of the RNF114 psoriasis susceptibility
gene. J. Invest. Derm. 132: 1297-1299, 2012.
*FIELD* CN
Paul J. Converse - updated: 6/6/2012
*FIELD* CD
Patricia A. Hartz: 12/3/2008
*FIELD* ED
mgross: 06/13/2012
terry: 6/6/2012
carol: 8/4/2009
ckniffin: 8/3/2009
mgross: 12/3/2008
*RECORD*
*FIELD* NO
612451
*FIELD* TI
*612451 RING FINGER PROTEIN 114; RNF114
;;ZINC FINGER PROTEIN 313; ZNF313
*FIELD* TX
read more
CLONING
Capon et al. (2008) identified RNF114, which they called ZNF313, in a
region of chromosome 20 associated with psoriasis (see 177900). The
deduced 25.7-kD protein belongs to a family of RING domain E3 ubiquitin
ligases characterized by 3 zinc fingers and a ubiquitin-interacting
motif. Real-time PCR detected high ZNF313 expression in testis and much
lower expression in all other tissues examined. ZNF313 was also
expressed in skin, CD4 (186940)-positive T cells, and immature and
mature dendritic cells.
GENE STRUCTURE
Capon et al. (2008) determined that the RNF114 gene contains 6 exons.
MAPPING
By genomic sequence analysis, Capon et al. (2008) mapped the RNF114 gene
to chromosome 20q13.
GENE FUNCTION
Using a protein pull-down assay, Capon et al. (2008) showed that ZNF313
bound ubiquitin via its ubiquitin-interaction motif.
Bijlmakers et al. (2011) noted that the RNF114 paralog RNF125 (610432)
regulates the RIGI (DDX58; 609631)/MDA5 (IFIH1; 606951) innate antiviral
response after double-stranded RNA (dsRNA) activation within the
cytoplasm. This signaling cascade induces production of type I IFN
(e.g., IFNB1; 147640) through activation of IRF3 (603734) and NFKB (see
164011) transcription factors. Bijlmakers et al. (2011) showed that
human RNF114 associated with ubiquitinated proteins and that it was a
soluble protein induced by IFNs and synthetic dsRNA. Overexpression of
RNF114 enhanced NFKB and IRF3 reporter activity and increased type I and
type III (IL29; 607403) IFN mRNA levels. Bijlmakers et al. (2011)
concluded that RNF114 regulates a positive-feedback loop that enhances
dsRNA-induced type I IFN production and that dysregulation of RIGI/MDA5
signaling leads to overproduction of type I IFN, an early mediator of
epithelial inflammation.
MOLECULAR GENETICS
For discussion of a possible association between variation in the RNF114
gene and psoriasis, see PSORS12 (612950).
Onoufriadis et al. (2012) analyzed the RNF114 gene in 485 psoriasis
patients and 842 controls and identified 4 disease-associated variants
in the RNF114 promoter, each of which was present in a single patient.
electrophoretic mobility shift analysis showed that 2 of the variants,
-41C-T and -64C-A, were associated with reduced SP1 (189906)-binding
activity and reduced RNF114 gene expression.
*FIELD* RF
1. Bijlmakers, M.-J.; Kanneganti, S. K.; Barker, J. N.; Trembath,
R. C.; Capon, F.: Functional analysis of the RNF114 psoriasis susceptibility
gene implicates innate immune responses to double-stranded RNA in
disease pathogenesis. Hum. Molec. Genet. 20: 3129-3137, 2011.
2. Capon, F.; Bijlmakers, M.-J.; Wolf, N.; Quaranta, M.; Huffmeier,
U.; Allen, M.; Timms, K.; Abkevich, V.; Gutin, A.; Smith, R.; Warren,
R. B.; Young, H. S.; and 9 others: Identification of ZNF313/RNF114
as a novel psoriasis susceptibility gene. Hum. Molec. Genet. 17:
1938-1945, 2008.
3. Onoufriadis, A.; Simpson, M. A.; Burden, A. D.; Barker, J. N.;
Trembath, R. C.; Capon, F.: Identification of rare, disease-associated
variants in the promoter region of the RNF114 psoriasis susceptibility
gene. J. Invest. Derm. 132: 1297-1299, 2012.
*FIELD* CN
Paul J. Converse - updated: 6/6/2012
*FIELD* CD
Patricia A. Hartz: 12/3/2008
*FIELD* ED
mgross: 06/13/2012
terry: 6/6/2012
carol: 8/4/2009
ckniffin: 8/3/2009
mgross: 12/3/2008