ZN513_HUMAN
ID ZN513_HUMAN Reviewed; 541 AA.
AC Q8N8E2; A8K3S5; B7WP71; Q3ZCU1; Q68CJ1; Q86UZ3; Q8NDL8; Q96ML3;
DT 23-NOV-2004, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Zinc finger protein 513;
GN Name=ZNF513;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 160-541 (ISOFORMS 1/2).
RC TISSUE=Placenta, and Small intestine;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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] (ISOFORM 2).
RC TISSUE=Hepatoblastoma;
RX PubMed=15221005; DOI=10.1038/sj.onc.1207782;
RA Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S.,
RA Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S.,
RA Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.;
RT "Expression profiling and differential screening between hepatoblastomas
RT and the corresponding normal livers: identification of high expression of
RT the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.";
RL Oncogene 23:5901-5911(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
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., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., 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., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., 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., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 164-541 (ISOFORMS 1/2).
RC TISSUE=Brain, and Skin;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, SUBUNIT, VARIANT RP58
RP ARG-339, AND CHARACTERIZATION OF VARIANT RP58 ARG-339.
RX PubMed=20797688; DOI=10.1016/j.ajhg.2010.08.003;
RA Li L., Nakaya N., Chavali V.R., Ma Z., Jiao X., Sieving P.A., Riazuddin S.,
RA Tomarev S.I., Ayyagari R., Riazuddin S.A., Hejtmancik J.F.;
RT "A mutation in ZNF513, a putative regulator of photoreceptor development,
RT causes autosomal-recessive retinitis pigmentosa.";
RL Am. J. Hum. Genet. 87:400-409(2010).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-85, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Transcriptional regulator that plays a role in retinal
CC development and maintenance. {ECO:0000269|PubMed:20797688}.
CC -!- SUBUNIT: Binds DNA. Can associate with the proximal promoter regions of
CC PAX6 and SP4, and their known targets including ARR3, RHO, OPN1MW2 and
CC OPN1SW. {ECO:0000269|PubMed:20797688}.
CC -!- INTERACTION:
CC Q8N8E2; Q9Y6K1: DNMT3A; NbExp=3; IntAct=EBI-10279993, EBI-923653;
CC Q8N8E2; Q92993: KAT5; NbExp=3; IntAct=EBI-10279993, EBI-399080;
CC Q8N8E2; P31930: UQCRC1; NbExp=3; IntAct=EBI-10279993, EBI-1052596;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20797688}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N8E2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N8E2-2; Sequence=VSP_035625;
CC Name=3;
CC IsoId=Q8N8E2-3; Sequence=VSP_035624;
CC -!- TISSUE SPECIFICITY: In the retina, expressed in the outer and inner
CC nuclear layers, and the ganglion cell layer.
CC {ECO:0000269|PubMed:20797688}.
CC -!- DISEASE: Retinitis pigmentosa 58 (RP58) [MIM:613617]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:20797688}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71274.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK056765; BAB71274.1; ALT_INIT; mRNA.
DR EMBL; AK096933; BAC04903.1; -; mRNA.
DR EMBL; AK290690; BAF83379.1; -; mRNA.
DR EMBL; AB075875; BAD38657.1; -; mRNA.
DR EMBL; AL833946; CAD38801.1; -; mRNA.
DR EMBL; AC074117; AAY14845.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00583.1; -; Genomic_DNA.
DR EMBL; BC040650; AAH40650.1; -; mRNA.
DR EMBL; BC052282; AAH52282.1; -; mRNA.
DR CCDS; CCDS1751.1; -. [Q8N8E2-1]
DR CCDS; CCDS56114.1; -. [Q8N8E2-2]
DR RefSeq; NP_001188388.1; NM_001201459.1. [Q8N8E2-2]
DR RefSeq; NP_653232.3; NM_144631.5. [Q8N8E2-1]
DR RefSeq; XP_005264199.1; XM_005264142.2. [Q8N8E2-2]
DR RefSeq; XP_005264200.1; XM_005264143.3.
DR AlphaFoldDB; Q8N8E2; -.
DR SMR; Q8N8E2; -.
DR BioGRID; 126240; 20.
DR IntAct; Q8N8E2; 8.
DR STRING; 9606.ENSP00000318373; -.
DR iPTMnet; Q8N8E2; -.
DR PhosphoSitePlus; Q8N8E2; -.
DR BioMuta; ZNF513; -.
DR DMDM; 212276483; -.
DR EPD; Q8N8E2; -.
DR jPOST; Q8N8E2; -.
DR MassIVE; Q8N8E2; -.
DR PaxDb; Q8N8E2; -.
DR PeptideAtlas; Q8N8E2; -.
DR PRIDE; Q8N8E2; -.
DR ProteomicsDB; 72407; -. [Q8N8E2-1]
DR ProteomicsDB; 72408; -. [Q8N8E2-2]
DR ProteomicsDB; 72409; -. [Q8N8E2-3]
DR Antibodypedia; 55939; 77 antibodies from 18 providers.
DR DNASU; 130557; -.
DR Ensembl; ENST00000323703.11; ENSP00000318373.6; ENSG00000163795.14. [Q8N8E2-1]
DR Ensembl; ENST00000407879.1; ENSP00000384874.1; ENSG00000163795.14. [Q8N8E2-2]
DR GeneID; 130557; -.
DR KEGG; hsa:130557; -.
DR MANE-Select; ENST00000323703.11; ENSP00000318373.6; NM_144631.6; NP_653232.3.
DR UCSC; uc002rkj.4; human. [Q8N8E2-1]
DR CTD; 130557; -.
DR DisGeNET; 130557; -.
DR GeneCards; ZNF513; -.
DR GeneReviews; ZNF513; -.
DR HGNC; HGNC:26498; ZNF513.
DR HPA; ENSG00000163795; Low tissue specificity.
DR MalaCards; ZNF513; -.
DR MIM; 613598; gene.
DR MIM; 613617; phenotype.
DR neXtProt; NX_Q8N8E2; -.
DR OpenTargets; ENSG00000163795; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA134872812; -.
DR VEuPathDB; HostDB:ENSG00000163795; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000158687; -.
DR HOGENOM; CLU_002678_58_1_1; -.
DR InParanoid; Q8N8E2; -.
DR OMA; SICGYSC; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8N8E2; -.
DR TreeFam; TF350015; -.
DR PathwayCommons; Q8N8E2; -.
DR SignaLink; Q8N8E2; -.
DR BioGRID-ORCS; 130557; 23 hits in 1103 CRISPR screens.
DR ChiTaRS; ZNF513; human.
DR GenomeRNAi; 130557; -.
DR Pharos; Q8N8E2; Tbio.
DR PRO; PR:Q8N8E2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N8E2; protein.
DR Bgee; ENSG00000163795; Expressed in right testis and 152 other tissues.
DR ExpressionAtlas; Q8N8E2; baseline and differential.
DR Genevisible; Q8N8E2; HS.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0010468; P:regulation of gene expression; IBA:GO_Central.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0060041; P:retina development in camera-type eye; IMP:UniProtKB.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 3.
DR SMART; SM00355; ZnF_C2H2; 8.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 7.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; DNA-binding; Metal-binding; Nucleus;
KW Phosphoprotein; Reference proteome; Repeat; Retinitis pigmentosa;
KW Sensory transduction; Transcription; Transcription regulation; Vision;
KW Zinc; Zinc-finger.
FT CHAIN 1..541
FT /note="Zinc finger protein 513"
FT /id="PRO_0000047632"
FT ZN_FING 150..172
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 178..200
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 206..228
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 360..382
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 388..410
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 416..438
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 444..466
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 472..494
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..118
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 492..541
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 8..25
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 41..59
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 85
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 96
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PD29"
FT VAR_SEQ 1..334
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_035624"
FT VAR_SEQ 1..62
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15221005"
FT /id="VSP_035625"
FT VARIANT 339
FT /note="C -> R (in RP58; cannot bind to promoters of
FT retinal-specific genes; dbSNP:rs267607182)"
FT /evidence="ECO:0000269|PubMed:20797688"
FT /id="VAR_064926"
FT CONFLICT 166
FT /note="K -> R (in Ref. 2; BAD38657)"
FT /evidence="ECO:0000305"
FT CONFLICT 440
FT /note="G -> S (in Ref. 1; BAF83379)"
FT /evidence="ECO:0000305"
FT CONFLICT 494
FT /note="H -> Y (in Ref. 1; BAC04903)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 541 AA; 57882 MW; C35D2912AE8F1C73 CRC64;
MPRRKQSHPQ PVKCEGVKVD TEDSLDEGPG ALVLESDLLL GQDLEFEEEE EEEEGDGNSD
QLMGFERDSE GDSLGARPGL PYGLSDDESG GGRALSAESE VEEPARGPGE ARGERPGPAC
QLCGGPTGEG PCCGAGGPGG GPLLPPRLLY SCRLCTFVSH YSSHLKRHMQ THSGEKPFRC
GRCPYASAQL VNLTRHTRTH TGEKPYRCPH CPFACSSLGN LRRHQRTHAG PPTPPCPTCG
FRCCTPRPAR PPSPTEQEGA VPRRPEDALL LPDLSLHVPP GGASFLPDCG QLRGEGEGLC
GTGSEPLPEL LFPWTCRGCG QELEEGEGSR LGAAMCGRCM RGEAGGGASG GPQGPSDKGF
ACSLCPFATH YPNHLARHMK THSGEKPFRC ARCPYASAHL DNLKRHQRVH TGEKPYKCPL
CPYACGNLAN LKRHGRIHSG DKPFRCSLCN YSCNQSMNLK RHMLRHTGEK PFRCATCAYT
TGHWDNYKRH QKVHGHGGAG GPGLSASEGW APPHSPPSVL SSRGPPALGT AGSRAVHTDS
S
