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Gene id 130557
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol ZNF513   Gene   UCSC   Ensembl
Aliases HMFT0656, RP58, Zfp513
Gene name zinc finger protein 513
Alternate names zinc finger protein 513,
Gene location 2p23.3 (27380865: 27377230)     Exons: 5     NC_000002.12
Gene summary(Entrez) The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found
OMIM 609176

Protein Summary

Protein general information Q8N8E2  

Name: Zinc finger protein 513

Length: 541  Mass: 57882

Tissue specificity: In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer. {ECO

Sequence MPRRKQSHPQPVKCEGVKVDTEDSLDEGPGALVLESDLLLGQDLEFEEEEEEEEGDGNSDQLMGFERDSEGDSLG
ARPGLPYGLSDDESGGGRALSAESEVEEPARGPGEARGERPGPACQLCGGPTGEGPCCGAGGPGGGPLLPPRLLY
SCRLCTFVSHYSSHLKRHMQTHSGEKPFRCGRCPYASAQLVNLTRHTRTHTGEKPYRCPHCPFACSSLGNLRRHQ
RTHAGPPTPPCPTCGFRCCTPRPARPPSPTEQEGAVPRRPEDALLLPDLSLHVPPGGASFLPDCGQLRGEGEGLC
GTGSEPLPELLFPWTCRGCGQELEEGEGSRLGAAMCGRCMRGEAGGGASGGPQGPSDKGFACSLCPFATHYPNHL
ARHMKTHSGEKPFRCARCPYASAHLDNLKRHQRVHTGEKPYKCPLCPYACGNLANLKRHGRIHSGDKPFRCSLCN
YSCNQSMNLKRHMLRHTGEKPFRCATCAYTTGHWDNYKRHQKVHGHGGAGGPGLSASEGWAPPHSPPSVLSSRGP
PALGTAGSRAVHTDSS
Structural information
Interpro:  IPR036236  IPR013087  
Prosite:   PS00028 PS50157
STRING:   ENSP00000318373
Other Databases GeneCards:  ZNF513  Malacards:  ZNF513

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
IBA molecular function
GO:0010468 regulation of gene expres
sion
IBA biological process
GO:0005634 nucleus
IBA cellular component
GO:0005634 nucleus
IDA cellular component
GO:0003677 DNA binding
IDA molecular function
GO:0060041 retina development in cam
era-type eye
IMP biological process
GO:0046872 metal ion binding
IEA molecular function
GO:0050896 response to stimulus
IEA biological process
GO:0007601 visual perception
IEA biological process
GO:0005634 nucleus
IEA cellular component
GO:0003677 DNA binding
IEA molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005634 nucleus
IEA cellular component
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
IDA molecular function
Associated diseases References
Retinitis pigmentosa KEGG:H00527
Retinitis pigmentosa KEGG:H00527
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract