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ZNF513 zinc finger protein 513 [ Homo sapiens (human) ]

Gene ID: 130557, updated on 20-Feb-2017
Official Symbol
ZNF513provided by HGNC
Official Full Name
zinc finger protein 513provided by HGNC
Primary source
HGNC:HGNC:26498
See related
Ensembl:ENSG00000163795 MIM:613598; Vega:OTTHUMG00000097783
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP58; HMFT0656
Summary
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 for this gene. [provided by RefSeq, Mar 2011]
Orthologs
Location:
2p23.3
Exon count:
5
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (27377231..27380866, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27600098..27603733, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene uncharacterized LOC105374363 Neighboring gene eukaryotic translation initiation factor 2B subunit delta Neighboring gene sorting nexin 17 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1G Neighboring gene ferritin heavy chain 1 pseudogene 3 Neighboring gene nuclear receptor binding protein 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ32203

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028219.1 RefSeqGene

    Range
    5001..8514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001201459.1NP_001188388.1  zinc finger protein 513 isoform 2

    See identical proteins and their annotated locations for NP_001188388.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AB075875, AI766724, AK096933
    Consensus CDS
    CCDS56114.1
    UniProtKB/Swiss-Prot
    Q8N8E2
    Related
    ENSP00000384874, OTTHUMP00000200791, ENST00000407879, OTTHUMT00000324436
    Conserved Domains (3) summary
    COG5048
    Location:352425
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:90110
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:340363
    zf-H2C2_2; Zinc-finger double domain
  2. NM_144631.5NP_653232.3  zinc finger protein 513 isoform 1

    See identical proteins and their annotated locations for NP_653232.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI766724, BC052282, DB024976
    Consensus CDS
    CCDS1751.1
    UniProtKB/Swiss-Prot
    Q8N8E2
    Related
    ENSP00000318373, OTTHUMP00000123420, ENST00000323703, OTTHUMT00000215026
    Conserved Domains (3) summary
    COG5048
    Location:414487
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:152172
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:402425
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    27377231..27380866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264142.2XP_005264199.1  zinc finger protein 513 isoform X1

    See identical proteins and their annotated locations for XP_005264199.1

    UniProtKB/Swiss-Prot
    Q8N8E2
    Conserved Domains (3) summary
    COG5048
    Location:352425
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:90110
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:340363
    zf-H2C2_2; Zinc-finger double domain
  2. XM_005264143.3XP_005264200.1  zinc finger protein 513 isoform X2

    See identical proteins and their annotated locations for XP_005264200.1

    UniProtKB/Swiss-Prot
    Q8N8E2
    Conserved Domains (3) summary
    COG5048
    Location:246319
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:194214
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:234257
    zf-H2C2_2; Zinc-finger double domain

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    27530046..27533559 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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