Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 130557, updated on 8-Oct-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
      ENSP00000384874.1, OTTHUMP00000200791, ENST00000407879.1, 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
      ENSP00000318373.6, OTTHUMP00000123420, ENST00000323703.10, 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:192217
      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)
    Support Center