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

    Gene ID: 130557, updated on 2-May-2024

    Summary

    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; AllianceGenome:HGNC:26498
    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; Zfp513; 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]
    Expression
    Ubiquitous expression in testis (RPKM 9.7), prostate (RPKM 6.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ZNF513 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27377235..27380734, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27419630..27423129, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27600102..27603601, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:27579025-27579638 and GRCh37_chr2:27579639-27580252 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27582391-27583132 Neighboring gene GTF3C2 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27592451-27593412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27593413-27594374 Neighboring gene eukaryotic translation initiation factor 2B subunit delta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27601343-27602213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11297 Neighboring gene sorting nexin 17 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27618171-27618672 Neighboring gene ferritin heavy chain 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15507 Neighboring gene nuclear receptor binding protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32203

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5011..8510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001201459.2NP_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, AK096933
      Consensus CDS
      CCDS56114.1
      UniProtKB/Swiss-Prot
      Q8N8E2
      Related
      ENSP00000384874.1, ENST00000407879.1
      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_144631.6NP_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
      A8K3S5, B7WP71, Q3ZCU1, Q68CJ1, Q86UZ3, Q8N8E2, Q8NDL8, Q96ML3
      Related
      ENSP00000318373.6, ENST00000323703.11
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27377235..27380734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264143.4XP_005264200.1  zinc finger protein 513 isoform X1

      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 T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27419630..27423129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340542.1XP_054196517.1  zinc finger protein 513 isoform X1