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    Zfp513 zinc finger protein 513 [ Mus musculus (house mouse) ]

    Gene ID: 101023, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Zfp513provided by MGI
    Official Full Name
    zinc finger protein 513provided by MGI
    Primary source
    MGI:MGI:2141255
    See related
    Ensembl:ENSMUSG00000043059 AllianceGenome:MGI:2141255
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Znf513; D430028M17Rik
    Summary
    Enables transcription cis-regulatory region binding activity. Predicted to be involved in regulation of transcription, DNA-templated and retina development in camera-type eye. Predicted to be located in nucleus. Is expressed in early conceptus and genitourinary system. Human ortholog(s) of this gene implicated in retinitis pigmentosa 58. Orthologous to human ZNF513 (zinc finger protein 513). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary adult (RPKM 22.0), adrenal adult (RPKM 21.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 B1; 5 17.27 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (31356325..31360007, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (31198981..31202663, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 2B, subunit 4 delta Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:31495236-31495423 Neighboring gene sorting nexin 17 Neighboring gene protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform Neighboring gene STARR-seq mESC enhancer starr_12768 Neighboring gene predicted gene 9970 Neighboring gene nuclear receptor binding protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Li L, et al. Am J Hum Genet, 2010 Sep 10. PMID 20797688, Free PMC Article
    2. An expanded Oct4 interaction network: implications for stem cell biology, development, and disease. Pardo M, et al. Cell Stem Cell, 2010 Apr 2. PMID 20362542, Free PMC Article
    3. Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocyst. Guo G, et al. Dev Cell, 2010 Apr 20. PMID 20412781
    4. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
    5. A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. Yokoyama S, et al. Dev Cell, 2009 Dec. PMID 20059953, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 513

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001177901.1 → NP_001171372.1  zinc finger protein 513 isoform 2

      See identical proteins and their annotated locations for NP_001171372.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC114619, BC058976
      Consensus CDS
      CCDS51458.1
      UniProtKB/Swiss-Prot
      Q6PD29
      Related
      ENSMUSP00000031562.9, ENSMUST00000031562.11
      Conserved Domains (3) summary
      COG5048
      Location:412 → 485
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:150 → 170
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:400 → 423
      zf-H2C2_2; Zinc-finger double domain

    2. NM_175311.4 → NP_780520.3  zinc finger protein 513 isoform 1

      See identical proteins and their annotated locations for NP_780520.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC058976, CJ076079
      Consensus CDS
      CCDS19178.2
      UniProtKB/Swiss-Prot
      Q3U4K1, Q6PD29, Q8BWH6
      Related
      ENSMUSP00000110238.2, ENSMUST00000114590.8
      Conserved Domains (3) summary
      COG5048
      Location:414 → 487
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:152 → 172
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:402 → 425
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      31356325..31360007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503657.3 → XP_006503720.3  zinc finger protein 513 isoform X1

      Conserved Domains (3) summary
      COG5048
      Location:455 → 528
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:193 → 213
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:233 → 258
      zf-H2C2_2; Zinc-finger double domain

    2. XM_030254033.2 → XP_030109893.1  zinc finger protein 513 isoform X2

      Conserved Domains (3) summary
      COG5048
      Location:352 → 425
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:90 → 110
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:130 → 155
      zf-H2C2_2; Zinc-finger double domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PD29.2 GenPept UniProtKB/Swiss-Prot:Q6PD29

    Gene LinkOut

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