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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

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