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OVOL1 ovo like transcriptional repressor 1 [ Homo sapiens (human) ]

Gene ID: 5017, updated on 6-Sep-2022

Summary

Official Symbol
OVOL1provided by HGNC
Official Full Name
ovo like transcriptional repressor 1provided by HGNC
Primary source
HGNC:HGNC:8525
See related
Ensembl:ENSG00000172818 MIM:602313; AllianceGenome:HGNC:8525
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
HOVO1
Summary
This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]
Expression
Biased expression in esophagus (RPKM 10.0), testis (RPKM 9.1) and 9 other tissues See more
Orthologs
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Genomic context

See OVOL1 in Genome Data Viewer
Location:
11q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65787063..65797214)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65781531..65791682)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65554534..65564685)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 26 Neighboring gene adaptor related protein complex 5 subunit beta 1 Neighboring gene uncharacterized LOC124902693 Neighboring gene OVOL1 antisense RNA 1 Neighboring gene sorting nexin 32 Neighboring gene cofilin 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?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
EBI GWAS Catalog
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
EBI GWAS Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in epidermal cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in germline cell cycle switching, mitotic to meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in meiotic cell cycle phase transition IEA
Inferred from Electronic Annotation
more info
 
involved_in mesoderm development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of meiotic cell cycle phase transition IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in skin development IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
putative transcription factor Ovo-like 1
Names
ovo homolog-like 1
ovo like zinc finger 1
ovo-like 1(Drosophila)

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_004561.4NP_004552.2  putative transcription factor Ovo-like 1

    See identical proteins and their annotated locations for NP_004552.2

    Status: REVIEWED

    Source sequence(s)
    BC059408, BX648725, CV572438, DA585109
    Consensus CDS
    CCDS8112.1
    UniProtKB/Swiss-Prot
    O14753, Q6PCB1
    Related
    ENSP00000337862.3, ENST00000335987.8
    Conserved Domains (2) summary
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:160185
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65787063..65797214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65781531..65791682
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)