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

Gene ID: 5017, updated on 1-Jun-2020

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
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

Genomic context

See OVOL1 in Genome Data Viewer
Location:
11q13.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65787063..65797219)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65554505..65564690)

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 OVOL1 antisense RNA 1 Neighboring gene sorting nexin 32 Neighboring gene cofilin 1 Neighboring gene MUS81 structure-specific endonuclease subunit Neighboring gene EGF containing fibulin extracellular matrix protein 2

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
epidermal cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
germline cell cycle switching, mitotic to meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
mesoderm development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of meiotic cell cycle phase transition IEA
Inferred from Electronic Annotation
more info
 
negative regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
skin development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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)

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
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65787063..65797219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545067.2XP_011543369.1  putative transcription factor Ovo-like 1 isoform X1

    See identical proteins and their annotated locations for XP_011543369.1

    UniProtKB/TrEMBL
    G3V1B0
    Conserved Domains (3) summary
    sd00017
    Location:5878
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:98123
    zf-H2C2_2; Zinc-finger double domain
    pfam16278
    Location:66106
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  2. XM_017017837.1XP_016873326.1  putative transcription factor Ovo-like 1 isoform X1

    UniProtKB/TrEMBL
    G3V1B0
    Conserved Domains (3) summary
    sd00017
    Location:5878
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:98123
    zf-H2C2_2; Zinc-finger double domain
    pfam16278
    Location:66106
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  3. XM_005274018.3XP_005274075.1  putative transcription factor Ovo-like 1 isoform X1

    See identical proteins and their annotated locations for XP_005274075.1

    UniProtKB/TrEMBL
    G3V1B0
    Conserved Domains (3) summary
    sd00017
    Location:5878
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:98123
    zf-H2C2_2; Zinc-finger double domain
    pfam16278
    Location:66106
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  4. XM_011545068.3XP_011543370.1  putative transcription factor Ovo-like 1 isoform X1

    See identical proteins and their annotated locations for XP_011543370.1

    UniProtKB/TrEMBL
    G3V1B0
    Conserved Domains (3) summary
    sd00017
    Location:5878
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:98123
    zf-H2C2_2; Zinc-finger double domain
    pfam16278
    Location:66106
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  5. XM_017017838.2XP_016873327.1  putative transcription factor Ovo-like 1 isoform X1

    UniProtKB/TrEMBL
    G3V1B0
    Related
    ENSP00000434220.1, ENST00000532448.1
    Conserved Domains (3) summary
    sd00017
    Location:5878
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:98123
    zf-H2C2_2; Zinc-finger double domain
    pfam16278
    Location:66106
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
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