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

    Gene ID: 5017, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See OVOL1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65787063..65797214)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65781531..65791682)
    RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65544816-65545720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65547529-65548431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65549161-65549818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65553239-65554220 Neighboring gene adaptor related protein complex 5 subunit beta 1 Neighboring gene uncharacterized LOC124902693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5005 Neighboring gene OVOL1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65563211-65563711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65565291-65565814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65568897-65569617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3557 Neighboring gene Sharpr-MPRA regulatory region 4974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3558 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65601289-65601501 Neighboring gene sorting nexin 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5009 Neighboring gene Sharpr-MPRA regulatory region 3467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65618925-65619786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5011 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65625223-65625763 Neighboring gene cofilin 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Characterization of a human homolog (OVOL1) of the Drosophila ovo gene, which maps to chromosome 11q13. Chidambaram A, et al. Mamm Genome, 1997 Dec. PMID 9383297
    2. Preferential expression of OVOL1 in inner root sheath of hair, sebaceous gland, eccrine duct and their neoplasms in human skin. Mitoma C, et al. Fukuoka Igaku Zasshi, 2014 Aug. PMID 25509883
    3. OVO-like 1 regulates progenitor cell fate in human trophoblast development. Renaud SJ, et al. Proc Natl Acad Sci U S A, 2015 Nov 10. PMID 26504231, Free PMC Article
    4. OVOL1 Influences the Determination and Expansion of iPSC Reprogramming Intermediates. Kagawa H, et al. Stem Cell Reports, 2019 Feb 12. PMID 30639212, Free PMC Article
    5. Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis. Hemida AS, et al. Diagn Pathol, 2024 Jun 21. PMID 38907248, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis.
      Title: Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis.
    2. OVOL1 inhibits breast cancer cell invasion by enhancing the degradation of TGF-beta type I receptor.
      Title: OVOL1 inhibits breast cancer cell invasion by enhancing the degradation of TGF-β type I receptor.
    3. Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population.
      Title: Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population.
    4. OVOL1 Regulates Psoriasis-Like Skin Inflammation and Epidermal Hyperplasia.
      Title: OVOL1 Regulates Psoriasis-Like Skin Inflammation and Epidermal Hyperplasia.
    5. The transcription factor OVOL1 as a potential regulator of an alternative epithelial cell fate.
      Title: OVOL1 Influences the Determination and Expansion of iPSC Reprogramming Intermediates.
    6. OVOL1 is an integral part of the aryl hydrocarbon receptor-mediated mechanism of Filaggrin expression in human keratinocytes.
      Title: Aryl hydrocarbon receptor activation restores filaggrin expression via OVOL1 in atopic dermatitis.
    7. Taken together, this study suggests that the OVOL1-OVOL2 axis is a key modulator of c-Myc expression in the shift from in situ epidermal malignancy (Bowen's disease) to invasive squamous cell carcinoma.
      Title: Potential role of the OVOL1-OVOL2 axis and c-Myc in the progression of cutaneous squamous cell carcinoma.
    8. that the OVOL1-OVOL2 axis may actively contribute to cell differentiation and proliferation in the hair bulb
      Title: Activation of the OVOL1-OVOL2 Axis in the Hair Bulb and in Pilomatricoma.
    9. OVOL1 is a regulator of trophoblast progenitor cell fate during human trophoblast development.
      Title: OVO-like 1 regulates progenitor cell fate in human trophoblast development.
    10. KIF3A and OVOL1 are involved in the development of Atopic dermatitis in the Chinese pediatric population.
      Title: Correlation of KIF3A and OVOL1, but not ACTL9, with atopic dermatitis in Chinese pediatric patients.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in epidermal cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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
    		  

    General protein information

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    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_004561.4 → NP_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
      UniProtKB/TrEMBL
      A8K6P6
      Related
      ENSP00000337862.3, ENST00000335987.8
      Conserved Domains (2) summary
      sd00017
      Location:120 → 140
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:160 → 185
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)

    mRNA and Protein(s)

    1. XM_054368987.1 → XP_054224962.1  putative transcription factor Ovo-like 1 isoform X1

      UniProtKB/TrEMBL
      G3V1B0

    2. XM_054368984.1 → XP_054224959.1  putative transcription factor Ovo-like 1 isoform X1

      UniProtKB/TrEMBL
      G3V1B0

    3. XM_054368985.1 → XP_054224960.1  putative transcription factor Ovo-like 1 isoform X1

      UniProtKB/TrEMBL
      G3V1B0

    4. XM_054368986.1 → XP_054224961.1  putative transcription factor Ovo-like 1 isoform X1

      UniProtKB/TrEMBL
      G3V1B0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14753.3 GenPept UniProtKB/Swiss-Prot:O14753

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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