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    HR HR lysine demethylase and nuclear receptor corepressor [ Homo sapiens (human) ]

    Gene ID: 55806, updated on 10-Dec-2024

    Summary

    Official Symbol
    HRprovided by HGNC
    Official Full Name
    HR lysine demethylase and nuclear receptor corepressorprovided by HGNC
    Primary source
    HGNC:HGNC:5172
    See related
    Ensembl:ENSG00000168453 MIM:602302; AllianceGenome:HGNC:5172
    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
    AU; MUHH; ALUNC; HYPT4; MUHH1; HSA277165
    Summary
    This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
    Expression
    Biased expression in skin (RPKM 28.2), esophagus (RPKM 5.5) and 8 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    8p21.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22114419..22131052, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22388371..22405000, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21971932..21988565, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21951526-21952026 Neighboring gene FHF complex subunit HOOK interacting protein 2B Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21961808-21961955 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:21964802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21965271-21966044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21969459-21969958 Neighboring gene nudix hydrolase 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21972531-21973193 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21977874-21978076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21978415-21978914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21981891-21982392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21982393-21982892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21987125-21987702 Neighboring gene HR upstream open reading frame Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997193-21997801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997802-21998409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18981 Neighboring gene receptor accessory protein 4 Neighboring gene leucine rich repeat LGI family member 3

    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

    Associated conditions

    Description Tests
    Alopecia universalis congenita
    MedGen: C1859877 OMIM: 203655 GeneReviews: Not available
    Compare labs
    Atrichia with papular lesions
    MedGen: C1859592 OMIM: 209500 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ98880

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FAD-dependent histone H3K9me/H3K9me2 demethylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H3K9 demethylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H3K9me/H3K9me2 demethylase activity IEA
    Inferred from Electronic Annotation
    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 transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in chromatin remodeling 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
     
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of histone deacetylase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    lysine-specific demethylase hairless
    Names
    [histone H3]-dimethyl-L-lysine(9) demethylase hairless
    hair growth associated
    hairless homolog
    protein hairless
    NP_005135.2
    NP_060881.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008166.1 RefSeqGene

      Range
      4508..21099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005144.5NP_005135.2  lysine-specific demethylase hairless isoform a

      See identical proteins and their annotated locations for NP_005135.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF039196, AJ277165, BM982749, BX109092, DA114279, DA326731
      Consensus CDS
      CCDS6022.1
      UniProtKB/Swiss-Prot
      O43593, Q6GS30, Q96H33, Q9NPE1
      Related
      ENSP00000370826.4, ENST00000381418.9
      Conserved Domains (2) summary
      cl21464
      Location:11001140
      cupin_like; Conserved domain found in cupin and related proteins
      cl22851
      Location:598625
      PHD_SF; PHD finger superfamily
    2. NM_018411.4NP_060881.2  lysine-specific demethylase hairless isoform b

      See identical proteins and their annotated locations for NP_060881.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a protein (isoform 2) that has a shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AF039196, AJ277165, BM982749, BX109092, DA114279, DA326731
      Consensus CDS
      CCDS6023.1
      UniProtKB/Swiss-Prot
      O43593
      Related
      ENSP00000326765.8, ENST00000312841.9
      Conserved Domains (1) summary
      cl22851
      Location:598625
      PHD_SF; PHD finger superfamily

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22114419..22131052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22388371..22405000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)