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

Gene ID: 55806, updated on 2-Oct-2018

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; Vega:OTTHUMG00000097089
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

Genomic context

Location:
8p21.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (22114419..22133384, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21971932..21988566, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 160 member B2 Neighboring gene nudix hydrolase 18 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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
Hypotrichosis 4
MedGen: C2750815 OMIM: 146550 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ98880

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
chromatin DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone demethylase activity (H3-K9 specific) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
histone H3-K9 demethylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
lysine-specific demethylase hairless
Names
hair growth associated
hairless homolog
protein hairless
NP_005135.2
NP_060881.2
XP_005273626.1
XP_006716430.1

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.

Genomic

  1. NG_008166.1 RefSeqGene

    Range
    4466..21099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005144.4NP_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
    Related
    ENSP00000370826.4, OTTHUMP00000122609, ENST00000381418.8, OTTHUMT00000214213
    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, OTTHUMP00000224807, ENST00000312841.9, OTTHUMT00000375340
    Conserved Domains (1) summary
    cl22851
    Location:598625
    PHD_SF; PHD finger superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    22114419..22133384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273569.2XP_005273626.1  lysine-specific demethylase hairless isoform X1

    Conserved Domains (2) summary
    cl21464
    Location:11011141
    cupin_like; Conserved domain found in cupin and related proteins
    cl22851
    Location:599626
    PHD_SF; PHD finger superfamily
  2. XM_006716367.2XP_006716430.1  lysine-specific demethylase hairless isoform X2

    Conserved Domains (1) summary
    cl22851
    Location:599626
    PHD_SF; PHD finger superfamily
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