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

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: mouse all
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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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of a High Coverage Vaccination Rate on Human Papillomavirus Infection Prevalence in Young Women: A Cross-sectional Study.
Title: Impact of a High Coverage Vaccination Rate on Human Papillomavirus Infection Prevalence in Young Women: A Cross-sectional Study.
These results suggest that transcriptional repression or mutation of HR may contribute to glioblastoma pathogenesis, which uncovers a role of HR in brain and suggests that modulating HR activity in glioblastoma may be a therapeutic strategy.
Title: Hairless regulates p53 target genes to exert tumor suppressive functions in glioblastoma.
Study in a large, five-generation Han Chinese family with several patients presenting with Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) revealed that the c.1A>G mutation in HR (U2HR) was present in all MUHH patients. No pathogenic variants were found in EPS8L3 or CYLD in any family members but FABP12 (rs536105592 G>A) was identified in the patients with both MUHH and MFT.
Title: Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family.
summary of the current knowledge of hairless protein (HR) bioactions, how HR mutations may be contributing to alopecia as well as to cancer
Title: Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers.
mammalian Hr is a phosphoprotein which can exert cross-talk with the p53 pathway with important implications for the regulation of cell proliferation and differentiation in tissues such as skin and brain where Hr is highly expressed.
Title: The Mammalian Hairless Protein as a DNA Binding Phosphoprotein.
Mutations identified extend the spectrum of mutations in the HR gene resulting in Atrichia with papular lesions.
Title: Disease causing homozygous variants in the human hairless gene.
We have identified two recurrent missense mutations in U2HR c.1A>T (p. Met1?) and c.104A>G (p.*35Wext1263*) in two Chinese Han families with Marie Unna Hereditary Hypotrichosis.
Title: Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis.
we report the first Korean case of Marie Unna hereditary hypotrichosis with a novel heterozygous missense mutation (c.80C>T) in U2HR that has not been documented to date.
Title: Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.
mutation responsible for atrichia with papular lesions in a Pakistani family
Title: Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family.
study reports two cases of Marie Unna hereditary hypotrichosis; a novel nonsense mutation of U2HR was identified in the second case, but no causative mutation in U2HR or EPS8L3 was found in the first case
Title: Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes.

Submit: New GeneRIF Correction See all GeneRIFs (40)

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

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1776 (e-PCR)
- UniSTS:154151

D5S1392 (e-PCR)
- UniSTS:26215

HSC06D102 (e-PCR)
- UniSTS:81044

RH92812 (e-PCR)
- UniSTS:86205

RH12774 (e-PCR)
- UniSTS:41667

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

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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

EC 1.14.11.65

NP_060881.2

EC 1.14.11.65

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.

Genomic

NG_008166.1 RefSeqGene

Range

4508..21099

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005144.5 → NP_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:1100 → 1140

cupin_like; Conserved domain found in cupin and related proteins

cl22851
Location:598 → 625

PHD_SF; PHD finger superfamily
NM_018411.4 → NP_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:598 → 625

PHD_SF; PHD finger superfamily