Hr lysine demethylase and nuclear receptor corepressor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hrprovided by MGI
Official Full Name: lysine demethylase and nuclear receptor corepressorprovided by MGI
Primary source: MGI:MGI:96223
See related: Ensembl:ENSMUSG00000022096 AllianceGenome:MGI:96223
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: hr; bldy; ALUNC; rh-bmh
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 ORF that exists upstream of the primary ORF. Mutations in this upstream ORF, U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss in human. [provided by RefSeq, Oct 2014]
Expression: Broad expression in stomach adult (RPKM 14.5), cerebellum adult (RPKM 12.9) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D2; 14 36.32 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (70789644..70810988)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (70554056..70573548)

Chromosome 14 - NC_000080.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings suggest that Hr mRNA expression is regulated at the post-transcriptional level via IRES-mediated translation control through interaction with PCPB2, but not in MUHH.
Title: Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA.
Changes in the expression of Hr result in hair loss or regrowth.
Title: Transgenic mice display hair loss and regrowth overexpressing mutant Hr gene.
hypomorphic mutation essential for the full development of diet-induced pruritic atopic skin
Title: Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice.
This study examinedthe uncommon phenotype and using microarray analyses and functional studies, we found that beta-catenin was mediated by Hr. Progenitor keratinocytes from the bulge region differentiate into both epidermis and sebaceous glands, and fail to adopt the hair keratinocytes fate in the mutant scalp, due to the decreased Wnt/beta-catenin signaling in the absence of the hairless protein.
Title: Hairless controls hair fate decision via Wnt/β-catenin signaling.
the putrescine-HR negative regulatory loop may have a large impact on epidermal homeostasis and hair follicle cycling
Title: Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis.
HR regulates expression of genes in the MSX2 regulatory pathway, which explains abnormal hair follicle formation in Hr(Hp)/Hr(Hp) skin.
Title: Hairless down-regulates expression of Msx2 and its related target genes in hair follicles.
Mutation within mouse hr protein leads to phenotype of hairlessness.
Title: Zygosity determination in hairless mice by PCR based on Hr(hr) gene analysis.
Hairless is required for adipocyte differentiation.
Title: Hairless promotes PPARγ expression and is required for white adipogenesis.
Hr loss results in a state of uncontrolled epidermal proliferation that promotes tumor development, and Hr mutant mice should no longer be considered merely hairless 'wild-type' mice
Title: Loss of hairless confers susceptibility to UVB-induced tumorigenesis via disruption of NF-kappaB signaling.
regulation of Dlx3 by HR affects the IRS keratin expression, thus modulating the formation of IRS of hair follicle.
Title: Hairless plays a role in formation of inner root sheath via regulation of Dlx3 gene.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (17) 1 citation
Transgenic (1) 1 citation
Targeted (1) 1 citation
Chemically induced (ENU) (11) 1 citation
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

hr (e-PCR), detects polymorphism
- UniSTS:143402

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	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 histone deacetylase binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear thyroid hormone receptor binding	ISO Inferred from Sequence Orthology more info
enables nuclear vitamin D receptor binding	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of histone deacetylase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of histone deacetylase complex	ISO Inferred from Sequence Orthology more info
located_in nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: lysine-specific demethylase hairless

Names: [histone H3]-dimethyl-L-lysine(9) demethylase hairless; hairless; protein hairless

NP_001366408.1

EC 1.14.11.65

NP_001411402.1

EC 1.14.11.65

NP_001411403.1

EC 1.14.11.65

NP_068677.2

EC 1.14.11.65

XP_036014366.1

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.

mRNA and Protein(s)

NM_001379479.1 → NP_001366408.1 lysine-specific demethylase hairless

Status: REVIEWED

Source sequence(s)

AC122268

UniProtKB/Swiss-Prot

Q61645, Q80Y47

UniProtKB/TrEMBL

Q4QY90

Related

ENSMUSP00000124816.2, ENSMUST00000161069.8

Conserved Domains (1) summary

cl40423
Location:1088 → 1133

cupin_RmlC-like; RmlC-like cupin superfamily
NM_001424473.1 → NP_001411402.1 lysine-specific demethylase hairless

Status: REVIEWED

Source sequence(s)

AC122268

UniProtKB/Swiss-Prot

Q61645, Q80Y47
NM_001424474.1 → NP_001411403.1 lysine-specific demethylase hairless

Status: REVIEWED

Source sequence(s)

AC122268

UniProtKB/Swiss-Prot

Q61645, Q80Y47
NM_021877.3 → NP_068677.2 lysine-specific demethylase hairless

See identical proteins and their annotated locations for NP_068677.2

Status: REVIEWED

Source sequence(s)

BC023043, BC049182

Consensus CDS

CCDS27257.1

UniProtKB/Swiss-Prot

Q61645, Q80Y47

UniProtKB/TrEMBL

Q4QY90

Related

ENSMUSP00000022691.8, ENSMUST00000022691.14

Conserved Domains (1) summary

cl40423
Location:1088 → 1133

cupin_RmlC-like; RmlC-like cupin superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

70789644..70810988

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036158473.1 → XP_036014366.1 lysine-specific demethylase hairless isoform X1

UniProtKB/Swiss-Prot

Q61645, Q80Y47

UniProtKB/TrEMBL

Q4QY90

Conserved Domains (1) summary

cl40423
Location:1088 → 1133

cupin_RmlC-like; RmlC-like cupin superfamily