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HR (gene)

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens

HR
Identifiers
AliasesHR, ALUNC, AU, HSA277165, HYPT4, MUHH, MUHH1, hair growth associated, lysine demethylase and nuclear receptor corepressor, HR lysine demethylase and nuclear receptor corepressor
External IDsOMIM:602302;MGI:96223;HomoloGene:3774;GeneCards:HR;OMA:HR - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for HR
Genomic location for HR
Band8p21.3Start22,114,419bp[1]
End22,133,384bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for HR
Genomic location for HR
Band14|14 D2Start70,789,652bp[2]
End70,810,988bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • skin of abdomen

  • skin of leg

  • right hemisphere of cerebellum

  • mucosa of transverse colon

  • vulva

  • right frontal lobe

  • nipple

  • sural nerve

  • prefrontal cortex

  • parotid gland
Top expressed in
  • lip

  • hair bulb

  • muscle of thigh

  • Epithelium of large intestine

  • inner root sheath

  • esophagus

  • triceps brachii muscle

  • epithelium of rectum

  • skin of back

  • inner enamel epithelium
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55806

15460

Ensembl

ENSG00000168453

ENSMUSG00000022096

UniProt

O43593

Q61645

RefSeq (mRNA)

NM_005144
NM_018411

NM_021877
NM_001379479

RefSeq (protein)

NP_005135
NP_060881

NP_068677
NP_001366408

Location (UCSC)Chr 8: 22.11 – 22.13 MbChr 14: 70.79 – 70.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

HR is agene encodingProtein hairless.[5][6][7]

This gene encodes a protein whose function has been linked to hair growth. A similar protein in rat functions as a transcriptional corepressor forthyroid hormone and interacts withhistone deacetylases.[7]

Human Genetics

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Variations in this gene are involved in low levels of hair (baldness /alopecia /hypotrichosis)[8] Mutations in this gene in humans have been documented in cases of autosomal recessive congenitalalopecia[9] andatrichia with papular lesions.[10][11][12][13][14]

The protein contains aZinc finger domain.[12][10]

See also

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References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000168453 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000022096 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Ahmad W, Zlotogorski A, Panteleyev AA, Lam H, Ahmad M, ul Haque MF, Abdallah HM, Dragan L, Christiano AM (Apr 1999)."Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family".Genomics.56 (2):141–8.doi:10.1006/geno.1998.5699.PMID 10051399.
  6. ^Nothen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, Holler T, Faiyaz ul Haque M, Haque S, Propping P, Ahmad M, Rietschel M (Apr 1998)."A gene for universal congenital alopecia maps to chromosome 8p21-22".Am J Hum Genet.62 (2):386–90.doi:10.1086/301717.PMC 1376893.PMID 9463324.
  7. ^ab"Entrez Gene: HR hairless homolog (mouse)".
  8. ^Zhong Z, Zhong M, Lu Y, Lu L, Wang J, Xu D, Wang F, Xu G, Chen J (March 2016). "Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis".Clinical and Experimental Dermatology.41 (2):175–8.doi:10.1111/ced.12711.PMID 26269244.S2CID 5581940.
  9. ^Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, Ul Haque S, Lam H, Aita VM, Owen J, Deblaquiere M (1998). "Alopecia universalis associated with a mutation in the human hairless gene".Science.279 (5351):720–4.doi:10.1126/science.279.5351.720.PMID 9445480.
  10. ^abAhmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM (1998)."A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers".Am. J. Hum. Genet.63 (4):984–91.doi:10.1086/302069.PMC 1377501.PMID 9758627.
  11. ^Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N (1999)."Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias".Am. J. Hum. Genet.64 (5):1323–9.doi:10.1086/302368.PMC 1377868.PMID 10205263.
  12. ^abAhmad W, Nomura K, McGrath JA, Hashimoto I, Christiano s (1999)."A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia".J. Invest. Dermatol.113 (2):281–3.doi:10.1046/j.1523-1747.1999.00686.x.PMID 10469319.
  13. ^Hillmer AM, Kruse R, Betz RC, Schumacher J, Heyn U, Propping P, Nöthen MM, Cichon S (2001)."Variant 1859G→A (Arg620Gln) of the "Hairless" Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia".Am. J. Hum. Genet.69 (1):235–7.doi:10.1086/321273.PMC 1226040.PMID 11410842.
  14. ^Potter GB, Beaudoin GM, DeRenzo CL, Zarach JM, Chen SH, Thompson CC (2001)."The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor".Genes Dev.15 (20):2687–701.doi:10.1101/gad.916701.PMC 312820.PMID 11641275.

Further reading

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External links

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Coactivators
Corepressors
ATP-dependent remodeling factors
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