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FLASH GENE
Symbol HR contributors: mct/npt - updated : 08-02-2016
HGNC name hairless homolog (mouse)
HGNC id 5172
Corresponding disease
ALUNC alopecia universalis congenita
APL atrichia with papular lesions
HMU1 hypotrichosis, Marie Unna type 1
Location 8p21.3      Physical location : 21.971.933 - 21.988.565
Synonym name
  • protein hairless
  • alopecia universalis congenitalis (autosomal recessive)
  • Synonym symbol(s) AU, ALUNC, APL, HSA277165, HYPT4, MUHH, MUHH1
    EC.number 3.1.3.48
    DNA
    TYPE functioning gene
    STRUCTURE 16.63 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure an inhibitory upstream ORF in the 5' UTR (U2HR) (Wen 2009)
    MAPPING cloned Y linked N status confirmed
    Map pter - D8S552 - D8S511 - D8S26 - D8S549 - (MSR1 - ATP6V1B2 ) - D8S254 - D8S261 - LPL LPL - D8S258 - D8S280 - D8S282 - [D8S560 - D8S298 - D8S1786 - D8S1733 - D8S1752 - D8S1739 ] - D8S1771 - D8S1809 - D8S278 - D8S283 - cen
    Authors Ahmad (98), Nöthen (98), GeneMap (98), Sprecher (99)
    Text [ALUNC , HR , APL ]
    Physical map
    GFRA2 8p22-p21 GDNF family receptor alpha 2 DOK2 8p21.2 docking protein 2, 56kDa XPO7 8p21 exportin 7 NPM2 8p21.3 nucleophosmin/nucleoplasmin, 2 FGF17 8p21 fibroblast growth factor 17 EPB49 8p21.1 erythrocyte membrane protein band 4.9 (dematin) RAI16 8p21.2 retinoic acid induced 16 FLJ22494 8p21.3 hypothetical protein FLJ22494 HR 8p22-p21 hairless homolog (mouse) FLJ22246 8p21.3 hypothetical protein FLJ22246 LGI3 8p21.2 leucine-rich repeat LGI family, member 3 SFTPC 8p21.2 surfactant, pulmonary-associated protein C BMP1 8p21.2 bone morphogenetic protein 1 PHYHIP 8p21.2 phytanoyl-CoA hydroxylase interacting protein POLR3D 8q21 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa PIWIL2 8p21.2 piwi-like 2 (Drosophila) SLC39A14 8p21.2 solute carrier family 39 (zinc transporter), member 14 PPP3CC 8p21.2 protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma) LOC389639 8 LOC389639 SCAM-1 8p21.2 vinexin beta (SH3-containing adaptor molecule-1) PDLIM2 8p21.2 PDZ and LIM domain 2 (mystique) DBC-1 8p22 p30 DBC protein BIN3 8p21.2 bridging integrator 3 FLJ14107 8p21.2 hypothetical protein FLJ14107 EGR3 8p23-p21 early growth response 3 MGC22776 8p21.2 hypothetical protein MGC22776 RHOBTB2 8p21.2 Rho-related BTB domain containing 2 TNFRSF10B 8p21 tumor necrosis factor receptor superfamily, member 10b
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 5528 130 1189 all tissues but not in skin 1999 10051399
    variant 1, with exon 17
    18 splicing 5363 - 1134 specifically in skin 1999 10051399
    lacking exon 17
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin appendageshairfollicle highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumenthair follicle cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • single zinc finger domain protein
  • a novel and conserved six-cysteine motif
  • a LXXLL motif found in TRIPs (thyroid hormone receptor interactive proteins)
  • a Jumonji C (JmjC) domain that is conserved among a family of proteins with histone demethylase (HDM) activity
  • HOMOLOGY
    interspecies homolog to murine hairless
    Homologene
    FAMILY
  • transcription factor jumonji family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    basic FUNCTION
  • putative transcription factor and transcriptional corepressor
  • involved in hair development but also in the process of ossification during development
  • may have a crucial role in the telogen-anagen transition during hair follicle cycling (Wen 2009)
  • HR and the vitamin D receptor (VDR) play a critical role in the maintenance of hair growth
  • first gene identified to be implicated in hair-cycle regulation
  • transcriptional cofactor hairless (HR) that is required for white adipogenesis
  • putrescine-HR negative regulatory loop may have a large impact on epidermal homeostasis and hair follicle cycling
  • can demethylate monomethylated or dimethylated histone H3 lysine 9 (H3K9me1 or me2)
  • is a H3K9 demethylase that regulates epidermal homeostasis via direct control of its target genes
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HDAC
  • HR interacts with VDR and induces VDR relocalization in the nuclei
  • HR down-regulated DLX3 mRNA expression through suppression of DLX3 promoter activity
  • repressed the expression of Wnt inhibitors, including SOSTDC1, DKKL1, SFRP1, and SFRP2
  • exerts its proadipogenic effects by regulating the expression of PPARG, one of the central adipogenic transcription factors
  • expression of MSX2 was down-regulated by HR, which in turn down-regulated expression of FOXN1 and LEF1, MSX2 target genes
  • VDR-mediated control of DKKL1, SOSTDC1, and HR gene expression in keratinocytes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ALUNC , APL , HMU1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target regulatory role of the U2HR offer a potential target for the development of therapeutic drugs to treat some forms of human hair loss or promote hair removal (Wen 2009)
    ANIMAL & CELL MODELS