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FLASH GENE

Symbol

HR

contributors: mct/npt - updated : 08-02-2016

HGNC name	hairless homolog (mouse)
HGNC id	5172

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005144 19 - 5528 NP_005135 130 1189 all tissues but not in skin 1999 10051399 variant 1, with exon 17 NM_018411 18 splicing 5363 NP_060881 - 1134 specifically in skin 1999 10051399 lacking exon 17

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skin/Tegument skin appendages hair follicle   highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument hair 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