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protein hairless; lysine-specific demethylase hairless (HR)
Function:
- histone demethylase
- specifically demethylates both mono- & dimethylated 'Lys-9' of histone H3
- may act as a transcription regulator controlling phase(s) of hair growth (via targeting of collagens), neural activity, & cell cycle
Cofactor:
- Fe+2; binds 1 Fe+2 ion per subunit
Structure:
- contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs
- the LXXLL motifs are essential for the association with nuclear receptors (putative)
- the JmjC domain & the C6-type Zn+2-finger are required for the demethylation activity
- contains 1 JmjC domain
Compartment: nucleus
Alternative splicing: named isoforms=2
Expression:
- isoform 1 is almost always more abundant than isoform 2
- isoforms 1 & 2 in small intestine > brain, colon > liver, pancreas, spleen, thymus, stomach, salivary gland, appendix, trachea; isoform 1 always the most abundant
- isoform 1 exclusively expressed at low levels in kidney, testis
- isoform 2 exclusively expressed in skin
Pathology:
- defects in hairless are the cause of
a) alopecia universalis congenita
b) atrichia with papular lesions
c) hypotrichosis 4
General
histone demethylase
nuclear protein
zinc finger protein
Properties
SIZE: entity length = 1189 aa
MW = 127 kD
COMPARTMENT: cell nucleus
MOTIF: LXXLL motif 1 {566-570}
active site
Zinc finger
NAME: Zinc finger
SITE: 600-625
EFFECTOR-BOUND: Zn+2
LXXLL motif 2 {758-762}
JmjC {946-1157}
MOTIF: Iron [Fe]-binding site
SITE: 1007-1007
Iron [Fe]-binding site
SITE: 1009-1009
Iron [Fe]-binding site
SITE: 1125-1125
Database Correlations
OMIM correlations
MORBIDMAP 602302
UniProt O43593
Pfam PF02373
Entrez Gene 55806
Kegg hsa:55806
ENZYME 1.14.11
References
UniProt :accession O43593