InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KDM6A

Summary

InnateDB Protein

IDBP-58813.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KDM6A

Protein Name

lysine (K)-specific demethylase 6A

Synonyms

bA386N14.2; KABUK2; UTX;

Species

Homo sapiens

Ensembl Protein

ENSP00000367203

InnateDB Gene

IDBG-58811 (KDM6A)

Protein Structure

UniProt Annotation

Function

Histone demethylase that specifically demethylates 'Lys- 27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A. {ECO:0000269PubMed:17761849, ECO:0000269PubMed:17851529}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Kabuki syndrome 2 (KABUK2) [MIM:300867]: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. {ECO:0000269PubMed:22197486}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	35 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0046872	metal ion binding
GO:0051213	dioxygenase activity
GO:0071558	histone demethylase activity (H3-K27 specific)

Biological Process

GO:0001701	in utero embryonic development
GO:0001843	neural tube closure
GO:0003007	heart morphogenesis
GO:0003016	respiratory system process
GO:0007507	heart development
GO:0010468	regulation of gene expression
GO:0021915	neural tube development
GO:0032525	somite rostral/caudal axis specification
GO:0035264	multicellular organism growth
GO:0048333	mesodermal cell differentiation
GO:0048568	embryonic organ development
GO:0048570	notochord morphogenesis
GO:0051568	histone H3-K4 methylation
GO:0055114	oxidation-reduction process
GO:0060070	canonical Wnt signaling pathway
GO:0071557	histone H3-K27 demethylation
GO:0072358	cardiovascular system development