Version 5.4
Homo sapiens Gene: KDM6A
Summary
InnateDB Gene IDBG-58811.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KDM6A
Gene Name lysine (K)-specific demethylase 6A
Synonyms bA386N14.2; KABUK2; UTX
Species Homo sapiens
Ensembl Gene ENSG00000147050
Encoded Proteins
IDBP-207
lysine (K)-specific demethylase 6A
IDBP-58813
lysine (K)-specific demethylase 6A
IDBP-368534
lysine (K)-specific demethylase 6A
IDBP-368537
lysine (K)-specific demethylase 6A
IDBP-368539
lysine (K)-specific demethylase 6A
IDBP-368542
lysine (K)-specific demethylase 6A
IDBP-598992
lysine (K)-specific demethylase 6A
IDBP-595912
lysine (K)-specific demethylase 6A
IDBP-806711
lysine (K)-specific demethylase 6A
IDBP-806715
lysine (K)-specific demethylase 6A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. [provided by RefSeq, Nov 2009]
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome X:44873177-45112602
Strand Forward strand
Band p11.3
Transcripts
ENST00000382899 ENSP00000372355
ENST00000377967 ENSP00000367203
ENST00000451692 ENSP00000399980
ENST00000414389 ENSP00000405910
ENST00000433797 ENSP00000398929
ENST00000431196 ENSP00000408230
ENST00000475233
ENST00000485072
ENST00000484732
ENST00000479423
ENST00000536777 ENSP00000437405
ENST00000543216 ENSP00000443078
ENST00000621147 ENSP00000478793
ENST00000611820 ENSP00000483595
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
Cellular Component
GO:0005634 nucleus
GO:0035097 histone methyltransferase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000037369
View Gene Order
ENSBTAG00000003740
Not yet available
Pathways
NETPATH
REACTOME
REACT_228178
HDMs demethylate histones pathway
REACT_172623
Chromatin organization pathway
REACT_172633
Chromatin modifying enzymes pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL Q590H7
UniProt Splice Variant
Entrez Gene 7403
UniGene
RefSeq NM_001291415 NM_001291416 NM_001291417 NM_001291418 NM_021140 XM_005272656 XM_005272659
HUGO HGNC:12637
OMIM 300128
CCDS CCDS14265
HPRD 02131
IMGT
EMBL AY591397
GenPept AAT86073
RNA Seq Atlas 7403

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca