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
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
lysine (K)-specific demethylase 6A
Protein Structure
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
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
HDMs demethylate histones pathway
Chromatin organization pathway
Chromatin modifying enzymes pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O15550
TrEMBL F5H6S1 F8W8R6 Q590H7 Q59HG3 Q68D33
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 AB208795 AC136488 AF000992 AF000993 AL133545 AL138744 AY591397 BC093868 BC113381 CH471141 CR749602
GenPept AAC51839 AAC51840 AAH93868 AAI13382 AAT86073 BAD92032 CAH18397 CAI40508 CAI41479 EAW59368
ImmGen KDM6A (murine)
RNA Seq Atlas 7403