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KDM6A lysine (K)-specific demethylase 6A [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001291415 Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001291416 Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001291417 Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001291418 Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001291421 Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant 6, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_021140 Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005272656 PREDICTED: Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005272658 PREDICTED: Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005272659 PREDICTED: Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol KDM6A
Entrez Gene ID 7403
Full Name lysine (K)-specific demethylase 6A
Synonyms KABUK2, UTX, bA386N14.2
General protein information
Preferred Names
lysine-specific demethylase 6A
Names
lysine-specific demethylase 6A
histone demethylase UTX
ubiquitously-transcribed TPR gene on the X chromosome
ubiquitously-transcribed TPR protein on the X chromosome
ubiquitously transcribed tetratricopeptide repeat protein X-linked
bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.2

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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014].
Disorder

MIM: 300128

mRNA Protein Product Sequence Price Select
NM_001291415, 611434997 NP_001278344, 611434998 lysine-specific demethylase 6A isoform 1 ORF Sequence $1500.00
NM_001291416, 611434999 NP_001278345, 611435000 lysine-specific demethylase 6A isoform 2 ORF Sequence $1500.00
NM_001291417, 611435002 NP_001278346, 611435003 lysine-specific demethylase 6A isoform 4 ORF Sequence $1500.00
NM_001291418, 611435004 NP_001278347, 611435005 lysine-specific demethylase 6A isoform 5 ORF Sequence $1500.00
NM_001291421, 611435009 NP_001278350, 611435010 lysine-specific demethylase 6A isoform 6 ORF Sequence $1500.00
NM_021140, 611435001 NP_066963, 189011544 lysine-specific demethylase 6A isoform 3 ORF Sequence $1500.00
XM_005272656, 578838075 XP_005272713, 530421555 lysine-specific demethylase 6A isoform X2 ORF Sequence $1500.00
XM_005272658, 578838077 XP_005272715, 530421559 lysine-specific demethylase 6A isoform X4 ORF Sequence $1500.00
XM_005272659, 578838078 XP_005272716, 530421561 lysine-specific demethylase 6A isoform X5 ORF Sequence $1500.00
KEGG
hsa05202Transcriptional misregulation in cancer
Homo sapiens (human)KDM6ANP_066963.2
Pan troglodytes (chimpanzee)KDM6AXP_003954022.1
Macaca mulatta (Rhesus monkey)KDM6AXP_002806253.1
Canis lupus familiaris (dog)KDM6ANP_001184114.1
Bos taurus (cattle)KDM6ANP_001193504.1
Mus musculus (house mouse)Kdm6aNP_033509.1
Rattus norvegicus (Norway rat)Kdm6aXP_006256701.1
Gallus gallus (chicken)KDM6AXP_416762.4
Danio rerio (zebrafish)kdm6aXP_697746.2
Drosophila melanogaster (fruit fly)UtxNP_001188773.1
Caenorhabditis elegansutx-1NP_509450.1
Xenopus (Silurana) tropicalis (western clawed frog)kdm6aNP_001123807.1
Process
IDNameEvidence
GO:0001701in utero embryonic developmentIEA
GO:0001843neural tube closureIEA
GO:0003016respiratory system processIEA
GO:0007507heart developmentIEA
GO:0032525somite rostral/caudal axis specificationIEA
GO:0048333mesodermal cell differentiationIEA
GO:0048570notochord morphogenesisIEA
GO:0051568histone H3-K4 methylationISS
GO:0055114oxidation-reduction processIEA
GO:0060070canonical Wnt signaling pathwayIEA
GO:0071557histone H3-K27 demethylationIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0035097histone methyltransferase complexIDA
Function
IDNameEvidence
GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA bindingIEA
GO:0046872metal ion bindingIEA
GO:0051213dioxygenase activityIEA
GO:0071558histone demethylase activity (H3-K27 specific)IEA
GeneCards KDM6A
PDB 3AVS, 3AVR
UniProt B4E0L8, F5H5V6, Q59HG3, F5H6S1, F8W8R6, Q86TD1, B7ZKN6, B7ZKN5, B7ZKN1, E1U0S6, O15550
Vega OTTHUMG00000021402
MIM 300128
Ensembl ENSG00000147050
HGNC 12637
HPRD 02131

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the KDM6A gene?

The KDM6A gene provides instructions for making an enzyme called lysine-specific demethylase 6A that is found in many organs and tissues of the body. Lysine-specific demethylase 6A functions as a histone demethylase. Histone demethylases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By removing a molecule called a methyl group from histones (a process called demethylation), histone demethylases control (regulate) the activity of certain genes. Lysine-specific demethylase 6A appears to regulate certain genes that are important for development.

Lysine-specific demethylase 6A is also believed to act as a tumor suppressor, which means it normally helps prevent cells from growing and dividing in an uncontrolled way.

Interactant

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