ATRX - Gene info - The Human Protein Atlas

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ATRX

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TISSUE

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SUBCELL

CELL LINE

CANCER

GENE INFORMATION

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Gene name	ATRX (HGNC Symbol)
Synonyms	JMS, RAD54, XH2, XNP
Description	Alpha thalassemia/mental retardation syndrome X-linked (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]
Chromosome	X
Cytoband	q21.1
Chromosome location (bp)	77504878 - 77786269
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000085224 (version 78.38)
Entrez gene	546
UniProt	P46100 (UniProt - Evidence at protein level)
neXtProt	NX_P46100
Antibodypedia	ATRX antibodies

PROTEIN VIEW

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ATRX-001		ATRX-002		ATRX-004		ATRX-005		ATRX-007		ATRX-009		ATRX-010		ATRX-012		ATRX-013		ATRX-015

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
ATRX-001	ENSP00000362441 ENST00000373344	P46100 Show all » « Hide P46100 [Direct mapping] Transcriptional regulator ATRX A4LAA3 [Target identity:100%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked {ECO:0000313\|EMBL:ABO43036.1} B4DLE1 [Target identity:26%; Query identity:100%] cDNA FLJ56848, highly similar to Transcriptional regulator ATRX {ECO:0000313\|EMBL:BAG59503.1} A0A067XLH7 [Target identity:1%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked {ECO:0000313\|EMBL:AGL61631.1} A0A068A261 [Target identity:0%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked protein {ECO:0000313\|EMBL:AIA09020.1}	Show » « Hide Enzymes ENZYME proteins Hydrolases SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000228 [nuclear chromosome] GO:0000792 [heterochromatin] GO:0003677 [DNA binding] GO:0003678 [DNA helicase activity] GO:0003682 [chromatin binding] GO:0004386 [helicase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005720 [nuclear heterochromatin] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0006200 [ATP catabolic process] GO:0006281 [DNA repair] GO:0006306 [DNA methylation] GO:0006310 [DNA recombination] GO:0006334 [nucleosome assembly] GO:0006336 [DNA replication-independent nucleosome assembly] GO:0006338 [chromatin remodeling] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007283 [spermatogenesis] GO:0008270 [zinc ion binding] GO:0010571 [positive regulation of nuclear cell cycle DNA replication] GO:0015616 [DNA translocase activity] GO:0030330 [DNA damage response, signal transduction by p53 class mediator] GO:0030900 [forebrain development] GO:0031297 [replication fork processing] GO:0031933 [telomeric heterochromatin] GO:0032206 [positive regulation of telomere maintenance] GO:0032508 [DNA duplex unwinding] GO:0035064 [methylated histone binding] GO:0042393 [histone binding] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0060009 [Sertoli cell development] GO:0070087 [chromo shadow domain binding] GO:0070603 [SWI/SNF superfamily-type complex] GO:0072520 [seminiferous tubule development] GO:0072711 [cellular response to hydroxyurea] GO:1901581 [negative regulation of telomeric RNA transcription from RNA pol II promoter]	2492	282.6	No	0
ATRX-002	ENSP00000378967 ENST00000395603	P46100 Show all » « Hide P46100 [Direct mapping] Transcriptional regulator ATRX B4DLE1 [Target identity:26%; Query identity:100%] cDNA FLJ56848, highly similar to Transcriptional regulator ATRX {ECO:0000313\|EMBL:BAG59503.1} A0A067XLH7 [Target identity:1%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked {ECO:0000313\|EMBL:AGL61631.1} A0A068A261 [Target identity:0%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked protein {ECO:0000313\|EMBL:AIA09020.1}	Show » « Hide Enzymes ENZYME proteins Hydrolases SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0003677 [DNA binding] GO:0003678 [DNA helicase activity] GO:0004386 [helicase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005720 [nuclear heterochromatin] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0006200 [ATP catabolic process] GO:0006281 [DNA repair] GO:0006306 [DNA methylation] GO:0006310 [DNA recombination] GO:0006334 [nucleosome assembly] GO:0006336 [DNA replication-independent nucleosome assembly] GO:0006338 [chromatin remodeling] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0010571 [positive regulation of nuclear cell cycle DNA replication] GO:0015616 [DNA translocase activity] GO:0030330 [DNA damage response, signal transduction by p53 class mediator] GO:0031297 [replication fork processing] GO:0031933 [telomeric heterochromatin] GO:0032206 [positive regulation of telomere maintenance] GO:0032508 [DNA duplex unwinding] GO:0035064 [methylated histone binding] GO:0042393 [histone binding] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0070087 [chromo shadow domain binding] GO:0070603 [SWI/SNF superfamily-type complex] GO:0072711 [cellular response to hydroxyurea] GO:1901581 [negative regulation of telomeric RNA transcription from RNA pol II promoter]	2454	278.2	No	0
ATRX-004	ENSP00000485253 ENST00000624032	A0A067XLH7 Show all » « Hide A0A067XLH7 [Target identity:3%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked {ECO:0000313\|EMBL:AGL61631.1} A0A068A261 [Target identity:2%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked protein {ECO:0000313\|EMBL:AIA09020.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		954	107	No	0
ATRX-005	ENSP00000485408 ENST00000493470		Show » « Hide Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		293	33.1	No	0
ATRX-007	ENSP00000383663 ENST00000400866	Q5JX93 Show all » « Hide Q5JX93 [Target identity:80%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) {ECO:0000313\|EMBL:CAI43117.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0003677 [DNA binding] GO:0005524 [ATP binding]	198	22.9	No	0
ATRX-009	ENSP00000485127 ENST00000623321	A0A067XLH7 Show all » « Hide A0A067XLH7 [Target identity:6%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked {ECO:0000313\|EMBL:AGL61631.1} A0A068A261 [Target identity:4%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked protein {ECO:0000313\|EMBL:AIA09020.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		528	59.4	No	0
ATRX-010	ENSP00000485103 ENST00000624166	A0A067XLH7 Show all » « Hide A0A067XLH7 [Target identity:2%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked {ECO:0000313\|EMBL:AGL61631.1} A0A068A261 [Target identity:1%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked protein {ECO:0000313\|EMBL:AIA09020.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		1351	151.7	No	0
ATRX-012	ENSP00000485587 ENST00000622960		Show » « Hide Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		47	5	No	0
ATRX-013	ENSP00000485100 ENST00000624668	A0A067XLH7 Show all » « Hide A0A067XLH7 [Target identity:33%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked {ECO:0000313\|EMBL:AGL61631.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		108	12	No	0
ATRX-015	ENSP00000485099 ENST00000625063	A0A067XLH7 Show all » « Hide A0A067XLH7 [Target identity:18%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked {ECO:0000313\|EMBL:AGL61631.1} A0A068A261 [Target identity:11%; Query identity:100%] Alpha thalassemia/mental retardation syndrome X-linked protein {ECO:0000313\|EMBL:AIA09020.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		198	22.2	No	0

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.