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ATRX

CANCER ATLAS

Gene description

 Alpha thalassemia/mental retardation syndrome X-linked

Protein class

 Cancer-related genes, Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins, Transcription factors

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer

STAINING SUMMARY
HPA001906
CAB009372
CAB068176

GENE INFORMATION

Gene name

 ATRX (HGNC Symbol)

Synonyms

 JMS, MRX52, 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 83.38)

Entrez gene

 546

UniProt

 P46100 (UniProt - Evidence at protein level)

neXtProt

 NX_P46100

Antibodypedia

 ATRX antibodies

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

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ATRX-001
ENSP00000362441
ENST00000373344
P46100 [Direct mapping]
Transcriptional regulator ATRX
A4LAA3 [Target identity:100%; Query identity:100%]
Alpha thalassemia/mental retardation syndrome X-linked
Show all
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 (Ezkurdia et al 2014)
Show all
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:0005654 [nucleoplasm]
GO:0005720 [nuclear heterochromatin]
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:0016605 [PML body]
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:0035128 [post-embryonic forelimb morphogenesis]
GO:0035264 [multicellular organism growth]
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]
Show all
 2492 aa
282.6 kDa 		No 0
ATRX-002
ENSP00000378967
ENST00000395603
P46100 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
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:0005654 [nucleoplasm]
GO:0005720 [nuclear heterochromatin]
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:0016605 [PML body]
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]
Show all
 2454 aa
278.2 kDa 		No 0
ATRX-004
ENSP00000485253
ENST00000624032
A0A096LNW1 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
 954 aa
107 kDa 		No 0
ATRX-005
ENSP00000485408
ENST00000493470
A0A096LP59 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
 293 aa
33.1 kDa 		No 0
ATRX-007
ENSP00000383663
ENST00000400866
H0Y3T0 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
Show all
 198 aa
22.9 kDa 		No 0
ATRX-009
ENSP00000485127
ENST00000623321
A0A096LNN3 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
 528 aa
59.4 kDa 		No 0
ATRX-010
ENSP00000485103
ENST00000624166
A0A096LNL9 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
 1351 aa
151.7 kDa 		No 0
ATRX-012
ENSP00000485587
ENST00000622960
A0A096LPG6 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
 47 aa
5 kDa 		No 0
ATRX-013
ENSP00000485100
ENST00000624668
A0A096LNL7 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
 108 aa
12 kDa 		No 0
ATRX-015
ENSP00000485099
ENST00000625063
A0A096LNL6 [Direct mapping]
Transcriptional regulator ATRX
Show all
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 (Ezkurdia et al 2014)
Show all
 198 aa
22.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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