ATRX

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 (Chromosome progress)

Cytoband

q21.1

Chromosome location (bp)

76760356 - 77041702

Ensembl

ENSG00000085224 (version 73.37)

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-007
 
 
 
 
 

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 »
Show » Show » 2492 282.6 No 0
ATRX-002 ENSP00000378967
ENST00000395603
P46100
Show all »
Show » Show » 2454 278.2 No 0
ATRX-004 ENSP00000362438
ENST00000373341
Q5H9A3
Show all »
126 14 No 0
ATRX-007 ENSP00000383663
ENST00000400866
Q5JX93
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Show » 160 18.5 No 0