ATRX

GENERAL INFORMATION

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Gene name

ATRX

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

Predicted localization

Intracellular

Number of transcripts

10
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA001906 , CAB009372 , CAB068176
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000373344
 
ENST00000395603
 
ENST00000400866
 
ENST00000493470
 
ENST00000622960
 
ENST00000623321
 
ENST00000624032
 
ENST00000624166
 
ENST00000624668
 
ENST00000625063
 
 
 
 


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 ENSP00000485253
ENST00000624032
A0A067XLH7
Show all »
Show » 954 107 No 0
ATRX-005 ENSP00000485408
ENST00000493470
Show » 293 33.1 No 0
ATRX-007 ENSP00000383663
ENST00000400866
Q5JX93
Show all »
Show » Show » 198 22.9 No 0
ATRX-009 ENSP00000485127
ENST00000623321
A0A067XLH7
Show all »
Show » 528 59.4 No 0
ATRX-010 ENSP00000485103
ENST00000624166
A0A067XLH7
Show all »
Show » 1351 151.7 No 0
ATRX-012 ENSP00000485587
ENST00000622960
Show » 47 5 No 0
ATRX-013 ENSP00000485100
ENST00000624668
A0A067XLH7
Show all »
Show » 108 12 No 0
ATRX-015 ENSP00000485099
ENST00000625063
A0A067XLH7
Show all »
Show » 198 22.2 No 0