Cell atlas - ATRX - The Human Protein Atlas

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ATRX

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TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Nuclear bodies

Human cell
	Nucleoplasm

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GENERAL INFORMATION
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
Summary	Mainly localized to the nuclear bodies.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nuclear bodies (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA064684
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nuclear bodies.

Main location

Nuclear bodies (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA064684	RH-30	Nucleoplasm
	HPA064684	RH-30	Nuclear bodies
	HPA064684	SH-SY5Y	Nuclear bodies
	HPA064684	U-2 OS	No staining

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

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The Project

The Human Protein Atlas

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