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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 X-linked syndromes exhibiting cognitive disabilities as well as 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, Jul 2017]
ATRX (ATRX Chromatin Remodeler) is a Protein Coding gene. Diseases associated with ATRX include Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 and Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked. Among its related pathways are Chromatin Regulation / Acetylation and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is EP400.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003678 | DNA helicase activity | IEA | -- |
GO:0003682 | chromatin binding | IDA | 27029610 |
GO:0004386 | helicase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | IEA | -- |
GO:0000780 | condensed nuclear chromosome, centromeric region | IEA | -- |
GO:0000781 | chromosome, telomeric region | IEA,ISS | -- |
GO:0000784 | colocalizes_with nuclear chromosome, telomeric region | ISS | -- |
GO:0000792 | heterochromatin | IEA | -- |
SuperPathway | Contained pathways | ||
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1 | Chromatin Regulation / Acetylation | ||
2 | Pathways Affected in Adenoid Cystic Carcinoma |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000212 | meiotic spindle organization | IEA | -- |
GO:0006281 | DNA repair | IEA | -- |
GO:0006306 | DNA methylation | TAS | 10742099 |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006334 | nucleosome assembly | IDA | 20651253 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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ADP |
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Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
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PS(14:0/14:0) |
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PS(14:0/14:1(9Z)) |
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PS(14:0/16:0) |
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PS(14:0/16:1(9Z)) |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
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SP1: | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | ATRX 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATRX 30 31 |
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OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATRX 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atrx 30 17 31 |
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OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atrx 30 |
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Platypus (Ornithorhynchus anatinus) |
Mammalia | ATRX 31 |
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OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATRX 31 |
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OneToOne | |
Chicken (Gallus gallus) |
Aves | ATRX 30 31 |
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OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATRX 31 |
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OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atrx 30 |
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Str.15784 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.19143 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | atrx 30 31 |
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OneToOne | |
zgc66223 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | XNP 31 32 |
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OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | xnp-1 31 32 |
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OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD54 31 |
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OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
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OneToMany | |
-- 31 |
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OneToMany | |||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12668 30 |
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SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
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639233 | Uncertain Significance: Alpha thalassemia-X-linked intellectual disability syndrome | 77,682,868(-) | T/G | MISSENSE_VARIANT | |
641620 | Benign: Alpha thalassemia-X-linked intellectual disability syndrome | 77,682,762(-) | C/T | MISSENSE_VARIANT | |
643111 | Uncertain Significance: Alpha thalassemia-X-linked intellectual disability syndrome | 77,684,252(-) | C/G | MISSENSE_VARIANT | |
643315 | Uncertain Significance: Alpha thalassemia-X-linked intellectual disability syndrome | 77,693,941(-) | G/C | INTRON_VARIANT | |
643614 | Uncertain Significance: Alpha thalassemia-X-linked intellectual disability syndrome | 77,682,764(-) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
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dgv2316e212 | CNV | loss | 25503493 |
dgv2317e212 | CNV | loss | 25503493 |
dgv2318e212 | CNV | loss | 25503493 |
esv3574091 | CNV | loss | 25503493 |
esv3574092 | CNV | loss | 25503493 |
esv3574095 | CNV | loss | 25503493 |
esv3576944 | CNV | gain | 25503493 |
Disorder | Aliases | PubMed IDs |
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mental retardation-hypotonic facies syndrome, x-linked, 1 |
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alpha-thalassemia/mental retardation syndrome, x-linked |
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alpha-thalassemia myelodysplasia syndrome |
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alpha thalassemia-x-linked intellectual disability syndrome |
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cryptorchidism, unilateral or bilateral |
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