Gene
atrx
- ID
- ZDB-GENE-030912-11
- Name
- ATRX chromatin remodeler
- Symbol
- atrx Nomenclature History
- Previous Names
-
- wu:fb26e12
- wu:fb52h08
- wu:fb72g09
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable chromatin DNA binding activity. Predicted to be involved in positive regulation of telomeric RNA transcription from RNA pol II promoter and replication fork processing. Predicted to act upstream of or within DNA repair. Predicted to be located in chromosome, telomeric region and nucleus. Used to study alpha thalassemia-X-linked intellectual disability syndrome. Human ortholog(s) of this gene implicated in X-linked mental retardation-hypotonic facies syndrome-1; alpha thalassemia-X-linked intellectual disability syndrome; alpha-thalassemia myelodysplasia syndrome; high grade glioma; and lung small cell carcinoma. Orthologous to human ATRX (ATRX chromatin remodeler).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66223 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Oppel et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
alpha thalassemia-X-linked intellectual disability syndrome | Alliance | Alpha-thalassemia/impaired intellectual development syndrome | 301040 |
alpha-thalassemia myelodysplasia syndrome | Alliance | Alpha-thalassemia myelodysplasia syndrome, somatic | 300448 |
Intellectual disability-hypotonic facies syndrome, X-linked | 309580 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
alpha thalassemia-X-linked intellectual disability syndrome | atrxzdf36/zdf36 (AB) | standard conditions | Oppel et al., 2019 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000330 | SNF2, N-terminal |
Domain | IPR001650 | Helicase, C-terminal domain-like |
Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
Domain | IPR025766 | ADD domain |
Domain | IPR041430 | ATRX, ADD domain |
Domain | IPR049730 | SNF2/RAD5-like, C-terminal helicase domain |
Family | IPR052131 | ATRX domain-containing protein |
Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR038718 | SNF2-like, N-terminal domain superfamily |
Domain Details Per Protein
Protein | Length | ADD domain | ATRX, ADD domain | ATRX domain-containing protein | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD5-like, C-terminal helicase domain | Zinc finger, FYVE/PHD-type | Zinc finger, RING/FYVE/PHD-type |
---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9QKH6
|
2053 | |||||||||||
UniProtKB:E7F4M2
|
2013 |
Interactions and Pathways
No data available
Plasmids
No data available