ATRX
Gene Information
- Official Symbol: ATRX
- Official Name: ATRX chromatin remodeler
- Aliases and Previous Symbols: N/A
- Entrez ID: 546
- UniProt: P46100
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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 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].
- UniProt Summary: N/A
Pfam Domains GO Terms
Pfam Domains
| Helicase C |
| SNF2 N |
GO Terms
| positive regulation of telomeric RNA transcription from RNA pol II promoter |
| negative regulation of telomeric RNA transcription from RNA pol II promoter |
| post-embryonic appendage morphogenesis |
| regulation of telomeric RNA transcription from RNA pol II promoter |
| nuclear subtelomeric heterochromatin |
| post-embryonic limb morphogenesis |
| post-embryonic forelimb morphogenesis |
| regulation of maintenance of mitotic sister chromatid cohesion, telomeric |
| telomeric heterochromatin |
| negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric |
| negative regulation of maintenance of mitotic sister chromatid cohesion |
| negative regulation of maintenance of sister chromatid cohesion |
| negative regulation of sister chromatid cohesion |
| DNA translocase activity |
| chromo shadow domain binding |
| positive regulation of nuclear cell cycle DNA replication |
| regulation of maintenance of mitotic sister chromatid cohesion |
| regulation of maintenance of sister chromatid cohesion |
| nuclear pericentric heterochromatin |
| cellular response to hydroxyurea |
| regulation of histone H3-K9 trimethylation |
| seminiferous tubule development |
| response to hydroxyurea |
| positive regulation of DNA-dependent DNA replication |
| post-embryonic animal morphogenesis |
| meiotic spindle organization |
| condensed nuclear chromosome, centromeric region |
| Sertoli cell development |
| pericentric heterochromatin |
| protein localization to chromosome, telomeric region |
| response to antimetabolite |
| regulation of nuclear cell cycle DNA replication |
| Sertoli cell differentiation |
| nuclear heterochromatin |
| regulation of sister chromatid cohesion |
| regulation of histone H3-K9 methylation |
| negative regulation of mitotic sister chromatid segregation |
| replication fork processing |
| negative regulation of sister chromatid segregation |
| negative regulation of chromosome segregation |
| positive regulation of DNA replication |
| DNA replication-independent nucleosome assembly |
| DNA-dependent DNA replication maintenance of fidelity |
| negative regulation of mitotic nuclear division |
| DNA replication-independent nucleosome organization |
| forelimb morphogenesis |
| DNA alkylation |
| DNA methylation |
| negative regulation of nuclear division |
| positive regulation of telomere maintenance |
| regulation of DNA-dependent DNA replication |
| DNA helicase activity |
| methylated histone binding |
| protein localization to chromosome |
| regulation of histone methylation |
| chromosome organization involved in meiotic cell cycle |
| DNA methylation or demethylation |
| regulation of mitotic sister chromatid segregation |
| DNA damage response, signal transduction by p53 class mediator |
| regulation of sister chromatid segregation |
| multicellular organism growth |
| regulation of telomere maintenance |
| post-embryonic development |
| DNA modification |
| response to antineoplastic agent |
| PML body |
| regulation of chromosome segregation |
| signal transduction in response to DNA damage |
| regulation of DNA replication |
| nuclear chromosome, telomeric region |
| DNA duplex unwinding |
| nucleosome assembly |
| DNA geometric change |
| DNA-dependent DNA replication |
| signal transduction by p53 class mediator |
| histone binding |
| chromatin assembly |
| male gonad development |
| negative regulation of chromosome organization |
| development of primary male sexual characteristics |
| regulation of histone modification |
| limb morphogenesis |
| appendage morphogenesis |
| spindle organization |
| chromatin assembly or disassembly |
| nucleosome organization |
| male sex differentiation |
| chromatin remodeling |
| meiotic cell cycle process |
| regulation of mitotic nuclear division |
| positive regulation of chromosome organization |
| DNA packaging |
| limb development |
| appendage development |
| regulation of chromatin organization |
| epithelial cell development |
| regulation of nuclear division |
| positive regulation of DNA metabolic process |
| protein-DNA complex assembly |
| gonad development |
| DNA replication |
| development of primary sexual characteristics |
| cellular response to inorganic substance |
| meiotic cell cycle |
| protein-DNA complex subunit organization |
| macromolecule methylation |
| sex differentiation |
| nuclear body |
| positive regulation of cell cycle process |
| DNA conformation change |
| negative regulation of mitotic cell cycle |
| methylation |
| negative regulation of cell cycle process |
| regulation of chromosome organization |
| regulation of DNA metabolic process |
| negative regulation of organelle organization |
| positive regulation of cell cycle |
| forebrain development |
| developmental growth |
| growth |
| chromatin binding |
| cellular response to drug |
| reproductive structure development |
| reproductive system development |
| microtubule cytoskeleton organization |
| DNA repair |
| response to inorganic substance |
| spermatogenesis |
| male gamete generation |
| negative regulation of cell cycle |
| positive regulation of organelle organization |
| regulation of mitotic cell cycle |
| cellular response to nitrogen compound |
| developmental process involved in reproduction |
| microtubule-based process |
| epithelial cell differentiation |
| gamete generation |
| chromatin organization |
| negative regulation of cellular component organization |
| protein localization to organelle |
| brain development |
| DNA metabolic process |
| regulation of cell cycle process |
| cellular response to DNA damage stimulus |
| head development |
| multicellular organismal reproductive process |
| sexual reproduction |
| cellular protein-containing complex assembly |
| multicellular organism reproduction |
| tube development |
| negative regulation of transcription by RNA polymerase II |
| central nervous system development |
| multi-organism reproductive process |
| cell cycle process |
| response to drug |
| chromosome organization |
| response to nitrogen compound |
| cytoskeleton organization |
| epithelium development |
| regulation of cell cycle |
| negative regulation of transcription, DNA-templated |
| positive regulation of cellular component organization |
| positive regulation of transcription by RNA polymerase II |
| negative regulation of nucleic acid-templated transcription |
| negative regulation of RNA biosynthetic process |
| regulation of organelle organization |
| negative regulation of RNA metabolic process |
| cell cycle |
| negative regulation of cellular macromolecule biosynthetic process |
| reproductive process |
| reproduction |
| negative regulation of nucleobase-containing compound metabolic process |
| DNA binding |
| negative regulation of macromolecule biosynthetic process |
| ATP binding |
| negative regulation of cellular biosynthetic process |
| positive regulation of transcription, DNA-templated |
| negative regulation of biosynthetic process |
| protein-containing complex assembly |
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| cellular protein localization |
| cellular macromolecule localization |
| positive regulation of nucleic acid-templated transcription |
| positive regulation of RNA biosynthetic process |
| cell development |
| intracellular signal transduction |
| cellular response to stress |
| cellular macromolecule biosynthetic process |
| negative regulation of gene expression |
| positive regulation of RNA metabolic process |
| tissue development |
| macromolecule biosynthetic process |
| regulation of protein modification process |
| protein-containing complex subunit organization |
| positive regulation of nucleobase-containing compound metabolic process |
| positive regulation of macromolecule biosynthetic process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 1/683
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/26 |
| bone | 0/25 |
| breast | 0/30 |
| central nervous system | 0/49 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/11 |
| fibroblast | 0/1 |
| gastric | 0/14 |
| kidney | 0/18 |
| liver | 0/19 |
| lung | 0/72 |
| lymphocyte | 0/14 |
| ovary | 0/25 |
| pancreas | 0/22 |
| peripheral nervous system | 0/15 |
| plasma cell | 0/12 |
| prostate | 0/1 |
| skin | 0/20 |
| soft tissue | 0/7 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/28 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 3546
- Expression level (log2 read counts): 8.38
Expression Distribution
ATRX Expression in NALM6 Cells: 8.38
