Human Gene ATRX (uc004ecp.4) Description and Page Index
Description: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. RefSeq Summary (NM_000489): 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]. Transcript (Including UTRs) Position: hg19 chrX:76,760,356-77,041,719 Size: 281,364 Total Exon Count: 35 Strand: - Coding Region Position: hg19 chrX:76,763,829-77,041,487 Size: 277,659 Coding Exon Count: 35
ID:ATRX_HUMAN DESCRIPTION: RecName: Full=Transcriptional regulator ATRX; EC=220.127.116.11; AltName: Full=ATP-dependent helicase ATRX; AltName: Full=X-linked helicase II; AltName: Full=X-linked nuclear protein; Short=XNP; AltName: Full=Znf-HX; FUNCTION: Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be involved in brain development and facial morphogenesis. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: Probably binds EZH2. Binds annexin V in a calcium and phosphatidylcholine/phosphatidylserine-dependent manner (By similarity). Interacts directly with CBX5 via the PxVxL motif. INTERACTION: Q9UER7:DAXX; NbExp=3; IntAct=EBI-396461, EBI-77321; SUBCELLULAR LOCATION: Nucleus. Note=Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with HP1. TISSUE SPECIFICITY: Ubiquitous. DOMAIN: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in ATRX are the cause of alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]. ATR-X is an X- linked disorder comprising severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. DISEASE: Defects in ATRX are the cause of mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]; also called Carpenter-Waziri syndrome (CWS), Juberg- Marsidi syndrome (JMS), Smith-Fineman-Myers syndrome type 1 (SFM1). Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. DISEASE: Defects in ATRX are a cause of alpha-thalassemia myelodysplasia syndrome (ATMDS) [MIM:300448]. In this disorder, alpha-thalassemia occurs as an acquired abnormality in association with a multilineage myelodysplasia. SIMILARITY: Belongs to the SNF2/RAD54 helicase family. SIMILARITY: Contains 1 ADD domain. SIMILARITY: Contains 1 GATA-type zinc finger. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain. SIMILARITY: Contains 1 PHD-type zinc finger. SEQUENCE CAUTION: Sequence=AAA20872.1; Type=Miscellaneous discrepancy; Note=Many frameshifts and conflits; Sequence=AAC50069.1; Type=Frameshift; Positions=Several; Sequence=BAD92165.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATRX";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ATRX CDC HuGE Published Literature: ATRX
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P46100
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000212 meiotic spindle organization GO:0006281 DNA repair GO:0006306 DNA methylation GO:0006310 DNA recombination GO:0006325 chromatin organization 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:0006974 cellular response to DNA damage stimulus GO:0007283 spermatogenesis GO:0010571 positive regulation of nuclear cell cycle DNA replication GO:0030330 DNA damage response, signal transduction by p53 class mediator GO:0030900 forebrain development GO:0031297 replication fork processing GO:0032206 positive regulation of telomere maintenance GO:0032508 DNA duplex unwinding GO:0035128 post-embryonic forelimb morphogenesis GO:0035264 multicellular organism growth GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0060009 Sertoli cell development GO:0070192 chromosome organization involved in meiotic cell cycle GO:0070198 protein localization to chromosome, telomeric region GO:0072520 seminiferous tubule development GO:0072711 cellular response to hydroxyurea GO:1900112 regulation of histone H3-K9 trimethylation GO:1901581 negative regulation of telomeric RNA transcription from RNA pol II promoter GO:1901582 positive regulation of telomeric RNA transcription from RNA pol II promoter GO:1904908 negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric