Version 5.4
Homo sapiens Gene: ATRX
Summary
InnateDB Gene IDBG-77514.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATRX
Gene Name alpha thalassemia/mental retardation syndrome X-linked
Synonyms ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Species Homo sapiens
Ensembl Gene ENSG00000085224
Encoded Proteins
IDBP-77516
alpha thalassemia/mental retardation syndrome X-linked
IDBP-227213
alpha thalassemia/mental retardation syndrome X-linked
IDBP-239148
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810444
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810461
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810450
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810454
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810457
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810463
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810466
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810467
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810468
alpha thalassemia/mental retardation syndrome X-linked
IDBP-810469
alpha thalassemia/mental retardation syndrome X-linked
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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. The mutations of 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. 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:77504878-77786269
Strand Reverse strand
Band q21.1
Transcripts
ENST00000373344 ENSP00000362441
ENST00000400866 ENSP00000383663
ENST00000395603 ENSP00000378967
ENST00000480283 ENSP00000480196
ENST00000479487
ENST00000460639
ENST00000493470 ENSP00000485408
ENST00000623706
ENST00000624766
ENST00000623316 ENSP00000485274
ENST00000624403
ENST00000623242 ENSP00000485183
ENST00000624166 ENSP00000485103
ENST00000624032 ENSP00000485253
ENST00000623321 ENSP00000485127
ENST00000625063 ENSP00000485099
ENST00000624668 ENSP00000485100
ENST00000622960 ENSP00000485587
ENST00000624193
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 63 [view]
Protein-Protein 63 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
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:0008270 zinc ion binding
GO:0015616 DNA translocase activity
GO:0035064 methylated histone binding
GO:0042393 histone binding
GO:0070087 chromo shadow domain binding
Biological Process
GO:0006200 ATP catabolic process
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: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:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060009 Sertoli cell development
GO:0072520 seminiferous tubule development
GO:0072711 cellular response to hydroxyurea
GO:1901581 negative regulation of telomeric RNA transcription from RNA pol II promoter
Cellular Component
GO:0000228 nuclear chromosome
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005720 nuclear heterochromatin
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0016605 PML body
GO:0031933 telomeric heterochromatin
GO:0070603 SWI/SNF superfamily-type complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031229
View Gene Order
ENSBTAG00000038434
Not yet available
Pathways
NETPATH
NetPath_24
TSLP pathway
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000489 NM_138270 XM_005262153 XM_005262155 XM_005262156 XM_006724666 XM_006724667 XM_006724668
HUGO
OMIM
CCDS CCDS14434 CCDS14435
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca