Version 5.4
Mus musculus Gene: Atrx
Summary
InnateDB Gene IDBG-166501.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Atrx
Gene Name alpha thalassemia/mental retardation syndrome X-linked homolog (human)
Synonyms 4833408C14Rik; AI447451; ATR2; DXHXS6677E; HP1-BP38; Hp1bp2; Hp1bp38; MRXS3; Rad54; RAD54L; XH2; Xnp; ZNF-HX
Species Mus musculus
Ensembl Gene ENSMUSG00000031229
Encoded Proteins
IDBP-166507
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
IDBP-253587
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
IDBP-536731
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
IDBP-534263
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
IDBP-536393
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
IDBP-534543
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
IDBP-541206
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
IDBP-538665
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
IDBP-536030
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000085224:
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:105797615-105929397
Strand Reverse strand
Band D
Transcripts
ENSMUST00000101305 ENSMUSP00000098863
ENSMUST00000113573 ENSMUSP00000109203
ENSMUST00000143361
ENSMUST00000138765
ENSMUST00000127221
ENSMUST00000141609
ENSMUST00000155445
ENSMUST00000142235
ENSMUST00000146193
ENSMUST00000123174
ENSMUST00000128968 ENSMUSP00000121416
ENSMUST00000134507 ENSMUSP00000123085
ENSMUST00000150914 ENSMUSP00000122034
ENSMUST00000134381 ENSMUSP00000122875
ENSMUST00000154866 ENSMUSP00000121291
ENSMUST00000133543
ENSMUST00000137453 ENSMUSP00000120246
ENSMUST00000130980 ENSMUSP00000117528
ENSMUST00000126345
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 20 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 16 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 20 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
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:0006334 nucleosome assembly
GO:0006336 DNA replication-independent nucleosome assembly
GO:0006338 chromatin remodeling
GO:0006351 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: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: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
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000085224
View Gene Order
ENSBTAG00000038434
Not yet available
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_24
TSLP pathway
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL A6PWK9 A6PWL2 Q8C2S3
UniProt Splice Variant
Entrez Gene 22589
UniGene Mm.10141 Mm.317558 Mm.400439 Mm.465628 Mm.487149
RefSeq NM_009530 XM_006527948 XM_006527949 XM_006527950 XM_006527951 XM_006527952 XM_006527953 XM_006527954 XM_006527955 XM_006527956 XM_006527957 XM_006527958 XM_006527959 XM_006527960
OMIM
CCDS CCDS41095
HPRD
IMGT
MGI ID MGI:103067
MGI Symbol Atrx
EMBL AK088095 AL670660 AL671893
GenPept BAC40142
RNA Seq Atlas 22589

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