Version 5.4
Bos taurus Gene: ATRX
Summary
InnateDB Gene IDBG-635337.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATRX
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000038434
Encoded Proteins
IDBP-687252
alpha thalassemia/mental retardation syndrome X-linked
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:79634445-79917815
Strand Forward strand
Band
Transcripts
ENSBTAT00000061308 ENSBTAP00000053333
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 21 interaction(s) predicted by orthology.
Predicted by orthology
Total 21 [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:0006334 nucleosome assembly
GO:0006336 DNA replication-independent nucleosome assembly
GO:0006338 chromatin remodeling
GO:0007283 spermatogenesis
GO:0008152 metabolic process
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:0031933 telomeric heterochromatin
GO:0070603 SWI/SNF superfamily-type complex
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000085224
View Gene Order
ENSMUSG00000031229
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_24
TSLP pathway
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL F1MQ85
UniProt Splice Variant
Entrez Gene 514473
UniGene
RefSeq XM_002699982 XM_002699983 XM_002707277 XM_005200750 XM_005200751 XM_005200752 XM_005200753 XM_005200754 XM_005200755 XM_005227973 XM_005227974 XM_005227975 XM_005227976 XM_005227977 XM_005227978 XM_592333
HUGO HGNC:886
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02072500 DAAA02072501 DAAA02072502 DAAA02072503 DAAA02072504 DAAA02072505 DAAA02072506 DAAA02072507
GenPept
RNA Seq Atlas 514473
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

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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