Homo sapiens Gene: SETX
Summary
InnateDB Gene IDBG-90245.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SETX
Gene Name senataxin
Synonyms ALS4; AOA2; bA479K20.2; SCAR1;
Species Homo sapiens
Ensembl Gene ENSG00000107290
Encoded Proteins
senataxin
senataxin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:132261356-132354985
Strand Reverse strand
Band q34.13
Transcripts
ENST00000224140 ENSP00000224140
ENST00000436441 ENSP00000409143
ENST00000477049
ENST00000464133
ENST00000474172
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
Biological Process
GO:0006302 double-strand break repair
GO:0006369 termination of RNA polymerase II transcription
GO:0006396 RNA processing
GO:0007623 circadian rhythm
GO:0008219 cell death
GO:0032508 DNA duplex unwinding
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL B4DYE6 X6RI79
UniProt Splice Variant
Entrez Gene 23064
UniGene Hs.460317
RefSeq NM_015046
HUGO HGNC:445
OMIM 608465
CCDS CCDS6947
HPRD 07622
IMGT
EMBL AK302394 AL159997 AL353701
GenPept BAG63708
RNA Seq Atlas 23064