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
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.460317
RefSeq NM_015046
HUGO
OMIM
CCDS CCDS6947
HPRD 07622
IMGT
EMBL
GenPept
RNA Seq Atlas