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SETX senataxin [ Homo sapiens (human) ]

Gene ID: 23064, updated on 7-Aug-2014
Official Symbol
SETXprovided by HGNC
Official Full Name
senataxinprovided by HGNC
Primary source
HGNC:445
Locus tag
RP11-203M2.2
See related
Ensembl:ENSG00000107290; HPRD:07622; MIM:608465; Vega:OTTHUMG00000020834
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALS4; AOA2; SCAR1; bA479K20.2
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]
See SETX in Epigenomics, MapViewer
Location:
9q34.13
Exon count:
30
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (132261440..132356726, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135136827..135232113, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 27 Neighboring gene netrin G2 Neighboring gene chromosome 9 open reading frame 171 Neighboring gene transcription termination factor, RNA polymerase I Neighboring gene RNA, U5D small nuclear 2, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12840, FLJ43459, KIAA0625, DKFZp781B151

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IC
Inferred by Curator
more info
PubMed 
DNA helicase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding TAS
Traceable Author Statement
more info
PubMed 
RNA processing TAS
Traceable Author Statement
more info
PubMed 
cell death IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
termination of RNA polymerase II transcription IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
probable helicase senataxin
Names
probable helicase senataxin
SEN1 homolog
amyotrophic lateral sclerosis 4 protein
NP_055861.3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007946.1 

    Range
    5001..98546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_268

mRNA and Protein(s)

  1. NM_015046.5NP_055861.3  probable helicase senataxin

    See proteins identical to NP_055861.3

    Status: REVIEWED

    Source sequence(s)
    AB014525, AL159997, AL353701, AY362728, BM718142, BX537849, BX538166
    Consensus CDS
    CCDS6947.1
    UniProtKB/Swiss-Prot
    Q7Z333
    Related
    ENSP00000224140, OTTHUMP00000022428, ENST00000224140, OTTHUMT00000054774
    Conserved Domains (4) summary
    pfam12726
    Location:34326
    Blast Score: 125
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19342217
    Blast Score: 425
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    Blast Score: 578
    AAA_12; AAA domain
    pfam13245
    Location:19572020
    Blast Score: 108
    AAA_19; Part of AAA domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    132261440..132356726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272172.1XP_005272229.1  

    See proteins identical to XP_005272229.1

    UniProtKB/Swiss-Prot
    Q7Z333
    Conserved Domains (4) summary
    pfam12726
    Location:34326
    Blast Score: 124
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19342217
    Blast Score: 426
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    Blast Score: 578
    AAA_12; AAA domain
    pfam13245
    Location:19572020
    Blast Score: 108
    AAA_19; Part of AAA domain
  2. XM_005272171.1XP_005272228.1  

    See proteins identical to XP_005272228.1

    UniProtKB/Swiss-Prot
    Q7Z333
    Related
    ENSP00000361242, ENST00000372169
    Conserved Domains (4) summary
    pfam12726
    Location:34326
    Blast Score: 124
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19342217
    Blast Score: 426
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    Blast Score: 578
    AAA_12; AAA domain
    pfam13245
    Location:19572020
    Blast Score: 108
    AAA_19; Part of AAA domain
  3. XM_005272173.1XP_005272230.1  

    See proteins identical to XP_005272230.1

    UniProtKB/Swiss-Prot
    Q7Z333
    Conserved Domains (4) summary
    pfam12726
    Location:34326
    Blast Score: 124
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19342217
    Blast Score: 426
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    Blast Score: 578
    AAA_12; AAA domain
    pfam13245
    Location:19572020
    Blast Score: 108
    AAA_19; Part of AAA domain

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    104630757..104723804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    135286879..135380398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)