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SETX senataxin [ Homo sapiens (human) ]

Gene ID: 23064, updated on 7-Dec-2018

Summary

Official Symbol
SETXprovided by HGNC
Official Full Name
senataxinprovided by HGNC
Primary source
HGNC:HGNC:445
See related
Ensembl:ENSG00000107290 MIM:608465
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; Sen1; 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]
Expression
Ubiquitous expression in thyroid (RPKM 20.6), testis (RPKM 18.7) and 24 other tissues See more
Orthologs

Genomic context

See SETX in Genome Data Viewer
Location:
9q34.13
Exon count:
33
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (132261356..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 uncharacterized LOC105376302 Neighboring gene netrin G2 Neighboring gene uncharacterized LOC105376304 Neighboring gene transcription termination factor 1 Neighboring gene cilia and flagella associated protein 77

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription termination site sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription termination site sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
DNA-templated transcription, termination IMP
Inferred from Mutant Phenotype
more info
PubMed 
MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
RNA processing TAS
Traceable Author Statement
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to fibroblast growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to retinoic acid IDA
Inferred from Direct Assay
more info
PubMed 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
mRNA splice site selection IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA-templated transcription, initiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA-templated transcription, termination IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of RNA splicing IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
termination of RNA polymerase II transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IDA
Inferred from Direct Assay
more info
PubMed 
chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
growth cone IDA
Inferred from Direct Assay
more info
PubMed 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromosome 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 

General protein information

Preferred Names
probable helicase senataxin
Names
SEN1 homolog
amyotrophic lateral sclerosis 4 protein
NP_001338456.1
NP_001338457.1
NP_055861.3
XP_005272229.1
XP_005272230.1
XP_011516706.1
XP_011516707.1
XP_011516708.1
XP_011516709.1
XP_011516710.1
XP_016869985.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001351527.1NP_001338456.1  probable helicase senataxin isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AA609547, AB014525, AI123313, AL353701, AY362728, BX538166, DA794966, DA989674
    Consensus CDS
    CCDS6947.1
    Conserved Domains (3) summary
    pfam12726
    Location:37351
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    AAA_12; AAA domain
  2. NM_001351528.1NP_001338457.1  probable helicase senataxin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) has the same N- and C-terimini, but is longer than isoform 1.
    Source sequence(s)
    AA609547, AB014525, AI123313, AK302394, AY362728, BX538166, DA989674
    Conserved Domains (3) summary
    pfam12726
    Location:37351
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    AAA_12; AAA domain
  3. NM_015046.7NP_055861.3  probable helicase senataxin isoform 1

    See identical proteins and their annotated locations for NP_055861.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the shorter isoform (1). Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AA609547, AB014525, AI123313, AY362728, BX538166, DA989674
    Consensus CDS
    CCDS6947.1
    UniProtKB/Swiss-Prot
    Q7Z333
    Related
    ENSP00000224140.5, ENST00000224140.5
    Conserved Domains (3) summary
    pfam12726
    Location:37351
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    AAA_12; AAA domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    132261356..132356726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014496.1XP_016869985.1  probable helicase senataxin isoform X5

    Related
    ENSP00000409143.1, ENST00000436441.5
  2. XM_005272172.3XP_005272229.1  probable helicase senataxin isoform X1

    See identical proteins and their annotated locations for XP_005272229.1

    UniProtKB/Swiss-Prot
    Q7Z333
    Conserved Domains (3) summary
    pfam12726
    Location:37351
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    AAA_12; AAA domain
  3. XM_011518404.3XP_011516706.1  probable helicase senataxin isoform X1

    See identical proteins and their annotated locations for XP_011516706.1

    UniProtKB/Swiss-Prot
    Q7Z333
    Conserved Domains (3) summary
    pfam12726
    Location:37351
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    AAA_12; AAA domain
  4. XM_011518405.3XP_011516707.1  probable helicase senataxin isoform X1

    See identical proteins and their annotated locations for XP_011516707.1

    UniProtKB/Swiss-Prot
    Q7Z333
    Conserved Domains (3) summary
    pfam12726
    Location:37351
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    AAA_12; AAA domain
  5. XM_005272173.3XP_005272230.1  probable helicase senataxin isoform X1

    See identical proteins and their annotated locations for XP_005272230.1

    UniProtKB/Swiss-Prot
    Q7Z333
    Conserved Domains (3) summary
    pfam12726
    Location:37351
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13087
    Location:22252424
    AAA_12; AAA domain
  6. XM_011518406.2XP_011516708.1  probable helicase senataxin isoform X2

    Conserved Domains (4) summary
    pfam12726
    Location:37356
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13087
    Location:22252400
    AAA_12; AAA domain
    pfam13245
    Location:19572020
    AAA_19; Part of AAA domain
  7. XM_011518407.1XP_011516709.1  probable helicase senataxin isoform X3

    Conserved Domains (4) summary
    pfam12726
    Location:37356
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332218
    AAA_11; AAA domain
    pfam13245
    Location:19572020
    AAA_19; Part of AAA domain
    cl22977
    Location:22252366
    UvrD_C_2; UvrD-like helicase C-terminal domain
  8. XM_011518408.3XP_011516710.1  probable helicase senataxin isoform X4

    Conserved Domains (3) summary
    pfam12726
    Location:37356
    SEN1_N; SEN1 N terminal
    pfam13086
    Location:19332182
    AAA_11; AAA domain
    pfam13245
    Location:19572020
    AAA_19; Part of AAA domain

RNA

  1. XR_001746251.1 RNA Sequence

  2. XR_929739.2 RNA Sequence

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