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TOR1A torsin family 1 member A [ Homo sapiens (human) ]

Gene ID: 1861, updated on 4-Jan-2025

Summary

Official Symbol
TOR1Aprovided by HGNC
Official Full Name
torsin family 1 member Aprovided by HGNC
Primary source
HGNC:HGNC:3098
See related
Ensembl:ENSG00000136827 MIM:605204; AllianceGenome:HGNC:3098
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
DQ2; AMC5; DYT1
Summary
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 14.8), urinary bladder (RPKM 12.7) and 25 other tissues See more
Orthologs
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Genomic context

See TOR1A in Genome Data Viewer
Location:
9q34.11
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129812942..129824136, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142017521..142028703, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132575221..132586415, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene UBE2V1 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20389 Neighboring gene torsin family 1 member B Neighboring gene Sharpr-MPRA regulatory region 13743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29122 Neighboring gene Sharpr-MPRA regulatory region 5710 Neighboring gene chromosome 9 open reading frame 78 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20391 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132597987-132598487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132601680-132602180 Neighboring gene ubiquitin specific peptidase 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29123 Neighboring gene Sharpr-MPRA regulatory region 12255 Neighboring gene microRNA 6855

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with torsin family 1, member A (TOR1A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TOR1A; predicted interaction to be within the endoplasmic reticulum PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables ATP hydrolysis activity PubMed 
enables ATP-dependent H2AZ histone chaperone activity  
enables ATP-dependent H3-H4 histone complex chaperone activity  
enables ATP-dependent protein folding chaperone PubMed 
enables ATP-dependent protein folding chaperone PubMed 
enables DNA clamp loader activity  
enables chromatin extrusion motor activity  
enables cohesin loader activity  
enables cytoskeletal protein binding PubMed 
enables identical protein binding PubMed 
enables identical protein binding PubMed 
enables kinesin binding  
enables kinesin binding PubMed 
enables misfolded protein binding  
enables protein binding PubMed 
enables unfolded protein binding PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway  
involved_in cell adhesion PubMed 
involved_in chaperone cofactor-dependent protein refolding  
involved_in chaperone-mediated protein folding PubMed 
involved_in chromatin looping  
involved_in chromatin remodeling  
involved_in intermediate filament cytoskeleton organization PubMed 
involved_in neuron projection development PubMed 
involved_in nuclear envelope organization  
involved_in nuclear membrane organization  
involved_in nuclear membrane organization  
involved_in positive regulation of synaptic vesicle endocytosis PubMed 
involved_in protein deneddylation PubMed 
involved_in protein localization to nucleus  
involved_in protein localization to nucleus PubMed 
involved_in protein localization to nucleus  
involved_in regulation of dopamine uptake involved in synaptic transmission PubMed 
acts_upstream_of_positive_effect regulation of protein localization to cell surface PubMed 
involved_in response to oxidative stress  
involved_in synaptic vesicle membrane organization PubMed 
involved_in synaptic vesicle transport PubMed 
involved_in wound healing, spreading of cells  
Component Evidence Code Pubs
located_in cytoplasmic vesicle membrane  
located_in cytoskeleton  
located_in cytosol  
located_in endoplasmic reticulum PubMed 
is_active_in endoplasmic reticulum lumen  
located_in endoplasmic reticulum lumen PubMed 
located_in endoplasmic reticulum membrane PubMed 
located_in extracellular exosome PubMed 
located_in growth cone  
located_in intracellular membrane-bounded organelle  
located_in membrane PubMed 
is_active_in nuclear envelope  
located_in nuclear envelope  
located_in nuclear membrane  
located_in secretory granule  
located_in synaptic vesicle PubMed 

General protein information

Preferred Names
torsin-1A
Names
dystonia 1 protein
dystonia 1, torsion (autosomal dominant; torsin A)
torsin A
torsin ATPase 1
torsin ATPase-1A
NP_000104.1

NCBI Reference Sequences (RefSeq)

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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_008049.1 RefSeqGene

    Range
    5027..16221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1029

mRNA and Protein(s)

  1. NM_000113.3NP_000104.1  torsin-1A precursor

    See identical proteins and their annotated locations for NP_000104.1

    Status: REVIEWED

    Source sequence(s)
    AF007871, AK056062, AK075343, AU098588, BC000674, BC014484, BU790507
    Consensus CDS
    CCDS6930.1
    UniProtKB/Swiss-Prot
    B2RB58, O14656, Q53Y64, Q96CA0
    UniProtKB/TrEMBL
    B4DGM9
    Related
    ENSP00000345719.4, ENST00000351698.5
    Conserved Domains (1) summary
    pfam06309
    Location:44169
    Torsin; Torsin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    129812942..129824136 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    142017521..142028703 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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