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TOR3A torsin family 3 member A [ Homo sapiens (human) ]

Gene ID: 64222, updated on 21-Dec-2019

Summary

Official Symbol
TOR3Aprovided by HGNC
Official Full Name
torsin family 3 member Aprovided by HGNC
Primary source
HGNC:HGNC:11997
See related
Ensembl:ENSG00000186283 MIM:607555
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADIR; ADIR2
Expression
Ubiquitous expression in lymph node (RPKM 22.6), appendix (RPKM 17.5) and 25 other tissues See more
Orthologs

Genomic context

See TOR3A in Genome Data Viewer
Location:
1q25.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (179082070..179095996)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179050415..179067158)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr1.10033 Neighboring gene FAM20B glycosaminoglycan xylosylkinase Neighboring gene ribosomal protein S26 pseudogene 16 Neighboring gene ABL proto-oncogene 2, non-receptor tyrosine kinase Neighboring gene SET pseudogene 10 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 11

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 Apr 4 07:08:55 2018

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infectivity is inhibited by TOR3A; TOR3A overexpression decreases inherent infectivity of virus produced PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 (Env) interacts with TOR3A; TOR3A overexpression decreases inherent infectivity of virus produced; TOR3A and Env occupies the same subcellular compartment as Env PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ22345, MGC111104

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
torsin-3A
Names
ATP-dependant interferon response protein 1
ATP-dependant interferon responsive
ATP-dependent interferon-responsive protein
epididymis secretory sperm binding protein

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.

mRNA and Protein(s)

  1. NM_022371.4NP_071766.2  torsin-3A precursor

    See identical proteins and their annotated locations for NP_071766.2

    Status: VALIDATED

    Source sequence(s)
    AJ299403, BC011746, DA942161
    Consensus CDS
    CCDS1329.1
    UniProtKB/Swiss-Prot
    Q9H497
    Related
    ENSP00000356599.3, ENST00000367627.8
    Conserved Domains (2) summary
    pfam06309
    Location:106234
    Torsin; Torsin
    smart00382
    Location:165280
    AAA; ATPases associated with a variety of cellular activities

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    179082070..179095996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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