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

    Gene ID: 64222, updated on 17-Jun-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
    109.20190607 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 uncharacterized LOC102724754 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 Annotation Release 109

    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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