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

Gene ID: 64222, updated on 17-Sep-2024

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; AllianceGenome:HGNC:11997
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
Summary
Predicted to enable ATP binding activity. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 22.6), appendix (RPKM 17.5) and 25 other tissues See more
Orthologs
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Genomic context

See TOR3A in Genome Data Viewer
Location:
1q25.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179082070..179095996)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178437075..178450997)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179051205..179065131)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:178908305-178908804 Neighboring gene MPRA-validated peak477 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:178915423-178916208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1582 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1584 Neighboring gene Sharpr-MPRA regulatory region 12139 Neighboring gene FAM20B glycosaminoglycan xylosylkinase Neighboring gene Sharpr-MPRA regulatory region 11809 Neighboring gene ribosomal protein S26 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179055021-179055521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179056771-179057672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179057673-179058574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179060592-179061092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179061093-179061593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179082493-179082994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179082995-179083494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2149 Neighboring gene ABL proto-oncogene 2, non-receptor tyrosine kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179107953-179108459 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:179111778-179112977 Neighboring gene uncharacterized LOC124900432 Neighboring gene SET pseudogene 10

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What'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 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)

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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.

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
    B4DSY0, B7ZB65, Q5M7Y7, Q8WVA7, Q8WWM2, Q9H495, Q9H497, Q9H6E7
    UniProtKB/TrEMBL
    A0A024R943
    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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    178437075..178450997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)