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TOR1B torsin family 1 member B [ Homo sapiens (human) ]

Gene ID: 27348, updated on 23-Nov-2021

Summary

Official Symbol
TOR1Bprovided by HGNC
Official Full Name
torsin family 1 member Bprovided by HGNC
Primary source
HGNC:HGNC:11995
See related
Ensembl:ENSG00000136816 MIM:608050
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
DQ1
Summary
The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in colon (RPKM 11.2), gall bladder (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See TOR1B in Genome Data Viewer
Location:
9q34.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (129803143..129811424)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132565463..132573560)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3625 Neighboring gene UBE2V1 pseudogene 4 Neighboring gene torsin family 1 member A Neighboring gene chromosome 9 open reading frame 78

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables kinesin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in chaperone cofactor-dependent protein refolding IEA
Inferred from Electronic Annotation
more info
 
involved_in endoplasmic reticulum organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nuclear membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein localization to nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to unfolded protein TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
torsin-1B
Names
torsin ATPase-1B
torsin B

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_001317893.2NP_001304822.1  torsin-1B isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL158207
    UniProtKB/Swiss-Prot
    O14657
    Conserved Domains (1) summary
    cl21455
    Location:51176
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001317894.2NP_001304823.1  torsin-1B isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons and uses an alternate splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL158207
    UniProtKB/Swiss-Prot
    O14657
    Related
    ENSP00000411912.1, ENST00000427860.1
    Conserved Domains (1) summary
    cl21455
    Location:51158
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_014506.3NP_055321.1  torsin-1B isoform 1 precursor

    See identical proteins and their annotated locations for NP_055321.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL158207
    Consensus CDS
    CCDS6929.1
    UniProtKB/Swiss-Prot
    O14657
    Related
    ENSP00000259339.2, ENST00000259339.7
    Conserved Domains (2) summary
    pfam06309
    Location:51176
    Torsin
    TIGR02639
    Location:68313
    ClpA; ATP-dependent Clp protease ATP-binding subunit clpA

RNA

  1. NR_133948.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL158207
  2. NR_134027.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL158207
  3. NR_134113.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses two alternate splice junctions compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL158207

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    129803143..129811424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251927.3XP_005251984.1  torsin-1B isoform X1

    Conserved Domains (2) summary
    smart00382
    Location:101244
    AAA; ATPases associated with a variety of cellular activities
    cl21455
    Location:51176
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_001746273.1 RNA Sequence

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