TOR1B
Torsin-1B
Also known as: DQ1, MGC4386, TOR1B_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14657
- Gene
- TOR1B
- Ensembl
- ENSG00000136816
- Chromosome
- 9
- Canonical length
- 336 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nuclear speckles,Cytosol
- Quaternary structure
- Homohexamer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
336 residues, UniProt reviewed canonical sequence.
>O14657|TOR1B
1 MLRAGWLRGA AALALLLAAR VVAAFEPITV GLAIGAASAI TGYLSYNDIY CRFAECCREE
61 RPLNASALKL DLEEKLFGQH LATEVIFKAL TGFRNNKNPK KPLTLSLHGW AGTGKNFVSQ
121 IVAENLHPKG LKSNFVHLFV STLHFPHEQK IKLYQDQLQK WIRGNVSACA NSVFIFDEMD
181 KLHPGIIDAI KPFLDYYEQV DGVSYRKAIF IFLSNAGGDL ITKTALDFWR AGRKREDIQL
241 KDLEPVLSVG VFNNKHSGLW HSGLIDKNLI DYFIPFLPLE YRHVKMCVRA EMRARGSAID
301 EDIVTRVAEE MTFFPRDEKI YSDKGCKTVQ SRLDFHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TOR1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- rectum: 21 nTPM
- colon: 19 nTPM
- liver: 17 nTPM
- urinary bladder: 15 nTPM
- bone marrow: 14 nTPM
- placenta: 13 nTPM
Single-cell type
- neutrophils: 78 nCPM
- neutrophil progenitors: 53 nCPM
- late primary spermatocytes: 49 nCPM
- colonocytes: 44 nCPM
- goblet cells: 44 nCPM
- retinal horizontal cells: 36 nCPM
Immune cell
- eosinophil: 20 nTPM
- neutrophil: 17 nTPM
- intermediate monocyte: 16 nTPM
- classical monocyte: 13 nTPM
- MAIT T-cell: 13 nTPM
- gdT-cell: 13 nTPM
Brain region
- cerebellum: 18 nTPM
- choroid plexus: 13 nTPM
- hypothalamus: 13 nTPM
- thalamus: 12 nTPM
- medulla oblongata: 12 nTPM
- pons: 12 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.76
- gnomAD pLI
- 0.06
- gnomAD missense Z
- 0.96
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endoplasmic reticulum organization
- nuclear membrane organization
- protein localization to nucleus
- response to unfolded protein
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TOR1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TOR1B as an antibody target. Whether an autoantibody or antibody against TOR1B could matter depends on whether native TOR1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TOR1B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TOR1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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