UniProtKB - O14657 (TOR1B_HUMAN)
Protein
Torsin-1B
Gene
TOR1B
Organism
Homo sapiens (Human)
Status
Functioni
May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A in non-neural tissues.2 Publications
Catalytic activityi
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 109 – 116 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATPase activity Source: UniProtKB
- ATP binding Source: UniProtKB-KW
- identical protein binding Source: MGI
- kinesin binding Source: GO_Central
GO - Biological processi
- chaperone cofactor-dependent protein refolding Source: InterPro
- endoplasmic reticulum organization Source: UniProtKB
- nuclear membrane organization Source: GO_Central
- protein localization to nucleus Source: GO_Central
- response to unfolded protein Source: ProtInc
Keywordsi
Molecular function | Chaperone, Hydrolase |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O14657 |
Reactomei | R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:TOR1B Synonyms:DQ1 ORF Names:FKSG18 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000136816.15 |
HGNCi | HGNC:11995, TOR1B |
MIMi | 608050, gene |
neXtProti | NX_O14657 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum lumen 1 Publication
Nucleus
- Nucleus membrane 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum lumen Source: MGI
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nuclear envelope Source: UniProtKB
- nuclear membrane Source: UniProtKB-SubCell
Keywords - Cellular componenti
Endoplasmic reticulum, Membrane, NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 178 | E → Q: Loss of ATPase activity. Produces sinusoidal endoplasmic reticulum structures where it accumulates. Highly enhances interaction with TOR1AIP2. Localizes in the nuclear envelope. 2 Publications | 1 | |
Mutagenesisi | 334 – 336 | DFH → GGG: Highly reduces ATPase activity induced by TOR1AIP2. 1 Publication | 3 | |
Mutagenesisi | 334 – 336 | Missing : Decreases interaction with TOR1AIP2. 1 Publication | 3 | |
Mutagenesisi | 335 | F → A: No effect on interaction with TOR1AIP2. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 27348 |
OpenTargetsi | ENSG00000136816 |
PharmGKBi | PA36676 |
Miscellaneous databases
Pharosi | O14657, Tbio |
Polymorphism and mutation databases
BioMutai | TOR1B |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 24 | Sequence analysisAdd BLAST | 24 | |
ChainiPRO_0000005509 | 25 – 336 | Torsin-1BAdd BLAST | 312 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 64 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 165 | N-linked (GlcNAc...) asparagineBy similarity | 1 |
Post-translational modificationi
N-glycosylated.1 Publication
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | O14657 |
jPOSTi | O14657 |
MassIVEi | O14657 |
MaxQBi | O14657 |
PaxDbi | O14657 |
PeptideAtlasi | O14657 |
PRIDEi | O14657 |
ProteomicsDBi | 48154 |
PTM databases
GlyConnecti | 1824, 4 N-Linked glycans (1 site) |
GlyGeni | O14657, 2 sites |
iPTMneti | O14657 |
PhosphoSitePlusi | O14657 |
Expressioni
Tissue specificityi
Widely expressed with low levels in brain.1 Publication
Gene expression databases
Bgeei | ENSG00000136816, Expressed in liver and 231 other tissues |
ExpressionAtlasi | O14657, baseline and differential |
Genevisiblei | O14657, HS |
Organism-specific databases
HPAi | ENSG00000136816, Low tissue specificity |
Interactioni
Subunit structurei
Homohexamer.
Interacts with TOR1A; the interaction may be specific of neural tissues.
Interacts with TOR1AIP1; TOR1AIP1 is required for TOR1B location on the nuclear membrane.
Interacts (ATP-bound) with TOR1AIP2; important for endoplasmic reticulum integrity.
3 PublicationsGO - Molecular functioni
- identical protein binding Source: MGI
- kinesin binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 118160, 16 interactors |
CORUMi | O14657 |
DIPi | DIP-56930N |
IntActi | O14657, 16 interactors |
STRINGi | 9606.ENSP00000259339 |
Miscellaneous databases
RNActi | O14657, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG2170, Eukaryota |
GeneTreei | ENSGT00950000182888 |
HOGENOMi | CLU_053537_0_0_1 |
InParanoidi | O14657 |
OMAi | CCREEQP |
OrthoDBi | 1453168at2759 |
PhylomeDBi | O14657 |
TreeFami | TF314941 |
Family and domain databases
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR010448, Torsin IPR030550, Torsin-1B IPR017378, Torsin_1/2 |
PANTHERi | PTHR10760, PTHR10760, 1 hit PTHR10760:SF14, PTHR10760:SF14, 1 hit |
Pfami | View protein in Pfam PF06309, Torsin, 1 hit |
PIRSFi | PIRSF038079, Torsin_2A, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
O14657-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLRAGWLRGA AALALLLAAR VVAAFEPITV GLAIGAASAI TGYLSYNDIY
60 70 80 90 100
CRFAECCREE RPLNASALKL DLEEKLFGQH LATEVIFKAL TGFRNNKNPK
110 120 130 140 150
KPLTLSLHGW AGTGKNFVSQ IVAENLHPKG LKSNFVHLFV STLHFPHEQK
160 170 180 190 200
IKLYQDQLQK WIRGNVSACA NSVFIFDEMD KLHPGIIDAI KPFLDYYEQV
210 220 230 240 250
DGVSYRKAIF IFLSNAGGDL ITKTALDFWR AGRKREDIQL KDLEPVLSVG
260 270 280 290 300
VFNNKHSGLW HSGLIDKNLI DYFIPFLPLE YRHVKMCVRA EMRARGSAID
310 320 330
EDIVTRVAEE MTFFPRDEKI YSDKGCKTVQ SRLDFH
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0Y7C8 | H0Y7C8_HUMAN | Torsin-1B | TOR1B | 141 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059220 | 54 | A → T. Corresponds to variant dbSNP:rs10988518Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF317129 mRNA Translation: AAG50271.1 AL158207 Genomic DNA No translation available. BC015578 mRNA Translation: AAH15578.1 AF007872 mRNA Translation: AAC51733.1 |
CCDSi | CCDS6929.1 |
RefSeqi | NP_001304822.1, NM_001317893.1 NP_001304823.1, NM_001317894.1 NP_055321.1, NM_014506.2 |
Genome annotation databases
Ensembli | ENST00000259339; ENSP00000259339; ENSG00000136816 |
GeneIDi | 27348 |
KEGGi | hsa:27348 |
UCSCi | uc004byk.1, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF317129 mRNA Translation: AAG50271.1 AL158207 Genomic DNA No translation available. BC015578 mRNA Translation: AAH15578.1 AF007872 mRNA Translation: AAC51733.1 |
CCDSi | CCDS6929.1 |
RefSeqi | NP_001304822.1, NM_001317893.1 NP_001304823.1, NM_001317894.1 NP_055321.1, NM_014506.2 |
3D structure databases
SMRi | O14657 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 118160, 16 interactors |
CORUMi | O14657 |
DIPi | DIP-56930N |
IntActi | O14657, 16 interactors |
STRINGi | 9606.ENSP00000259339 |
PTM databases
GlyConnecti | 1824, 4 N-Linked glycans (1 site) |
GlyGeni | O14657, 2 sites |
iPTMneti | O14657 |
PhosphoSitePlusi | O14657 |
Polymorphism and mutation databases
BioMutai | TOR1B |
Proteomic databases
EPDi | O14657 |
jPOSTi | O14657 |
MassIVEi | O14657 |
MaxQBi | O14657 |
PaxDbi | O14657 |
PeptideAtlasi | O14657 |
PRIDEi | O14657 |
ProteomicsDBi | 48154 |
Protocols and materials databases
Antibodypediai | 17905, 185 antibodies |
DNASUi | 27348 |
Genome annotation databases
Ensembli | ENST00000259339; ENSP00000259339; ENSG00000136816 |
GeneIDi | 27348 |
KEGGi | hsa:27348 |
UCSCi | uc004byk.1, human |
Organism-specific databases
CTDi | 27348 |
DisGeNETi | 27348 |
EuPathDBi | HostDB:ENSG00000136816.15 |
GeneCardsi | TOR1B |
HGNCi | HGNC:11995, TOR1B |
HPAi | ENSG00000136816, Low tissue specificity |
MIMi | 608050, gene |
neXtProti | NX_O14657 |
OpenTargetsi | ENSG00000136816 |
PharmGKBi | PA36676 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2170, Eukaryota |
GeneTreei | ENSGT00950000182888 |
HOGENOMi | CLU_053537_0_0_1 |
InParanoidi | O14657 |
OMAi | CCREEQP |
OrthoDBi | 1453168at2759 |
PhylomeDBi | O14657 |
TreeFami | TF314941 |
Enzyme and pathway databases
PathwayCommonsi | O14657 |
Reactomei | R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis |
Miscellaneous databases
BioGRID-ORCSi | 27348, 7 hits in 848 CRISPR screens |
ChiTaRSi | TOR1B, human |
GenomeRNAii | 27348 |
Pharosi | O14657, Tbio |
PROi | PR:O14657 |
RNActi | O14657, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136816, Expressed in liver and 231 other tissues |
ExpressionAtlasi | O14657, baseline and differential |
Genevisiblei | O14657, HS |
Family and domain databases
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR010448, Torsin IPR030550, Torsin-1B IPR017378, Torsin_1/2 |
PANTHERi | PTHR10760, PTHR10760, 1 hit PTHR10760:SF14, PTHR10760:SF14, 1 hit |
Pfami | View protein in Pfam PF06309, Torsin, 1 hit |
PIRSFi | PIRSF038079, Torsin_2A, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TOR1B_HUMAN | |
Accessioni | O14657Primary (citable) accession number: O14657 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | April 27, 2001 | |
Last modified: | December 2, 2020 | |
This is version 176 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations