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O14657

- TOR1B_HUMAN

UniProt

O14657 - TOR1B_HUMAN

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Protein

Torsin-1B

Gene

TOR1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

ATP + H2O = ADP + phosphate.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi109 – 1168ATPSequence Analysis

GO - Molecular functioni

  1. ATPase activity Source: UniProtKB
  2. ATP binding Source: UniProtKB-KW

GO - Biological processi

  1. ATP catabolic process Source: UniProtKB
  2. chaperone mediated protein folding requiring cofactor Source: InterPro
  3. endoplasmic reticulum organization Source: UniProtKB
  4. nuclear membrane organization Source: Ensembl
  5. protein homooligomerization Source: MGI
  6. response to unfolded protein Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chaperone, Hydrolase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Torsin-1B
Alternative name(s):
Torsin ATPase-1B (EC:3.6.4.-)
Torsin family 1 member B
Gene namesi
Name:TOR1B
Synonyms:DQ1
ORF Names:FKSG18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:11995. TOR1B.

Subcellular locationi

Endoplasmic reticulum lumen 1 Publication. Nucleus membrane 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum lumen Source: MGI
  3. extracellular vesicular exosome Source: UniProt
  4. membrane Source: UniProtKB-KW
  5. nuclear envelope Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi178 – 1781E → 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
Mutagenesisi334 – 3363DFH → GGG: Highly reduces ATPase activity induced by TOR1AIP2. 1 Publication
Mutagenesisi334 – 3363Missing: Decreases interaction with TOR1AIP2. 1 Publication
Mutagenesisi335 – 3351F → A: No effect on interaction with TOR1AIP2. 1 Publication

Organism-specific databases

PharmGKBiPA36676.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Sequence AnalysisAdd
BLAST
Chaini25 – 336312Torsin-1BPRO_0000005509Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi64 – 641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi165 – 1651N-linked (GlcNAc...)By similarity

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO14657.
PaxDbiO14657.
PRIDEiO14657.

PTM databases

PhosphoSiteiO14657.

Expressioni

Tissue specificityi

Widely expressed with low levels in brain.1 Publication

Gene expression databases

BgeeiO14657.
CleanExiHS_TOR1B.
GenevestigatoriO14657.

Organism-specific databases

HPAiCAB022709.
HPA013403.
HPA013697.

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 Publications

Protein-protein interaction databases

BioGridi118160. 7 interactions.
DIPiDIP-56930N.
IntActiO14657. 1 interaction.
STRINGi9606.ENSP00000259339.

Structurei

3D structure databases

ProteinModelPortaliO14657.
SMRiO14657. Positions 100-129.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ClpA/ClpB family. Torsin subfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG283963.
GeneTreeiENSGT00390000001920.
HOGENOMiHOG000115770.
HOVERGENiHBG054188.
InParanoidiO14657.
OMAiYEQIDGV.
OrthoDBiEOG7TF791.
PhylomeDBiO14657.
TreeFamiTF314941.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR017378. Torsin_subgr.
[Graphical view]
PANTHERiPTHR10760. PTHR10760. 1 hit.
PfamiPF06309. Torsin. 1 hit.
[Graphical view]
PIRSFiPIRSF038079. Torsin_2A. 1 hit.
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O14657-1 [UniParc]FASTAAdd to Basket

« Hide

        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
Length:336
Mass (Da):37,979
Last modified:April 27, 2001 - v2
Checksum:iE729360E6468A3FC
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541A → T.
Corresponds to variant rs10988518 [ dbSNP | Ensembl ].
VAR_059220

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF317129 mRNA. Translation: AAG50271.1.
AL158207 Genomic DNA. Translation: CAC88165.1.
BC015578 mRNA. Translation: AAH15578.1.
AF007872 mRNA. Translation: AAC51733.1.
CCDSiCCDS6929.1.
RefSeqiNP_055321.1. NM_014506.1.
UniGeneiHs.252682.

Genome annotation databases

EnsembliENST00000259339; ENSP00000259339; ENSG00000136816.
GeneIDi27348.
KEGGihsa:27348.
UCSCiuc004byk.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF317129 mRNA. Translation: AAG50271.1 .
AL158207 Genomic DNA. Translation: CAC88165.1 .
BC015578 mRNA. Translation: AAH15578.1 .
AF007872 mRNA. Translation: AAC51733.1 .
CCDSi CCDS6929.1.
RefSeqi NP_055321.1. NM_014506.1.
UniGenei Hs.252682.

3D structure databases

ProteinModelPortali O14657.
SMRi O14657. Positions 100-129.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118160. 7 interactions.
DIPi DIP-56930N.
IntActi O14657. 1 interaction.
STRINGi 9606.ENSP00000259339.

PTM databases

PhosphoSitei O14657.

Proteomic databases

MaxQBi O14657.
PaxDbi O14657.
PRIDEi O14657.

Protocols and materials databases

DNASUi 27348.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000259339 ; ENSP00000259339 ; ENSG00000136816 .
GeneIDi 27348.
KEGGi hsa:27348.
UCSCi uc004byk.1. human.

Organism-specific databases

CTDi 27348.
GeneCardsi GC09P132565.
HGNCi HGNC:11995. TOR1B.
HPAi CAB022709.
HPA013403.
HPA013697.
MIMi 608050. gene.
neXtProti NX_O14657.
PharmGKBi PA36676.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG283963.
GeneTreei ENSGT00390000001920.
HOGENOMi HOG000115770.
HOVERGENi HBG054188.
InParanoidi O14657.
OMAi YEQIDGV.
OrthoDBi EOG7TF791.
PhylomeDBi O14657.
TreeFami TF314941.

Miscellaneous databases

GenomeRNAii 27348.
NextBioi 50442.
PROi O14657.
SOURCEi Search...

Gene expression databases

Bgeei O14657.
CleanExi HS_TOR1B.
Genevestigatori O14657.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR017378. Torsin_subgr.
[Graphical view ]
PANTHERi PTHR10760. PTHR10760. 1 hit.
Pfami PF06309. Torsin. 1 hit.
[Graphical view ]
PIRSFi PIRSF038079. Torsin_2A. 1 hit.
SMARTi SM00382. AAA. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of FKSG18, a novel gene located on human chromosome 9."
    Wang Y.-G., Gong L.
    Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney.
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 71-336.
    Tissue: Brain cortex, Fetal brain and Liver.
  5. Cited for: INTERACTION WITH TOR1A, TISSUE SPECIFICITY, GLYCOSYLATION, SUBCELLULAR LOCATION.
  6. "Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA."
    Jungwirth M., Dear M.L., Brown P., Holbrook K., Goodchild R.
    Hum. Mol. Genet. 19:888-900(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, INTERACTION WITH TOR1A, MUTAGENESIS OF GLU-178.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: FUNCTION AS ATPASE, CATALYTIC ACTIVITY.
  9. "Arresting a Torsin ATPase reshapes the endoplasmic reticulum."
    Rose A.E., Zhao C., Turner E.M., Steyer A.M., Schlieker C.
    J. Biol. Chem. 289:552-564(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN ENDOPLASMIC RETICULUM INTEGRITY, CATALYTIC ACTIVITY, INTERACTION WITH TOR1AIP2, MUTAGENESIS OF GLU-178; 334-ASP--HIS-336 AND PHE-335.

Entry informationi

Entry nameiTOR1B_HUMAN
AccessioniPrimary (citable) accession number: O14657
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: October 29, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3