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O14657

- TOR1B_HUMAN

UniProt

O14657 - TOR1B_HUMAN

Protein

Torsin-1B

Gene

TOR1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (27 Apr 2001)
      Previous versions | rss
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    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
    3. protein binding Source: UniProtKB

    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

    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. nuclear envelope Source: UniProtKB
    5. nuclear membrane Source: UniProtKB-SubCell

    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.
    Mutagenesisi334 – 3363Missing: Decreases interaction with TOR1AIP2.
    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. 3 interactions.
    DIPiDIP-56930N.
    IntActiO14657. 1 interaction.
    STRINGi9606.ENSP00000259339.

    Structurei

    3D structure databases

    ProteinModelPortaliO14657.
    SMRiO14657. Positions 101-127.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG283963.
    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

    MLRAGWLRGA AALALLLAAR VVAAFEPITV GLAIGAASAI TGYLSYNDIY    50
    CRFAECCREE RPLNASALKL DLEEKLFGQH LATEVIFKAL TGFRNNKNPK 100
    KPLTLSLHGW AGTGKNFVSQ IVAENLHPKG LKSNFVHLFV STLHFPHEQK 150
    IKLYQDQLQK WIRGNVSACA NSVFIFDEMD KLHPGIIDAI KPFLDYYEQV 200
    DGVSYRKAIF IFLSNAGGDL ITKTALDFWR AGRKREDIQL KDLEPVLSVG 250
    VFNNKHSGLW HSGLIDKNLI DYFIPFLPLE YRHVKMCVRA EMRARGSAID 300
    EDIVTRVAEE MTFFPRDEKI YSDKGCKTVQ SRLDFH 336
    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 101-127.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118160. 3 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.
    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

    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 1, 2014
    This is version 129 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