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O14657 (TOR1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Torsin-1B
Alternative name(s):
Torsin family 1 member B
Gene names
Name:TOR1B
Synonyms:DQ1
ORF Names:FKSG18
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length336 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins By similarity.

Subcellular location

Endoplasmic reticulum lumen By similarity.

Tissue specificity

Widely expressed with low levels in brain. Not detected in fetal brain.

Sequence similarities

Belongs to the ClpA/ClpB family. Torsin subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 336312Torsin-1B
PRO_0000005509

Regions

Nucleotide binding109 – 1168ATP Potential

Amino acid modifications

Glycosylation641N-linked (GlcNAc...) Potential
Glycosylation1651N-linked (GlcNAc...) Potential

Natural variations

Natural variant541A → T.
Corresponds to variant rs10988518 [ dbSNP | Ensembl ].
VAR_059220

Sequences

Sequence LengthMass (Da)Tools
O14657 [UniParc].

Last modified April 27, 2001. Version 2.
Checksum: E729360E6468A3FC

FASTA33637,979
        10         20         30         40         50         60 
MLRAGWLRGA AALALLLAAR VVAAFEPITV GLAIGAASAI TGYLSYNDIY CRFAECCREE 

        70         80         90        100        110        120 
RPLNASALKL DLEEKLFGQH LATEVIFKAL TGFRNNKNPK KPLTLSLHGW AGTGKNFVSQ 

       130        140        150        160        170        180 
IVAENLHPKG LKSNFVHLFV STLHFPHEQK IKLYQDQLQK WIRGNVSACA NSVFIFDEMD 

       190        200        210        220        230        240 
KLHPGIIDAI KPFLDYYEQV DGVSYRKAIF IFLSNAGGDL ITKTALDFWR AGRKREDIQL 

       250        260        270        280        290        300 
KDLEPVLSVG VFNNKHSGLW HSGLIDKNLI DYFIPFLPLE YRHVKMCVRA EMRARGSAID 

       310        320        330 
EDIVTRVAEE MTFFPRDEKI YSDKGCKTVQ SRLDFH 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein."
Ozelius L.J., Hewett J.W., Page C.E., Bressman S.B., Kramer P.L., Shalish C., de Leon D., Brin M.F., Raymond D., Corey D.P., Fahn S., Risch N.J., Buckler A.J., Gusella J.F., Breakefield X.O.
Nat. Genet. 17:40-48(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 71-336.
Tissue: Brain cortex, Fetal brain and Liver.
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF317129 mRNA. Translation: AAG50271.1.
AL158207 Genomic DNA. Translation: CAC88165.1.
BC015578 mRNA. Translation: AAH15578.1.
AF007872 mRNA. Translation: AAC51733.1.
RefSeqNP_055321.1. NM_014506.1.
UniGeneHs.252682.

3D structure databases

ProteinModelPortalO14657.
SMRO14657. Positions 100-224.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118160. 3 interactions.
DIPDIP-56930N.
IntActO14657. 1 interaction.
STRING9606.ENSP00000259339.

PTM databases

PhosphoSiteO14657.

Proteomic databases

PaxDbO14657.
PRIDEO14657.

Protocols and materials databases

DNASU27348.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000259339; ENSP00000259339; ENSG00000136816.
GeneID27348.
KEGGhsa:27348.
UCSCuc004byk.1. human.

Organism-specific databases

CTD27348.
GeneCardsGC09P132565.
HGNCHGNC:11995. TOR1B.
HPACAB022709.
HPA013403.
HPA013697.
MIM608050. gene.
neXtProtNX_O14657.
PharmGKBPA36676.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG283963.
HOGENOMHOG000115770.
HOVERGENHBG054188.
InParanoidO14657.
OMAYEQIDGV.
OrthoDBEOG7TF791.
PhylomeDBO14657.
TreeFamTF314941.

Gene expression databases

BgeeO14657.
CleanExHS_TOR1B.
GenevestigatorO14657.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR017378. Torsin_subgr.
[Graphical view]
PANTHERPTHR10760. PTHR10760. 1 hit.
PfamPF06309. Torsin. 1 hit.
[Graphical view]
PIRSFPIRSF038079. Torsin_2A. 1 hit.
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi27348.
NextBio50442.
PROO14657.
SOURCESearch...

Entry information

Entry nameTOR1B_HUMAN
AccessionPrimary (citable) accession number: O14657
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: April 16, 2014
This is version 125 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM