Gene Gene information from NCBI Gene database.
Entrez ID 27348
Gene name Torsin family 1 member B
Gene symbol TOR1B
Synonyms (NCBI Gene)
DQ1
Chromosome 9
Chromosome location 9q34.11
Summary 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. Fina
miRNA miRNA information provided by mirtarbase database.
407
miRTarBase ID miRNA Experiments Reference
MIRT024853 hsa-miR-215-5p Microarray 19074876
MIRT026354 hsa-miR-192-5p Microarray 19074876
MIRT029285 hsa-miR-26b-5p Microarray 19088304
MIRT614573 hsa-miR-8485 HITS-CLIP 23824327
MIRT614572 hsa-miR-6768-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 15147511, 24275647
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608050 11995 ENSG00000136816
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14657
Protein name Torsin-1B (Torsin ATPase-1B) (EC 3.6.4.-) (Torsin family 1 member B)
Protein function 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-neura
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06309 Torsin 51 176 Torsin Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with low levels in brain. {ECO:0000269|PubMed:15147511}.
Sequence
MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYLSYNDIYCRFAECCREE
RPLNASALKLDLEEKLFGQHLATEVIFKALTGFRNNKNPKKPLTLSLHGWAGTGKNFVSQ
IVAENLHPKGLKSNFVHLFVSTLHFPHEQKIKLYQDQLQKWIRGNVSACANSVFIF
DEMD
KLHPGIIDAIKPFLDYYEQVDGVSYRKAIFIFLSNAGGDLITKTALDFWRAGRKREDIQL
KDLEPVLSVGVFNNKHSGLWHSGLIDKNLIDYFIPFLPLEYRHVKMCVRAEMRARGSAID
EDIVTRVAEEMTFFPRDEKIYSDKGCKTVQSRLDFH
Sequence length 336
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cargo recognition for clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NON-ALCOHOLIC FATTY LIVER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Agranulocytosis Associate 7620171
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 36707670
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Stimulate 21108609
★☆☆☆☆
Found in Text Mining only
Crohn Disease Associate 19161089
★☆☆☆☆
Found in Text Mining only
Dystonic Disorders Associate 20669276
★☆☆☆☆
Found in Text Mining only
Myotonic Dystrophy Associate 27861808
★☆☆☆☆
Found in Text Mining only
Narcolepsy Associate 10215015
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Stimulate 36707670
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 36707670
★☆☆☆☆
Found in Text Mining only
Trachoma Stimulate 9274403
★☆☆☆☆
Found in Text Mining only