TOR1B torsin family 1 member B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOR1Bprovided by HGNC
Official Full Name: torsin family 1 member Bprovided by HGNC
Primary source: HGNC:HGNC:11995
See related: Ensembl:ENSG00000136816 MIM:608050; AllianceGenome:HGNC:11995
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DQ1
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. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in colon (RPKM 11.2), gall bladder (RPKM 7.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (129803184..129811281)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (142007762..142015860)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (132565463..132573560)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognostic implications of TOR1B expression across cancer types: a focus on basal-like breast cancer and cellular adaptations to hypoxia.
Title: Prognostic implications of TOR1B expression across cancer types: a focus on basal-like breast cancer and cellular adaptations to hypoxia.
TOR1B: a predictor of bone metastasis in breast cancer patients.
Title: TOR1B: a predictor of bone metastasis in breast cancer patients.
the induction of a conditional, dominant-negative TorsinB variant provokes a profound reorganization of the endomembrane system into foci containing double membrane structures that are derived from the ER.
Title: Arresting a Torsin ATPase reshapes the endoplasmic reticulum.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
torsinB is needed for developmental events occurring in the early postnatal phase and is necessary for functional activity throughout life
Title: TorsinB expression in the developing human brain.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31170 (e-PCR)
- UniSTS:4652

SGC31770 (e-PCR)
- UniSTS:72014

D9S983E (e-PCR)
- UniSTS:23220

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinesin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone cofactor-dependent protein refolding	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum organization	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to unfolded protein	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: torsin-1B

Names: torsin ATPase-1B; torsin B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317893.2 → NP_001304822.1 torsin-1B isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL158207

UniProtKB/Swiss-Prot

O14657

Conserved Domains (1) summary

cl21455
Location:51 → 176

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001317894.2 → NP_001304823.1 torsin-1B isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons and uses an alternate splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL158207

UniProtKB/TrEMBL

H0Y7C8

Related

ENSP00000411912.1, ENST00000427860.1

Conserved Domains (1) summary

cl21455
Location:51 → 158

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_014506.3 → NP_055321.1 torsin-1B isoform 1 precursor

See identical proteins and their annotated locations for NP_055321.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL158207

Consensus CDS

CCDS6929.1

UniProtKB/Swiss-Prot

O14657

Related

ENSP00000259339.2, ENST00000259339.7

Conserved Domains (2) summary

pfam06309
Location:51 → 176

Torsin

TIGR02639
Location:68 → 313

ClpA; ATP-dependent Clp protease ATP-binding subunit clpA

RNA

NR_133948.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL158207
NR_134027.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL158207
NR_134113.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses two alternate splice junctions compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL158207

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

129803184..129811281

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005251927.4 → XP_005251984.1 torsin-1B isoform X1

Conserved Domains (2) summary

smart00382
Location:101 → 244

AAA; ATPases associated with a variety of cellular activities

cl21455
Location:51 → 176

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases