GlyCosmos Portal

GlyTouCan

Glycan Structure Repository

GlyComb

Glycoconjugate Repository

GlycoPOST

Glycomics MS raw data Repository

UniCarb-DR

Glycomics MS Repository for glycan annotations from GlycoWorkbench

LM-GlycoRepo

Repository for lectin-assisted multimodality data

All Resources

Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms

Other Information

Release Statistics Download

Tools

Glycan Converters

LM-GlycomeAtlas

Search Tools

Cross Search Glycan Search Publication Search Programmatic Access

Guidelines

MIRAGE

torsin family 1 member A

Summary

Gene Symbol

TOR1A

Aliases

DQ2
torsin A
torsin-1A
torsinA

Organism

Homo sapiens (human)

External Links

NCBI Gene

1861

HGNC

3098

KEGG Gene ID

PubChem

1861

Alliance of Genome Resources

HGNC:3098

Annotation

Keyword

3D-structure
ATP-binding
Alternative splicing
Cell projection
Chaperone
Cytoplasmic vesicle
Cytoskeleton
Disease variant
Dystonia
Endoplasmic reticulum
Glycoprotein
Hydrolase
Membrane
Nucleus
Proteomics identification
Reference proteome
Signal
Synapse

Proteins

Displaying **all 2** entries
UniProt	Protein Name
O14656	Dystonia 1 protein Torsin ATPase-1A Torsin family 1 member A
B3KPA1	Dystonia 1 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 22 in total

1

2

3

4

5

Next ›

Last »
GO Term	Evidence Code	PMID
protein deneddylation	IMP
protein folding	IDA
response to oxidative stress	IEA
nuclear envelope organization	ISS
cell adhesion	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

protein metabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein removal [inference]

protein deneddylation

macromolecule modification [inference]

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein removal [inference]

protein deneddylation

primary metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein removal [inference]

protein deneddylation

intermediate filament-based process [inference]

intermediate filament cytoskeleton organization

synaptic vesicle transport

cell motility [inference]

cell migration [inference]

wound healing, spreading of cells

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

intermediate filament cytoskeleton organization

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development

membrane organization [inference]

response to stimulus [inference]

response to stress [inference]

response to oxidative stress

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

response to chemical [inference]

ERAD pathway

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

localization [inference]

macromolecule localization [inference]

intracellular protein localization [inference]

protein localization to organelle [inference]

protein localization to nucleus

establishment of localization [inference]

transport [inference]

synaptic vesicle transport

establishment of localization in cell [inference]

establishment of vesicle localization [inference]

synaptic vesicle transport

establishment of organelle localization [inference]

establishment of vesicle localization [inference]

synaptic vesicle transport

organelle localization [inference]

vesicle localization [inference]

establishment of vesicle localization [inference]

synaptic vesicle transport

synaptic vesicle localization [inference]

synaptic vesicle transport

establishment of organelle localization [inference]

establishment of vesicle localization [inference]

synaptic vesicle transport

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of protein localization [inference]

regulation of protein localization to cell surface

regulation of transport [inference]

positive regulation of transport [inference]

positive regulation of endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

positive regulation of synaptic vesicle recycling [inference]

positive regulation of synaptic vesicle endocytosis

regulation of neurotransmitter transport [inference]

regulation of neurotransmitter uptake [inference]

regulation of dopamine uptake involved in synaptic transmission

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

regulation of synaptic vesicle endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

regulation of synaptic vesicle recycling [inference]

regulation of synaptic vesicle endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

positive regulation of synaptic vesicle recycling [inference]

positive regulation of synaptic vesicle endocytosis

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

positive regulation of transport [inference]

positive regulation of endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

positive regulation of synaptic vesicle recycling [inference]

positive regulation of synaptic vesicle endocytosis

regulation of cellular process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

regulation of cellular component organization [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

regulation of synaptic vesicle endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

regulation of synaptic vesicle endocytosis [inference]

positive regulation of synaptic vesicle endocytosis

Displaying entries **1 - 5** of 29 in total

1

2

3

4

5

6

Next ›

Last »
GO Term	Evidence Code	PMID
nucleus	IEA
nuclear envelope	ISS
nuclear envelope	IBA
nuclear envelope	IEA
cytoplasm	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

vesicle membrane [inference]

cytoplasmic vesicle membrane

nuclear membrane

cell junction [inference]

synapse

site of polarized growth [inference]

growth cone

organelle envelope [inference]

nuclear envelope

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

transport vesicle

exocytic vesicle [inference]

synaptic vesicle

secretory vesicle [inference]

secretory granule

exocytic vesicle [inference]

synaptic vesicle

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

transport vesicle

exocytic vesicle [inference]

synaptic vesicle

secretory vesicle [inference]

secretory granule

exocytic vesicle [inference]

synaptic vesicle

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

membraneless organelle [inference]

intracellular membraneless organelle [inference]

cytoskeleton

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

transport vesicle

exocytic vesicle [inference]

synaptic vesicle

secretory vesicle [inference]

secretory granule

exocytic vesicle [inference]

synaptic vesicle

intracellular membraneless organelle [inference]

cytoskeleton

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 16 in total

1

2

3

4

Next ›

Last »
GO Term	Evidence Code	PMID
protein binding	IPI
ATP binding	IEA
cytoskeletal protein binding	IPI
cytoskeletal protein binding	IEA
ATP hydrolysis activity	IDA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

ATP hydrolysis activity

binding [inference]

protein binding

cytoskeletal protein binding

kinesin binding

small molecule binding [inference]

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

protein folding chaperone [inference]

ATP-dependent protein folding chaperone

ATP-dependent activity [inference]

ATP-dependent protein folding chaperone

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000136827

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0080981	arthrogryposis multiplex congenita-5	Alliance of Genome Resources
DOID:0060730	torsion dystonia 1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 92 in total

1

2

3

4

5

…

Next ›

Last »
HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000252	Microcephaly
HP:0000269	Prominent occiput
HP:0000311	Round face
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000395	Prominent antihelix
HP:0000400	Macrotia

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:36899	myoclonus-dystonia syndrome
ORPHA:256	early-onset generalized limb-onset dystonia
OMIM:618947	arthrogryposis multiplex congenita 5
OMIM:128100	early-onset generalized limb-onset dystonia

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying **all 4** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	30931	MGI:1353568
Rattus norvegicus	266606	RGD:628863
Caenorhabditis elegans	174433	WB:WBGene00003870
Drosophila melanogaster	31399	FB:FBgn0025615

About Release Notes Help Feedback

Click here to visit the beta site.

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

Logo License Policies Site Map

Contact: [email protected]

GlyCosmos Portal v4.5.0

Last updated: April 6, 2026