GlyCosmos Portal

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GO Term	Evidence Code	PMID
protein binding	IPI	15147511 15505207 15767459 18167355 18827015 21102408 23569223 25416956 25910212 32296183 32814053 33961781
ATP binding	IEA
cytoskeletal protein binding	IPI	16361107 18827015
ATP hydrolysis activity	IDA	23569223
kinesin binding	IBA

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]

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

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

organic cyclic compound binding [inference]

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

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide 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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Torsin

Functional Category

J: Translation, ribosomal structure and biogenesis
L: Replication, recombination and repair
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
ATP binding

Displaying **all 4** entries
InterPro
ClpA/B family
P-loop containing nucleoside triphosphate hydrolase
Torsin-1A, C-terminal domain
Torsin

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:0060730	torsion dystonia 1	Alliance of Genome Resources
DOID:0080981	arthrogryposis multiplex congenita-5	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **31 - 40** of 92 in total

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HPO ID	HPO Term
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001304	Torsion dystonia
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001347	Hyperreflexia

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

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **1 - 10** of 83 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	1861	Xenbase:XB-GENE-943837
Danio rerio	27348	ZFIN:ZDB-GENE-080917-50
Drosophila melanogaster	27433	FB:FBgn0025615
Mus musculus	30931	Xenbase:XB-GENE-943837	MOUSE33228
Drosophila melanogaster	30933	FB:FBgn0025615
Danio rerio	30934	ZFIN:ZDB-GENE-080917-50
Drosophila melanogaster	30935	FB:FBgn0025615
Xenopus tropicalis	31399	Xenbase:XB-GENE-943837
Drosophila melanogaster	64222	FB:FBgn0025615
Xenopus tropicalis	174433	Xenbase:XB-GENE-943837

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements