Entity Details

Primary name TGM3L_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95932
EntryNameTGM3L_HUMAN
FullNameProtein-glutamine gamma-glutamyltransferase 6
TaxID9606
Evidenceevidence at protein level
Length706
SequenceStatuscomplete
DateCreated2002-05-10
DateModified2021-04-07

Ontological Relatives

GenesTGM6

GO terms

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GOName
GO:0003810 protein-glutamine gamma-glutamyltransferase activity
GO:0005737 cytoplasm
GO:0018149 peptide cross-linking
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001102 Transglutaminase, N-terminalDomainDomain
IPR002931 Transglutaminase-likeDomainDomain
IPR008958 Transglutaminase, C-terminalDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR013808 Transglutaminase, active siteSiteActive site
IPR014756 Immunoglobulin E-setFamilyHomologous superfamily
IPR023608 Protein-glutamine gamma-glutamyltransferase, animalFamilyFamily
IPR036238 Transglutaminase, C-terminal domain superfamilyFamilyHomologous superfamily
IPR036985 Transglutaminase-like superfamilyFamilyHomologous superfamily
IPR038765 Papain-like cysteine peptidase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613908 OMIMSpinocerebellar ataxia 35 (SCA35)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00130 L-GlutamineDrugbanksmall molecule
DB01956 TaurineDrugbanksmall molecule

Interactions

0 interactions

InteractorPartnerSourcesPublicationsLink