Entity Details

Primary name TGM5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43548
EntryNameTGM5_HUMAN
FullNameProtein-glutamine gamma-glutamyltransferase 5
TaxID9606
Evidenceevidence at protein level
Length720
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesTGM5

GO terms

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GOName
GO:0003810 protein-glutamine gamma-glutamyltransferase activity
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0006464 cellular protein modification process
GO:0008544 epidermis development
GO:0018149 peptide cross-linking
GO:0046872 metal ion binding
GO:0070268 cornification

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
609796 OMIMPeeling skin syndrome 2 (PSS2)A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00130 L-GlutamineDrugbanksmall molecule