Entity Details

Primary name EPB42_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP16452
EntryNameEPB42_HUMAN
FullNameProtein 4.2
TaxID9606
Evidenceevidence at protein level
Length691
SequenceStatuscomplete
DateCreated1990-08-01
DateModified2021-06-02

Ontological Relatives

GenesEPB42

GO terms

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GOName
GO:0000902 cell morphogenesis
GO:0003810 protein-glutamine gamma-glutamyltransferase activity
GO:0005200 structural constituent of cytoskeleton
GO:0005524 ATP binding
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0008360 regulation of cell shape
GO:0018149 peptide cross-linking
GO:0020027 hemoglobin metabolic process
GO:0030863 cortical cytoskeleton
GO:0043249 erythrocyte maturation
GO:0048536 spleen development
GO:0055072 iron ion homeostasis

Subcellular Location

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Subcellular Location
Cell membrane
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
612690 OMIMSpherocytosis 5 (SPH5)Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. The disease is caused by variants affecting the gene represented in this entry.