Entity Details

Primary name FA20A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96MK3
EntryNameFA20A_HUMAN
FullNamePseudokinase FAM20A
TaxID9606
Evidenceevidence at protein level
Length541
SequenceStatuscomplete
DateCreated2003-09-19
DateModified2021-06-02

Ontological Relatives

GenesFAM20A

GO terms

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GOName
GO:0001934 positive regulation of protein phosphorylation
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0006468 protein phosphorylation
GO:0009617 response to bacterium
GO:0031214 biomineral tissue development
GO:0043539 protein serine/threonine kinase activator activity
GO:0044691 tooth eruption
GO:0055074 calcium ion homeostasis
GO:0070062 extracellular exosome
GO:0070166 enamel mineralization

Subcellular Location

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Subcellular Location
Endoplasmic reticulum
Golgi apparatus
Secreted

Domains

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DomainNameCategoryType
IPR009581 FAM20, C-terminalDomainDomain
IPR024869 FAM20FamilyFamily

Diseases

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Disease IDSourceNameDescription
204690 OMIMAmelogenesis imperfecta 1G (AI1G)A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
FA20A_HUMANFA20C_HUMANIntAct25789606 details
FA20A_HUMANFA20A_HUMANIntAct25789606 details