Entity Details

Primary name FA83H_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6ZRV2
EntryNameFA83H_HUMAN
FullNameProtein FAM83H
TaxID9606
Evidenceevidence at protein level
Length1179
SequenceStatuscomplete
DateCreated2008-03-18
DateModified2021-06-02

Ontological Relatives

GenesFAM83H

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0007165 signal transduction
GO:0019901 protein kinase binding
GO:0030335 positive regulation of cell migration
GO:0031214 biomineral tissue development
GO:0044380 protein localization to cytoskeleton
GO:0045104 intermediate filament cytoskeleton organization
GO:1990254 keratin filament binding

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR012461 FAM83, N-terminalDomainDomain
IPR041996 FAM83H, N-terminal phospholipase D-like domainDomainDomain

Diseases

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Disease IDSourceNameDescription
130900 OMIMAmelogenesis imperfecta 3A (AI3A)An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
FA83H_HUMANKC1A_HUMANBioGRID, IntAct, UniProt23455922 26496610 27684187 28514442 29789297 details
FA83H_HUMANKC1E_HUMANBioGRID, IntAct, UniProt23455922 26496610 28514442 29789297 details
FA83H_HUMANUN45A_HUMANBioGRID, IntAct25036637 28514442 details