Entity Details

Primary name ARMC5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96C12
EntryNameARMC5_HUMAN
FullNameArmadillo repeat-containing protein 5
TaxID9606
Evidenceevidence at protein level
Length935
SequenceStatuscomplete
DateCreated2007-04-17
DateModified2021-06-02

Ontological Relatives

GenesARMC5

GO terms

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GOName
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005925 focal adhesion

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000210 BTB/POZ domainDomainDomain
IPR000225 ArmadilloRepeatRepeat
IPR011333 SKP1/BTB/POZ domain superfamilyFamilyHomologous superfamily
IPR011989 Armadillo-like helicalFamilyHomologous superfamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615954 OMIMACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2)A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. The disease is caused by variants affecting the gene represented in this entry.