Entity Details

Primary name ARMC9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7Z3E5
EntryNameARMC9_HUMAN
FullNameLisH domain-containing protein ARMC9
TaxID9606
Evidenceevidence at protein level
Length818
SequenceStatuscomplete
DateCreated2007-03-20
DateModified2021-06-02

Ontological Relatives

GenesARMC9

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005814 centriole
GO:0036064 ciliary basal body
GO:0045880 positive regulation of smoothened signaling pathway
GO:0060271 cilium assembly
GO:0070062 extracellular exosome
GO:0097542 ciliary tip

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR006594 LIS1 homology motifDomainDomain
IPR011989 Armadillo-like helicalFamilyHomologous superfamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR040369 LisH domain-containing protein ARMC9FamilyFamily

Diseases

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Disease IDSourceNameDescription
617622 OMIMJoubert syndrome 30 (JBTS30)A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ARMC9_HUMANSIAH1_HUMANBioGRID, IntAct25416956 details
ARMC9_HUMANCKLF5_HUMANBioGRID, IntAct25416956 details
ARMC9_HUMANKLHL8_HUMANBioGRID, IntAct32296183 details
ARMC9_HUMANA4_HUMANBioGRID21832049 details