Entity Details

Primary name RIT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92963
EntryNameRIT1_HUMAN
FullNameGTP-binding protein Rit1
TaxID9606
Evidenceevidence at protein level
Length219
SequenceStatuscomplete
DateCreated2003-10-31
DateModified2021-06-02

Ontological Relatives

GenesRIT1

GO terms

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GOName
GO:0003924 GTPase activity
GO:0003925 G protein activity
GO:0005516 calmodulin binding
GO:0005525 GTP binding
GO:0005886 plasma membrane
GO:0007165 signal transduction
GO:0007265 Ras protein signal transduction
GO:0019003 GDP binding

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR001806 Small GTPaseFamilyFamily
IPR005225 Small GTP-binding protein domainDomainDomain
IPR020849 Small GTPase, Ras-typeFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615355 OMIMNoonan syndrome 8 (NS8)A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. The disease is caused by variants affecting the gene represented in this entry.