Entity Details

Primary name RHG26_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UNA1
EntryNameRHG26_HUMAN
FullNameRho GTPase-activating protein 26
TaxID9606
Evidenceevidence at protein level
Length814
SequenceStatuscomplete
DateCreated2002-07-11
DateModified2021-06-02

Ontological Relatives

GenesARHGAP26

GO terms

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GOName
GO:0005096 GTPase activator activity
GO:0005543 phospholipid binding
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005925 focal adhesion
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0030036 actin cytoskeleton organization
GO:0051056 regulation of small GTPase mediated signal transduction

Subcellular Location

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Subcellular Location
Cell junction
Cytoplasm

Domains

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DomainNameCategoryType
IPR000198 Rho GTPase-activating protein domainDomainDomain
IPR001452 SH3 domainDomainDomain
IPR001849 Pleckstrin homology domainDomainDomain
IPR008936 Rho GTPase activation proteinFamilyHomologous superfamily
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR027267 AH/BAR domain superfamilyFamilyHomologous superfamily
IPR030061 Rho GTPase-activating protein 26FamilyFamily
IPR035481 GRAF, SH3 domainDomainDomain
IPR035483 GRAF, BAR domainDomainDomain
IPR036028 SH3-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
607785 OMIMLeukemia, juvenile myelomonocytic (JMML)An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. The gene represented in this entry is involved in disease pathogenesis. A chromosomal translocation t(5;11)(q31;q23) with KMT2A/MLL1 has been found in leukemic cells from JMML patients, also carrying inactivating mutations on the second allele (PubMed:10908648).