Entity Details

Primary name RB27A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51159
EntryNameRB27A_HUMAN
FullNameRas-related protein Rab-27A
TaxID9606
Evidenceevidence at protein level
Length221
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesRAB27A

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0003924 GTPase activity
GO:0003925 G protein activity
GO:0005525 GTP binding
GO:0005576 extracellular region
GO:0005764 lysosome
GO:0005770 late endosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006605 protein targeting
GO:0006887 exocytosis
GO:0007596 blood coagulation
GO:0010628 positive regulation of gene expression
GO:0016324 apical plasma membrane
GO:0019003 GDP binding
GO:0019882 antigen processing and presentation
GO:0019904 protein domain specific binding
GO:0030141 secretory granule
GO:0030318 melanocyte differentiation
GO:0030425 dendrite
GO:0030667 secretory granule membrane
GO:0031489 myosin V binding
GO:0032400 melanosome localization
GO:0032402 melanosome transport
GO:0032585 multivesicular body membrane
GO:0033093 Weibel-Palade body
GO:0033162 melanosome membrane
GO:0035580 specific granule lumen
GO:0036257 multivesicular body organization
GO:0042470 melanosome
GO:0043312 neutrophil degranulation
GO:0043316 cytotoxic T cell degranulation
GO:0043320 natural killer cell degranulation
GO:0045921 positive regulation of exocytosis
GO:0048489 synaptic vesicle transport
GO:0050766 positive regulation of phagocytosis
GO:0070062 extracellular exosome
GO:0070382 exocytic vesicle
GO:0071985 multivesicular body sorting pathway
GO:0097278 complement-dependent cytotoxicity
GO:1903307 positive regulation of regulated secretory pathway
GO:1903428 positive regulation of reactive oxygen species biosynthetic process
GO:1903435 positive regulation of constitutive secretory pathway
GO:1990182 exosomal secretion

Subcellular Location

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Subcellular Location
Late endosome
Lysosome
Melanosome
Membrane

Domains

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DomainNameCategoryType
IPR001806 Small GTPaseFamilyFamily
IPR005225 Small GTP-binding protein domainDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR041837 Rab27a/bFamilyFamily

Diseases

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Disease IDSourceNameDescription
607624 OMIMGriscelli syndrome 2 (GS2)Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. The disease is caused by variants affecting the gene represented in this entry.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
RB27A_HUMANERG28_HUMANBioGRID, HPRD, IntAct16169070 details
RB27A_HUMANCSN6_HUMANBioGRID, HPRD, IntAct16169070 details
RB27A_HUMANRBM48_HUMANBioGRID, HPRD, IntAct16169070 details
RB27A_HUMANGDF9_HUMANBioGRID, HPRD, IntAct16169070 details
RB27A_HUMANCE126_HUMANBioGRID, HPRD, IntAct16169070 details
RB27A_HUMANEF1A1_HUMANBioGRID, HPRD, IntAct16169070 details
RB27A_HUMANZBT16_HUMANBioGRID, HPRD, IntAct16169070 details
RB27A_HUMANMELPH_HUMANBioGRID, DIP, HPRD, IntAct, MINT, UniProt11773082 11856727 11980908 12062444 12446441 12897212 15059972 17045265 25312756 details
RB27A_HUMANSYTL1_HUMANBioGRID, HPRD, IntAct11773082 11980908 12590134 15998322 32296183 details
RB27A_HUMANSYTL4_HUMANBioGRID, HPRD, IntAct11773082 11865063 12101244 12176990 12590134 24700782 32296183 details
RB27A_HUMANSYTL5_HUMANBioGRID, HPRD, IntAct12051743 12590134 32296183 details
RB27A_HUMANMYRIP_HUMANBioGRID, HPRD, IntAct12590134 32296183 details
RB27A_HUMANSYTL3_HUMANBioGRID, HPRD, IntAct11773082 12590134 32296183 details
RB27A_HUMANUN13D_HUMANBioGRID, HPRD, IntAct14699162 16278825 25312756 details
RB27A_HUMANRPH3L_HUMANBioGRID, HPRD12578829 14593078 details
RB27A_HUMANSYTL2_HUMANBioGRID11773082 11980908 12590134 details
RB27A_HUMANLRIF1_HUMANBioGRID, HPRD16169070 details
RB27A_HUMANMYO5A_HUMANBioGRID, HPRD12006666 12062444 details
RB27A_HUMANA4_HUMANBioGRID21832049 details
RB27A_HUMANADRB2_HUMANBioGRID24561123 details
RB27A_HUMANRIF1_HUMANIntAct16169070 details
RB27A_HUMANRP3A_HUMANBioGRID, HPRD, IntAct12578829 28514442 details
RB27A_HUMANEXPH5_HUMANBioGRID11773082 details
RB27A_HUMANUN13B_HUMANBioGRID24043286 details
RB27A_HUMANSYT1_HUMANBioGRID22740627 details
RB27A_HUMANSTX1A_HUMANHPRD12101244 details
RB27A_HUMANGDIA_HUMANHPRD12802062 details
RB27A_HUMANRIMS1_HUMANHPRD12578829 details
RB27A_HUMANRIMS2_HUMANHPRD12578829 details
RB27A_HUMANGRAB_HUMANHPRD11266473 details
RB27A_HUMANPGTB2_HUMANHPRD12802062 details