RAB27A
Ras-related protein Rab-27A
Also known as: GS2, HsT18676, RAB27, RAM, RB27A_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51159
- Gene
- RAB27A
- Ensembl
- ENSG00000069974
- Chromosome
- 15
- Canonical length
- 221 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Mid piece,Principal piece
OverviewNCBI Gene
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
221 residues, UniProt reviewed canonical sequence.
>P51159|RAB27A
1 MSDGDYDYLI KFLALGDSGV GKTSVLYQYT DGKFNSKFIT TVGIDFREKR VVYRASGPDG
61 ATGRGQRIHL QLWDTAGQER FRSLTTAFFR DAMGFLLLFD LTNEQSFLNV RNWISQLQMH
121 AYCENPDIVL CGNKSDLEDQ RVVKEEEAIA LAEKYGIPYF ETSAANGTNI SQAIEMLLDL
181 IMKRMERCVD KSWIPEGVVR SNGHASTDQL SEEKEKGACG CLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAB27A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 114 nTPM
Expression across tissuesHPA
Tissue
- stomach: 114 nTPM
- bone marrow: 95 nTPM
- rectum: 63 nTPM
- prostate: 59 nTPM
- colon: 51 nTPM
- lymph node: 44 nTPM
Single-cell type
- neutrophil progenitors: 1,541 nCPM
- neutrophils: 1,394 nCPM
- alveolar cells type 2: 417 nCPM
- goblet cells: 376 nCPM
- foveolar cells: 313 nCPM
- gonadotrophs: 294 nCPM
Immune cell
- basophil: 262 nTPM
- neutrophil: 115 nTPM
- eosinophil: 100 nTPM
- classical monocyte: 72 nTPM
- memory CD8 T-cell: 62 nTPM
- gdT-cell: 59 nTPM
Brain region
- hypothalamus: 9.8 nTPM
- thalamus: 9.5 nTPM
- pons: 9.1 nTPM
- medulla oblongata: 8.9 nTPM
- white matter: 8.9 nTPM
- choroid plexus: 8.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAB27A.
Disease | AllUniProt
Conditions RAB27A is implicated in, by any mechanism.
- Griscelli syndrome 2 (GS2) MIM:607624
Disease | GeneticClinVar
60 pathogenic / likely-pathogenic of 342 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Griscelli syndrome type 2
- Autoinflammatory syndrome
- RAB27A-related disorder
- See cases
- Multisystem inflammatory syndrome in children
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.65
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.51
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- antigen processing and presentation
- blood coagulation
- complement-dependent cytotoxicity
- exocytosis
- exosomal secretion
- melanocyte differentiation
- melanosome localization
- melanosome transport
- multivesicular body sorting pathway
- natural killer cell degranulation
- positive regulation of exocytosis
- positive regulation of gene expression
- positive regulation of phagocytosis
- positive regulation of reactive oxygen species biosynthetic process
- positive regulation of regulated secretory pathway
- protein secretion
- synaptic vesicle transport
- cytotoxic T cell degranulation
- multivesicular body organization
- positive regulation of constitutive secretory pathway
Molecular functions
- G protein activity
- GDP binding
- GTP binding
- GTPase activity
- myosin V binding
- protein domain specific binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAB27A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RAB27A as an antibody target. Whether an autoantibody or antibody against RAB27A could matter depends on whether native RAB27A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAB27A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RAB27A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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