RAB5C
Ras-related protein Rab-5C
Also known as: RAB5C_HUMAN, RAB5CL, RABL
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51148
- Gene
- RAB5C
- Ensembl
- ENSG00000108774
- Chromosome
- 17
- Canonical length
- 216 aa
- Protein class
- Enzymes, Plasma proteins, Predicted intracellular proteins, RAS pathway related proteins
- Subcellular location
- Endosomes
OverviewNCBI Gene
Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]
Canonical amino-acid sequenceUniProt
216 residues, UniProt reviewed canonical sequence.
>P51148|RAB5C
1 MAGRGGAARP NGPAAGNKIC QFKLVLLGES AVGKSSLVLR FVKGQFHEYQ ESTIGAAFLT
61 QTVCLDDTTV KFEIWDTAGQ ERYHSLAPMY YRGAQAAIVV YDITNTDTFA RAKNWVKELQ
121 RQASPNIVIA LAGNKADLAS KRAVEFQEAQ AYADDNSLLF METSAKTAMN VNEIFMAIAK
181 KLPKNEPQNA TGAPGRNRGV DLQENNPASR SQCCSNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAB5C 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 192 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 192 nTPM
- kidney: 140 nTPM
- adipose tissue: 128 nTPM
- duodenum: 127 nTPM
- basal ganglia: 122 nTPM
- small intestine: 117 nTPM
Single-cell type
- late spermatids: 67 nCPM
- early spermatids: 34 nCPM
- late primary spermatocytes: 23 nCPM
- parietal cells: 14 nCPM
- enterocytes: 11 nCPM
- platelets: 9.9 nCPM
Immune cell
- neutrophil: 196 nTPM
- eosinophil: 130 nTPM
- classical monocyte: 120 nTPM
- non-classical monocyte: 110 nTPM
- intermediate monocyte: 104 nTPM
- total PBMC: 99 nTPM
Brain region
- thalamus: 151 nTPM
- hypothalamus: 142 nTPM
- medulla oblongata: 137 nTPM
- white matter: 136 nTPM
- cerebral cortex: 134 nTPM
- midbrain: 133 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAB5C.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 44 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- RAB5C-related disorder
- Inborn genetic diseases
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)
- 0.36
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 1.42
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endocytosis
- endosomal transport
- endosome organization
- intracellular protein transport
- plasma membrane to endosome transport
- regulation of endocytosis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAB5C 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 RAB5C as an antibody target. Whether an autoantibody or antibody against RAB5C could matter depends on whether native RAB5C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAB5C is annotated at the cell surface, where native RAB5C is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RAB5C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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