RAB23
Ras-related protein Rab-23
Also known as: RAB23_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9ULC3
- Gene
- RAB23
- Ensembl
- ENSG00000112210
- Chromosome
- 6
- Canonical length
- 237 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cell Junctions,Primary cilium,Centrosome,Basal body,Cytosol
OverviewNCBI Gene
This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
237 residues, UniProt reviewed canonical sequence.
>Q9ULC3|RAB23
1 MLEEDMEVAI KMVVVGNGAV GKSSMIQRYC KGIFTKDYKK TIGVDFLERQ IQVNDEDVRL
61 MLWDTAGQEE FDAITKAYYR GAQACVLVFS TTDRESFEAV SSWREKVVAE VGDIPTVLVQ
121 NKIDLLDDSC IKNEEAEALA KRLKLRFYRT SVKEDLNVNE VFKYLAEKYL QKLKQQIAED
181 PELTHSSSNK IGVFNTSGGS HSGQNSGTLN GGDVINLRPN KQRTKKNRNP FSSCSIPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAB23 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)
- 0.38
- Highest tissue expression
- 70 nTPM
Expression across tissuesHPA
Tissue
- smooth muscle: 70 nTPM
- colon: 55 nTPM
- seminal vesicle: 52 nTPM
- endometrium: 49 nTPM
- urinary bladder: 44 nTPM
- cervix: 43 nTPM
Single-cell type
- smooth muscle cells: 106 nCPM
- cardiomyocytes: 43 nCPM
- retinal pigment epithelial cells: 43 nCPM
- decidual stromal cells: 34 nCPM
- peritubular myoid cells: 34 nCPM
- fibro-adipogenic progenitors: 34 nCPM
Immune cell
- naive CD4 T-cell: 0.3 nTPM
- eosinophil: 0.2 nTPM
- plasmacytoid DC: 0.2 nTPM
- memory CD4 T-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
- NK-cell: 0.1 nTPM
Brain region
- hypothalamus: 27 nTPM
- white matter: 18 nTPM
- cerebellum: 17 nTPM
- medulla oblongata: 14 nTPM
- spinal cord: 14 nTPM
- basal ganglia: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAB23.
Disease | AllUniProt
Conditions RAB23 is implicated in, by any mechanism.
- Carpenter syndrome 1 (CRPT1) MIM:201000
Disease | GeneticClinVar
38 pathogenic / likely-pathogenic of 321 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- RAB23-related Carpenter syndrome
- Carpenter syndrome
- RAB23-related disorder
- Inborn genetic diseases
- Clear cell carcinoma of kidney
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)
- 0.83
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.32
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
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
- autophagosome assembly
- cellular defense response
- cilium assembly
- craniofacial suture morphogenesis
- GTP metabolic process
- intracellular protein transport
- negative regulation of protein import into nucleus
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAB23 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 RAB23 as an antibody target. Whether an autoantibody or antibody against RAB23 could matter depends on whether native RAB23 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAB23 is annotated at the cell surface, where native RAB23 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 RAB23 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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