RAB3IL1
Guanine nucleotide exchange factor for Rab-3A
Also known as: GRAB, R3GEF_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TBN0
- Gene
- RAB3IL1
- Ensembl
- ENSG00000167994
- Chromosome
- 11
- Canonical length
- 382 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Centriolar satellite,Cytosol
OverviewNCBI Gene
This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]
Canonical amino-acid sequenceUniProt
382 residues, UniProt reviewed canonical sequence.
>Q8TBN0|RAB3IL1
1 MWSGPPQPDQ GLPPPLAAVP VPWKSTDPCQ GHRESPGALV ETSAGEEAQG QEGPAAAQLD
61 VLRLRSSSME IREKGSEFLK EELHRAQKEL KLKDEECERL SKVREQLEQE LEELTASLFE
121 EAHKMVREAN MKQAASEKQL KEARGKIDML QAEVTALKTL VITSTPASPN RELHPQLLSP
181 TKAGPRKGHS RHKSTSSTLC PAVCPAAGHT LTPDREGKEV DTILFAEFQA WRESPTLDKT
241 CPFLERVYRE DVGPCLDFTM QELSVLVRAA VEDNTLTIEP VASQTLPTVK VAEVDCSSTN
301 TCALSGLTRT CRHRIRLGDS KSHYYISPSS RARITAVCNF FTYIRYIQQG LVRQDAEPMF
361 WEIMRLRKEM SLAKLGFFPQ EALocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAB3IL1 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)
- 0.48
- Highest tissue expression
- 39 nTPM
Expression across tissuesHPA
Tissue
- testis: 39 nTPM
- cervix: 36 nTPM
- ovary: 35 nTPM
- adipose tissue: 28 nTPM
- endometrium: 28 nTPM
- spleen: 27 nTPM
Single-cell type
- late spermatids: 191 nCPM
- hofbauer cells: 146 nCPM
- early spermatids: 127 nCPM
- leydig cells: 57 nCPM
- kupffer cells: 51 nCPM
- peritubular myoid cells: 46 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 21 nTPM
- medulla oblongata: 17 nTPM
- choroid plexus: 16 nTPM
- white matter: 16 nTPM
- cerebral cortex: 16 nTPM
- spinal cord: 14 nTPM
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)
- 0.78
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.48
- DepMap mean gene effect
- -0.07
- 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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAB3IL1 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 RAB3IL1 as an antibody target. Whether an autoantibody or antibody against RAB3IL1 could matter depends on whether native RAB3IL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAB3IL1 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 RAB3IL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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