RAB34
Ras-related protein Rab-34
Also known as: NARR, RAB34_HUMAN, RAB39, RAH
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BZG1
- Gene
- RAB34
- Ensembl
- ENSG00000109113
- Chromosome
- 17
- Canonical length
- 259 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Primary cilium,Centrosome,Cytosol
OverviewNCBI Gene
This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]
Canonical amino-acid sequenceUniProt
259 residues, UniProt reviewed canonical sequence.
>Q9BZG1|RAB34
1 MNILAPVRRD RVLAELPQCL RKEAALHGHK DFHPRVTCAC QEHRTGTVGF KISKVIVVGD
61 LSVGKTCLIN RFCKDTFDKN YKATIGVDFE MERFEVLGIP FSLQLWDTAG QERFKCIAST
121 YYRGAQAIII VFNLNDVASL EHTKQWLADA LKENDPSSVL LFLVGSKKDL STPAQYALME
181 KDALQVAQEM KAEYWAVSSL TGENVREFFF RVAALTFEAN VLAELEKSGA RRIGDVVRIN
241 SDDSNLYLTA SKKKPTCCPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAB34 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)
- 0.31
- Highest tissue expression
- 144 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 144 nTPM
- ovary: 110 nTPM
- cervix: 106 nTPM
- endometrium: 97 nTPM
- adrenal gland: 91 nTPM
- fallopian tube: 89 nTPM
Single-cell type
- decidual stromal cells: 221 nCPM
- peritubular myoid cells: 146 nCPM
- hepatic stellate cells: 142 nCPM
- breast myoepithelial cells: 128 nCPM
- epididymal basal cells: 127 nCPM
- ovarian stromal cells: 127 nCPM
Immune cell
- myeloid DC: 76 nTPM
- classical monocyte: 51 nTPM
- intermediate monocyte: 47 nTPM
- plasmacytoid DC: 47 nTPM
- non-classical monocyte: 24 nTPM
- total PBMC: 22 nTPM
Brain region
- choroid plexus: 33 nTPM
- medulla oblongata: 24 nTPM
- thalamus: 21 nTPM
- amygdala: 18 nTPM
- midbrain: 18 nTPM
- spinal cord: 18 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAB34.
Disease | AllUniProt
Conditions RAB34 is implicated in, by any mechanism.
- Orofaciodigital syndrome 20 (OFD20) MIM:620718
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 58 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Orofaciodigital syndrome 20
- Jeune thoracic dystrophy
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
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.08
- DepMap mean gene effect
- -0.26
- 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
- antigen processing and presentation
- cilium assembly
- cytosolic ciliogenesis
- Golgi to plasma membrane protein transport
- lysosome localization
- phagosome maturation
- phagosome-lysosome fusion
- positive regulation of smoothened signaling pathway
- protein localization to plasma membrane
Molecular functions
- G protein activity
- GTP binding
- GTP-dependent protein binding
- GTPase activity
- metal ion binding
- small GTPase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAB34 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 RAB34 as an antibody target. Whether an autoantibody or antibody against RAB34 could matter depends on whether native RAB34 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAB34 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 RAB34 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...