RAB1B
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Summary
RAB1B (RAB1B, member RAS oncogene family, HGNC:18370) is a protein-coding gene on chromosome 11q13.2, encoding Ras-related protein Rab-1B (Q9H0U4). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. It is a selective cancer dependency (DepMap: 13.0% of cell lines).
Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).
Source: NCBI Gene 81876 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 23 total
- Cancer dependency (DepMap): dependent in 13.0% of screened cell lines
- MANE Select transcript:
NM_030981
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18370 |
| Approved symbol | RAB1B |
| Name | RAB1B, member RAS oncogene family |
| Location | 11q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000174903 |
| Ensembl biotype | protein_coding |
| OMIM | 612565 |
| Entrez | 81876 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000311481, ENST00000527397, ENST00000884282, ENST00000884283, ENST00000884284
RefSeq mRNA: 1 — MANE Select: NM_030981
NM_030981
CCDS: CCDS31613
Canonical transcript exons
ENST00000311481 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001189419 | 66276044 | 66277492 |
| ENSE00001189431 | 66272365 | 66272460 |
| ENSE00001189438 | 66272157 | 66272252 |
| ENSE00001189443 | 66271797 | 66271869 |
| ENSE00002143744 | 66268639 | 66268693 |
| ENSE00002712711 | 66275804 | 66275935 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 98.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 96.0443 / max 419.9149, expressed in 1823 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115305 | 80.0290 | 1821 |
| 115304 | 15.1508 | 1796 |
| 115306 | 0.8247 | 426 |
| 115303 | 0.0398 | 14 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 98.58 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.39 | gold quality |
| lower esophagus | UBERON:0013473 | 98.34 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.34 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.32 | gold quality |
| apex of heart | UBERON:0002098 | 98.26 | gold quality |
| skin of leg | UBERON:0001511 | 98.24 | gold quality |
| body of stomach | UBERON:0001161 | 98.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.16 | gold quality |
| transverse colon | UBERON:0001157 | 98.15 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.14 | gold quality |
| right coronary artery | UBERON:0001625 | 98.10 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.10 | gold quality |
| esophagus | UBERON:0001043 | 98.07 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.06 | gold quality |
| left coronary artery | UBERON:0001626 | 98.06 | gold quality |
| popliteal artery | UBERON:0002250 | 98.06 | gold quality |
| tibial artery | UBERON:0007610 | 98.06 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.05 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.05 | gold quality |
| right lung | UBERON:0002167 | 98.04 | gold quality |
| granulocyte | CL:0000094 | 98.03 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.01 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.01 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.00 | gold quality |
| ascending aorta | UBERON:0001496 | 97.99 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.99 | gold quality |
| aorta | UBERON:0000947 | 97.98 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.98 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.98 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8894 | no | 118.62 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
106 targeting RAB1B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 13.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 22)
- These data support a model where Rab1b-GTP induces GBF1 recruitment at the ERES interface and at the Golgi complex where it is required for COPII/COPI exchange or COPI vesicle formation, respectively. (PMID:17429068)
- findings show that SidM from Legionella pneumophila could act as both a GDP-GTP exchange factor and GDP-dissociation inhibitor-displacement factor (GDF) for Rab1 (PMID:17947549)
- The authors demonstrate that Rab1b-activated GBF1 and ARF1 are involved in Ebolavirus virion formation, suggesting that both the COPII and COPI transport systems play a role in Ebolavirus VP40-mediated particle formation. (PMID:20164217)
- Antibacterial autophagy occurs at omegasomes and reveal that the Rab1 GTPase plays a crucial role in mammalian autophagy. (PMID:20980813)
- Rab1b is a key regulatory component of COPII dynamics and function. (PMID:21093099)
- Rab1a/b and Rab43, are important for herpes simplex virus 1 virion assembly (PMID:21680502)
- results indicate that the cellular localization of MTMR6 is regulated by Rab1B in the early secretory and autophagic pathways (PMID:23188820)
- The detailed molecular reaction mechanism of a complex between human Rab and RabGAP at the highest possible spatiotemporal resolution and in atomic detail, is described. (PMID:23236136)
- The crystal structure of the Rab1b-LepB complex. (PMID:23288104)
- Our results show, for the first time, that changes in Rab1b levels modulate gene transcription and strongly suggest that a Rab1b increase is required to elicit a secretory response. (PMID:23325787)
- RAB1B acts as a metastasis suppressor in triple-negative breast cancer by regulating the TGF-beta/SMAD signaling pathway and RAB1B may serve as a biomarker of prognosis and response to anti-tumor therapeutics for patients with triple-negative breast cancer. (PMID:25970785)
- RAB1B localization to the Golgi. (PMID:26977884)
- Survival analysis indicates that patients with overexpression of Rab1B or MMP9 have significantly worse overall survival and progression-free survival, but better response to chemotherapy than those with low expression of proteins, and that Rab1B is an independent prognostic factor for colorectal cancer patients. (PMID:28316326)
- In these Rab1B-depleted cells, ATG9A accumulated in intermediate membrane structures at autophagosome formation sites. These results indicate that Rab1B is involved in regulating the proper development of autophagosomes. (PMID:28522593)
- Rab1b differentially controls the secretion of apolipoproteins and of HCV. (PMID:29020629)
- ARF5 and Rab1b exhibit RNA-binding capacity, suggesting a role for domain 3 of the IRES in RNA localization into specific cellular compartments. (PMID:30655362)
- RAB1b interacts with TRAF3 to promote antiviral innate immunity. (PMID:31375559)
- Rab1-AMPylation by Legionella DrrA is allosterically activated by Rab1. (PMID:33469029)
- LINC00173 facilitates tumor progression by stimulating RAB1B-mediated PA2G4 and SDF4 secretion in nasopharyngeal carcinoma. (PMID:36606322)
- Circ_RBM23 knockdown suppresses chemoresistance, proliferation, migration and invasion of sorafenib-resistant HCC cells through miR-338-3p/RAB1B axis. (PMID:37075641)
- Dephosphocholination by Legionella effector Lem3 functions through remodelling of the switch II region of Rab1b. (PMID:37076474)
- MicroR-380-3p Reduces Sepsis-Induced Acute Kidney Injury via Regulating RAB1P to Restrain NF-kappaB Pathway. (PMID:38220171)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rab1ab | ENSDARG00000029663 |
| danio_rerio | rab1aa | ENSDARG00000052263 |
| mus_musculus | Rab1b | ENSMUSG00000024870 |
| rattus_norvegicus | Rab1b | ENSRNOG00000050510 |
| rattus_norvegicus | Rab1b | ENSRNOG00000070897 |
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955)
Protein
Protein identifiers
Ras-related protein Rab-1B — Q9H0U4 (reviewed: Q9H0U4)
All UniProt accessions (2): Q9H0U4, E9PLD0
UniProt curated annotations — full annotation on UniProt →
Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum. Regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments. Required to modulate the compacted morphology of the Golgi. Promotes the recruitment of lipid phosphatase MTMR6 to the endoplasmic reticulum-Golgi intermediate compartment.
Subunit / interactions. Interacts with MICAL1 and MICAL2. Interacts (in GTP-bound form) with MICALCL, MICAL1 and MILCAL3. Interacts with GDI1; the interaction requires the GDP-bound state. Interacts with CHM/REP1; the interaction requires the GDP-bound form and is necessary for prenylation by GGTase II. Interacts with RabGAP TBC1D20. Interacts (in GDP-bound form) with lipid phosphatase MTMR6 (via GRAM domain); the interaction regulates MTMR6 recruitment to the endoplasmic reticulum-Golgi intermediate compartment. Interacts (in GDP-bound form) with lipid phosphatase MTMR7. (Microbial infection) Interacts with L.pneumophila AnkX. Interacts with L.pneumophila Lem3. Interacts with L.pneumophila SidD. Interacts with L.pneumophila DrrA.
Subcellular location. Cytoplasm. Membrane. Preautophagosomal structure membrane. Perinuclear region.
Post-translational modifications. Prenylated; by GGTase II, only after interaction of the substrate with Rab escort protein 1 (REP1). (Microbial infection) AMPylation at Tyr-77 by L.pneumophila DrrA occurs in the switch 2 region and leads to moderate inactivation of the GTPase activity. It appears to prolong the lifetime of the GTP state of RAB1B by restricting access of GTPase effectors to switch 2 and blocking effector-stimulated GTP hydrolysis, thereby rendering RAB1B constitutively active. It is later de-AMPylated by L.pneumophila SidD, releasing RAB1B from bacterial phagosomes. (Microbial infection) Phosphocholinated at Ser-76 by L.pneumophila AnkX, leading to displace GDP dissociation inhibitors (GDI). Both GDP-bound and GTP-bound forms can be phosphocholinated. Dephosphocholinated by L.pneumophila Lem3, restoring accessibility to L.pneumophila GTPase effector LepB. (Microbial infection) Glycosylated by S.typhimurium protein Ssek3: arginine GlcNAcylation prevents GTPase activity, thereby disrupting vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment.
Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) including TBC1D20 which increases the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).
Domain organisation. Switch I, switch II and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drives interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.
Miscellaneous. Rab-1B binds GTP and GDP and possesses low intrinsic GTPase activity.
Similarity. Belongs to the small GTPase superfamily. Rab family.
RefSeq proteins (1): NP_112243* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR050227 | Rab | Family |
| IPR057289 | Rab1/Ypt1 | Family |
Pfam: PF00071
Enzyme classification (BRENDA):
- EC 3.6.5.2 — small monomeric GTPase (BRENDA: 49 organisms, 138 substrates, 55 inhibitors, 5 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GTP | — | 0 |
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (63 total): binding site 23, mutagenesis site 11, helix 8, strand 7, region of interest 4, modified residue 4, turn 3, lipid moiety-binding region 2, chain 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3NKV | X-RAY DIFFRACTION | 1.7 |
| 3JZA | X-RAY DIFFRACTION | 1.8 |
| 8ALK | X-RAY DIFFRACTION | 2.15 |
| 5SZH | X-RAY DIFFRACTION | 2.3 |
| 5O74 | X-RAY DIFFRACTION | 2.5 |
| 4I1O | X-RAY DIFFRACTION | 2.7 |
| 5SZK | X-RAY DIFFRACTION | 2.8 |
| 6SKU | X-RAY DIFFRACTION | 3.2 |
| 4HLQ | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0U4-F1 | 86.40 | 0.71 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (23): 22; 22; 23; 33; 34; 35; 36; 39; 40; 40; 63; 66 …
Post-translational modifications (6): 1, 76, 77, 201, 200, 201
Mutagenesis-validated functional residues (11):
| Position | Phenotype |
|---|---|
| 67 | no effect on gdi1 binding. reduces prenylation in vitro, but not in vivo. no effect on interaction with rep1/chm; 100-fo |
| 73 | abolishes interaction with rep1/chm. no prenylation. much lower gdp/gtp ratio. |
| 76 | abolishes phosphocholination by legionella ankx. |
| 77 | abolishes ampylation by legionella drra. |
| 78 | abolishes interaction with rep1/chm and gdi1. no prenylation. much lower gdp/gtp ratio. no membrane association. |
| 81 | abolishes interaction with rep1/chm. no prenylation. lowers gdp/gtp ratio by half. |
| 103 | no effect on prenylation. |
| 110 | no effect on prenylation. |
| 121 | prevent formation of autophagosomes. |
| 137 | no effect on prenylation. |
| 144 | no effect on prenylation. |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-162658 | Golgi Cisternae Pericentriolar Stack Reorganization |
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-8873719 | RAB geranylgeranylation |
| R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
MSigDB gene sets: 212 (showing top):
GCACCTT_MIR18A_MIR18B, GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, WWTAAGGC_UNKNOWN, TGCGCANK_UNKNOWN, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_ENDOTHELIAL_INTESTINAL_BARRIER, LFA1_Q6, AAGCCAT_MIR135A_MIR135B, GCAAGGA_MIR502, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VACUOLE_ORGANIZATION, REACTOME_MEMBRANE_TRAFFICKING
GO Biological Process (9): autophagosome assembly (GO:0000045), intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), Golgi organization (GO:0007030), virion assembly (GO:0019068), positive regulation of glycoprotein metabolic process (GO:1903020), regulation of autophagosome assembly (GO:2000785), autophagy (GO:0006914), protein transport (GO:0015031)
GO Molecular Function (6): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (13): Golgi membrane (GO:0000139), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), endomembrane system (GO:0012505), transport vesicle (GO:0030133), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), phagophore assembly site membrane (GO:0034045), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 2 |
| Mitotic Prophase | 1 |
| Golgi-to-ER retrograde transport | 1 |
| Post-translational protein modification | 1 |
| Rab regulation of trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 5 |
| cellular anatomical structure | 5 |
| intracellular protein localization | 2 |
| intracellular transport | 2 |
| bounding membrane of organelle | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| protein transport | 1 |
| intercellular transport | 1 |
| Golgi vesicle transport | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| viral process | 1 |
| viral life cycle | 1 |
| glycoprotein metabolic process | 1 |
| positive regulation of protein metabolic process | 1 |
| regulation of glycoprotein metabolic process | 1 |
| autophagosome assembly | 1 |
| regulation of vacuole organization | 1 |
| regulation of organelle assembly | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
Protein interactions and networks
STRING
2303 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAB1B | TBC1D20 | Q96BZ9 | 916 |
| RAB1B | GOLGA2 | Q08379 | 892 |
| RAB1B | PITPNC1 | Q9UKF7 | 880 |
| RAB1B | RUSC2 | Q8N2Y8 | 866 |
| RAB1B | LMAN1 | P49257 | 851 |
| RAB1B | RABIF | P47224 | 676 |
| RAB1B | COPB1 | P53618 | 663 |
| RAB1B | LRPAP1 | P30533 | 595 |
| RAB1B | USO1 | O60763 | 572 |
| RAB1B | MICAL3 | Q7RTP6 | 568 |
| RAB1B | GOLGA5 | Q8TBA6 | 560 |
| RAB1B | TRAPPC8 | Q9Y2L5 | 542 |
| RAB1B | MTMR6 | Q9Y217 | 537 |
| RAB1B | MICAL1 | Q8TDZ2 | 515 |
| RAB1B | GBF1 | Q92538 | 507 |
IntAct
127 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GDI1 | RAB4A | psi-mi:“MI:0914”(association) | 0.820 |
| RABIF | RAB1B | psi-mi:“MI:0915”(physical association) | 0.800 |
| LRRK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.790 | |
| RABIF | RAB3A | psi-mi:“MI:0914”(association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| RAB1B | OCRL | psi-mi:“MI:0407”(direct interaction) | 0.670 |
| OCRL | RAB1B | psi-mi:“MI:0407”(direct interaction) | 0.670 |
| RAB8B | GDI1 | psi-mi:“MI:0914”(association) | 0.640 |
| RAB1B | psi-mi:“MI:0407”(direct interaction) | 0.620 | |
| LRRK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.620 | |
| LRRK2 | RAB1B | psi-mi:“MI:0217”(phosphorylation reaction) | 0.590 |
| RAB1B | RUSC2 | psi-mi:“MI:0915”(physical association) | 0.570 |
| RUSC2 | RAB1B | psi-mi:“MI:0915”(physical association) | 0.570 |
| GOLGA2 | RAB1B | psi-mi:“MI:0915”(physical association) | 0.550 |
| PITPNC1 | RAB1B | psi-mi:“MI:0915”(physical association) | 0.540 |
| PITPNC1 | RAB1B | psi-mi:“MI:0403”(colocalization) | 0.540 |
| MAPT | KIF2A | psi-mi:“MI:0914”(association) | 0.530 |
| RAB1A | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| RAB1B | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| RABIF | RAB13 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (653): RAB1B (Affinity Capture-MS), GDI1 (Affinity Capture-MS), GDI2 (Affinity Capture-MS), RAB1A (Affinity Capture-MS), RAB8B (Affinity Capture-MS), CHML (Affinity Capture-MS), CHM (Affinity Capture-MS), BZW2 (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RAB33B (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), RAB1B (Affinity Capture-MS), RAB1B (Affinity Capture-MS), ATP1A1 (Co-fractionation), ATP1A3 (Co-fractionation)
ESM2 similar proteins: E2RQ15, O01803, O23561, P05714, P10536, P16976, P20338, P28185, P28188, P31584, P36410, P36861, P40392, P51146, P56371, P57735, P61017, P61018, P61106, P61107, Q05737, Q06AU7, Q2HJH2, Q2TBH7, Q39571, Q40191, Q40520, Q40522, Q40523, Q40723, Q4R8X3, Q52NJ6, Q53B90, Q58DW6, Q5R8Z8, Q5RE13, Q5ZKU5, Q68EK7, Q8CG50, Q91V41
Diamond homologs: A1DZY4, A6QP66, A8NU18, C4YKT4, O08989, O14807, O35929, O88667, O93856, O94363, P01119, P03967, P08645, P08647, P0CY32, P10114, P10536, P11233, P11234, P15064, P17609, P22124, P22126, P22278, P22279, P22280, P28775, P32254, P36860, P36863, P48555, P59279, P61105, P61225, P61226, P61227, P62070, P62071, P63320, P63321
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 122 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| RAB geranylgeranylation | 9 | 17.5× | 6e-07 |
| RAB GEFs exchange GTP for GDP on RABs | 10 | 13.9× | 6e-07 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 6 | 10.4× | 3e-03 |
| ER-Phagosome pathway | 7 | 10.2× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| exocytosis | 8 | 11.2× | 6e-04 |
| vesicle-mediated transport | 8 | 7.1× | 3e-03 |
| endocytosis | 8 | 7.0× | 3e-03 |
| protein transport | 13 | 5.3× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1007 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:66268689:GAATA:G | donor_gain | 1.0000 |
| 11:66268690:AATA:A | donor_gain | 1.0000 |
| 11:66268691:ATA:A | donor_gain | 1.0000 |
| 11:66268691:ATAGT:A | donor_loss | 1.0000 |
| 11:66268692:TA:T | donor_gain | 1.0000 |
| 11:66268692:TAGT:T | donor_loss | 1.0000 |
| 11:66268693:AGT:A | donor_loss | 1.0000 |
| 11:66268694:G:GG | donor_gain | 1.0000 |
| 11:66268695:T:A | donor_loss | 1.0000 |
| 11:66268698:G:GG | donor_gain | 1.0000 |
| 11:66268744:GGGCT:G | donor_gain | 1.0000 |
| 11:66268745:GGCTG:G | donor_gain | 1.0000 |
| 11:66271793:CCA:C | acceptor_loss | 1.0000 |
| 11:66271794:CAG:C | acceptor_loss | 1.0000 |
| 11:66271795:A:AG | acceptor_gain | 1.0000 |
| 11:66271795:AGT:A | acceptor_gain | 1.0000 |
| 11:66271796:G:GA | acceptor_gain | 1.0000 |
| 11:66271796:GT:G | acceptor_gain | 1.0000 |
| 11:66271796:GTG:G | acceptor_gain | 1.0000 |
| 11:66271796:GTGA:G | acceptor_gain | 1.0000 |
| 11:66271796:GTGAC:G | acceptor_gain | 1.0000 |
| 11:66271867:GCT:G | donor_gain | 1.0000 |
| 11:66271870:G:GG | donor_gain | 1.0000 |
| 11:66271874:G:GG | donor_gain | 1.0000 |
| 11:66272137:ATT:A | acceptor_gain | 1.0000 |
| 11:66272137:ATTG:A | acceptor_gain | 1.0000 |
| 11:66272139:T:A | acceptor_gain | 1.0000 |
| 11:66272146:T:TA | acceptor_gain | 1.0000 |
| 11:66272149:A:AG | acceptor_gain | 1.0000 |
| 11:66272150:C:G | acceptor_gain | 1.0000 |
AlphaMissense
1317 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:66271825:G:C | G15R | 1.000 |
| 11:66271825:G:T | G15C | 1.000 |
| 11:66271826:G:A | G15D | 1.000 |
| 11:66271826:G:T | G15V | 1.000 |
| 11:66271840:G:C | G20R | 1.000 |
| 11:66271840:G:T | G20C | 1.000 |
| 11:66271841:G:A | G20D | 1.000 |
| 11:66271841:G:T | G20V | 1.000 |
| 11:66271843:A:C | K21Q | 1.000 |
| 11:66271844:A:T | K21M | 1.000 |
| 11:66271845:G:C | K21N | 1.000 |
| 11:66271845:G:T | K21N | 1.000 |
| 11:66271847:C:T | S22L | 1.000 |
| 11:66271856:T:C | L25P | 1.000 |
| 11:66271859:T:C | L26P | 1.000 |
| 11:66272184:A:C | S39R | 1.000 |
| 11:66272186:C:A | S39R | 1.000 |
| 11:66272186:C:G | S39R | 1.000 |
| 11:66272188:C:T | T40I | 1.000 |
| 11:66272191:T:A | I41N | 1.000 |
| 11:66272193:G:A | G42R | 1.000 |
| 11:66272193:G:C | G42R | 1.000 |
| 11:66272193:G:T | G42W | 1.000 |
| 11:66272194:G:A | G42E | 1.000 |
| 11:66272194:G:T | G42V | 1.000 |
| 11:66272199:G:C | D44H | 1.000 |
| 11:66272200:A:G | D44G | 1.000 |
| 11:66272200:A:T | D44V | 1.000 |
| 11:66272202:T:C | F45L | 1.000 |
| 11:66272203:T:C | F45S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000191800 (11:66271613 A>G), RS1000302602 (11:66273055 G>A), RS1000423122 (11:66267715 T>C,G), RS1000529268 (11:66273167 C>T), RS1000628682 (11:66271383 G>T), RS1001003665 (11:66271626 A>G), RS1001305418 (11:66277729 G>A,T), RS1001448336 (11:66267563 A>G), RS1001599826 (11:66268004 C>A), RS1001690799 (11:66272521 T>G), RS1001829341 (11:66267750 A>C), RS1001863620 (11:66272563 G>A), RS1002029262 (11:66267781 G>A), RS1002096887 (11:66274062 C>T), RS1002398632 (11:66271954 G>A,T)
Disease associations
OMIM: gene MIM:612565 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_12 | Bipolar disorder | 2.000000e-07 |
| GCST008103_21 | Bipolar disorder | 2.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| arsenite | increases abundance, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| ochratoxin A | affects binding | 1 |
| cupric oxide | decreases expression | 1 |
| ochratoxin B | affects binding | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| MT19c compound | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Azacitidine | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dactinomycin | increases secretion, affects cotreatment | 1 |
| Bucladesine | affects cotreatment, increases expression | 1 |
| Diuron | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3FL | Abcam HEK293T RAB1B KO | Transformed cell line | Female |
| CVCL_TH99 | HAP1 RAB1B (-) 1 | Cancer cell line | Male |
| CVCL_TI00 | HAP1 RAB1B (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.