RAB11A
geneOn this page
Also known as YL8
Summary
RAB11A (RAB11A, member RAS oncogene family, HGNC:9760) is a protein-coding gene on chromosome 15q22.31, encoding Ras-related protein Rab-11A (P62491). 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: 20.4% of cell lines).
The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 8766 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +2 more curated relationships
- GWAS associations: 18
- Clinical variants (ClinVar): 130 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 20.4% of screened cell lines
- MANE Select transcript:
NM_004663
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9760 |
| Approved symbol | RAB11A |
| Name | RAB11A, member RAS oncogene family |
| Location | 15q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | YL8 |
| Ensembl gene | ENSG00000103769 |
| Ensembl biotype | protein_coding |
| OMIM | 605570 |
| Entrez | 8766 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000261890, ENST00000563580, ENST00000564910, ENST00000565075, ENST00000566233, ENST00000567671, ENST00000568850, ENST00000569304, ENST00000569896, ENST00000886505, ENST00000886506, ENST00000886507
RefSeq mRNA: 2 — MANE Select: NM_004663
NM_001206836, NM_004663
CCDS: CCDS10212, CCDS58373
Canonical transcript exons
ENST00000261890 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000694763 | 65879671 | 65879751 |
| ENSE00001958491 | 65887701 | 65891989 |
| ENSE00002628618 | 65869491 | 65869625 |
| ENSE00003533937 | 65877762 | 65877955 |
| ENSE00003583420 | 65877332 | 65877527 |
Expression profiles
Bgee: expression breadth ubiquitous, 304 present calls, max score 99.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 164.4725 / max 1899.8937, expressed in 1827 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147253 | 115.1727 | 1826 |
| 147254 | 24.8894 | 1801 |
| 147255 | 19.4882 | 1777 |
| 147252 | 1.7236 | 1127 |
| 147246 | 0.6214 | 136 |
| 147256 | 0.6057 | 304 |
| 147244 | 0.4362 | 182 |
| 147257 | 0.4092 | 174 |
| 147247 | 0.3275 | 85 |
| 147249 | 0.3181 | 68 |
Top tissues by expression
304 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| esophagus squamous epithelium | UBERON:0006920 | 99.62 | gold quality |
| gingiva | UBERON:0001828 | 99.54 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.54 | gold quality |
| squamous epithelium | UBERON:0006914 | 99.49 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 99.48 | gold quality |
| oral cavity | UBERON:0000167 | 99.47 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.39 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.33 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.25 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.25 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.23 | gold quality |
| amniotic fluid | UBERON:0000173 | 99.12 | gold quality |
| cortical plate | UBERON:0005343 | 99.12 | gold quality |
| upper leg skin | UBERON:0004262 | 99.09 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.07 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.05 | gold quality |
| rectum | UBERON:0001052 | 99.04 | gold quality |
| adrenal tissue | UBERON:0018303 | 99.03 | gold quality |
| gall bladder | UBERON:0002110 | 99.00 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 99.00 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.99 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.96 | gold quality |
| penis | UBERON:0000989 | 98.94 | gold quality |
| skin of leg | UBERON:0001511 | 98.93 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.91 | gold quality |
| zone of skin | UBERON:0000014 | 98.90 | gold quality |
| adult organism | UBERON:0007023 | 98.87 | gold quality |
| left testis | UBERON:0004533 | 98.85 | gold quality |
| monocyte | CL:0000576 | 98.84 | gold quality |
| right testis | UBERON:0004534 | 98.84 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 46.82 |
| E-HCAD-11 | yes | 42.96 |
| E-CURD-122 | yes | 22.06 |
| E-HCAD-1 | yes | 20.33 |
| E-CURD-46 | yes | 14.63 |
| E-GEOD-135922 | yes | 12.49 |
| E-MTAB-8410 | yes | 11.72 |
| E-GEOD-130148 | yes | 7.04 |
| E-MTAB-6678 | no | 3.20 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, FOS
miRNA regulators (miRDB)
233 targeting RAB11A, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 20.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 40)
- mutation impairs a specific subset of Rab11 interactions, possibly those involved in cytoskeleton-based movements driving the slow recycling pathway (PMID:14699104)
- Rab11a, RPL7, and RPL28 showed moderate levels of differential expression in esophageal squamous cell carcinoma (PMID:15188492)
- there is a pivotal role for rab11 in regulating the traffic of a G protein-coupled receptor at the level of the recycling endosome (PMID:15190120)
- an interaction between Rab11 and TPbeta directs TPbeta recycling (PMID:16126723)
- Data suggest that polarization of hepatocytes requires recruitment of rab11a and myosin Vb to intracellular membranes that contain apical ABC transporters and transcytotic markers. (PMID:16214890)
- We conclude that the glutamine residue of Rab11a at position 70 is not strictly essential for GTPase activity of this protein in contrast to Ras and other Rab proteins. (PMID:16473307)
- Results describe the distinct C-terminal binding regions of FIP3 and FIP4 for Rab11 and ARF5/ARF6, and the crystal structure of Rab11 in complex with the Rab11-binding domain (RBD) of FIP3. (PMID:17030804)
- Rab 11 and Arf6 function synergistically in the switch from furrowing to abscission, as well as in the terminal stage of abscission (PMID:17157409)
- CaR is constitutively endocytosed and recycled to the plasma membrane by a Rab11a-dependent mechanism. (PMID:17426287)
- myosin Vb is required for CFTR recycling in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells (PMID:17462998)
- Rab11 plays a role in the intracellular trafficking of various types of LG-molecule from the TGN to the cell surface (PMID:17476295)
- These results show that Rab11A and Langerin are required for BG biogenesis, and they illustrate the role played by a Rab GTPase in the formation of a specialized subcompartment within the endocytic-recycling system. (PMID:17538027)
- These data therefore show that (i) Rab11a regulates cell surface abundance of both GLUT4 and FAT/CD36. (PMID:17854769)
- Both phosphorylated and nonphosphorylated MOR internalize via Rab5-dependent pathway after agonist stimulation, and the phosphorylated and nonphosphorylated MORs recycle through distinct vesicular trafficking pathways mediated by Rab4 and Rab11. (PMID:18550774)
- endosomal activation of the PI3K/AKT signaling pathway in response to Gbetagamma trafficking, via its interaction with Rab11, is a relevant step in the mechanism controlling cell survival and proliferation (PMID:18701709)
- Rab11a was expressed in umbrella cells (but not Rab11b or Rab25) and was associated with discoidal/fusiform vesicles, which were dependent on the activity of the Rab11a GTPase for exocytosis. (PMID:18843107)
- Both rab11a and HSP90 appear to be involved in the process of exocytosis of internalized extracellular alpha-synuclein. (PMID:19193894)
- Recycling endosome trafficking to the Golgi complex through a pathway involving Src-family kinases, Cdc42, and Rab11a plays a general role in death signaling by mediating regulated changes in Golgi dynamics. (PMID:19641023)
- A novel mechanism for cellular dysfunction by the HD mutation arising from the inhibition of Rab11 activity and a deficit in vesicle formation at recycling endosomes, is proposed. (PMID:19752198)
- D-AKAP2 promotes accumulation of recycling proteins in the Rab4/Rab11-positive endocytic recycling compartment (PMID:19797056)
- Mutant prion protein expression is associated with an alteration of the Rab GDP dissociation inhibitor alpha (GDI)/Rab11 pathway. (PMID:19996123)
- Rab11a, FIP3 and DLIC-1 form a ternary complex and DLIC-1 colocalises with endogenous FIP3 and Rab11a in A431 cells. (PMID:20026645)
- Rab11, in its GTP-bound form, interacts with Rabin8 and kinetically stimulates the guanine nucleotide-exchange activity of Rabin8 toward Rab8. (PMID:20308558)
- Results describe the involvement of two Rab GTPases, Rab9 and Rab11, in the trafficking of TRPC6. (PMID:20346379)
- Transmission electron microscopy of thin sections confirmed that Rab11 depletion resulted in significant numbers of abnormally formed virus particles that had failed to pinch off from the plasma membrane. (PMID:20357086)
- Rab11a played a prominent role in recycling of the wild type ss1-adrenergic receptors because dominant negative rab11a inhibited. (PMID:20727405)
- Rab11a is an important regulator of TLR4 and Toll-receptor-associated molecule transport to E. coli phagosomes thereby controlling IRF3 activation from this compartment. (PMID:20933442)
- Rabin8 and Rab11 are associated with the Bardet-Biedl syndrome. (PMID:21273506)
- Rab11a, but not Rab8a, is required for recycling of transferrin in nonpolarized cells. (PMID:21282656)
- The authors propose that influenza virus ribonucleoproteins are routed from the nucleus to the pericentriolar recycling endosome (RE), where they access a Rab11-dependent vesicular transport pathway to the cell periphery. (PMID:21307188)
- Our results uncover a critical host factor with an essential contribution to influenza virus genome delivery and reveal a potential role for RAB11A in the transport of ribonucleoprotein cargo. (PMID:21525351)
- Recycling was accompanied by dephosphorylation of VEGFR-2 between Rab4 and Rab11 vesicles and quantitatively and qualitatively altered signal output. (PMID:21586748)
- Our data suggest a selective role of PICK1 in clustering and reducing the recycling rates of PDZ domain binding partners sorted to the Rab11-dependent recycling pathway. (PMID:22303009)
- Rab11A/myosin Vb/Rab11-FIP2 complex frames two late recycling steps of langerin from the ERC to the plasma membrane (PMID:22420646)
- miR-141/YWHAG and miR-520e/RAB11A are two potential miRNA/protein target pairs associated with severe obesity. (PMID:22537031)
- TBC1D14 binds activated Rab11 but is not a GAP for Rab11, and loss of Rab11 prevents TBC1D14-induced tubulation of recycling endosomes. (PMID:22613832)
- Rab11 depletion gives rise to accumulation of recycling carriers containing endocytosed transferrin and transferrin receptor beneath the plasma membrane. (PMID:22685325)
- findings show 2 mother centriole appendage proteins, centriolin and cenexin/ODF2, regulate association of the endosome components Rab11, the Evi5, and the exocyst at the mother centriole (PMID:22981775)
- The potential roles of the Rab11 pathway in the trafficking, assembly and budding steps of negative-strand viruses. (PMID:23176490)
- These findings suggest that Rab11-FIP1 proteins participate in spatially and temporally distinct steps of the recycling process along a complex and dynamic tubular network in which Rab11-FIPs occupy discrete domains. (PMID:23283983)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rab11a | ENSDARG00000041450 |
| mus_musculus | Rab11a | ENSMUSG00000004771 |
| rattus_norvegicus | Rab11a | ENSRNOG00000011302 |
| drosophila_melanogaster | Rab11 | FBGN0015790 |
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), 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), RAB41 (ENSG00000147127)
Protein
Protein identifiers
Ras-related protein Rab-11A — P62491 (reviewed: P62491)
Alternative names: YL8
All UniProt accessions (5): P62491, B4DQU5, H3BMH2, H3BN38, H3BSC1
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. RAB11A regulates endocytic recycling. Forms a functional Rab11/RAB11FIP3/dynein complex that regulates the movement of peripheral sorting endosomes (SE) along microtubule tracks toward the microtubule organizing center/centrosome, generating the endosomal recycling compartment (ERC). Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial cell polarization. Together with Rabin8/RAB3IP, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis. Together with MYO5B participates in CFTR trafficking to the plasma membrane and TF (Transferrin) recycling in nonpolarized cells. Required in a complex with MYO5B and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Participates in the sorting and basolateral transport of CDH1 from the Golgi apparatus to the plasma membrane. Regulates the recycling of FCGRT (receptor of Fc region of monomeric IgG) to basolateral membranes. May also play a role in melanosome transport and release from melanocytes. Promotes Rabin8/RAB3IP preciliary vesicular trafficking to mother centriole by forming a ciliary targeting complex containing Rab11, ASAP1, Rabin8/RAB3IP, RAB11FIP3 and ARF4, thereby regulating ciliogenesis initiation. On the contrary, upon LPAR1 receptor signaling pathway activation, interaction with phosphorylated WDR44 prevents Rab11-RAB3IP-RAB11FIP3 complex formation and cilia growth. Participates in the export of a subset of neosynthesized proteins through a Rab8-Rab10-Rab11-endososomal dependent export route via interaction with WDR44. Also interacts with RABL3 to promote ciliary vesicle formation.
Subunit / interactions. Interacts (GTP-bound form) with RAB11FIPs (via their C-termini) including RAB11FIP1, RAB11FIP2, RAB11FIP3, RAB11FIP4 and RAB11FIP5 effectors. Interacts with RAB11FIP5 and STXBP6. Interacts with SGSM1, SGSM2 and SGSM3. Interacts with EXOC6 in a GTP-dependent manner. Forms a complex with RAB11FIP3 and dynein intermediate chain DYNC1LI1; the interaction between RAB11A1 and RAB11FIP3 is direct; the complex regulates endocytic trafficking. Interacts with EVI5; EVI5 and RAB11FIP3 may be mutually exclusive and compete for binding RAB11A. Interacts with STXBP6. Interacts with VIPAS39. Interacts with MYO5B. Found in a complex with MYO5B and CFTR. Interacts with NPC1L1. Interacts (GDP-bound form) with ZFYVE27. Interacts with BIRC6/bruce. May interact with TBC1D14. Interacts with UNC119; in a cell cycle-dependent manner. GDP-bound and nucleotide-free forms interact with SH3BP5. Interacts (GDP-bound form) with KIF5A in a ZFYVE27-dependent manner. Interacts (GDP-bound form) with RELCH. Found in a complex composed of RELCH, OSBP1 and RAB11A. Interacts with TBC1D12. Interacts with DEF6. Interacts with VPS33B. Interacts with ATP9A. Forms a heterotetramer with RAB11FIP3; the GTP-bound form is preferred for binding. Forms a complex with Rabin8/RAB3IP and RAB11FIP3, probably a heterohexamer with two of each protein subunit, where Rabin8/RAB3IP and RAB11FIP3 simultaneously bind to RAB11A; the complex promotes preciliary trafficking and cilia growth. Forms a complex containing RAB11A, ASAP1, Rabin8/RAB3IP, RAP11FIP3 and ARF4; the complex promotes preciliary trafficking; the complex binds to RHO in photoreceptor cells and promotes RHO ciliary transport. Interacts (GTP-bound form) with WDR44; the interaction prevents RAB11A-RAB3IP-RAB11FIP3 complex formation. Interacts with SH3TC2. Interacts (GTP-bound) with RABL3 (GDP-bound); the interaction stabilizes RABL3 and regulates ciliary vesicle formation during early ciliogenesis.
Subcellular location. Cell membrane. Endosome membrane. Recycling endosome membrane. Cleavage furrow. Cytoplasmic vesicle. Phagosome membrane. Golgi apparatus membrane. Golgi apparatus. trans-Golgi network. Cytoplasmic vesicle membrane. Cell projection. Cilium.
Post-translational modifications. (Microbial infection) Glycosylated on arginine residues by S.typhimurium protein Ssek3.
Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) including SH3BP5, which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs) which prevent Rab-GDP dissociation.
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.
Similarity. Belongs to the small GTPase superfamily. Rab family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P62491-1 | 1 | yes |
| P62491-2 | 2 |
RefSeq proteins (2): NP_001193765, NP_004654* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR050209 | Rab_GTPases_membrane_traffic | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (65 total): binding site 21, mutagenesis site 14, strand 8, helix 8, region of interest 3, modified residue 2, lipid moiety-binding region 2, turn 2, initiator methionine 1, chain 1, propeptide 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
30 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1OIX | X-RAY DIFFRACTION | 1.7 |
| 2D7C | X-RAY DIFFRACTION | 1.75 |
| 2HV8 | X-RAY DIFFRACTION | 1.86 |
| 1OIV | X-RAY DIFFRACTION | 1.98 |
| 1YZK | X-RAY DIFFRACTION | 2 |
| 4C4P | X-RAY DIFFRACTION | 2 |
| 1OIW | X-RAY DIFFRACTION | 2.05 |
| 5JCZ | X-RAY DIFFRACTION | 2.06 |
| 6IY1 | X-RAY DIFFRACTION | 2.11 |
| 4LX0 | X-RAY DIFFRACTION | 2.19 |
| 5EZ5 | X-RAY DIFFRACTION | 2.4 |
| 2GZD | X-RAY DIFFRACTION | 2.44 |
| 2GZH | X-RAY DIFFRACTION | 2.47 |
| 4LWZ | X-RAY DIFFRACTION | 2.55 |
| 4UJ5 | X-RAY DIFFRACTION | 2.6 |
| 5C46 | X-RAY DIFFRACTION | 2.65 |
| 4D0L | X-RAY DIFFRACTION | 2.94 |
| 4UJ3 | X-RAY DIFFRACTION | 3 |
| 8VOF | X-RAY DIFFRACTION | 3 |
| 6DJL | X-RAY DIFFRACTION | 3.1 |
| 5C4G | X-RAY DIFFRACTION | 3.2 |
| 5EUQ | X-RAY DIFFRACTION | 3.2 |
| 5FBR | X-RAY DIFFRACTION | 3.28 |
| 5FBV | X-RAY DIFFRACTION | 3.29 |
| 5FBL | X-RAY DIFFRACTION | 3.37 |
| 5FBW | X-RAY DIFFRACTION | 3.49 |
| 5FBQ | X-RAY DIFFRACTION | 3.79 |
| 6IXV | X-RAY DIFFRACTION | 3.8 |
| 4UJ4 | X-RAY DIFFRACTION | 4.2 |
| 4D0M | X-RAY DIFFRACTION | 6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P62491-F1 | 87.43 | 0.69 |
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 (21): 24; 25; 25; 26; 37; 38; 40; 42; 43; 43; 66; 69 …
Post-translational modifications (4): 2, 213, 212, 213
Glycosylation sites (1): 4
Mutagenesis-validated functional residues (14):
| Position | Phenotype |
|---|---|
| 13 | abolishes sh3bp5-mediated guanine nucleotide exchange. |
| 22 | impairs protein folding. |
| 24 | impairs protein folding and decreases affinity for guanine nucleotides. |
| 25 | dominant-negative mutant (gdp-bound form). induces increased number of binucleated cells, indicating defects in cytokine |
| 36 | nearly abolishes sh3bp5-mediated guanine nucleotide exchange. |
| 38 | decreases sh3bp5-mediated guanine nucleotide exchange. |
| 38 | nearly abolishes sh3bp5-mediated guanine nucleotide exchange. |
| 40 | nearly abolishes sh3bp5-mediated guanine nucleotide exchange. |
| 41 | mildly decreases sh3bp5-mediated guanine nucleotide exchange. |
| 41 | abolishes sh3bp5-mediated guanine nucleotide exchange. |
| 44 | abolishes sh3bp5-mediated guanine nucleotide exchange. |
| 70 | constitutively active mutant (gtp-bound form). decreases gtpase activity. disrupts the trafficking of cdh1 to the plasma |
| 82 | decreases sh3bp5-mediated guanine nucleotide exchange. |
| 154 | impairs protein folding. |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-1445148 | Translocation of SLC2A4 (GLUT4) to the plasma membrane |
| R-HSA-432040 | Vasopressin regulates renal water homeostasis via Aquaporins |
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-5620916 | VxPx cargo-targeting to cilium |
| R-HSA-8854214 | TBC/RABGAPs |
| R-HSA-8873719 | RAB geranylgeranylation |
MSigDB gene sets: 546 (showing top):
GOBP_MITOTIC_CYTOKINESIS, RNGTGGGC_UNKNOWN, GOBP_CHROMOSOME_ORGANIZATION, MODULE_52, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOBP_PIGMENT_GRANULE_LOCALIZATION, GOBP_ENDOSOME_ORGANIZATION, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY, GOBP_VESICLE_ORGANIZATION, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_CHROMOSOME_LOCALIZATION, GOBP_CELL_CYCLE_PHASE_TRANSITION
GO Biological Process (42): exocytosis (GO:0006887), mitotic metaphase chromosome alignment (GO:0007080), positive regulation of epithelial cell migration (GO:0010634), positive regulation of G2/M transition of mitotic cell cycle (GO:0010971), vesicle-mediated transport (GO:0016192), astral microtubule organization (GO:0030953), neuron projection development (GO:0031175), melanosome transport (GO:0032402), regulation of cytokinesis (GO:0032465), protein localization to cell surface (GO:0034394), multivesicular body assembly (GO:0036258), Golgi to plasma membrane protein transport (GO:0043001), regulation of long-term neuronal synaptic plasticity (GO:0048169), plasma membrane to endosome transport (GO:0048227), regulation of protein transport (GO:0051223), establishment of vesicle localization (GO:0051650), regulation of vesicle-mediated transport (GO:0060627), obsolete early endosome to recycling endosome transport (GO:0061502), protein localization to cilium (GO:0061512), protein transmembrane transport (GO:0071806), establishment of protein localization to organelle (GO:0072594), protein localization to plasma membrane (GO:0072659), establishment of protein localization to membrane (GO:0090150), mitotic spindle assembly (GO:0090307), neurotransmitter receptor transport, endosome to postsynaptic membrane (GO:0098887), vesicle-mediated transport in synapse (GO:0099003), synaptic vesicle endosomal processing (GO:0099532), amyloid-beta clearance by transcytosis (GO:0150093), regulation of cilium assembly (GO:1902017), obsolete regulation of early endosome to recycling endosome transport (GO:1902954), positive regulation of protein localization to plasma membrane (GO:1903078), positive regulation of mitotic cytokinetic process (GO:1903438), regulation of protein localization to centrosome (GO:1904779), exosomal secretion (GO:1990182), regulation of endocytic recycling (GO:2001135), mitotic cytokinesis (GO:0000281), obsolete vesicle docking involved in exocytosis (GO:0006904), microtubule-based movement (GO:0007018), protein transport (GO:0015031), positive regulation of cilium assembly (GO:0045724)
GO Molecular Function (10): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), microtubule binding (GO:0008017), syntaxin binding (GO:0019905), myosin V binding (GO:0031489), dynein light intermediate chain binding (GO:0051959), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (33): Golgi membrane (GO:0000139), spindle pole (GO:0000922), multivesicular body (GO:0005771), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), transport vesicle (GO:0030133), cytoplasmic vesicle membrane (GO:0030659), endocytic vesicle membrane (GO:0030666), synaptic vesicle membrane (GO:0030672), cytoplasmic vesicle (GO:0031410), vesicle (GO:0031982), cleavage furrow (GO:0032154), trans-Golgi network membrane (GO:0032588), protein-containing complex (GO:0032991), phagocytic vesicle (GO:0045335), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), Schaffer collateral - CA1 synapse (GO:0098685), presynaptic endosome (GO:0098830), postsynaptic recycling endosome (GO:0098837), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), endosome (GO:0005768), kinetochore microtubule (GO:0005828), plasma membrane (GO:0005886), endosome membrane (GO:0010008), endomembrane system (GO:0012505), membrane (GO:0016020), pseudopodium membrane (GO:0031260)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Membrane Trafficking | 1 |
| Aquaporin-mediated transport | 1 |
| Assembly of the 9+0 primary cilium | 1 |
| Cargo trafficking to the periciliary membrane | 1 |
| Rab regulation of trafficking | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| vesicle-mediated transport | 3 |
| protein transport | 3 |
| cytoplasm | 3 |
| regulation of transport | 2 |
| bounding membrane of organelle | 2 |
| cellular anatomical structure | 2 |
| endomembrane system | 2 |
| microtubule organizing center | 2 |
| cytoplasmic vesicle | 2 |
| endocytic vesicle | 2 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| mitotic sister chromatid segregation | 1 |
| mitotic cell cycle | 1 |
| metaphase chromosome alignment | 1 |
| mitotic cell cycle process | 1 |
| epithelial cell migration | 1 |
| regulation of epithelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| G2/M transition of mitotic cell cycle | 1 |
| regulation of G2/M transition of mitotic cell cycle | 1 |
| positive regulation of mitotic cell cycle phase transition | 1 |
| positive regulation of cell cycle G2/M phase transition | 1 |
| transport | 1 |
| cellular process | 1 |
| spindle organization | 1 |
| cytoplasmic microtubule organization | 1 |
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| melanosome localization | 1 |
| establishment of melanosome localization | 1 |
| pigment granule transport | 1 |
| cytokinesis | 1 |
| regulation of cell cycle process | 1 |
| regulation of cell division | 1 |
| intracellular protein localization | 1 |
| multivesicular body organization | 1 |
| organelle assembly | 1 |
| Golgi to plasma membrane transport | 1 |
| establishment of protein localization to plasma membrane | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
167 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAB11FIP2 | RAB11A | psi-mi:“MI:0407”(direct interaction) | 0.960 |
| RAB11A | RAB11FIP2 | psi-mi:“MI:2364”(proximity) | 0.960 |
| RAB11A | RAB11FIP2 | psi-mi:“MI:0915”(physical association) | 0.960 |
| RAB11FIP2 | RAB11A | psi-mi:“MI:0915”(physical association) | 0.960 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| RAB11FIP3 | RAB11A | psi-mi:“MI:0915”(physical association) | 0.860 |
| RAB11A | RAB11FIP3 | psi-mi:“MI:0915”(physical association) | 0.860 |
| RAB11A | RAB11FIP3 | psi-mi:“MI:0407”(direct interaction) | 0.860 |
| RAB11A | RAB11FIP3 | psi-mi:“MI:0914”(association) | 0.860 |
| RAB11FIP3 | RAB11A | psi-mi:“MI:0914”(association) | 0.860 |
| RAB11FIP3 | RAB11A | psi-mi:“MI:0407”(direct interaction) | 0.860 |
| RAB11A | RAB11FIP5 | psi-mi:“MI:0915”(physical association) | 0.840 |
| RAB11A | EVI5 | psi-mi:“MI:0914”(association) | 0.800 |
| EVI5 | RAB11A | psi-mi:“MI:0915”(physical association) | 0.800 |
BioGRID (1210): RAB11FIP2 (Reconstituted Complex), RAB11A (Affinity Capture-Western), RAB11A (Two-hybrid), ARHGDIA (Co-fractionation), NUTF2 (Co-fractionation), RAB11A (Co-fractionation), RAB11A (Co-fractionation), RAB11A (Co-fractionation), RAB11A (Co-fractionation), RAB5A (Co-fractionation), RAB5B (Co-fractionation), RAB5C (Co-fractionation), RAB7A (Co-fractionation), RAB11A (Affinity Capture-MS), RAB11A (Reconstituted Complex)
ESM2 similar proteins: E2RQ15, O01803, O04486, O23561, O35509, P17610, P19892, P22129, P25766, P28185, P28187, P36412, P46638, P62490, P62491, P62492, P62493, P62494, Q01111, Q15907, Q1PEX3, Q2TA29, Q39222, Q39434, Q39572, Q3MHP2, Q40191, Q40193, Q40195, Q40520, Q40522, Q40523, Q40723, Q52NJ1, Q58DW6, Q5R9M7, Q5ZJN2, Q96283, Q9FE79, Q9FGK5
Diamond homologs: A5D7F5, A8HN58, E2RQ15, M0RC99, O01803, O04486, O14966, O35509, O35963, O49513, O80501, P01123, P17608, P18066, P19892, P20339, P22129, P25766, P28185, P29687, P31583, P34143, P35278, P36862, P40393, P46629, P46638, P51146, P51147, P51148, P57735, P61017, P61018, P61020, P61021, P61271, P62490, P62491, P62492, P62493
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCA | unknown | RAB11A | phosphorylation |
| PRKCB | unknown | RAB11A | phosphorylation |
| PRKCE | unknown | RAB11A | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 117 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 |
|---|---|---|---|
| MyD88 cascade initiated on plasma membrane | 5 | 12.6× | 6e-03 |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation | 5 | 11.8× | 6e-03 |
| MyD88 dependent cascade initiated on endosome | 5 | 11.8× | 6e-03 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 9 | 10.8× | 4e-05 |
| Extra-nuclear estrogen signaling | 5 | 10.5× | 8e-03 |
| PIP3 activates AKT signaling | 11 | 9.1× | 2e-05 |
| Clathrin-mediated endocytosis | 7 | 7.4× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| memory | 5 | 9.2× | 1e-02 |
| endocytosis | 8 | 7.7× | 2e-03 |
| neuron projection development | 6 | 7.4× | 9e-03 |
| vesicle-mediated transport | 7 | 6.8× | 6e-03 |
| protein transport | 11 | 4.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
130 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 50 |
| Likely benign | 58 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2430281 | NM_004663.5(RAB11A):c.335A>G (p.His112Arg) | Likely pathogenic |
SpliceAI
2759 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:65729245:CATCT:C | acceptor_gain | 1.0000 |
| 15:65729249:T:TC | acceptor_gain | 1.0000 |
| 15:65729525:GATAC:G | donor_loss | 1.0000 |
| 15:65729526:ATAC:A | donor_loss | 1.0000 |
| 15:65729527:TACT:T | donor_loss | 1.0000 |
| 15:65729528:AC:A | donor_loss | 1.0000 |
| 15:65729529:CTCAC:C | donor_loss | 1.0000 |
| 15:65729530:TC:T | donor_loss | 1.0000 |
| 15:65729531:CACA:C | donor_loss | 1.0000 |
| 15:65729532:A:AC | donor_gain | 1.0000 |
| 15:65729532:A:C | donor_loss | 1.0000 |
| 15:65729533:C:CA | donor_gain | 1.0000 |
| 15:65729533:CA:C | donor_gain | 1.0000 |
| 15:65729533:CAG:C | donor_gain | 1.0000 |
| 15:65729533:CAGA:C | donor_gain | 1.0000 |
| 15:65729676:CCA:C | acceptor_gain | 1.0000 |
| 15:65729677:CA:C | acceptor_gain | 1.0000 |
| 15:65729677:CAC:C | acceptor_gain | 1.0000 |
| 15:65729679:C:CC | acceptor_gain | 1.0000 |
| 15:65729688:C:CT | acceptor_gain | 1.0000 |
| 15:65731701:C:CC | acceptor_gain | 1.0000 |
| 15:65731713:T:C | acceptor_gain | 1.0000 |
| 15:65731713:T:TC | acceptor_gain | 1.0000 |
| 15:65732820:T:C | acceptor_gain | 1.0000 |
| 15:65737705:A:AC | donor_gain | 1.0000 |
| 15:65737706:C:CC | donor_gain | 1.0000 |
| 15:65737768:T:TA | donor_gain | 1.0000 |
| 15:65737849:T:TA | donor_gain | 1.0000 |
| 15:65737850:C:A | donor_gain | 1.0000 |
| 15:65738871:TAGGC:T | acceptor_gain | 1.0000 |
AlphaMissense
1414 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:65877338:T:C | L16P | 1.000 |
| 15:65877343:G:A | G18R | 1.000 |
| 15:65877343:G:C | G18R | 1.000 |
| 15:65877344:G:A | G18E | 1.000 |
| 15:65877344:G:T | G18V | 1.000 |
| 15:65877358:G:A | G23R | 1.000 |
| 15:65877358:G:C | G23R | 1.000 |
| 15:65877359:G:A | G23E | 1.000 |
| 15:65877359:G:T | G23V | 1.000 |
| 15:65877361:A:C | K24Q | 1.000 |
| 15:65877362:A:T | K24M | 1.000 |
| 15:65877363:G:C | K24N | 1.000 |
| 15:65877363:G:T | K24N | 1.000 |
| 15:65877365:G:T | S25I | 1.000 |
| 15:65877371:T:C | L27P | 1.000 |
| 15:65877374:T:C | L28P | 1.000 |
| 15:65877380:G:C | R30P | 1.000 |
| 15:65877397:T:C | F36L | 1.000 |
| 15:65877398:T:C | F36S | 1.000 |
| 15:65877399:T:A | F36L | 1.000 |
| 15:65877399:T:G | F36L | 1.000 |
| 15:65877419:C:T | T43I | 1.000 |
| 15:65877422:T:A | I44N | 1.000 |
| 15:65877424:G:A | G45R | 1.000 |
| 15:65877424:G:C | G45R | 1.000 |
| 15:65877425:G:A | G45E | 1.000 |
| 15:65877433:T:C | F48L | 1.000 |
| 15:65877434:T:C | F48S | 1.000 |
| 15:65877434:T:G | F48C | 1.000 |
| 15:65877435:T:A | F48L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000100561 (15:65870114 C>A,G,T), RS1000132479 (15:65889407 T>C), RS1000171212 (15:65892461 C>T), RS1000173967 (15:65889884 G>A), RS1000394359 (15:65885054 C>T), RS1000536367 (15:65870349 C>T), RS1000731899 (15:65886616 A>G), RS1000793826 (15:65882842 C>A), RS1000869190 (15:65874546 G>A), RS1000905158 (15:65878409 C>T), RS1000952111 (15:65878160 A>G), RS1001136329 (15:65871934 T>G), RS1001175305 (15:65891619 C>T), RS1001398117 (15:65884452 G>T), RS1001430362 (15:65869333 G>A)
Disease associations
OMIM: gene MIM:605570 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal dominant |
| autosomal dominant non-syndromic intellectual disability | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder with motor features | Moderate | AD |
Mondo (3): precocious puberty in female (MONDO:0018561), neurodevelopmental disorder (MONDO:0700092), autosomal dominant non-syndromic intellectual disability (MONDO:0015802)
Orphanet (1): Rare precocious puberty in female (Orphanet:435561)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0010465 | Precocious puberty in females |
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004601_176 | Red blood cell count | 5.000000e-17 |
| GCST004602_212 | Mean corpuscular volume | 3.000000e-49 |
| GCST004602_213 | Mean corpuscular volume | 1.000000e-52 |
| GCST004615_100 | Hemoglobin concentration | 5.000000e-09 |
| GCST004630_161 | Mean corpuscular hemoglobin | 8.000000e-18 |
| GCST004630_162 | Mean corpuscular hemoglobin | 8.000000e-76 |
| GCST005992_19 | Mean corpuscular hemoglobin concentration | 8.000000e-11 |
| GCST005993_11 | Mean corpuscular hemoglobin | 4.000000e-28 |
| GCST006011_43 | Mean corpuscular volume | 3.000000e-21 |
| GCST90002384_385 | Hemoglobin | 1.000000e-12 |
| GCST90002390_417 | Mean corpuscular hemoglobin | 1.000000e-36 |
| GCST90002392_430 | Mean corpuscular volume | 1.000000e-28 |
| GCST90002393_607 | Monocyte count | 3.000000e-18 |
| GCST90002397_261 | Mean spheric corpuscular volume | 7.000000e-12 |
| GCST90002398_285 | Neutrophil count | 4.000000e-16 |
| GCST90002399_366 | Neutrophil percentage of white cells | 5.000000e-17 |
| GCST90002405_339 | Reticulocyte count | 1.000000e-10 |
| GCST90002406_388 | Reticulocyte fraction of red cells | 1.000000e-20 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0005091 | monocyte count |
| EFO:0004833 | neutrophil count |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0007986 | reticulocyte count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5291509 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | increases abundance, decreases expression | 1 |
| ochratoxin A | affects binding | 1 |
| ochratoxin B | affects binding | 1 |
| ICG 001 | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | increases expression | 1 |
| Fluorouracil | decreases expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression | 1 |
| Gold | decreases expression | 1 |
| Melitten | affects cotreatment, decreases localization | 1 |
| Sodium Chloride | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Zinc | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5223841 | Binding | Inhibition of Rab11A in human HeLa cells assessed as inhibition of Rab11A prenylation | Targeting Small GTPases and Their Prenylation in Diabetes Mellitus. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7Z3 | Ubigene A-549 RAB11A KO | Cancer cell line | Male |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder, autosomal dominant non-syndromic intellectual disability, complex neurodevelopmental disorder with motor features
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant non-syndromic intellectual disability, precocious puberty in female