The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathwa... See more...

Aliases for RAB11B Gene

Aliases for RAB11B Gene

  • RAB11B, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-11B 3 4
  • GTP-Binding Protein YPT3 3 4
  • RAB11B, Member Of RAS Oncogene Family 3
  • NDAGSCW 3
  • H-YPT3 3
  • YPT3 4

External Ids for RAB11B Gene

Previous GeneCards Identifiers for RAB11B Gene

  • GC19P008396
  • GC19P008546
  • GC19P008350
  • GC19P008361
  • GC19P008455
  • GC19P008108

Summaries for RAB11B Gene

Entrez Gene Summary for RAB11B Gene

  • The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010]

GeneCards Summary for RAB11B Gene

RAB11B (RAB11B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB11B include Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter and Rectum Adenocarcinoma. Among its related pathways are Vesicle-mediated transport and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB11A.

UniProtKB/Swiss-Prot Summary for RAB11B Gene

  • 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. The small Rab GTPase RAB11B plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epithelial sodium channel/ENaC, potassium voltage-gated channel, and voltage-dependent L-type calcium channel. May also regulate constitutive and regulated secretion, like insulin granule exocytosis. Required for melanosome transport and release from melanocytes. Also regulates V-ATPase intracellular transport in response to extracellular acidosis.

Gene Wiki entry for RAB11B Gene

Additional gene information for RAB11B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB11B Gene

Genomics for RAB11B Gene

GeneHancer (GH) Regulatory Elements for RAB11B Gene

Promoters and enhancers for RAB11B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J008388 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +2.9 2863 10.3 GTF3C2 ZNF24 SP1 ZBTB40 CTCF GATA3 ZBTB6 FOXA1 MLX RBPJ RAB11B HNRNPM ZNF699 XAB2 ELAVL1 ZNF317 ZNF558 MAP2K7 ZNF559 ZNF414
GH19J008361 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.3 -24.8 -24821 7.1 SIN3A ZNF24 ZBTB40 CTCF SMARCE1 POLR2A RBM39 RAD21 DACH1 ZNF121 ANGPTL4 lnc-RAB11B-3 HNRNPM ZNF317 XAB2 ZNF699 ZNF558 MAP2K7 ELAVL1 ZNF414
GH19J008354 Enhancer 1.2 ENCODE dbSUPER 12.7 -33.7 -33655 3.1 ZBTB40 LCORL MLX RBPJ SMARCE1 NR2F1 ATF1 NR2F6 CREB1 MIXL1 RAB11B ZNF559 MARCHF2 RPS28 lnc-KANK3-1 lnc-ANGPTL4-2 lnc-KANK3-3
GH19J008359 Enhancer 0.3 Ensembl 12.7 -30.7 -30680 0.2 PRDM10 RAB11B lnc-ANGPTL4-2 lnc-KANK3-1 lnc-KANK3-3
GH19J008566 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 1.2 +182.5 182547 11.3 ZNF24 SP1 ZBTB6 SMARCE1 RUNX1 MYC ETV6 ELF1 L3MBTL2 MAX MYO1F piR-57138-029 ZNF266 HNRNPM ZNF699 ZNF558 ZNF317 XAB2 ELAVL1 ZNF559
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB11B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB11B gene promoter:
  • AhR
  • AML1a
  • En-1
  • GR
  • GR-alpha
  • GR-beta
  • Olf-1
  • p300
  • p53
  • Pax-5

Genomic Locations for RAB11B Gene

Genomic Locations for RAB11B Gene
chr19:8,389,981-8,404,434
(GRCh38/hg38)
Size:
14,454 bases
Orientation:
Plus strand
chr19:8,454,865-8,469,318
(GRCh37/hg19)
Size:
14,454 bases
Orientation:
Plus strand

Genomic View for RAB11B Gene

Genes around RAB11B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB11B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB11B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB11B Gene

Proteins for RAB11B Gene

  • Protein details for RAB11B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15907-RB11B_HUMAN
    Recommended name:
    Ras-related protein Rab-11B
    Protein Accession:
    Q15907
    Secondary Accessions:
    • A5YM50
    • B2R7I4
    • B4DMK0
    • D6W671
    • Q2YDT2
    • Q5U0I1
    • Q6FHR0
    • Q6FI42
    • Q8NI07

    Protein attributes for RAB11B Gene

    Size:
    218 amino acids
    Molecular mass:
    24489 Da
    Quaternary structure:
    • Interacts with KCNMA1 (By similarity). Interacts with RAB11FIP1, RAB11FIP2, RAB11FIP3 and RAB11FIP4 (PubMed:11495908). May interact with TBC1D14 (PubMed:22613832). Interacts with ATP6V1E1 (PubMed:20717956). Interacts with PI4KB (PubMed:23572552). Interacts (GDP-bound form) with ZFYVE27. Interacts (GDP-bound form) with KIF5A in a ZFYVE27-dependent manner (PubMed:21976701). Interacts with RELCH (By similarity).

    Three dimensional structures from OCA and Proteopedia for RAB11B Gene

    Alternative splice isoforms for RAB11B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB11B Gene

Post-translational modifications for RAB11B Gene

Other Protein References for RAB11B Gene

No data available for DME Specific Peptides for RAB11B Gene

Domains & Families for RAB11B Gene

Gene Families for RAB11B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB11B Gene

Suggested Antigen Peptide Sequences for RAB11B Gene

GenScript: Design optimal peptide antigens:
  • RAB11B protein (A5YM50_HUMAN)
  • RAB11B protein (Q6FHR0_HUMAN)
  • RAB11B protein (Q6FI42_HUMAN)
  • GTP-binding protein YPT3 (RB11B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15907

UniProtKB/Swiss-Prot:

RB11B_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB11B: view

Function for RAB11B Gene

Molecular function for RAB11B Gene

UniProtKB/Swiss-Prot 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. The small Rab GTPase RAB11B plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epithelial sodium channel/ENaC, potassium voltage-gated channel, and voltage-dependent L-type calcium channel. May also regulate constitutive and regulated secretion, like insulin granule exocytosis. Required for melanosome transport and release from melanocytes. Also regulates V-ATPase intracellular transport in response to extracellular acidosis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by extracellular acidosis and down-regulated by alkalosis (at protein level).

Phenotypes From GWAS Catalog for RAB11B Gene

Gene Ontology (GO) - Molecular Function for RAB11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA,IBA 16545962
GO:0005515 protein binding IPI 20717956
GO:0005525 GTP binding IDA 16545962
GO:0019003 GDP binding IDA 16545962
GO:0031489 myosin V binding IPI 24006491
genes like me logo Genes that share ontologies with RAB11B: view
genes like me logo Genes that share phenotypes with RAB11B: view

Human Phenotype Ontology for RAB11B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for RAB11B Gene

miRTarBase miRNAs that target RAB11B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB11B Gene

Localization for RAB11B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB11B Gene

Recycling endosome membrane; Lipid-anchor; Cytoplasmic side. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Lipid-anchor; Cytoplasmic side. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. Note=Recruited to phagosomes containing S.aureus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB11B gene
Compartment Confidence
cytosol 5
endosome 4
cytoskeleton 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IBA 21873635
GO:0005829 cytosol TAS --
GO:0008021 synaptic vesicle ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB11B: view

Pathways & Interactions for RAB11B Gene

genes like me logo Genes that share pathways with RAB11B: view

Pathways by source for RAB11B Gene

2 Qiagen pathways for RAB11B Gene
  • Epithelial Tight Junctions
  • Remodeling of Adherens Junctions
1 Cell Signaling Technology pathway for RAB11B Gene

Gene Ontology (GO) - Biological Process for RAB11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling ISS --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006887 exocytosis IBA 21873635
GO:0015031 protein transport IEA --
GO:0032402 melanosome transport ISS --
genes like me logo Genes that share ontologies with RAB11B: view

No data available for SIGNOR curated interactions for RAB11B Gene

Drugs & Compounds for RAB11B Gene

No Compound Related Data Available

Transcripts for RAB11B Gene

mRNA/cDNA for RAB11B Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB11B Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b
SP1: - -
SP2: - - -
SP3: - - - - -
SP4:
SP5: - -
SP6: - -

Relevant External Links for RAB11B Gene

GeneLoc Exon Structure for
RAB11B
ECgene alternative splicing isoforms for
RAB11B

Expression for RAB11B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB11B Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB11B Gene



Protein tissue co-expression partners for RAB11B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB11B Gene:

RAB11B

SOURCE GeneReport for Unigene cluster for RAB11B Gene:

Hs.626404

Evidence on tissue expression from TISSUES for RAB11B Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Lung(3.9)
  • Intestine(3.2)
  • Eye(3.1)
  • Lymph node(2.8)
  • Kidney(2.4)
  • Liver(2)
genes like me logo Genes that share expression patterns with RAB11B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB11B Gene

Orthologs for RAB11B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB11B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB11A 33
  • 100 (a)
OneToOne
RAB11B 32
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 99 (a)
OneToMany
-- 33
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RAB11B 33 32
  • 94.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAB11B 33 32
  • 94.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rab11b 17 33 32
  • 91.44 (n)
rat
(Rattus norvegicus)
Mammalia Rab11b 32
  • 90.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB11B 33
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB11B 33 32
  • 83.18 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab11b.1 32
  • 79.51 (n)
Str.6859 32
African clawed frog
(Xenopus laevis)
Amphibia rab11b-prov 32
zebrafish
(Danio rerio)
Actinopterygii rab11ba 33
  • 96 (a)
OneToOne
LOC100536606 32
  • 84.25 (n)
wufb07g11 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10241 32
fruit fly
(Drosophila melanogaster)
Insecta Rab11 33 34
  • 85 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rab-11.1 33 34
  • 81 (a)
ManyToMany
rab-11.2 33
  • 68 (a)
ManyToMany
F11A5.3 34
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT31 33
  • 59 (a)
ManyToMany
YPT32 35 33 32
  • 57.37 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RAB11c 32
  • 63.09 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.335 32
soybean
(Glycine max)
eudicotyledons Gma.1450 32
rice
(Oryza sativa)
Liliopsida Os05g0105100 32
  • 67.91 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.9485 32
wheat
(Triticum aestivum)
Liliopsida Ta.8775 32
Species where no ortholog for RAB11B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAB11B Gene

ENSEMBL:
Gene Tree for RAB11B (if available)
TreeFam:
Gene Tree for RAB11B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB11B: view image

Paralogs for RAB11B Gene

genes like me logo Genes that share paralogs with RAB11B: view

Variants for RAB11B Gene

Sequence variations from dbSNP and Humsavar for RAB11B Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1555690779 likely-pathogenic, NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER, Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807] 8,399,886(+) G/A coding_sequence_variant, missense_variant
rs1555690804 likely-pathogenic, NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER, Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807] 8,400,024(+) G/A coding_sequence_variant, missense_variant
rs1000080334 -- 8,390,701(+) G/A intron_variant
rs1000346951 -- 8,389,922(+) A/T upstream_transcript_variant
rs1000392208 -- 8,403,734(+) G/A/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RAB11B Gene

Variant ID Type Subtype PubMed ID
dgv6257n54 CNV gain 21841781
esv28519 CNV loss 19812545
esv3643614 CNV gain 21293372
nsv578558 CNV loss 21841781

Variation tolerance for RAB11B Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB11B Gene

Human Gene Mutation Database (HGMD)
RAB11B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB11B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB11B Gene

Disorders for RAB11B Gene

MalaCards: The human disease database

(6) MalaCards diseases for RAB11B Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RB11B_HUMAN
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807]: An autosomal dominant neurodevelopmental disorder apparent in infancy and characterized by severe intellectual disability with absent speech, epilepsy, and hypotonia. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly can be present. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem. {ECO:0000269 PubMed:29106825}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAB11B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAB11B: view

No data available for Genatlas for RAB11B Gene

Publications for RAB11B Gene

  1. Molecular cloning of two small GTP-binding proteins from human skeletal muscle. (PMID: 7811277) Zhu AX … Flier JS (Biochemical and biophysical research communications 1994) 2 3 4 23 56
  2. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. (PMID: 29106825) Lamers IJC … Roepman R (American journal of human genetics 2017) 3 4 56
  3. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. (PMID: 23572552) Greninger AL … DeRisi JL (mBio 2013) 3 4 56
  4. TBC1D14 regulates autophagosome formation via Rab11- and ULK1-positive recycling endosomes. (PMID: 22613832) Longatti A … Tooze SA (The Journal of cell biology 2012) 3 4 56
  5. Rab11b and its effector Rip11 regulate the acidosis-induced traffic of V-ATPase in salivary ducts. (PMID: 20717956) Oehlke O … Roussa E (Journal of cellular physiology 2011) 3 4 56

Products for RAB11B Gene

Sources for RAB11B Gene