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. [provided by RefSeq, May 2011] See more...

Aliases for RAB11A Gene

Aliases for RAB11A Gene

  • RAB11A, Member RAS Oncogene Family 2 3 5
  • YL8 2 3 4
  • Ras-Related Protein Rab-11A 3 4
  • Rab-11 3 4
  • RAB 11A, Member Oncogene Family 3
  • RAB11A 5
  • RAB11 4

External Ids for RAB11A Gene

Previous GeneCards Identifiers for RAB11A Gene

  • GC15P061897
  • GC15P059260
  • GC15P063740
  • GC15P063877
  • GC15P063948
  • GC15P066161
  • GC15P042986
  • GC15P066018
  • GC15P065784
  • GC15P066280
  • GC15P069500
  • GC15P069608
  • GC15P069658
  • GC15P071832
  • GC15P066274
  • GC15P066340
  • GC15P066869
  • GC15P067397
  • GC15P067919
  • GC15P068411
  • GC15P068917
  • GC15P069390
  • GC15P072880
  • GC15P073961

Summaries for RAB11A Gene

Entrez Gene Summary for RAB11A Gene

  • 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. [provided by RefSeq, May 2011]

GeneCards Summary for RAB11A Gene

RAB11A (RAB11A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB11A include Autosomal Dominant Non-Syndromic Intellectual Disability and Charcot-Marie-Tooth Disease, Type 4C. Among its related pathways are Remodeling of Adherens Junctions and Aquaporin-mediated transport. Gene Ontology (GO) annotations related to this gene include GTP binding and microtubule binding. An important paralog of this gene is RAB11B.

UniProtKB/Swiss-Prot Summary for RAB11A 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 RAB11A regulates endocytic recycling. Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial cell polarization. Together with 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 Ig G) to basolateral membranes. May also play a role in melanosome transport and release from melanocytes.

Gene Wiki entry for RAB11A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB11A Gene

Genomics for RAB11A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB11A 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
GH15J065868 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 250.1 +144.5 144452 3.8 BCLAF1 SP1 NCOR1 ZNF207 ZNF600 MYC IKZF1 JUND ZNF580 ZNF592 TRQ-CTG1-4 piR-36378-002 RAB11A PDCD7 PARP16 MTFMT SLC24A1 ENSG00000260773 TIPIN DPP8
GH15J065722 Enhancer 0.3 ENCODE 250.7 -1.6 -1581 3.2 CEBPB CEBPG RAB11A SNORD13E DENND4A HACD3 MIR4511 SLC24A1
GH15J065831 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +107.2 107239 3.8 IKZF1 ZNF600 SSRP1 ZNF580 ZNF592 ATF2 KLF9 CEBPA ZNF10 ATF3 SLC24A1 INTS14 DENND4A PDCD7 ENSG00000260773 DPP8 PARP16 ENSG00000259924 RAB11A HACD3
GH15J065817 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +94.1 94140 4.8 SP1 NCOR1 IKZF1 ZNF592 BCL11A REST TRIM22 ZNF639 MBD2 TBP lnc-SLC24A1-6 DENND4A ZWILCH INTS14 PDCD7 SLC24A1 ENSG00000260773 TIPIN MTFMT RAB11A
GH15J065823 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 11.1 +98.2 98208 1.1 MYC IKZF1 ZNF592 REST TRIM22 ZNF341 HOMEZ CTCF ZNF511 SAP130 PDCD7 DENND4A RAB11A ENSG00000260773 SNORD13E lnc-SLC24A1-6 MN297303 LOC105370866 lnc-SLC24A1-1 MEGF11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB11A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB11A

Top Transcription factor binding sites by QIAGEN in the RAB11A gene promoter:
  • C/EBPalpha
  • En-1
  • GATA-1
  • Lmo2
  • NRF-2
  • Roaz
  • S8
  • Sox5
  • SRF
  • SRF (504 AA)

Genomic Locations for RAB11A Gene

Latest Assembly
chr15:65,726,054-65,891,989
(GRCh38/hg38)
Size:
165,936 bases
Orientation:
Plus strand

Previous Assembly
chr15:66,161,829-66,184,327
(GRCh37/hg19 by Entrez Gene)
Size:
22,499 bases
Orientation:
Plus strand

chr15:66,018,392-66,184,329
(GRCh37/hg19 by Ensembl)
Size:
165,938 bases
Orientation:
Plus strand

Genomic View for RAB11A Gene

Genes around RAB11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB11A Gene

Proteins for RAB11A Gene

  • Protein details for RAB11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62491-RB11A_HUMAN
    Recommended name:
    Ras-related protein Rab-11A
    Protein Accession:
    P62491
    Secondary Accessions:
    • B2R4B6
    • B4DT13
    • P24410
    • Q5TZN9
    • Q9JLX1

    Protein attributes for RAB11A Gene

    Size:
    216 amino acids
    Molecular mass:
    24394 Da
    Quaternary structure:
    • Interacts with RIP11 and STXBP6. Interacts with SGSM1, SGSM2 and SGSM3 (By similarity). Interacts with EXOC6 in a GTP-dependent manner (By similarity). Interacts with RAB11FIP1, RAB11FIP2, RAB11FIP3 (via its C-terminus) and RAB11FIP4. Interacts with EVI5; EVI5 and RAB11FIP3 may be mutually exclusive and compete for binding RAB11A. Interacts with VIPAS39. Interacts with MYO5B. Found in a complex with MYO5B and CFTR. Interacts with NPC1L1. Interacts (GDP-bound form) with ZFYVE27 (PubMed:21976701, PubMed:17082457). 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 (PubMed:26506309, PubMed:30217979). Interacts (GDP-bound form) with KIF5A in a ZFYVE27-dependent manner (PubMed:21976701). Interacts (GDP-bound form) with RELCH (By similarity). Found in a complex composed of RELCH, OSBP1 and RAB11A (By similarity). Interacts with TBC1D12 (PubMed:28384198).

    Three dimensional structures from OCA and Proteopedia for RAB11A Gene

    Alternative splice isoforms for RAB11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB11A Gene

Post-translational modifications for RAB11A Gene

  • Ubiquitination at Lys179 and Lys207
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB11A Gene

No data available for DME Specific Peptides for RAB11A Gene

Domains & Families for RAB11A Gene

Gene Families for RAB11A Gene

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

Protein Domains for RAB11A Gene

InterPro:
Blocks:
  • GTP-binding nuclear protein Ran
  • Ras small GTPase, Ras type
  • Ras small GTPase, Rho type

Suggested Antigen Peptide Sequences for RAB11A Gene

GenScript: Design optimal peptide antigens:
  • YL8 (RB11A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62491

UniProtKB/Swiss-Prot:

RB11A_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 RAB11A: view

Function for RAB11A Gene

Molecular function for RAB11A 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 RAB11A regulates endocytic recycling. Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial cell polarization. Together with 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 Ig G) to basolateral membranes. May also play a role in melanosome transport and release from melanocytes.
GENATLAS Biochemistry:
RAS related GTP-binding protein,branch rab,member 11,widely expressed with two transcripts small and large,putatively involved in secretory pathway

Phenotypes From GWAS Catalog for RAB11A Gene

Gene Ontology (GO) - Molecular Function for RAB11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IDA 15837192
GO:0005515 protein binding IPI 12470645
GO:0005525 GTP binding IEA --
GO:0008017 microtubule binding IDA 24561039
genes like me logo Genes that share ontologies with RAB11A: view
genes like me logo Genes that share phenotypes with RAB11A: view

Human Phenotype Ontology for RAB11A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAB11A Gene

MGI Knock Outs for RAB11A:
  • Rab11a Rab11a<tm1b(KOMP)Wtsi>

miRNA for RAB11A Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB11A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAB11A Gene

Localization for RAB11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB11A Gene

Cell membrane. Lipid-anchor. Recycling endosome membrane. Lipid-anchor. Cleavage furrow. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle membrane. Note=Translocates with RAB11FIP2 from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane (PubMed:11994279). Localizes to the cleavage furrow (PubMed:15601896). Colocalizes with PARD3, PRKCI, EXOC5, OCLN, PODXL and RAB8A in apical membrane initiation sites (AMIS) during the generation of apical surface and lumenogenesis (PubMed:20890297). Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {ECO:0000269 PubMed:11994279, ECO:0000269 PubMed:15601896, ECO:0000269 PubMed:20890297, ECO:0000269 PubMed:21255211}.

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 RAB11A gene
Compartment Confidence
endosome 5
cytosol 5
golgi apparatus 5
plasma membrane 5
extracellular 5
cytoskeleton 5
lysosome 3
nucleus 2
endoplasmic reticulum 2
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 24561039
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IBA 21873635
GO:0005771 multivesicular body IDA 15634213
GO:0005794 Golgi apparatus HDA 16791210
genes like me logo Genes that share ontologies with RAB11A: view

Pathways & Interactions for RAB11A Gene

genes like me logo Genes that share pathways with RAB11A: view

Pathways by source for RAB11A Gene

4 GeneGo (Thomson Reuters) pathways for RAB11A Gene
  • Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
  • wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
2 Qiagen pathways for RAB11A Gene
  • Epithelial Tight Junctions
  • Remodeling of Adherens Junctions
1 Cell Signaling Technology pathway for RAB11A Gene

SIGNOR curated interactions for RAB11A Gene

Other effect:

Gene Ontology (GO) - Biological Process for RAB11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0006887 exocytosis IBA 21873635
GO:0007049 cell cycle IEA --
GO:0007080 mitotic metaphase plate congression IMP 24561039
GO:0010634 positive regulation of epithelial cell migration IMP 22613965
genes like me logo Genes that share ontologies with RAB11A: view

Drugs & Compounds for RAB11A Gene

(2) Drugs for RAB11A Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
5'-Guanosine-Diphosphate-Monothiophosphate Experimental Pharma Target 0
Guanosine diphosphate Experimental Pharma Target 0

(3) Additional Compounds for RAB11A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB11A: view

Transcripts for RAB11A Gene

mRNA/cDNA for RAB11A Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB11A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB11A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: -
SP2:
SP3: - -

Relevant External Links for RAB11A Gene

GeneLoc Exon Structure for
RAB11A

Expression for RAB11A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB11A Gene

Protein differential expression in normal tissues from HIPED for RAB11A Gene

This gene is overexpressed in Adipocyte (22.6), Monocytes (10.2), Bone (7.4), and Tlymphocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RAB11A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB11A

SOURCE GeneReport for Unigene cluster for RAB11A Gene:

Hs.321541

Evidence on tissue expression from TISSUES for RAB11A Gene

  • Nervous system(5)
  • Blood(4.6)
  • Skin(4.1)
  • Pancreas(3.8)
  • Kidney(3.7)
  • Intestine(3.5)
  • Lung(3.4)
  • Eye(3.3)
  • Heart(3.1)
  • Adrenal gland(3.1)
  • Muscle(3.1)
  • Spleen(3)
  • Stomach(2.9)
  • Lymph node(2.9)
  • Liver(2.9)
  • Thyroid gland(2.9)
  • Bone marrow(2.6)
  • Gall bladder(2.5)
genes like me logo Genes that share expression patterns with RAB11A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB11A Gene

Orthologs for RAB11A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB11A Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia RAB11A 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia RAB11A 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB11A 29 30
  • 96.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab11a 29 16 30
  • 95.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB11A 29 30
  • 95.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab11a 29
  • 94.91 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB11A 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB11A 29 30
  • 86.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB11A 30
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab11a 29
  • 80.25 (n)
Str.6874 29
Zebrafish
(Danio rerio)
Actinopterygii rab11a 29 30
  • 78.29 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004559 29
  • 69.18 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rab11 29 30 31
  • 66.98 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-11.2 30
  • 70 (a)
ManyToMany
rab-11.1 29 30 31
  • 66.83 (n)
ManyToMany
F11A5.3 31
  • 51 (a)
C33D12.6 31
  • 37 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B00671g 29
  • 60.78 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT31 29 30 32
  • 60.09 (n)
ManyToMany
YPT32 30
  • 59 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER434C 29
  • 55.83 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RABA1f 29
  • 60.66 (n)
Soybean
(Glycine max)
eudicotyledons Gma.15815 29
Rice
(Oryza sativa)
Liliopsida Os05g0564400 29
  • 60.51 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ypt3 29
  • 65.71 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01523 29
  • 64.27 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 44 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3887 29
Species where no ortholog for RAB11A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAB11A Gene

ENSEMBL:
Gene Tree for RAB11A (if available)
TreeFam:
Gene Tree for RAB11A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB11A: view image
Alliance of Genome Resources:
Additional Orthologs for RAB11A

Paralogs for RAB11A Gene

Pseudogenes.org Pseudogenes for RAB11A Gene

genes like me logo Genes that share paralogs with RAB11A: view

Variants for RAB11A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB11A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB11A Gene

Variant ID Type Subtype PubMed ID
esv2760035 CNV loss 17122850
nsv471684 CNV gain 15918152
nsv833044 CNV loss 17160897

Variation tolerance for RAB11A Gene

Residual Variation Intolerance Score: 38.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB11A Gene

Human Gene Mutation Database (HGMD)
RAB11A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB11A
Leiden Open Variation Database (LOVD)
RAB11A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB11A Gene

Disorders for RAB11A Gene

MalaCards: The human disease database

(17) MalaCards diseases for RAB11A Gene - From: ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RAB11A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RAB11A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB11A Gene

Publications for RAB11A Gene

  1. Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol-regulated translocation of NPC1L1 to the cell surface. (PMID: 19542231) Chu BB … Song BL (The Journal of biological chemistry 2009) 3 4 22
  2. Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells. (PMID: 17462998) Swiatecka-Urban A … Stanton BA (The Journal of biological chemistry 2007) 3 4 22
  3. Structural basis for Rab11-dependent membrane recruitment of a family of Rab11-interacting protein 3 (FIP3)/Arfophilin-1. (PMID: 17030804) Shiba T … Wakatsuki S (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22
  4. Crystallographic evidence for substrate-assisted GTP hydrolysis by a small GTP binding protein. (PMID: 15837192) Pasqualato S … Cherfils J (Structure (London, England : 1993) 2005) 3 4 22
  5. The RCP-Rab11 complex regulates endocytic protein sorting. (PMID: 15181150) Peden AA … Prekeris R (Molecular biology of the cell 2004) 3 4 22

Products for RAB11A Gene

Sources for RAB11A Gene