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Aliases for RAB8A Gene

Aliases for RAB8A Gene

  • RAB8A, Member RAS Oncogene Family 2 3 5
  • Mel Transforming Oncogene (Derived From Cell Line NK14) 2 3
  • Oncogene C-Mel 3 4
  • RAB8 3 4
  • MEL 3 4
  • Mel Transforming Oncogene (Derived From Cell Line NK14)- RAB8 Homolog 3
  • Mel Transforming Oncogene (RAB8 Homolog) 3
  • Ras-Associated Protein RAB8 3

External Ids for RAB8A Gene

Previous HGNC Symbols for RAB8A Gene

  • MEL

Previous GeneCards Identifiers for RAB8A Gene

  • GC19P016083
  • GC19P016222
  • GC19P015793

Summaries for RAB8A Gene

Entrez Gene Summary for RAB8A Gene

  • The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAB8A Gene

RAB8A (RAB8A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB8A include Microvillus Inclusion Disease and Joubert Syndrome 1. Among its related pathways are Translocation of GLUT4 to the plasma membrane and Regulation of PLK1 Activity at G2/M Transition. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB37.

UniProtKB/Swiss-Prot for RAB8A 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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, 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 and RAB11A participates in epithelial cell polarization. Plays an important role in ciliogenesis. Together with MICALL2, may also regulate adherens junction assembly. May play a role in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in glucose homeostasis.

Gene Wiki entry for RAB8A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB8A Gene

Genomics for RAB8A Gene

Regulatory Elements for RAB8A Gene

Enhancers for RAB8A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RAB8A on UCSC Golden Path with GeneCards custom track

Promoters for RAB8A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB8A on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB8A Gene

Chromosome:
19
Start:
16,111,629 bp from pter
End:
16,134,234 bp from pter
Size:
22,606 bases
Orientation:
Plus strand

Genomic View for RAB8A Gene

Genes around RAB8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB8A Gene

Proteins for RAB8A Gene

  • Protein details for RAB8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61006-RAB8A_HUMAN
    Recommended name:
    Ras-related protein Rab-8A
    Protein Accession:
    P61006
    Secondary Accessions:
    • B4DEK7
    • P24407
    • Q6FHV5

    Protein attributes for RAB8A Gene

    Size:
    207 amino acids
    Molecular mass:
    23668 Da
    Quaternary structure:
    • Interacts (GTP-bound form) with MICALL1; regulates RAB8A association with recycling endosomes. Interacts with MICALL2; competes with RAB13 and is involved in E-cadherin endocytic recycling. Interacts with MICAL1. Interacts with EHD1. Interacts with MAP4K2 and SYTL4. Interacts with SGSM1 and SGSM3. Interacts with RABIF, RIMS2, RPH3A and RPH3A. Interacts with OPTN. Interacts with RAB3IP. Interacts with MYO5B. Interacts with PIFO. Interacts with BIRC6/bruce. Interacts with OCRL.

    Three dimensional structures from OCA and Proteopedia for RAB8A Gene

    Alternative splice isoforms for RAB8A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB8A Gene

Proteomics data for RAB8A Gene at MOPED

Post-translational modifications for RAB8A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB8A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAB8A (RAB8A)

No data available for DME Specific Peptides for RAB8A Gene

Domains & Families for RAB8A Gene

Gene Families for RAB8A Gene

Suggested Antigen Peptide Sequences for RAB8A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P61006

UniProtKB/Swiss-Prot:

RAB8A_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 RAB8A: view

Function for RAB8A Gene

Molecular function for RAB8A Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Activated in response to insulin.
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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, 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 and RAB11A participates in epithelial cell polarization. Plays an important role in ciliogenesis. Together with MICALL2, may also regulate adherens junction assembly. May play a role in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in glucose homeostasis.
genes like me logo Genes that share phenotypes with RAB8A: view

Animal Models for RAB8A Gene

MGI Knock Outs for RAB8A:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB8A Gene

Localization for RAB8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB8A Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus. Recycling endosome membrane. Cell projection, cilium. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Colocalizes with OPTN at the Golgi complex and in vesicular structures close to the plasma membrane (PubMed:15837803). In the GDP-bound form, present in the perinuclear region (PubMed:12221131). Shows a polarized distribution to distal regions of cell protrusions in the GTP-bound form (PubMed:12221131). Colocalizes with PARD3, PRKCI, EXOC5, OCLN, PODXL and RAB11A in apical membrane initiation sites (AMIS) during the generation of apical surface and lumenogenesis (PubMed:20890297). Localizes to tubular recycling endosome (PubMed:19864458). Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {ECO:0000269 PubMed:12221131, ECO:0000269 PubMed:15837803, ECO:0000269 PubMed:19864458, ECO:0000269 PubMed:20890297, ECO:0000269 PubMed:21255211}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB8A Gene COMPARTMENTS Subcellular localization image for RAB8A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5
mitochondrion 2
vacuole 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RAB8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA --
GO:0005794 Golgi apparatus IEA --
GO:0005814 centriole IEA --
genes like me logo Genes that share ontologies with RAB8A: view

Pathways & Interactions for RAB8A Gene

genes like me logo Genes that share pathways with RAB8A: view

Pathways by source for RAB8A Gene

1 GeneGo (Thomson Reuters) pathway for RAB8A Gene
1 Qiagen pathway for RAB8A Gene

Gene Ontology (GO) - Biological Process for RAB8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006913 nucleocytoplasmic transport IEA --
GO:0006996 organelle organization TAS --
GO:0007409 axonogenesis ISS --
genes like me logo Genes that share ontologies with RAB8A: view

No data available for SIGNOR curated interactions for RAB8A Gene

Drugs & Compounds for RAB8A Gene

No Compound Related Data Available

Transcripts for RAB8A Gene

Unigene Clusters for RAB8A Gene

RAB8A, member RAS oncogene family:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAB8A Gene

No ASD Table

Relevant External Links for RAB8A Gene

GeneLoc Exon Structure for
RAB8A
ECgene alternative splicing isoforms for
RAB8A

Expression for RAB8A Gene

mRNA expression in normal human tissues for RAB8A Gene

mRNA differential expression in normal tissues according to GTEx for RAB8A Gene

This gene is overexpressed in Whole Blood (x5.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB8A Gene



SOURCE GeneReport for Unigene cluster for RAB8A Gene Hs.642874

genes like me logo Genes that share expression patterns with RAB8A: view

Protein tissue co-expression partners for RAB8A Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RAB8A Gene

Orthologs for RAB8A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB8A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAB8A 35
  • 96.3 (n)
  • 99.52 (a)
RAB8A 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB8A 35
  • 95.17 (n)
  • 100 (a)
RAB8A 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab8a 35
  • 92.11 (n)
  • 97.1 (a)
Rab8a 16
Rab8a 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB8A 35
  • 99.36 (n)
  • 99.52 (a)
RAB8A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab8a 35
  • 92.43 (n)
  • 97.1 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB8A 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB8A 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB8A 35
  • 83.74 (n)
  • 93.72 (a)
RAB8A 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab8a 35
  • 79.87 (n)
  • 95.65 (a)
Str.4347 35
zebrafish
(Danio rerio)
Actinopterygii rab8a 35
  • 79.55 (n)
  • 93.24 (a)
rab8a 36
  • 92 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001211 35
  • 70.05 (n)
  • 76.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rab8 35
  • 74.56 (n)
  • 79.23 (a)
Rab8 36
  • 79 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rab-8 35
  • 67.15 (n)
  • 73.91 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL021W 35
  • 61.73 (n)
  • 56.12 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E12079g 35
  • 57.53 (n)
  • 56.35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 35
  • 61.24 (n)
  • 58.72 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G59840 35
  • 67.26 (n)
  • 72.78 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.9039 35
rice
(Oryza sativa)
Liliopsida Os05g0461300 35
  • 68.2 (n)
  • 72.99 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.23107 35
corn
(Zea mays)
Liliopsida Zm.2826 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06404 35
  • 64.34 (n)
  • 63.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ypt2 35
  • 65.29 (n)
  • 72.35 (a)
Species with no ortholog for RAB8A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAB8A Gene

ENSEMBL:
Gene Tree for RAB8A (if available)
TreeFam:
Gene Tree for RAB8A (if available)

Paralogs for RAB8A Gene

genes like me logo Genes that share paralogs with RAB8A: view

Variants for RAB8A Gene

Sequence variations from dbSNP and Humsavar for RAB8A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs7257577 -- 16,121,977(+) CGGCC(C/T)ACCCC intron-variant
rs12983653 -- 16,110,083(+) tttat(C/T)tgttg upstream-variant-2KB
rs16981112 -- 16,111,210(+) GTGTG(C/G)GAATT upstream-variant-2KB
rs16981113 -- 16,111,486(+) AAGCC(A/C)CGCCC upstream-variant-2KB
rs16981116 -- 16,130,591(+) TGCAA(C/T)TTTTT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RAB8A Gene

Variant ID Type Subtype PubMed ID
nsv911158 CNV Loss 21882294
nsv833767 CNV Loss 17160897
esv2672248 CNV Deletion 23128226

Variation tolerance for RAB8A Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.63% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for RAB8A Gene

Disorders for RAB8A Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAB8A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
microvillus inclusion disease
  • diarrhea with microvillus atrophy 2
joubert syndrome 1
  • joubert syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RAB8A in MalaCards View complete list of genes associated with diseases

Relevant External Links for RAB8A

Human Genome Epidemiology (HuGE) Navigator
RAB8A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB8A
genes like me logo Genes that share disorders with RAB8A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB8A Gene

Publications for RAB8A Gene

  1. The MEL gene: a new member of the RAB/YPT class of RAS-related genes. (PMID: 1886711) Nimmo E.R. … Johnson K.J. (Oncogene 1991) 2 3 4 23 67
  2. In its active form, the GTP-binding protein rab8 interacts with a stress-activated protein kinase. (PMID: 8643544) Ren M. … Sabatini D.D. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 23
  3. Rab8, a small GTPase involved in vesicular traffic between the TGN and the basolateral plasma membrane. (PMID: 8408203) Huber L.A. … Simons K. (J. Cell Biol. 1993) 2 3
  4. The Rho-specific GAP protein DLC3 coordinates endocytic membrane trafficking. (PMID: 25673874) Braun A.C. … Olayioye M.A. (J. Cell. Sci. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for RAB8A Gene

Sources for RAB8A Gene

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