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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
  • Ras-Related Protein Rab-8A 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 Retinitis Pigmentosa and Joubert Syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB8B.

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 (PubMed:20890297). Together with MYO5B and RAB11A participates in epithelial cell polarization (PubMed:21282656). Plays an important role in ciliogenesis (PubMed:21844891). Together with MICALL2, may also regulate adherens junction assembly (By similarity). 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 (By similarity). Involved in autophagy (PubMed:27103069).

Gene Wiki entry for RAB8A Gene

Additional gene information for RAB8A Gene

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

Genomics for RAB8A Gene

GeneHancer (GH) Regulatory Elements for RAB8A Gene

Promoters and enhancers for RAB8A 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
GH19I016110 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.3 +4.5 4546 11 MLX DMAP1 YBX1 IRF4 YY1 E2F8 ZNF143 ZNF548 SP3 NFYC RAB8A CHERP AKAP8 BRD4 ENSG00000268743 ENSG00000269578 HAUS8 C19orf44 ENSG00000267904 ENSG00000268087
GH19I017072 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +965.6 965625 8.6 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 ZFP41 HAUS8 MYO9B GC19M017078 ENSG00000269578 CHERP ENSG00000267904 COLGALT1 ENSG00000268087 SIN3B ENSG00000269044
GH19I015123 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -986.4 -986377 3.7 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ILVBL ENSG00000268564 AKAP8 BRD4 ZNF333 TPM4 AKAP8L DDX39A OR1I1 ADGRL1
GH19I015826 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -278.9 -278864 12.9 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ENSG00000273782 AKAP8 MED26 ENSG00000269578 BRD4 CYP4F24P UCA1 OR10H4 CHERP OR10H5
GH19I016626 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.7 +516.9 516887 4.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ENSG00000141979 LOC105372296 MED26 SMIM7 C19orf44 ENSG00000269578 COLGALT1 HAUS8 CHERP SLC35E1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAB8A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB8A gene promoter:

Genomic Locations for RAB8A Gene

Genomic Locations for RAB8A Gene
chr19:16,111,629-16,134,234
(GRCh38/hg38)
Size:
22,606 bases
Orientation:
Plus strand
chr19:16,222,439-16,245,044
(GRCh37/hg19)

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 (GTP-bound form) with MICAL1, MICALCL, MICAL3, EHBP1 and EHBP1L1; at least in case of MICAL1, MICALCL, MICAL3 and EHBP1L1 two molecules of RAB8A can bind to one molecule of the effector protein; ternary complexes of RAB8A, RAB13 and either MICAL1 or EHBP1L1 are possible. 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. Interacts with AHI1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for RAB8A Gene

    Alternative splice isoforms for RAB8A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB8A Gene

Post-translational modifications for RAB8A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB8A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB8A Gene

Domains & Families for RAB8A Gene

Gene Families for RAB8A Gene

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

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 (PubMed:20890297). Together with MYO5B and RAB11A participates in epithelial cell polarization (PubMed:21282656). Plays an important role in ciliogenesis (PubMed:21844891). Together with MICALL2, may also regulate adherens junction assembly (By similarity). 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 (By similarity). Involved in autophagy (PubMed:27103069).

Phenotypes From GWAS Catalog for RAB8A Gene

Gene Ontology (GO) - Molecular Function for RAB8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IDA 17646400
GO:0005515 protein binding IPI 15837803
GO:0005525 GTP binding IDA 20937701
GO:0017137 Rab GTPase binding ISS --
genes like me logo Genes that share ontologies with RAB8A: view
genes like me logo Genes that share phenotypes with RAB8A: view

Animal Models for RAB8A Gene

MGI Knock Outs for RAB8A:

Clone Products

  • Addgene plasmids for RAB8A

No data available for Enzyme Numbers (IUBMB) , 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
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 RAB8A gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 5
golgi apparatus 5
endosome 5
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005813 centrosome IDA 24421332
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 Qiagen pathway for RAB8A Gene
1 Cell Signaling Technology 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:0006810 transport IEA --
GO:0006904 vesicle docking involved in exocytosis IDA 17574030
GO:0006914 autophagy IEA --
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:

Clone Products

  • Addgene plasmids for RAB8A

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RAB8A Gene



Protein tissue co-expression partners for RAB8A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB8A Gene:

RAB8A

SOURCE GeneReport for Unigene cluster for RAB8A Gene:

Hs.642874

Evidence on tissue expression from TISSUES for RAB8A Gene

  • Nervous system(4.8)
  • Skin(4.7)
  • Liver(4.5)
  • Lung(3.2)
  • Intestine(2.6)
  • Kidney(2.4)
  • Blood(2.2)
  • Eye(2)
genes like me logo Genes that share expression patterns with RAB8A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia RAB8A 33 34
  • 99.36 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB8A 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB8A 33 34
  • 96.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB8A 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB8A 33 34
  • 95.17 (n)
rat
(Rattus norvegicus)
Mammalia Rab8a 33
  • 92.43 (n)
mouse
(Mus musculus)
Mammalia Rab8a 33 16 34
  • 92.11 (n)
chicken
(Gallus gallus)
Aves RAB8A 33 34
  • 83.74 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rab8a 33
  • 79.87 (n)
Str.4347 33
zebrafish
(Danio rerio)
Actinopterygii rab8a 33 34
  • 79.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rab8 33 34
  • 74.56 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001211 33
  • 70.05 (n)
worm
(Caenorhabditis elegans)
Secernentea rab-8 33
  • 67.15 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL021W 33
  • 61.73 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 33
  • 61.24 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E12079g 33
  • 57.53 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G59840 33
  • 67.26 (n)
rice
(Oryza sativa)
Liliopsida Os05g0461300 33
  • 68.2 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.9039 33
wheat
(Triticum aestivum)
Liliopsida Ta.23107 33
corn
(Zea mays)
Liliopsida Zm.2826 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ypt2 33
  • 65.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06404 33
  • 64.34 (n)
Species where no ortholog for RAB8A 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)
  • 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 Variation AA Info Type
rs1000098539 -- 16,130,983(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000176227 -- 16,129,707(+) C/G intron_variant
rs1000323976 -- 16,129,829(+) G/C intron_variant
rs1000359663 -- 16,114,063(+) C/A intron_variant
rs1000408991 -- 16,121,194(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv2672248 CNV deletion 23128226
esv3643788 CNV loss 21293372
nsv833767 CNV loss 17160897
nsv953991 CNV deletion 24416366

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)

Additional Variant Information for RAB8A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB8A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB8A Gene

Disorders for RAB8A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • rp
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search RAB8A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 ER … Johnson KJ (Oncogene 1991) 2 3 4 22 58
  2. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. (PMID: 27103069) Sellier C … Charlet-Berguerand N (The EMBO journal 2016) 3 4 58
  3. A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo. (PMID: 21844891) Chen Y … Pei D (Cell research 2012) 3 4 58
  4. OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. (PMID: 22543976) Luo N … Sun Y (Human molecular genetics 2012) 3 4 58
  5. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4 58

Products for RAB8A Gene

  • Addgene plasmids for RAB8A

Sources for RAB8A Gene

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