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, m... See more...

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
  • Ras-Related Protein Rab-8A 3 4
  • 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 Cervical Adenoma Malignum and Sphingolipidosis. Among its related pathways are Vesicle-mediated transport and Tight junction. 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 Summary 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). May be involved in ciliogenesis (PubMed:21844891, PubMed:30398148). 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 , Rfam classification and piRNA Summary for RAB8A Gene

Genomics for RAB8A Gene

GeneHancer (GH) Regulatory Elements for RAB8A Gene

Promoters and enhancers for RAB8A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB8A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB8A gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for RAB8A Gene

Genomic Locations for RAB8A Gene
chr19:16,111,680-16,134,234
(GRCh38/hg38)
Size:
22,555 bases
Orientation:
Plus strand
chr19:16,222,439-16,245,044
(GRCh37/hg19)
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 (By similarity). Interacts with MICALL2; competes with RAB13 and is involved in E-cadherin endocytic recycling (By similarity). 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 (PubMed:27552051). Interacts with EHD1 (PubMed:19864458). Interacts with MAP4K2 and SYTL4 (By similarity). Interacts with SGSM1 and SGSM3 (By similarity). Interacts with RABIF, RIMS2, RPH3A and RPH3A (By similarity). Interacts with OPTN (PubMed:15837803). Interacts with RAB3IP (PubMed:12221131). Interacts with MYO5B (PubMed:21282656). Interacts with PIFO (PubMed:20643351). Interacts with BIRC6/bruce (PubMed:18329369). Interacts with OCRL (PubMed:22543976, PubMed:21378754). Interacts with AHI1 (By similarity). Interacts with DCDC1 (PubMed:22159412). Interacts with LRRK2; interaction facilitates phosphorylation of Thr-72 (PubMed:26824392). Interacts with RAB31P, GDI1, GDI2, CHM, CHML, RABGGTA, RABGGTB, TBC1D15 and INPP5B; these interactions are dependent on Thr-72 not being phosphorylated (PubMed:26824392, PubMed:29125462). Interacts with RILPL1 and RILPL2; these interactions are dependent on the phosphorylation of Thr-72 by LRRK2 (PubMed:29125462, PubMed:30398148).

    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

  • Phosphorylation of Thr-72 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB8A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for RAB8A
  • Boster Bio Antibodies for RAB8A

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:
  • Oncogene c-mel (RAB8A_HUMAN)

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 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). May be involved in ciliogenesis (PubMed:21844891, PubMed:30398148). 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).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated in response to insulin.

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 IBA,IDA 17646400
GO:0005515 protein binding IPI 15207266
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:

Animal Model Products

CRISPR Products

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. Midbody. Cytoplasm. Cytoplasm, cytoskeleton, cilium axoneme. 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). Non-phosphorylated RAB8A predominantly localizes to the cytoplasm whereas phosphorylated RAB8A localizes to the membrane (PubMed:26824392, PubMed:29125462, PubMed:30398148). {ECO:0000269 PubMed:12221131, ECO:0000269 PubMed:15837803, ECO:0000269 PubMed:19864458, ECO:0000269 PubMed:20890297, ECO:0000269 PubMed:21255211, ECO:0000269 PubMed:26824392, ECO:0000269 PubMed:29125462, ECO:0000269 PubMed:30398148}.

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
cytoskeleton 5
endosome 5
cytosol 5
plasma membrane 4
golgi apparatus 4
nucleus 2
extracellular 1
mitochondrion 1
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 IBA 21873635
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
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for RAB8A Gene

SIGNOR curated interactions for RAB8A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RAB8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0006904 vesicle docking involved in exocytosis IDA 17574030
GO:0006914 autophagy IEA --
GO:0007409 axonogenesis ISS --
GO:0009306 protein secretion IBA 21873635
genes like me logo Genes that share ontologies with RAB8A: view

Drugs & Compounds for RAB8A Gene

No Compound Related Data Available

Transcripts for RAB8A Gene

mRNA/cDNA for RAB8A Gene

CRISPR Products

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, 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 32
  • 99.36 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB8A 33
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB8A 33 32
  • 96.3 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB8A 33
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB8A 33 32
  • 95.17 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab8a 32
  • 92.43 (n)
mouse
(Mus musculus)
Mammalia Rab8a 17 33 32
  • 92.11 (n)
chicken
(Gallus gallus)
Aves RAB8A 33 32
  • 83.74 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab8a 32
  • 79.87 (n)
Str.4347 32
zebrafish
(Danio rerio)
Actinopterygii rab8a 33 32
  • 79.55 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rab8 33 32
  • 74.56 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001211 32
  • 70.05 (n)
worm
(Caenorhabditis elegans)
Secernentea rab-8 32
  • 67.15 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL021W 32
  • 61.73 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 32
  • 61.24 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E12079g 32
  • 57.53 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G59840 32
  • 67.26 (n)
rice
(Oryza sativa)
Liliopsida Os05g0461300 32
  • 68.2 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.23107 32
barley
(Hordeum vulgare)
Liliopsida Hv.9039 32
corn
(Zea mays)
Liliopsida Zm.2826 32
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ypt2 32
  • 65.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06404 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB8A: view image

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 intron_variant
rs1000176227 -- 16,129,707(+) C/G intron_variant
rs1000323976 -- 16,129,829(+) G/A/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

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

Disorder Aliases PubMed IDs
cervical adenoma malignum
  • cervical mucinous adenocarcinoma, minimal deviation variant
sphingolipidosis
  • sphingolipidoses
cervical mucinous adenocarcinoma
retinitis pigmentosa
  • retinitis pigmentosa 1
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 23 56
  2. Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases. (PMID: 26824392) Steger M … Mann M (eLife 2016) 3 4 56
  3. 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 56
  4. A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo. (PMID: 21844891) Chen Y … Pei D (Cell research 2012) 3 4 56
  5. 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 56

Products for RAB8A Gene

Sources for RAB8A Gene