Human Gene RAB8A (ENST00000300935.8) from GENCODE V44
  Description: Homo sapiens RAB8A, member RAS oncogene family (RAB8A), mRNA. (from RefSeq NM_005370)
RefSeq Summary (NM_005370): 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].
Gencode Transcript: ENST00000300935.8
Gencode Gene: ENSG00000167461.12
Transcript (Including UTRs)
   Position: hg38 chr19:16,111,889-16,134,234 Size: 22,346 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr19:16,111,902-16,132,304 Size: 20,403 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:16,111,889-16,134,234)mRNA (may differ from genome)Protein (207 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RAB8A_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rab-8A; AltName: Full=Oncogene c-mel; Flags: Precursor;
FUNCTION: May be involved in 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.
SUBUNIT: Interacts with MAP4K2 and SYTL4. Interacts with SGSM1 and SGSM3 (By similarity). Interacts with OPTN. Interacts with RAB3IP. Interacts with MYO5B. Interacts with PIFO. Interacts with BIRC6/bruce. Interacts with OCRL.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Golgi apparatus. Cytoplasm, perinuclear region. Cell projection. Note=Colocalizes with OPTN at the Golgi complex and in vesicular structures close to the plasma membrane. In the GDP-bound form, present in the perinuclear region. Shows a polarized distribution to distal regions of cell protrusions in the GTP-bound form. Colocalizes with PARD3, PRKCI, EXOC5, OCLN, PODXL and RAB11A in apical membrane initiation sites (AMIS) during the generation of apical surface and luminogenesis.
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RAB8A
Diseases sorted by gene-association score: retinitis pigmentosa (1), joubert syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.09 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 403.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -647.601930-0.336 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR003579 - Small_GTPase_Rab_type

Pfam Domains:
PF00071 - Ras family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3QBT - X-ray MuPIT 3TNF - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P61006
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0017137 Rab GTPase binding
GO:0019003 GDP binding
GO:0019901 protein kinase binding
GO:0031489 myosin V binding

Biological Process:
GO:0006904 vesicle docking involved in exocytosis
GO:0006914 autophagy
GO:0007409 axonogenesis
GO:0009306 protein secretion
GO:0010506 regulation of autophagy
GO:0015031 protein transport
GO:0017157 regulation of exocytosis
GO:0030030 cell projection organization
GO:0032869 cellular response to insulin stimulus
GO:0032880 regulation of protein localization
GO:0043687 post-translational protein modification
GO:0048169 regulation of long-term neuronal synaptic plasticity
GO:0048210 Golgi vesicle fusion to target membrane
GO:0051223 regulation of protein transport
GO:0060271 cilium assembly
GO:0072659 protein localization to plasma membrane
GO:0098969 neurotransmitter receptor transport to postsynaptic membrane

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0008021 synaptic vesicle
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030140 trans-Golgi network transport vesicle
GO:0030425 dendrite
GO:0030496 midbody
GO:0030667 secretory granule membrane
GO:0030670 phagocytic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0032588 trans-Golgi network membrane
GO:0036064 ciliary basal body
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0043197 dendritic spine
GO:0045335 phagocytic vesicle
GO:0055037 recycling endosome
GO:0055038 recycling endosome membrane
GO:0070062 extracellular exosome
GO:0097546 ciliary base
GO:0097730 non-motile cilium


-  Descriptions from all associated GenBank mRNAs
  AK025165 - Homo sapiens cDNA: FLJ21512 fis, clone COL05769.
BC002977 - Homo sapiens RAB8A, member RAS oncogene family, mRNA (cDNA clone MGC:2196 IMAGE:3547214), complete cds.
AK293676 - Homo sapiens cDNA FLJ53028 complete cds, highly similar to Ras-related protein Rab-8A.
X56741 - H.sapiens mRNA for rab8 gene.
CR542274 - Homo sapiens full open reading frame cDNA clone RZPDo834F0726D for gene RAB8A, RAB8A, member RAS oncogene family; complete cds, without stopcodon.
BT007184 - Homo sapiens mel transforming oncogene (derived from cell line NK14)- RAB8 homolog mRNA, complete cds.
DQ892523 - Synthetic construct clone IMAGE:100005153; FLH187153.01X; RZPDo839E0472D RAB8A, member RAS oncogene family (RAB8A) gene, encodes complete protein.
DQ895735 - Synthetic construct Homo sapiens clone IMAGE:100010195; FLH187149.01L; RZPDo839E0462D RAB8A, member RAS oncogene family (RAB8A) gene, encodes complete protein.
AF498943 - Homo sapiens small GTP binding protein RAB8 (RAB8) mRNA, complete cds.
CR536583 - Homo sapiens full open reading frame cDNA clone RZPDo834C0322D for gene RAB8A, RAB8A, member RAS oncogene family; complete cds, incl. stopcodon.
AB209767 - Homo sapiens mRNA for mel transforming oncogene variant protein.
DL491729 - Novel nucleic acids.
DL490309 - Novel nucleic acids.
JD101478 - Sequence 82502 from Patent EP1572962.
JD057278 - Sequence 38302 from Patent EP1572962.
JD121581 - Sequence 102605 from Patent EP1572962.
JD346156 - Sequence 327180 from Patent EP1572962.
JD053863 - Sequence 34887 from Patent EP1572962.
JD455783 - Sequence 436807 from Patent EP1572962.
JD076031 - Sequence 57055 from Patent EP1572962.
JD282808 - Sequence 263832 from Patent EP1572962.
JD476555 - Sequence 457579 from Patent EP1572962.
JD059558 - Sequence 40582 from Patent EP1572962.
JD368490 - Sequence 349514 from Patent EP1572962.
JD164729 - Sequence 145753 from Patent EP1572962.
JD558170 - Sequence 539194 from Patent EP1572962.
JD132760 - Sequence 113784 from Patent EP1572962.
JD126168 - Sequence 107192 from Patent EP1572962.
JD077094 - Sequence 58118 from Patent EP1572962.
JD115021 - Sequence 96045 from Patent EP1572962.
JD294561 - Sequence 275585 from Patent EP1572962.
JD484379 - Sequence 465403 from Patent EP1572962.
JD566586 - Sequence 547610 from Patent EP1572962.
JD262880 - Sequence 243904 from Patent EP1572962.
JD558117 - Sequence 539141 from Patent EP1572962.
JD039241 - Sequence 20265 from Patent EP1572962.
AY319652 - Homo sapiens ALX mRNA, complete cds.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_rabPathway - Rab GTPases Mark Targets In The Endocytotic Machinery

Reactome (by CSHL, EBI, and GO)

Protein P61006 (Reactome details) participates in the following event(s):

R-HSA-2562526 PLK1 phosphorylates OPTN
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-2255343 RAB8A,10,13,14 exchange GDP for GTP
R-HSA-1445143 RAB8A,10,13,14 hydrolyze GTP
R-HSA-5623519 RAB3IP and RAB8A bind to the ciliary targeting complex
R-HSA-5623521 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-5623524 The exocyst complex binds to RAB3IP in the ciliary targeting complex
R-HSA-8870466 RGGT:CHM binds RABs
R-HSA-8876190 RAB8 GEFs exchange GTP for GDP on RAB8
R-HSA-8870469 RGGT geranylgeranylates RAB proteins
R-HSA-8854182 TBC1D17 binds OPTN:RAB8A
R-HSA-2562597 Optineurin and Myosin Phosphatase Negatively Regulate PLK1
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-1445148 Translocation of GLUT4 to the plasma membrane
R-HSA-69275 G2/M Transition
R-HSA-5620916 VxPx cargo-targeting to cilium
R-HSA-5617833 Cilium Assembly
R-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-199991 Membrane Trafficking
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-597592 Post-translational protein modification
R-HSA-8854214 TBC/RABGAPs
R-HSA-9007101 Rab regulation of trafficking
R-HSA-5653656 Vesicle-mediated transport
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-392499 Metabolism of proteins
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000300935.1, ENST00000300935.2, ENST00000300935.3, ENST00000300935.4, ENST00000300935.5, ENST00000300935.6, ENST00000300935.7, MEL, NM_005370, P24407, P61006, Q6FHV5, RAB8, RAB8A_HUMAN, uc002ndn.1, uc002ndn.2, uc002ndn.3, uc002ndn.4, uc002ndn.5, uc002ndn.6
UCSC ID: ENST00000300935.8
RefSeq Accession: NM_005370
Protein: P61006 (aka RAB8A_HUMAN or RB8A_HUMAN)
CCDS: CCDS12339.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.