Human Gene RAB6A (uc001ouf.3)
  Description: Homo sapiens RAB6A, member RAS oncogene family (RAB6A), transcript variant 2, mRNA.
RefSeq Summary (NM_198896): This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011].
Transcript (Including UTRs)
   Position: hg19 chr11:73,386,683-73,472,201 Size: 85,519 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr11:73,388,943-73,471,680 Size: 82,738 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:73,386,683-73,472,201)mRNA (may differ from genome)Protein (208 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RAB6A_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rab-6A; Short=Rab-6;
FUNCTION: Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity.
SUBUNIT: Interacts with CCDC64; leads to its accumulation in the pericentrosomal region (By similarity). Interacts with SCYL1BP1. Interacts with VSP52 and RABGAP1. Interacts with GCC2 (via its GRIP domain). Interacts with RAB6IP1 (via its RUN 1 domain). Isoform 1 interacts with RAB6KIFL. Isoform 2 does not interact with RAB6KIFL. Isoform 1 interacts with BICD1. Isoform 2 interacts with BICD1. Isoform 1 interacts with BICD2. Isoform 2 interacts with BICD2. Interacts with TMF1. Isoform 1 (GTP-bound) interacts with DYNLRB1; the interaction is direct. Isoform 2 (GDP-bound) interacts with DYNLRB1; the interaction is direct. Interacts with PIFO.
INTERACTION: Q8IWJ2:GCC2; NbExp=4; IntAct=EBI-1052826, EBI-1645320;
SUBCELLULAR LOCATION: Golgi apparatus membrane; Lipid-anchor.
TISSUE SPECIFICITY: Ubiquitous.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity).
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RAB6A
CDC HuGE Published Literature: RAB6A

-  MalaCards Disease Associations
  MalaCards Gene Search: RAB6A
Diseases sorted by gene-association score: proximal spinal muscular atrophy (2), deafness, autosomal recessive 63 (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 94.71 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 2120.95 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
5' UTR -269.20521-0.517 Picture PostScript Text
3' UTR -522.772260-0.231 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:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF01926 - 50S ribosome-binding GTPase
PF04670 - Gtr1/RagA G protein conserved region
PF08477 - Ras of Complex, Roc, domain of DAPkinase
PF09439 - Signal recognition particle receptor beta subunit

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1YZQ - X-ray MuPIT 2GIL - X-ray MuPIT 3BBP - X-ray MuPIT 3CWZ - X-ray


ModBase Predicted Comparative 3D Structure on P20340
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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
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 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:0019904 protein domain specific binding
GO:0031489 myosin V binding

Biological Process:
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0015031 protein transport
GO:0016032 viral process
GO:0016192 vesicle-mediated transport
GO:0018125 peptidyl-cysteine methylation
GO:0019882 antigen processing and presentation
GO:0034067 protein localization to Golgi apparatus
GO:0034498 early endosome to Golgi transport
GO:0043312 neutrophil degranulation
GO:0072385 minus-end-directed organelle transport along microtubule

Cellular Component:
GO:0000139 Golgi membrane
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030667 secretory granule membrane
GO:0031410 cytoplasmic vesicle
GO:0032588 trans-Golgi network membrane
GO:0070062 extracellular exosome
GO:0070381 endosome to plasma membrane transport vesicle


-  Descriptions from all associated GenBank mRNAs
  BC003617 - Homo sapiens RAB6A, member RAS oncogene family, mRNA (cDNA clone MGC:1654 IMAGE:3506585), complete cds.
AK057157 - Homo sapiens cDNA FLJ32595 fis, clone SPLEN2000505, highly similar to RAS-RELATED PROTEIN RAB-6.
BC096818 - Homo sapiens RAB6A, member RAS oncogene family, mRNA (cDNA clone MGC:110943 IMAGE:5295149), complete cds.
BC068486 - Homo sapiens RAB6A, member RAS oncogene family, mRNA (cDNA clone MGC:87150 IMAGE:30342562), complete cds.
AK299639 - Homo sapiens cDNA FLJ51066 complete cds, highly similar to Ras-related protein Rab-6A.
AK290132 - Homo sapiens cDNA FLJ77659 complete cds, highly similar to Homo sapiens RAB6A, member RAS oncogene family (RAB6A), mRNA.
AK301534 - Homo sapiens cDNA FLJ52284 complete cds, highly similar to Ras-related protein Rab-6A.
X13904 - H.sapiens mRNA for ras-related Hrab6 protein.
AK223551 - Homo sapiens mRNA for RAB6A, member RAS oncogene family isoform a variant, clone: FCC126F01.
AK289748 - Homo sapiens cDNA FLJ77658 complete cds, highly similar to Homo sapiens RAB6A, member RAS oncogene family (RAB6A), mRNA.
AK309311 - Homo sapiens cDNA, FLJ99352.
AF119836 - Homo sapiens GTP-binding protein RAB6C (RAB6C) mRNA, complete cds.
M28212 - Homo sapiens GTP-binding protein (RAB6) mRNA, complete cds.
AF130122 - Homo sapiens small GTP binding protein RAB6 isoform (RAB6) mRNA, complete cds.
EU832786 - Synthetic construct Homo sapiens clone HAIB:100067815; DKFZo008C0533 RAB6A, member RAS oncogene family protein (RAB6A) gene, encodes complete protein.
AF130986 - Homo sapiens RAS-related protein RAB6 mRNA, complete cds.
AF198616 - Homo sapiens Rab GTPase RAB6A' (RAB6A) mRNA, complete cds, alternatively spliced.
AF498939 - Homo sapiens small GTP binding protein RAB6A (RAB6A) mRNA, complete cds.
AF498941 - Homo sapiens small GTP binding protein RAB6C (RAB6C) mRNA, complete cds.
CR541984 - Homo sapiens full open reading frame cDNA clone RZPDo834D0335D for gene RAB6A, RAB6A, member RAS oncogene family; complete cds, incl. stopcodon.
DQ437503 - Homo sapiens Rab6A variant 3 mRNA, complete cds, alternatively spliced.
BT019698 - Homo sapiens RAB6A, member RAS oncogene family mRNA, complete cds.
GQ129261 - Synthetic construct Homo sapiens clone HAIB:100068475; DKFZo004C0534 RAB6A, member RAS oncogene family protein (RAB6A) gene, partial cds.
AB528609 - Synthetic construct DNA, clone: pF1KB5163, Homo sapiens RAB6A gene for RAB6A, member RAS oncogene family, without stop codon, in Flexi system.
KJ904544 - Synthetic construct Homo sapiens clone ccsbBroadEn_13938 RAB6A gene, encodes complete protein.
JD022935 - Sequence 3959 from Patent EP1572962.
AF052130 - Homo sapiens clone 23704 mRNA sequence.
JD331496 - Sequence 312520 from Patent EP1572962.
JD259950 - Sequence 240974 from Patent EP1572962.
JD046875 - Sequence 27899 from Patent EP1572962.
JD345981 - Sequence 327005 from Patent EP1572962.
JD347880 - Sequence 328904 from Patent EP1572962.
JD271208 - Sequence 252232 from Patent EP1572962.
JD042212 - Sequence 23236 from Patent EP1572962.
JD309441 - Sequence 290465 from Patent EP1572962.
JD563009 - Sequence 544033 from Patent EP1572962.
JD168828 - Sequence 149852 from Patent EP1572962.
JD301553 - Sequence 282577 from Patent EP1572962.
JD241784 - Sequence 222808 from Patent EP1572962.
JD085226 - Sequence 66250 from Patent EP1572962.
JD316041 - Sequence 297065 from Patent EP1572962.
JD418180 - Sequence 399204 from Patent EP1572962.
JD197520 - Sequence 178544 from Patent EP1572962.
JD276536 - Sequence 257560 from Patent EP1572962.
JD102702 - Sequence 83726 from Patent EP1572962.
AF091030 - Homo sapiens GTP-binding protein RAB6A' (RAB6A') mRNA, partial cds.
BC034996 - Homo sapiens RAB6A, member RAS oncogene family, mRNA (cDNA clone IMAGE:4824086).
JD462652 - Sequence 443676 from Patent EP1572962.
JD409478 - Sequence 390502 from Patent EP1572962.
JD543784 - Sequence 524808 from Patent EP1572962.
JD298112 - Sequence 279136 from Patent EP1572962.
JD175394 - Sequence 156418 from Patent EP1572962.
JD205166 - Sequence 186190 from Patent EP1572962.
JD200169 - Sequence 181193 from Patent EP1572962.
JD462667 - Sequence 443691 from Patent EP1572962.
JD214407 - Sequence 195431 from Patent EP1572962.
JD489538 - Sequence 470562 from Patent EP1572962.

-  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 P20340 (Reactome details) participates in the following event(s):

R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-8849348 RAB6:GTP and BICD homodimers bind COPI-independent Golgi-to-ER retrograde cargo
R-HSA-8854303 TBC1D11 binds RAB6
R-HSA-6811428 RIC1:RGP1 recruits RAB6:GDP to the TGN
R-HSA-8870466 RGGT:CHM binds RABs
R-HSA-8876193 RIC1-RGP1 exchanges GTP for GDP on RAB6
R-HSA-8849350 RAB6:GTP displaces PAFAH1B1 from dynein:dynactin complex
R-HSA-8870469 RGGT geranylgeranylates RAB proteins
R-HSA-6811431 RAB6:GTP binds the GARP and COG complexes, t-SNAREs and endosome-derived vesicles
R-HSA-6811429 RIC1:RGP1 stimulates nucleotide RAB6 nucleotide exchange
R-HSA-6798695 Neutrophil degranulation
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8854214 TBC/RABGAPs
R-HSA-168249 Innate Immune System
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
R-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-9007101 Rab regulation of trafficking
R-HSA-168256 Immune System
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-597592 Post-translational protein modification
R-HSA-199991 Membrane Trafficking
R-HSA-392499 Metabolism of proteins
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8K133, NM_198896, NP_942599, P20340, Q5U0A8, Q9UBE4, RAB6, RAB6A_HUMAN
UCSC ID: uc001ouf.3
RefSeq Accession: NM_198896
Protein: P20340 (aka RAB6A_HUMAN or RB6A_HUMAN)
CCDS: CCDS8224.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_198896.1
exon count: 8CDS single in 3' UTR: no RNA size: 3419
ORF size: 627CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1454.00frame shift in genome: no % Coverage: 99.68
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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