Human Gene RAB27B (uc002lfr.3) Description and Page Index
  Description: Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.
RefSeq Summary (NM_004163): Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF329499.1, SRR1803612.60884.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000262094.10/ ENSP00000262094.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr18:52,495,708-52,562,747 Size: 67,040 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr18:52,544,817-52,556,644 Size: 11,828 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:52,495,708-52,562,747)mRNA (may differ from genome)Protein (218 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: RB27B_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rab-27B; AltName: Full=C25KG;
FUNCTION: May be involved in targeting uroplakins to urothelial apical membranes (By similarity).
SUBUNIT: Binds SYTL4 and MYRIP. Interacts with SYTL2 (By similarity).
SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
TISSUE SPECIFICITY: Expressed primarily in testis.
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RAB27B
CDC HuGE Published Literature: RAB27B

-  MalaCards Disease Associations
  MalaCards Gene Search: RAB27B
Diseases sorted by gene-association score: griscelli syndrome (5)

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.95 RPKM in Esophagus - Mucosa
Total median expression: 74.32 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.80243-0.394 Picture PostScript Text
3' UTR -1497.216103-0.245 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
PF08477 - Ras of Complex, Roc, domain of DAPkinase

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2F7S
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O00194
FrontTopSide
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 orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  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:0019003 GDP binding
GO:0019904 protein domain specific binding
GO:0031489 myosin V binding

Biological Process:
GO:0002576 platelet degranulation
GO:0017157 regulation of exocytosis
GO:0032402 melanosome transport
GO:0045921 positive regulation of exocytosis
GO:0071985 multivesicular body sorting pathway

Cellular Component:
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0030140 trans-Golgi network transport vesicle
GO:0030141 secretory granule
GO:0030667 secretory granule membrane
GO:0031088 platelet dense granule membrane
GO:0032585 multivesicular body membrane
GO:0042470 melanosome
GO:0042589 zymogen granule membrane
GO:0070062 extracellular exosome
GO:0098993 anchored component of synaptic vesicle membrane


-  Descriptions from all associated GenBank mRNAs
  AK314115 - Homo sapiens cDNA, FLJ94805, Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.
AF329499 - Homo sapiens RAS-related protein RAB27B (RAB27B) mRNA, complete cds.
BC027474 - Homo sapiens RAB27B, member RAS oncogene family, mRNA (cDNA clone MGC:34424 IMAGE:4520182), complete cds.
U57093 - Homo sapiens small GTP-binding protein Rab27b mRNA, complete cds.
JD260038 - Sequence 241062 from Patent EP1572962.
EU176518 - Synthetic construct Homo sapiens clone IMAGE:100011493; FLH186261.01L; RZPDo839B06253D RAB27B, member RAS oncogene family (RAB27B) gene, encodes complete protein.
DQ892430 - Synthetic construct clone IMAGE:100005060; FLH186262.01X; RZPDo839C0871D RAB27B, member RAS oncogene family (RAB27B) gene, encodes complete protein.
AB528432 - Synthetic construct DNA, clone: pF1KB4961, Homo sapiens RAB27B gene for RAB27B, member RAS oncogene family, without stop codon, in Flexi system.
CU693268 - Synthetic construct Homo sapiens gateway clone IMAGE:100018038 5' read RAB27B mRNA.
KJ891968 - Synthetic construct Homo sapiens clone ccsbBroadEn_01362 RAB27B gene, encodes complete protein.
AF498954 - Homo sapiens small GTP binding protein RAB27B (RAB27B) mRNA, complete cds.
JD097030 - Sequence 78054 from Patent EP1572962.
JD215514 - Sequence 196538 from Patent EP1572962.
DL491791 - Novel nucleic acids.
AF131784 - Homo sapiens clone 25194 mRNA sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O00194 (Reactome details) participates in the following event(s):

R-HSA-481010 Surface deployment of platelet dense granule membrane components
R-HSA-8870466 RGGT:CHM binds RABs
R-HSA-8877308 MADD exchanges GTP for GDP on RAB27
R-HSA-8870469 RGGT geranylgeranylates RAB proteins
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-597592 Post-translational protein modification
R-HSA-9007101 Rab regulation of trafficking
R-HSA-109582 Hemostasis
R-HSA-392499 Metabolism of proteins
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAB0, NM_004163, NP_004154, O00194, Q9BZB6, RB27B_HUMAN
UCSC ID: uc002lfr.3
RefSeq Accession: NM_004163
Protein: O00194 (aka RB27B_HUMAN or R27B_HUMAN)
CCDS: CCDS11958.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004163.4
exon count: 6CDS single in 3' UTR: no RNA size: 7003
ORF size: 657CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1514.00frame shift in genome: no % Coverage: 100.00
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
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.