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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]
RAB27B (RAB27B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB27B include Griscelli Syndrome and Piebald Trait. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB27A.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH18J054827 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.1 | +111.6 | 111640 | 3.5 | HNRNPL PRDM10 IKZF1 ZNF692 FOXA1 PRDM1 ZIC2 ZSCAN4 PATZ1 ZNF501 | RAB27B CCDC68 POLI piR-48325-079 lnc-DYNAP-2 | |
GH18J054717 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE dbSUPER | 600.7 | +0.2 | 230 | 0.9 | ZNF143 POLR2A RAD21 RUNX3 CTCF | RAB27B CCDC68 lnc-DYNAP-36 | |
GH18J054716 | Enhancer | 0.2 | ENCODE | 600.7 | -1.1 | -1077 | 0.2 | RAB27B CCDC68 piR-46476 DYNAP | ||
GH18J054822 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE | 19.7 | +105.8 | 105758 | 2.8 | JUND REST CEBPB SP1 HMBOX1 ATF3 NR3C1 CHD2 JUN RCOR1 | RAB27B POLI CCDC68 piR-48325-079 lnc-DYNAP-2 | |
GH18J054873 | Enhancer | 0.9 | Ensembl ENCODE | 12.1 | +156.0 | 155968 | 1.2 | REST IKZF1 SP1 ETV6 TCF12 EP300 HMBOX1 FOXA2 YY1 ZBTB33 | RAB27B ENSG00000267311 piR-48325-079 CCDC68 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IEA,ISS | -- |
GO:0005515 | protein binding | IPI | 15357836 |
GO:0005525 | GTP binding | IEA,ISS | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005770 | late endosome | IEA,IDA | 30771381 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005795 | Golgi stack | IDA | 19966785 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
2 | Vesicle-mediated transport | ||
3 | Metabolism of proteins | ||
4 | Pancreatic secretion | ||
5 | Autophagy Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002576 | platelet degranulation | TAS | -- |
GO:0006886 | intracellular protein transport | IBA | -- |
GO:0017157 | regulation of exocytosis | IEA | -- |
GO:0032402 | melanosome transport | IBA | 21873635 |
GO:0032482 | Rab protein signal transduction | IBA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAB27B 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAB27B 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAB27B 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAB27B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAB27B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rab27b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rab27b 30 |
|
||
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | RAB27B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rab27b 30 |
|
||
Str.6764 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16300 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | RAB27B 31 |
|
OneToOne | |
si:ch1073-112i17.1 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | EG:80H7.4 32 |
|
|
|
Rab27 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | aex-6 31 |
|
OneToMany | |
4R79.2 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YPT10 31 |
|
ManyToMany | |
YPT52 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs9966265 | - | p.Ala92Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2660892 | CNV | deletion | 23128226 |
esv2717130 | CNV | deletion | 23290073 |
esv3642588 | CNV | loss | 21293372 |
nsv2314 | CNV | deletion | 18451855 |
nsv510458 | OTHER | sequence alteration | 20534489 |
nsv520160 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
griscelli syndrome |
|
|
piebald trait |
|
|