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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 Response to elevated platelet cytosolic Ca2+ and Vesicle-mediated transport. 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 | 250.1 | +111.6 | 111640 | 3.5 | FEZF1 IKZF1 ZNF217 SIX4 ELF1 ZIC2 CEBPB MAX ZNF341 GABPB1 | RAB27B CCDC68 POLI piR-48325-079 HSALNG0121662 | |
GH18J054717 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE dbSUPER | 250.7 | +0.3 | 324 | 0.9 | ZNF143 POLR2A RAD21 CTCF RUNX3 | RAB27B CCDC68 lnc-DYNAP-36 | |
GH18J054716 | Enhancer | 0.2 | ENCODE | 250.7 | -1.1 | -1077 | 0.2 | RAB27B CCDC68 piR-46476 DYNAP | ||
GH18J054822 | Enhancer | 1 | FANTOM5 Ensembl ENCODE | 19.7 | +105.2 | 105244 | 1.8 | CEBPB ZNF395 MAX EP300 PRDM1 RFX5 SMC3 STAT3 TBP FOSL1 | RAB27B POLI piR-48325-079 HSALNG0121662 CCDC68 | |
GH18J054873 | Enhancer | 0.9 | Ensembl ENCODE | 12.1 | +156.0 | 155968 | 1.2 | FEZF1 IKZF1 TAL1 RXRA FOXA2 ZBTB33 MYNN STAT5A JUND HNF4A | 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:0005768 | endosome | IEA | -- |
GO:0005770 | late endosome | IEA,IDA | 30771381 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005795 | Golgi stack | IDA | 19966785 |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
2 | Vesicle-mediated transport | ||
3 | Metabolism of proteins | ||
4 | Salivary secretion | ||
5 | Autophagy Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002576 | platelet degranulation | TAS | -- |
GO:0017157 | regulation of exocytosis | IEA | -- |
GO:0032402 | melanosome transport | IBA | 21873635 |
GO:0045921 | positive regulation of exocytosis | IBA,IMP | 19966785 |
GO:0048488 | synaptic vesicle endocytosis | IEA | -- |
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 |
|
|
griscelli syndrome, type 2 |
|
|
hermansky-pudlak syndrome |
|
|