RAB27A

RAB27A
Identifiers
Aliases RAB27A, GS2, HsT18676, RAB27, RAM, member RAS oncogene family
External IDs MGI: 1861441 HomoloGene: 3069 GeneCards: RAB27A
RNA expression pattern




More reference expression data
Orthologs
Species Human Mouse
Entrez

5873

11891

Ensembl

ENSG00000069974

ENSMUSG00000032202

UniProt

P51159

Q9ERI2

RefSeq (mRNA)

NM_004580
NM_183234
NM_183235
NM_183236

NM_001301230
NM_001301232
NM_023635

RefSeq (protein)

NP_004571.2
NP_899057.1
NP_899058.1
NP_899059.1

NP_001288159.1
NP_001288161.1
NP_076124.1

Location (UCSC) Chr 15: 55.2 – 55.32 Mb Chr 9: 73.04 – 73.1 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.[3][4]

Function

The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.[4]

The RAB27A gene is regulated by the Microphthalmia-associated transcription factor.[5][6]

Interactions

RAB27A has been shown to interact with:

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Seabra MC, Ho YK, Anant JS (Dec 1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". J Biol Chem. 270 (41): 24420–7. doi:10.1074/jbc.270.41.24420. PMID 7592656.
  4. 1 2 "Entrez Gene: RAB27A RAB27A, member RAS oncogene family".
  5. Chiaverini C, Beuret L, Flori E, Busca R, Abbe P, Bille K, Bahadoran P, Ortonne JP, Bertolotto C, Ballotti R (2008). "Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport". J. Biol. Chem. 283 (18): 12635–42. doi:10.1074/jbc.M800130200. PMID 18281284.
  6. Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  7. 1 2 3 Kuroda TS, Fukuda M, Ariga H, Mikoshiba K (Mar 2002). "The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain". J. Biol. Chem. 277 (11): 9212–8. doi:10.1074/jbc.M112414200. PMID 11773082.
  8. Wu X, Wang F, Rao K, Sellers JR, Hammer JA (May 2002). "Rab27a is an essential component of melanosome receptor for myosin Va". Mol. Biol. Cell. 13 (5): 1735–49. doi:10.1091/mbc.01-12-0595. PMC 111140Freely accessible. PMID 12006666.
  9. Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T (Apr 2002). "Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions". FEBS Lett. 517 (1-3): 233–8. doi:10.1016/s0014-5793(02)02634-0. PMID 12062444.
  10. Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (Jan 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Mol. Endocrinol. 18 (1): 117–26. doi:10.1210/me.2003-0300. PMID 14593078.
  11. Fukuda M (Apr 2003). "Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi:10.1074/jbc.M212341200. PMID 12578829.
  12. 1 2 Fukuda M (Apr 2003). "Slp4-a/granuphilin-a inhibits dense-core vesicle exocytosis through interaction with the GDP-bound form of Rab27A in PC12 cells". J. Biol. Chem. 278 (17): 15390–6. doi:10.1074/jbc.M213090200. PMID 12590134.
  13. 1 2 Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC (Jul 2002). "A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport". J. Biol. Chem. 277 (28): 25423–30. doi:10.1074/jbc.M202574200. PMID 11980908.

Further reading

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