RAB27A: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Ras-related protein Rab-27A''' is a [[protein]] that in humans is encoded by the ''RAB27A'' [[gene]].<ref name="pmid7592656">{{cite journal | vauthors = Seabra MC, Ho YK, Anant JS | title = Deficient geranylgeranylation of Ram/Rab27 in choroideremia | journal = J Biol Chem | volume = 270 | issue = 41 | pages = 24420–7 | date = Dec 1995 | pmid = 7592656 | pmc = | doi = 10.1074/jbc.270.41.24420 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RAB27A RAB27A, member RAS oncogene family| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5873| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = RAB27A, member RAS oncogene family
| HGNCid = 9766
| Symbol = RAB27A
| AltSymbols =; GS2; HsT18676; MGC117246; RAB27; RAM
| OMIM = 603868
| ECnumber = 
| Homologene = 3069
| MGIid = 1861441
| GeneAtlas_image1 = PBB_GE_RAB27A_209514_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_RAB27A_209515_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_RAB27A_210951_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003924 |text = GTPase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}}
| Component = {{GNF_GO|id=GO:0030425 |text = dendrite}} {{GNF_GO|id=GO:0042470 |text = melanosome}}
| Process = {{GNF_GO|id=GO:0007264 |text = small GTPase mediated signal transduction}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}} {{GNF_GO|id=GO:0015031 |text = protein transport}} {{GNF_GO|id=GO:0016192 |text = vesicle-mediated transport}} {{GNF_GO|id=GO:0051875 |text = pigment granule localization}} {{GNF_GO|id=GO:0051904 |text = pigment granule transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5873
    | Hs_Ensembl = ENSG00000069974
    | Hs_RefseqProtein = NP_004571
    | Hs_RefseqmRNA = NM_004580
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 15
    | Hs_GenLoc_start = 53283094
    | Hs_GenLoc_end = 53369293
    | Hs_Uniprot = P51159
    | Mm_EntrezGene = 11891
    | Mm_Ensembl = ENSMUSG00000032202
    | Mm_RefseqmRNA = XM_988908
    | Mm_RefseqProtein = XP_994002
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 72841997
    | Mm_GenLoc_end = 72894724
    | Mm_Uniprot = Q544U7
  }}
}}
'''RAB27A, member RAS oncogene family''', also known as '''RAB27A''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RAB27A RAB27A, member RAS oncogene family| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5873| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
 
| section_title =
The RAB27A gene is regulated by the [[Microphthalmia-associated transcription factor]].<ref name="pmid18281284">{{cite journal | vauthors = Chiaverini C, Beuret L, Flori E, Busca R, Abbe P, Bille K, Bahadoran P, Ortonne JP, Bertolotto C, Ballotti R | title = Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport | journal = J. Biol. Chem. | volume = 283 | issue = 18 | pages = 12635–42 | year = 2008 | pmid = 18281284 | doi = 10.1074/jbc.M800130200 }}</ref><ref name="pmidunknown">{{cite journal | vauthors = Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x }}</ref>
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: RAB27A RAB27A, member RAS oncogene family| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5873| accessdate = }}</ref>
 
}}
==Interactions==
RAB27A has been shown to [[Protein-protein interaction|interact]] with:
{{div col|colwidth=20em}}
* [[EXPH5]],<ref name = pmid11773082>{{cite journal | vauthors = Kuroda TS, Fukuda M, Ariga H, Mikoshiba K | title = The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain | journal = J. Biol. Chem. | volume = 277 | issue = 11 | pages = 9212–8 | date = Mar 2002 | pmid = 11773082 | doi = 10.1074/jbc.M112414200 }}</ref>
* [[MYO5A]],<ref name = pmid12006666>{{cite journal | vauthors = Wu X, Wang F, Rao K, Sellers JR, Hammer JA | title = Rab27a is an essential component of melanosome receptor for myosin Va | journal = Mol. Biol. Cell | volume = 13 | issue = 5 | pages = 1735–49 | date = May 2002 | pmid = 12006666 | pmc = 111140 | doi = 10.1091/mbc.01-12-0595 }}</ref><ref name = pmid12062444>{{cite journal | vauthors = Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T | title = Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions | journal = FEBS Lett. | volume = 517 | issue = 1-3 | pages = 233–8 | date = Apr 2002 | pmid = 12062444 | doi =  10.1016/s0014-5793(02)02634-0}}</ref>
* [[RPH3AL]]<ref name = pmid14593078>{{cite journal | vauthors = Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R | title = The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis | journal = Mol. Endocrinol. | volume = 18 | issue = 1 | pages = 117–26 | date = Jan 2004 | pmid = 14593078 | doi = 10.1210/me.2003-0300 }}</ref><ref name = pmid12578829>{{cite journal | author = Fukuda M | title = Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2 | journal = J. Biol. Chem. | volume = 278 | issue = 17 | pages = 15373–80 | date = Apr 2003 | pmid = 12578829 | doi = 10.1074/jbc.M212341200 }}</ref>
* [[SYTL1]],<ref name = pmid11773082/><ref name = pmid12590134>{{cite journal | author = Fukuda M | title = Slp4-a/granuphilin-a inhibits dense-core vesicle exocytosis through interaction with the GDP-bound form of Rab27A in PC12 cells | journal = J. Biol. Chem. | volume = 278 | issue = 17 | pages = 15390–6 | date = Apr 2003 | pmid = 12590134 | doi = 10.1074/jbc.M213090200 }}</ref><ref name = pmid11980908>{{cite journal | vauthors = Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC | title = A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport | journal = J. Biol. Chem. | volume = 277 | issue = 28 | pages = 25423–30 | date = Jul 2002 | pmid = 11980908 | doi = 10.1074/jbc.M202574200 }}</ref>  and
* [[SYTL2]].<ref name = pmid11773082/><ref name = pmid12590134/><ref name = pmid11980908/>
{{Div col end}}


==See also==
==See also==
Line 60: Line 22:


==References==
==References==
{{reflist|2}}
{{reflist|35em}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin|35em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Nagata K, Itoh H, Katada T, Takenaka K, Ui M, Kaziro Y, Nozawa Y | title = Purification, identification, and characterization of two GTP-binding proteins with molecular weights of 25,000 and 21,000 in human platelet cytosol. One is the rap1/smg21/Krev-1 protein and the other is a novel GTP-binding protein | journal = J. Biol. Chem. | volume = 264 | issue = 29 | pages = 17000–5 | year = 1989 | pmid = 2507536 | doi =  }}
| citations =
* {{cite journal | vauthors = Chen D, Guo J, Miki T, Tachibana M, Gahl WA | title = Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets | journal = Biochem. Mol. Med. | volume = 60 | issue = 1 | pages = 27–37 | year = 1997 | pmid = 9066979 | doi = 10.1006/bmme.1996.2559 }}
*{{cite journal | author=Nagata K, Itoh H, Katada T, ''et al.'' |title=Purification, identification, and characterization of two GTP-binding proteins with molecular weights of 25,000 and 21,000 in human platelet cytosol. One is the rap1/smg21/Krev-1 protein and the other is a novel GTP-binding protein. |journal=J. Biol. Chem. |volume=264 |issue= 29 |pages= 17000-5 |year= 1989 |pmid= 2507536 |doi=  }}
* {{cite journal | vauthors = Tolmachova T, Ramalho JS, Anant JS, Schultz RA, Huxley CM, Seabra MC | title = Cloning, mapping and characterization of the human RAB27A gene | journal = Gene | volume = 239 | issue = 1 | pages = 109–16 | year = 1999 | pmid = 10571040 | doi = 10.1016/S0378-1119(99)00371-6 }}
*{{cite journal | author=Seabra MC, Ho YK, Anant JS |title=Deficient geranylgeranylation of Ram/Rab27 in choroideremia. |journal=J. Biol. Chem. |volume=270 |issue= 41 |pages= 24420-7 |year= 1995 |pmid= 7592656 |doi= }}
* {{cite journal | vauthors = Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G | title = Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome | journal = Nat. Genet. | volume = 25 | issue = 2 | pages = 173–6 | year = 2000 | pmid = 10835631 | doi = 10.1038/76024 }}
*{{cite journal | author=Chen D, Guo J, Miki T, ''et al.'' |title=Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. |journal=Biochem. Mol. Med. |volume=60 |issue= 1 |pages= 27-37 |year= 1997 |pmid= 9066979 |doi= }}
* {{cite journal | vauthors = Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL | title = Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 97 | issue = 17 | pages = 9543–8 | year = 2000 | pmid = 10931946 | pmc = 16901 | doi = 10.1073/pnas.160270997 }}
*{{cite journal | author=Tolmachova T, Ramalho JS, Anant JS, ''et al.'' |title=Cloning, mapping and characterization of the human RAB27A gene. |journal=Gene |volume=239 |issue= 1 |pages= 109-16 |year= 1999 |pmid= 10571040 |doi= }}
* {{cite journal | vauthors = Haddad EK, Wu X, Hammer JA, Henkart PA | title = Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice | journal = J. Cell Biol. | volume = 152 | issue = 4 | pages = 835–42 | year = 2001 | pmid = 11266473 | pmc = 2195776 | doi = 10.1083/jcb.152.4.835 }}
*{{cite journal | author=Ménasché G, Pastural E, Feldmann J, ''et al.'' |title=Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. |journal=Nat. Genet. |volume=25 |issue= 2 |pages= 173-6 |year= 2000 |pmid= 10835631 |doi= 10.1038/76024 }}
* {{cite journal | vauthors = Bahadoran P, Aberdam E, Mantoux F, Buscà R, Bille K, Yalman N, de Saint-Basile G, Casaroli-Marano R, Ortonne JP, Ballotti R | title = Rab27a: A key to melanosome transport in human melanocytes | journal = J. Cell Biol. | volume = 152 | issue = 4 | pages = 843–50 | year = 2001 | pmid = 11266474 | pmc = 2195788 | doi = 10.1083/jcb.152.4.843 }}
*{{cite journal | author=Hu RM, Han ZG, Song HD, ''et al.'' |title=Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 17 |pages= 9543-8 |year= 2000 |pmid= 10931946 |doi= 10.1073/pnas.160270997 }}
* {{cite journal | vauthors = Xu XR, Huang J, Xu ZG, Qian BZ, Zhu ZD, Yan Q, Cai T, Zhang X, Xiao HS, Qu J, Liu F, Huang QH, Cheng ZH, Li NG, Du JJ, Hu W, Shen KT, Lu G, Fu G, Zhong M, Xu SH, Gu WY, Huang W, Zhao XT, Hu GX, Gu JR, Chen Z, Han ZG | title = Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 98 | issue = 26 | pages = 15089–94 | year = 2002 | pmid = 11752456 | pmc = 64988 | doi = 10.1073/pnas.241522398 }}
*{{cite journal | author=Haddad EK, Wu X, Hammer JA, Henkart PA |title=Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice. |journal=J. Cell Biol. |volume=152 |issue= 4 |pages= 835-42 |year= 2001 |pmid= 11266473 |doi= }}
* {{cite journal | vauthors = Kuroda TS, Fukuda M, Ariga H, Mikoshiba K | title = The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain | journal = J. Biol. Chem. | volume = 277 | issue = 11 | pages = 9212–8 | year = 2002 | pmid = 11773082 | doi = 10.1074/jbc.M112414200 }}
*{{cite journal | author=Bahadoran P, Aberdam E, Mantoux F, ''et al.'' |title=Rab27a: A key to melanosome transport in human melanocytes. |journal=J. Cell Biol. |volume=152 |issue= 4 |pages= 843-50 |year= 2001 |pmid= 11266474 |doi= }}
* {{cite journal | vauthors = Fukuda M, Kuroda TS, Mikoshiba K | title = Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport | journal = J. Biol. Chem. | volume = 277 | issue = 14 | pages = 12432–6 | year = 2002 | pmid = 11856727 | doi = 10.1074/jbc.C200005200 }}
*{{cite journal | author=Xu XR, Huang J, Xu ZG, ''et al.'' |title=Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 26 |pages= 15089-94 |year= 2002 |pmid= 11752456 |doi= 10.1073/pnas.241522398 }}
* {{cite journal | vauthors = Yi Z, Yokota H, Torii S, Aoki T, Hosaka M, Zhao S, Takata K, Takeuchi T, Izumi T | title = The Rab27a/granuphilin complex regulates the exocytosis of insulin-containing dense-core granules | journal = Mol. Cell. Biol. | volume = 22 | issue = 6 | pages = 1858–67 | year = 2002 | pmid = 11865063 | pmc = 135591 | doi = 10.1128/MCB.22.6.1858-1867.2002 }}
*{{cite journal | author=Kuroda TS, Fukuda M, Ariga H, Mikoshiba K |title=The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. |journal=J. Biol. Chem. |volume=277 |issue= 11 |pages= 9212-8 |year= 2002 |pmid= 11773082 |doi= 10.1074/jbc.M112414200 }}
* {{cite journal | vauthors = Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC | title = A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport | journal = J. Biol. Chem. | volume = 277 | issue = 28 | pages = 25423–30 | year = 2002 | pmid = 11980908 | doi = 10.1074/jbc.M202574200 }}
*{{cite journal | author=Fukuda M, Kuroda TS, Mikoshiba K |title=Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. |journal=J. Biol. Chem. |volume=277 |issue= 14 |pages= 12432-6 |year= 2002 |pmid= 11856727 |doi= 10.1074/jbc.C200005200 }}
* {{cite journal | vauthors = Wu X, Wang F, Rao K, Sellers JR, Hammer JA | title = Rab27a is an essential component of melanosome receptor for myosin Va | journal = Mol. Biol. Cell | volume = 13 | issue = 5 | pages = 1735–49 | year = 2002 | pmid = 12006666 | pmc = 111140 | doi = 10.1091/mbc.01-12-0595 }}
*{{cite journal | author=Yi Z, Yokota H, Torii S, ''et al.'' |title=The Rab27a/granuphilin complex regulates the exocytosis of insulin-containing dense-core granules. |journal=Mol. Cell. Biol. |volume=22 |issue= 6 |pages= 1858-67 |year= 2002 |pmid= 11865063 |doi= }}
* {{cite journal | vauthors = Kuroda TS, Fukuda M, Ariga H, Mikoshiba K | title = Synaptotagmin-like protein 5: a novel Rab27A effector with C-terminal tandem C2 domains | journal = Biochem. Biophys. Res. Commun. | volume = 293 | issue = 3 | pages = 899–906 | year = 2002 | pmid = 12051743 | doi = 10.1016/S0006-291X(02)00320-0 }}
*{{cite journal | author=Strom M, Hume AN, Tarafder AK, ''et al.'' |title=A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. |journal=J. Biol. Chem. |volume=277 |issue= 28 |pages= 25423-30 |year= 2002 |pmid= 11980908 |doi= 10.1074/jbc.M202574200 }}
* {{cite journal | vauthors = Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H | title = Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A | journal = Am. J. Hum. Genet. | volume = 71 | issue = 2 | pages = 407–14 | year = 2002 | pmid = 12058346 | pmc = 379173 | doi = 10.1086/341606 }}
*{{cite journal | author=Wu X, Wang F, Rao K, ''et al.'' |title=Rab27a is an essential component of melanosome receptor for myosin Va. |journal=Mol. Biol. Cell |volume=13 |issue= 5 |pages= 1735-49 |year= 2002 |pmid= 12006666 |doi= 10.1091/mbc.01-12-0595 }}
* {{cite journal | vauthors = Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T | title = Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions | journal = FEBS Lett. | volume = 517 | issue = 1–3 | pages = 233–8 | year = 2002 | pmid = 12062444 | doi = 10.1016/S0014-5793(02)02634-0 }}
*{{cite journal | author=Kuroda TS, Fukuda M, Ariga H, Mikoshiba K |title=Synaptotagmin-like protein 5: a novel Rab27A effector with C-terminal tandem C2 domains. |journal=Biochem. Biophys. Res. Commun. |volume=293 |issue= 3 |pages= 899-906 |year= 2002 |pmid= 12051743 |doi= 10.1016/S0006-291X(02)00320-0 }}
* {{cite journal | vauthors = Torii S, Zhao S, Yi Z, Takeuchi T, Izumi T | title = Granuphilin modulates the exocytosis of secretory granules through interaction with syntaxin 1a | journal = Mol. Cell. Biol. | volume = 22 | issue = 15 | pages = 5518–26 | year = 2002 | pmid = 12101244 | pmc = 133943 | doi = 10.1128/MCB.22.15.5518-5526.2002 }}
*{{cite journal | author=Anikster Y, Huizing M, Anderson PD, ''et al.'' |title=Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. |journal=Am. J. Hum. Genet. |volume=71 |issue= 2 |pages= 407-14 |year= 2002 |pmid= 12058346 |doi= }}
* {{cite journal | vauthors = Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K | title = Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants | journal = Mol. Vis. | volume = 8 | issue = | pages = 205–20 | year = 2002 | pmid = 12107410 | doi =  }}
*{{cite journal | author=Nagashima K, Torii S, Yi Z, ''et al.'' |title=Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. |journal=FEBS Lett. |volume=517 |issue= 1-3 |pages= 233-8 |year= 2002 |pmid= 12062444 |doi= }}
* {{cite journal | vauthors = Barral DC, Ramalho JS, Anders R, Hume AN, Knapton HJ, Tolmachova T, Collinson LM, Goulding D, Authi KS, Seabra MC | title = Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome | journal = J. Clin. Invest. | volume = 110 | issue = 2 | pages = 247–57 | year = 2002 | pmid = 12122117 | pmc = 151050 | doi = 10.1172/JCI15058 }}
*{{cite journal | author=Torii S, Zhao S, Yi Z, ''et al.'' |title=Granuphilin modulates the exocytosis of secretory granules through interaction with syntaxin 1a. |journal=Mol. Cell. Biol. |volume=22 |issue= 15 |pages= 5518-26 |year= 2002 |pmid= 12101244 |doi=  }}
*{{cite journal | author=Wistow G, Bernstein SL, Wyatt MK, ''et al.'' |title=Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. |journal=Mol. Vis. |volume=8 |issue= |pages= 205-20 |year= 2002 |pmid= 12107410 |doi= }}
*{{cite journal  | author=Barral DC, Ramalho JS, Anders R, ''et al.'' |title=Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. |journal=J. Clin. Invest. |volume=110 |issue= 2 |pages= 247-57 |year= 2002 |pmid= 12122117 |doi=  }}
}}
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Latest revision as of 08:46, 10 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.[1][2]

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.[2]

The RAB27A gene is regulated by the Microphthalmia-associated transcription factor.[3][4]

Interactions

RAB27A has been shown to interact with:

See also

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: RAB27A RAB27A, member RAS oncogene family".
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 5.0 5.1 5.2 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.
  6. ↑ 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 111140. PMID 12006666.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 10.0 10.1 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.
  11. ↑ 11.0 11.1 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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