Property Summary

NCBI Gene PubMed Count 25
Grant Count 5
Funding $229,698.67
PubMed Score 38.28
PubTator Score 30.03

Knowledge Summary

Patent

No data available

Expression

Gene RIF (12)

PMID Text
26411452 These results unravel a hidden link between AR and a functional putative PCa risk SNP, whose allele alteration affects androgen regulation of its host gene MLPH.
24584932 The results showed that Rab27A(Q78L) is unable to localize on mature melanosomes and that its inhibitory activity on melanosome transport is completely dependent on its binding to the Rab27A effector Slac2-a/melanophilin.
21883982 The pathologic defect in Griscelli syndrome 3 came from the MLPH R35W substitution, which induced aggregation of melanosomes in the perinuclear area of melanocytes because of failure to interact with RAB27A.
16415175 Observational study of gene-disease association. (HuGE Navigator)
15517821 deletion 2q37.3 is implicated in autism
12897212 Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
12221080 The C-terminus of Slac2-a/melanophilin contains a novel actin-binding site, which may be involved in capture of Rab27-containing organelles in the actin-enriched cell periphery.
12189142 SHD1 of Slac2-a/melanophilin alone is both necessary and sufficient for high affinity specific recognition of the GTP-bound form of Rab27A
12062444 Melanophilin has a role in bridging Rab27a on melanosomes and myosin Va on actin filaments during melanosome transport.
11980908 links rab27a and myosin Va function in melanosome transport
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AA Sequence

MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLNETHCARCLQP      1 - 70
YQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEWYYEHVKARFKRFGSAKVIRS     71 - 140
LHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQPFGSKKKRLLSVHDFDFEGDSDDSTQPQGH    141 - 210
SLHLSSVPEARDSPQSLTDESCSEKAAPHKAEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPG    211 - 280
GSHRMALGTAAALGSNVIRNEQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISA    281 - 350
VECLLTYLENTVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKS    351 - 420
VGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAESEVSDIESRI    421 - 490
AALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKAMAVPYLLRRKFSNSLKSQGK    491 - 560
DDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS                                  561 - 600
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Publication (26)

PMID Year Title
26411452 2016 Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.
24584932 2014 The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
21883982 2012 Cellular and clinical report of new Griscelli syndrome type III cases.
21743057 2011 Genome-wide association study identifies new prostate cancer susceptibility loci.
17045265 2006 In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va.
16415175 2006 High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15517821 2004 Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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