MLPH (melanophilin)

2018-11-01  

Identity

HGNC
LOCATION
2q37.3
LOCUSID
ALIAS
SLAC2-A
FUSION GENES

Other Information

Locus ID:

NCBI: 79083
MIM: 606526
HGNC: 29643
Ensembl: ENSG00000115648

Variants:

dbSNP: 79083
ClinVar: 79083
TCGA: ENSG00000115648
COSMIC: MLPH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115648ENST00000264605Q9BV36
ENSG00000115648ENST00000264605A0A024R492
ENSG00000115648ENST00000338530Q9BV36
ENSG00000115648ENST00000338530A0A024R4D3
ENSG00000115648ENST00000409373Q9BV36
ENSG00000115648ENST00000410032Q9BV36
ENSG00000115648ENST00000415753H7C371
ENSG00000115648ENST00000422695C9JKV5
ENSG00000115648ENST00000429898C9JI01
ENSG00000115648ENST00000432475H7C052
ENSG00000115648ENST00000434770H7C190
ENSG00000115648ENST00000436965H7C2D8
ENSG00000115648ENST00000437893H7C3K9

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
119809082002A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport.109
118567272002Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport.100
118567272002Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport.100
128972122003Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).56
122210802002Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin.49
120624442002Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions.41
121891422002Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A.25
164151752006High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.17
264114522016Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.9
270168012016A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.8

Citation

Dessen P

MLPH (melanophilin)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57673/mlph