MLPH
entrez
79083
canonical
uniprot
Q9BV36
canonical
ensembl
ENSG00000115648
resolver
ensp
ENSP00000264605
resolver
ensp
ENSP00000341845
resolver
ensp
ENSP00000386338
resolver
ensp
ENSP00000386780
resolver
ensp
ENSP00000542985
resolver
ensp
ENSP00000542986
resolver
ensp
ENSP00000542990
resolver
ensp
ENSP00000705358
resolver
ensp
ENSP00000705363
resolver
ensp
ENSP00000705366
resolver
genesymbol
MLPH
resolver
genesymbol_syn
SLAC2A
resolver
hgnc
HGNC:29643
resolver
uniprot
B3KSS2
resolver
uniprot
B4DKW7
resolver
uniprot
G5E9G5
resolver
uniprot
Q9HA71
resolver
uniprot_entry
MELPH_HUMAN
resolver
uniprot_sec
B3KSS2
resolver
uniprot_sec
B4DKW7
resolver
uniprot_sec
G5E9G5
resolver
uniprot_sec
Q9HA71
resolver
amino_acid_sequence
MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLNETHCARCLQPYQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEWYYEHVKARFKRFGSAKVIRSLHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQPFGSKKKRLLSVHDFDFEGDSDDSTQPQGHSLHLSSVPEARDSPQSLTDESCSEKAAPHKAEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPGGSHRMALGTAAALGSNVIRNEQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISAVECLLTYLENTVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKSVGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAESEVSDIESRIAALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKAMAVPYLLRRKFSNSLKSQGKDDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS
uniprot
proteins
disease_involvement
DISEASE: Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. {ECO:0000269|PubMed:12897212}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. {ECO:0000269|PubMed:12062444}.
uniprot
proteins
mass_dalton
65949
uniprot
proteins
mutagenesis
MUTAGEN 14; /note="E->A: Abolishes RAB27A binding."; /evidence="ECO:0000269|PubMed:12062444"; MUTAGEN 24; /note="R->A: Decreases RAB27A binding."; /evidence="ECO:0000269|PubMed:12062444"; MUTAGEN 32; /note="E->A: Abolishes RAB27A binding."; /evidence="ECO:0000269|PubMed:12062444
uniprot
proteins
pubmed
12062444
uniprot
proteins
pubmed
12897212
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
sequence_length
600
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins