Melanophilin

MLPH
Identifiers
AliasesMLPH, SLAC2-A, melanophilin
External IDsOMIM: 606526; MGI: 2176380; HomoloGene: 11465; GeneCards: MLPH; OMA:MLPH - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001042467
NM_001281473
NM_001281474
NM_024101

NM_053015

RefSeq (protein)

NP_001035932
NP_001268402
NP_001268403
NP_077006

NP_443748

Location (UCSC)Chr 2: 237.49 – 237.56 MbChr 1: 90.84 – 90.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Melanophilin is a carrier protein which in humans is encoded by the MLPH gene.[5][6] Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115648Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026303Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Matesic LE, Yip R, Reuss AE, Swing DA, O'Sullivan TN, Fletcher CF, Copeland NG, Jenkins NA (August 2001). "Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice". Proc. Natl. Acad. Sci. U.S.A. 98 (18): 10238–43. Bibcode:2001PNAS...9810238M. doi:10.1073/pnas.181336698. PMC 56945. PMID 11504925.
  6. ^ Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC (July 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.