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Melanophilin

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MLPH
Identifiers
AliasesMLPH, SLAC2-A, melanophilin
External IDsOMIM: 606526; MGI: 2176380; HomoloGene: 11465; GeneCards: MLPH; OMA:MLPH - orthologs
Orthologs
SpeciesHumanMouse
Entrez

79083

171531

Ensembl

ENSG00000115648

ENSMUSG00000026303

UniProt

Q9BV36

Q91V27

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.

Function

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va.[7] A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin.[8]

In melanocytic cells MLPH gene expression may be regulated by MITF.[9]

Clinical significance

A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft.

Mutations in melanophilin cause the "dilute" coat color phenotype in dogs[10] and cats.[11] Variation in this gene appears to have been a target for recent natural selection in humans, and it has been hypothesized that this is due to a role in human pigmentation.[12]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115648 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026303 – Ensembl, 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. 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  7. ^ Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T (April 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. ^ "Entrez Gene: MLPH Melanophilin".
  9. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (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.
  10. ^ Drögemüller C, Philipp U, Haase B, Günzel-Apel AR, Leeb T (2007). "A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs". J. Hered. 98 (5): 468–73. doi:10.1093/jhered/esm021. PMID 17519392.
  11. ^ Ishida Y, David VA, Eizirik E, Schäffer AA, Neelam BA, Roelke ME, Hannah SS, O'brien SJ, Menotti-Raymond M (December 2006). "A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat". Genomics. 88 (6): 698–705. doi:10.1016/j.ygeno.2006.06.006. PMID 16860533.
  12. ^ Pickrell JK, Coop G, Novembre J, Kudaravalli S, Li JZ, Absher D, Srinivasan BS, Barsh GS, Myers RM, Feldman MW, Pritchard JK (May 2009). "Signals of recent positive selection in a worldwide sample of human populations". Genome Res. 19 (5): 826–37. doi:10.1101/gr.087577.108. PMC 2675971. PMID 19307593.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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