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Aliases for MLPH Gene

Aliases for MLPH Gene

  • Melanophilin 2 3
  • Slp Homolog Lacking C2 Domains A 3 4
  • Synaptotagmin-Like Protein 2a 3 4
  • Exophilin-3 3 4
  • SLAC2-A 3 4
  • SLAC2A 4

External Ids for MLPH Gene

Summaries for MLPH Gene

Entrez Gene Summary for MLPH Gene

  • 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. 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. 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. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

GeneCards Summary for MLPH Gene

MLPH (Melanophilin) is a Protein Coding gene. Diseases associated with MLPH include griscelli syndrome, type 3 and piebaldism. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include actin binding and microtubule plus-end binding. An important paralog of this gene is MYRIP.

UniProtKB/Swiss-Prot for MLPH Gene

  • Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.

Gene Wiki entry for MLPH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLPH Gene

Genomics for MLPH Gene

Genomic Location for MLPH Gene

Start:
237,485,428 bp from pter
End:
237,555,318 bp from pter
Size:
69,891 bases
Orientation:
Plus strand

Genomic View for MLPH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MLPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLPH Gene

Regulatory Elements for MLPH Gene

Proteins for MLPH Gene

  • Protein details for MLPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV36-MELPH_HUMAN
    Recommended name:
    Melanophilin
    Protein Accession:
    Q9BV36
    Secondary Accessions:
    • B3KSS2
    • B4DKW7
    • G5E9G5
    • Q9HA71

    Protein attributes for MLPH Gene

    Size:
    600 amino acids
    Molecular mass:
    65949 Da
    Quaternary structure:
    • Binds RAB27A that has been activated by GTP-binding via its N-terminus. Binds MYO5A via its C-terminal coiled coil domain

    Alternative splice isoforms for MLPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLPH Gene

Proteomics data for MLPH Gene at MOPED

Post-translational modifications for MLPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MLPH Gene

Domains for MLPH Gene

Protein Domains for MLPH Gene

UniProtKB/Swiss-Prot:

MELPH_HUMAN
Domain:
  • Contains 1 RabBD (Rab-binding) domain.:
    • Q9BV36
Similarity:
  • Contains 1 FYVE-type zinc finger.:
    • Q9BV36
genes like me logo Genes that share domains with MLPH: view

No data available for Gene Families for MLPH Gene

Function for MLPH Gene

Molecular function for MLPH Gene

UniProtKB/Swiss-Prot Function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.

Gene Ontology (GO) - Molecular Function for MLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 12897212
GO:0017022 myosin binding --
GO:0017137 Rab GTPase binding IPI 15357836
GO:0031489 myosin V binding IEA --
genes like me logo Genes that share ontologies with MLPH: view
genes like me logo Genes that share phenotypes with MLPH: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MLPH Gene

Localization for MLPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLPH Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MLPH Gene COMPARTMENTS Subcellular localization image for MLPH gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2
lysosome 2
vacuole 1

Gene Ontology (GO) - Cellular Components for MLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005815 microtubule organizing center IEA --
GO:0015629 actin cytoskeleton --
GO:0030425 dendrite IDA 15357836
GO:0030864 cortical actin cytoskeleton IEA --
genes like me logo Genes that share ontologies with MLPH: view

Pathways for MLPH Gene

genes like me logo Genes that share pathways with MLPH: view

Pathways by source for MLPH Gene

Gene Ontology (GO) - Biological Process for MLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0006886 intracellular protein transport --
GO:0030318 melanocyte differentiation IEA --
GO:0032400 melanosome localization IEA --
GO:0043473 pigmentation --
genes like me logo Genes that share ontologies with MLPH: view

Compounds for MLPH Gene

(2) HMDB Compounds for MLPH Gene

Compound Synonyms Cas Number PubMed IDs
Aldosterone
  • (+)-Aldosterone
52-39-1
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with MLPH: view

Transcripts for MLPH Gene

Unigene Clusters for MLPH Gene

Melanophilin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MLPH Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - -
SP5: - - -
SP6: - - - -
SP7:
SP8: - - - - - - - -
SP9: -
SP10: - - - - - - - -
SP11: -
SP12: - - - - - -
SP13: -
SP14: - - - - -
SP15: - - - -
SP16: - -
SP17: -
SP18:
SP19:
SP20: - - - - -
SP21: -
SP22:

ExUns: 16a · 16b · 16c · 16d ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - -
SP7: - - -
SP8:
SP9: - - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - -
SP18:
SP19: - -
SP20:
SP21:
SP22: -

Relevant External Links for MLPH Gene

GeneLoc Exon Structure for
MLPH
ECgene alternative splicing isoforms for
MLPH

Expression for MLPH Gene

mRNA expression in normal human tissues for MLPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MLPH Gene

This gene is overexpressed in Prostate (7.2), Minor Salivary Gland (6.8), and Stomach (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MLPH Gene

SOURCE GeneReport for Unigene cluster for MLPH Gene Hs.102406

genes like me logo Genes that share expressions with MLPH: view

Orthologs for MLPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for MLPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLPH 36
  • 98.29 (n)
  • 97.14 (a)
MLPH 37
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MLPH 36
  • 76.1 (n)
  • 64.67 (a)
MLPH 37
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLPH 36
  • 76.03 (n)
  • 66.01 (a)
MLPH 37
  • 58 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mlph 36
  • 73.12 (n)
  • 66.1 (a)
Mlph 16
Mlph 37
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLPH 37
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLPH 37
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlph 36
  • 73.57 (n)
  • 66.78 (a)
chicken
(Gallus gallus)
Aves MLPH 37
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLPH 37
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC557015 36
  • 50.5 (n)
  • 40.64 (a)
mlpha 37
  • 34 (a)
OneToMany
mlphb 37
  • 31 (a)
OneToMany
Species with no ortholog for MLPH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MLPH Gene

ENSEMBL:
Gene Tree for MLPH (if available)
TreeFam:
Gene Tree for MLPH (if available)

Paralogs for MLPH Gene

Paralogs for MLPH Gene

genes like me logo Genes that share paralogs with MLPH: view

Variants for MLPH Gene

Sequence variations from dbSNP and Humsavar for MLPH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs8260 -- 237,553,681(+) CCACT(A/G)TACAC utr-variant-3-prime, nc-transcript-variant
rs729388 -- 237,516,361(+) AGGAG(C/G)TCAGT intron-variant
rs729389 -- 237,516,475(+) GCTAT(A/C/G)AGCCT intron-variant
rs867306 -- 237,545,511(+) CACAC(A/C)CTGAC intron-variant, nc-transcript-variant, missense, reference
rs867307 -- 237,545,794(+) TAGCT(C/T)TAAAT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MLPH Gene

Variant ID Type Subtype PubMed ID
nsv876052 CNV Gain 21882294
nsv876053 CNV Gain 21882294
esv2674992 CNV Deletion 23128226
esv22555 CNV Loss 19812545
nsv876054 CNV Gain 21882294
esv2111392 CNV Deletion 18987734
esv1758716 CNV Deletion 17803354
nsv876055 CNV Loss 21882294
nsv3228 CNV Insertion 18451855
nsv511184 CNV Loss 21212237
esv2657165 CNV Deletion 23128226
esv2348994 CNV Deletion 18987734
esv2721723 CNV Deletion 23290073
nsv820752 CNV Deletion 20802225
esv29730 CNV Gain+Loss 19812545
nsv511845 CNV Loss 21212237
esv1008822 CNV Gain 20482838
esv2721724 CNV Deletion 23290073
esv2721725 CNV Deletion 23290073
esv2721726 CNV Deletion 23290073
esv2653782 CNV Deletion 19546169
esv1430875 CNV Deletion 17803354
esv1702045 CNV Deletion 17803354
esv1466648 CNV Deletion 17803354
esv2721727 CNV Deletion 23290073
esv1581868 CNV Deletion 17803354
esv2721728 CNV Deletion 23290073

Relevant External Links for MLPH Gene

HapMap Linkage Disequilibrium report
MLPH
Human Gene Mutation Database (HGMD)
MLPH
Locus Specific Mutation Databases (LSDB)
MLPH

Disorders for MLPH Gene

(1) OMIM Diseases for MLPH Gene (606526)

UniProtKB/Swiss-Prot

MELPH_HUMAN
  • 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 mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MLPH Gene

(1) Novoseek inferred disease relationships for MLPH Gene

Disease -log(P) Hits PubMed IDs
piebaldism 87.1 1

Relevant External Links for MLPH

Genetic Association Database (GAD)
MLPH
Human Genome Epidemiology (HuGE) Navigator
MLPH
genes like me logo Genes that share disorders with MLPH: view

Publications for MLPH Gene

  1. Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (PMID: 12531900) Bahadoran P. … Ballotti R. (J. Biol. Chem. 2003) 3 23
  2. Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PMID: 12578829) Fukuda M. (J. Biol. Chem. 2003) 3 23
  3. Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain. (PMID: 12603861) Westbroek W. … Naeyaert J.M. (J. Invest. Dermatol. 2003) 3 23
  4. Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. (PMID: 15357836) Westbroek W. … Naeyaert J.M. (Pigment Cell Res. 2004) 3 23
  5. In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va. (PMID: 17045265) Wu X. … Hammer J.A. (FEBS Lett. 2006) 3 23

Products for MLPH Gene

Sources for MLPH Gene

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