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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

Previous GeneCards Identifiers for MLPH Gene

  • GC02P236433
  • GC02P237077
  • GC02P238411
  • GC02P238682
  • GC02P238177
  • GC02P238060
  • GC02P230187

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 griscelli syndrome. 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 myosin 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

Regulatory Elements for MLPH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MLPH Gene

Chromosome:
2
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

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 & Families for MLPH Gene

Protein Domains for MLPH Gene

Suggested Antigen Peptide Sequences for MLPH Gene

Graphical View of Domain Structure for InterPro Entry

Q9BV36

UniProtKB/Swiss-Prot:

MELPH_HUMAN :
  • Contains 1 RabBD (Rab-binding) domain.
  • Contains 1 FYVE-type zinc finger.
Domain:
  • Contains 1 RabBD (Rab-binding) domain.
Similarity:
  • Contains 1 FYVE-type zinc finger.
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:0005515 protein binding IPI 12897212
GO:0017137 Rab GTPase binding IPI 15357836
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MLPH: view
genes like me logo Genes that share phenotypes with MLPH: view

miRNA for MLPH Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MLPH

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
extracellular 5
cytoskeleton 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0030425 dendrite IDA 15357836
GO:0048471 perinuclear region of cytoplasm IDA 15357836
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with MLPH: view

Pathways & Interactions 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:0006886 intracellular protein transport IEA --
genes like me logo Genes that share ontologies with MLPH: view

No data available for SIGNOR curated interactions for MLPH Gene

Drugs & Compounds for MLPH Gene

(2) Drugs for MLPH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aldosterone Experimental Pharma Agonist 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with MLPH: view

Transcripts for MLPH Gene

Unigene Clusters for MLPH Gene

Melanophilin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MLPH

Flow Cytometry Products

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 (x7.2), Minor Salivary Gland (x6.8), and Stomach (x4.7).

Protein differential expression in normal tissues from HIPED for MLPH Gene

This gene is overexpressed in Nasal epithelium (32.0) and Stomach (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MLPH: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MLPH Gene

Orthologs for MLPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for MLPH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MLPH 35
  • 76.1 (n)
  • 64.67 (a)
MLPH 36
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLPH 35
  • 76.03 (n)
  • 66.01 (a)
MLPH 36
  • 58 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mlph 35
  • 73.12 (n)
  • 66.1 (a)
Mlph 16
Mlph 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MLPH 35
  • 98.29 (n)
  • 97.14 (a)
MLPH 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlph 35
  • 73.57 (n)
  • 66.78 (a)
oppossum
(Monodelphis domestica)
Mammalia MLPH 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLPH 36
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLPH 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLPH 36
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC557015 35
  • 50.5 (n)
  • 40.64 (a)
mlpha 36
  • 34 (a)
OneToMany
mlphb 36
  • 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, downstream-variant-500B
rs729388 -- 237,516,361(+) AGGAG(C/G)TCAGT intron-variant, utr-variant-5-prime
rs729389 -- 237,516,475(+) GCTAT(A/C/G)AGCCT intron-variant, utr-variant-5-prime
rs938997 -- 237,530,218(+) CAACA(A/G)GAAGT intron-variant
rs1044485 -- 237,553,809(+) GCCCC(A/C)CCATC utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B

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

Variation tolerance for MLPH Gene

Residual Variation Intolerance Score: 98.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MLPH Gene

HapMap Linkage Disequilibrium report
MLPH
Human Gene Mutation Database (HGMD)
MLPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLPH Gene

Disorders for MLPH Gene

MalaCards: The human disease database

(6) MalaCards diseases for MLPH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
griscelli syndrome, type 3
  • griscelli syndrome type 3
griscelli syndrome
  • griscelli disease
osteogenesis imperfecta, type xv
  • osteogenesis imperfecta 15
griscelli syndrome, type 2
  • griscelli syndrome type 2
apocrine adenocarcinoma
  • apocrine carcinoma
- elite association
Search MLPH in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MLPH

Genetic Association Database (GAD)
MLPH
Human Genome Epidemiology (HuGE) Navigator
MLPH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLPH
genes like me logo Genes that share disorders with MLPH: view

No data available for Genatlas for MLPH Gene

Publications for MLPH Gene

  1. Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. (PMID: 20370853) Ohbayashi N. … Parvaneh N. (Pigment Cell Melanoma Res 2010) 23 67
  2. Griscelli syndrome: a model system to study vesicular trafficking. (PMID: 19243575) Van Gele M. … Lambert J. (Pigment Cell Melanoma Res 2009) 23 67
  3. Myrip uses distinct domains in the cellular activation of myosin VA and myosin VIIA in melanosome transport. (PMID: 19317802) Ramalho J.S. … Hume A.N. (Pigment Cell Melanoma Res 2009) 23 67
  4. Physiological factors that regulate skin pigmentation. (PMID: 19449448) Yamaguchi Y. … Hearing V.J. (Biofactors 2009) 23 67
  5. A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. (PMID: 18397837) Westbroek W. … Gahl W.A. (Mol. Genet. Metab. 2008) 23 67

Products for MLPH Gene

Sources for MLPH Gene

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