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Aliases for MLPH Gene

Aliases for MLPH Gene

  • Melanophilin 2 3 3 5
  • 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 Osteogenesis Imperfecta, Type Xv. 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

Enhancers for MLPH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F237508 1.6 FANTOM5 Ensembl ENCODE 23.4 +25.8 25808 5.4 ATF1 PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF48 ZNF2 ZNF766 ZNF143 MLPH RNU6-1140P PRLH LOC105373958 RAB17 ENSG00000222022 COL6A3 MIR6811
GH02F237481 1.5 FANTOM5 Ensembl ENCODE 20.8 -2.4 -2403 2.8 HDGF PKNOX1 INSM2 KLF17 SIN3A FEZF1 RAD21 YY1 FOS EGR2 MLPH LRRFIP1 ENSG00000222032 LOC105373955
GH02F237539 1.3 Ensembl ENCODE 21.1 +55.5 55462 2.2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF263 PAF1 MLPH RNU6-1140P PRLH LOC105373958 RAB17 COL6A3 MIR6811
GH02F237455 1 Ensembl ENCODE 22.8 -29.0 -29021 2.0 PKNOX1 MAX YBX1 ZIC2 RELA ZNF366 FOS ZSCAN29 ZNF600 MTA2 MLPH ENSG00000222022 COL6A3 ENSG00000222032 LOC105373955
GH02F237458 1 Ensembl ENCODE 22.7 -25.6 -25569 2.1 ELF3 CTCF ETV1 JUN ZMYM3 ZNF175 ARID4B RAD21 ZNF316 NFE2 MLPH ENSG00000222022 COL6A3 ENSG00000222032 LOC105373955
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MLPH on UCSC Golden Path with GeneCards custom track

Promoters for MLPH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001553352 1772 2001 GTF2F1 ZNF146 SUZ12 SIN3A CHD7 E2F1 CTBP1 POLR2A EZH2 MAZ

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

Genes around MLPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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:0003779 actin binding IBA --
GO:0005515 protein binding IPI 12897212
GO:0017022 myosin binding IBA --
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

Human Phenotype Ontology for MLPH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MLPH Gene

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MLPH gene
Compartment Confidence
extracellular 5
nucleus 3
cytoskeleton 2
cytosol 2
lysosome 1

Gene Ontology (GO) - Cellular Components for MLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0030425 dendrite IDA 15357836
GO:0030864 cortical actin cytoskeleton IBA --
GO:0048471 perinuclear region of cytoplasm IDA 15357836
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 --
GO:0030050 vesicle transport along actin filament IBA --
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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MLPH Gene



NURSA nuclear receptor signaling pathways regulating expression of MLPH Gene:

MLPH

SOURCE GeneReport for Unigene cluster for MLPH Gene:

Hs.102406
genes like me logo Genes that share expression patterns with MLPH: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia MLPH 34 35
  • 98.29 (n)
cow
(Bos Taurus)
Mammalia MLPH 34 35
  • 76.1 (n)
dog
(Canis familiaris)
Mammalia MLPH 34 35
  • 76.03 (n)
rat
(Rattus norvegicus)
Mammalia Mlph 34
  • 73.57 (n)
mouse
(Mus musculus)
Mammalia Mlph 34 16 35
  • 73.12 (n)
oppossum
(Monodelphis domestica)
Mammalia MLPH 35
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLPH 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLPH 35
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLPH 35
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC557015 34
  • 50.5 (n)
mlpha 35
  • 34 (a)
OneToMany
mlphb 35
  • 31 (a)
OneToMany
Species where no ortholog for MLPH was found in the sources mined by GeneCards:
  • 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
rs119473031 Griscelli syndrome 3 (GS3) [MIM:609227], Pathogenic 237,493,529(+) AGGAA(C/T)GGCTA nc-transcript-variant, reference, missense
rs786205551 Likely pathogenic 237,493,530(+) GGAAC(A/G)GCTAG nc-transcript-variant, reference, missense
rs786205641 Likely pathogenic 237,527,482(+) CCATT(-/C)CAAGC intron-variant, nc-transcript-variant, reference, frameshift-variant
rs10165843 -- 237,491,642(+) GATGA(C/T)CAGGG intron-variant
rs10168932 -- 237,522,484(+) GGAGC(A/T)GGGCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2348994 CNV deletion 18987734
esv22555 CNV loss 19812545
esv2111392 CNV deletion 18987734
esv1758716 CNV deletion 17803354
esv1702045 CNV deletion 17803354
esv1581868 CNV deletion 17803354
esv1466648 CNV deletion 17803354
esv1430875 CNV deletion 17803354
esv1008822 CNV gain 20482838
dgv7344n54 CNV gain 21841781
dgv7343n54 CNV loss 21841781
nsv979189 CNV duplication 23825009
nsv953213 CNV deletion 24416366
nsv820752 CNV deletion 20802225
nsv584736 CNV gain+loss 21841781
nsv584732 CNV gain 21841781
nsv584731 CNV loss 21841781
nsv584730 CNV loss 21841781
nsv584729 CNV loss 21841781
nsv584728 CNV loss 21841781
nsv511845 CNV loss 21212237
nsv511184 CNV loss 21212237
nsv475195 CNV novel sequence insertion 20440878
nsv3228 CNV insertion 18451855
nsv1126581 CNV deletion 24896259
nsv1122021 CNV deletion 24896259
nsv1112781 CNV deletion 24896259
nsv1071659 CNV deletion 25765185
nsv1010093 CNV gain 25217958
nsv1000252 CNV loss 25217958
esv3434023 CNV duplication 20981092
esv29730 CNV gain+loss 19812545
esv2721728 CNV deletion 23290073
esv2721727 CNV deletion 23290073
esv2721726 CNV deletion 23290073
esv2721725 CNV deletion 23290073
esv2721724 CNV deletion 23290073
esv2721723 CNV deletion 23290073
esv2674992 CNV deletion 23128226
esv2657165 CNV deletion 23128226
esv2653782 CNV deletion 19546169

Variation tolerance for MLPH Gene

Residual Variation Intolerance Score: 98.4% 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

Human Gene Mutation Database (HGMD)
MLPH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLPH

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

Disorders for MLPH Gene

MalaCards: The human disease database

(5) 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
osteogenesis imperfecta, type xv
  • osteogenesis imperfecta type 15
griscelli syndrome, type 2
  • griscelli syndrome
piebaldism
  • piebald trait
apocrine adenocarcinoma
  • apocrine carcinoma
- elite association - COSMIC cancer census association via MalaCards
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. Genome-wide association study identifies new prostate cancer susceptibility loci. (PMID: 21743057) Schumacher F.R. … Kraft P. (Hum. Mol. Genet. 2011) 3 46 64
  2. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. (PMID: 16415175) Park J.W. … Beaty T.H. (J. Med. Genet. 2006) 3 46 64
  3. In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va. (PMID: 17045265) Wu X. … Hammer J.A. (FEBS Lett. 2006) 3 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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 22 64

Products for MLPH Gene

Sources for MLPH Gene

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