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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MLPH Gene

protein-coding   GIFtS: 61
GCID: GC02P238411

Melanophilin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
melanophilin1 2     exophilin-32
Slp Homolog Lacking C2 Domains A2 3     Exophilin-33
Synaptotagmin-Like Protein 2a2 3     SLAC2A3
SLAC2-A2     SlaC2-a3

External Ids:    HGNC: 296431   Entrez Gene: 790832   Ensembl: ENSG000001156487   OMIM: 6065265   UniProtKB: Q9BV363   

Export aliases for MLPH gene to outside databases

Previous GC identifers: GC02P236433 GC02P237077 GC02P238682 GC02P238177 GC02P238060 GC02P230187


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cauda equina syndrome. GO annotations related to this gene include microtubule plus-end binding and actin binding. An important paralog of this gene is MYRIP.

UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36
Function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A
and the motor protein MYO5A

Gene Wiki entry for MLPH (Melanophilin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005120.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MLPH gene promoter:
         Max1   Max   Pax-5   Evi-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMLPH promoter sequence
   Search SABiosciences Chromatin IP Primers for MLPH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLPH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.2

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P238411:  view genomic region     (about GC identifiers)

Start:
238,394,071 bp from pter      End:
238,463,961 bp from pter
Size:
69,891 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36 (See protein sequence)
Recommended Name: Melanophilin  
Size: 600 amino acids; 65949 Da
Subunit: Binds RAB27A that has been activated by GTP-binding via its N-terminus. Binds MYO5A via its C-terminal
coiled coil domain
Subcellular location: Cytoplasm
Secondary accessions: Q9HA71
Alternative splicing: 3 isoforms:  Q9BV36-1   Q9BV36-2   Q9BV36-3   

Explore the universe of human proteins at neXtProt for MLPH: NX_Q9BV36

Explore proteomics data for MLPH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BV36

  • MLPH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MLPH Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001035932.1  NP_001268402.1  NP_001268403.1  NP_077006.1  

    ENSEMBL proteins: 
     ENSP00000409170   ENSP00000403909   ENSP00000386338   ENSP00000264605   ENSP00000341845  
     ENSP00000386780   ENSP00000412438   ENSP00000405337   ENSP00000409897   ENSP00000393010  
     ENSP00000399081   ENSP00000414849  

    Human Recombinant Protein Products for MLPH: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MLPH 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0015629actin cytoskeleton ----
    GO:0030864cortical actin cytoskeleton IEA--
    GO:0035371microtubule plus end IEA--

    MLPH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR006788 Myrip/Melanophilin
     IPR013083 Znf_RING/FYVE/PHD
     IPR010911 Rab-bd_domain
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry Q9BV36

    ProtoNet protein and cluster: Q9BV36

    1 Blocks protein domain: IPB000306 Zn-finger

    UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 RabBD (Rab-binding) domain


    MLPH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MELPH_HUMAN, Q9BV36
    Function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A
    and the motor protein MYO5A

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
    GO:0017022myosin binding ----
    GO:0017137Rab GTPase binding IEA--
         
    MLPH for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mlph):
     homeostasis/metabolism  immune system  integument  mortality/aging  pigmentation 
     vision/eye 

    MLPH for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MLPH 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MLPH 
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLPH


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MLPH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Deregulation of Rab and Rab Effector Genes in Bladder Cancer
    Deregulation of Rab and Rab Effector Genes in Bladder Cancer


    1 BioSystems Pathway for MLPH
        Deregulation of Rab and Rab Effector Genes in Bladder Cancer



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MLPH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for MLPH (Q9BV362, 3 ENSP000002646054) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB27AP511592, 3, ENSP000003377614MINT-3388073 MINT-3388107 I2D: score=6 STRING: ENSP00000337761
    MYO5AQ9Y4I12, 3, ENSP000003821774MINT-3388073 I2D: score=4 STRING: ENSP00000382177
    RAB27BO001943, ENSP000002620944I2D: score=3 STRING: ENSP00000262094
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    RAB10P610263, ENSP000002647104I2D: score=1 STRING: ENSP00000264710
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting IEA--
    GO:0006886intracellular protein transport ----
    GO:0030318melanocyte differentiation IEA--
    GO:0032400melanosome localization IEA--
    GO:0043473pigmentation ----

    MLPH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MLPH (MELPH)

    2 HMDB Compounds for MLPH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Aldosterone(+)-Aldosterone (see all 22)52-39-117609287
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about MLPH / MELPH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MLPH gene (4 alternative transcripts): 
    NM_001042467.2  NM_001281473.1  NM_001281474.1  NM_024101.6  

    Unigene Cluster for MLPH:

    Melanophilin
    Hs.102406  [show with all ESTs]
    Unigene Representative Sequence: NM_024101
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000422695 ENST00000429898 ENST00000410032 ENST00000264605(uc002vws.3 uc002vwt.3 uc002vwu.3 uc002vwv.3 uc002vww.3 uc002vwx.3)
    ENST00000477222 ENST00000468178(uc010fyt.1) ENST00000338530 ENST00000469619
    ENST00000409373 ENST00000477501 ENST00000495439 ENST00000464123 ENST00000478712
    ENST00000494110 ENST00000437893 ENST00000485956 ENST00000482528 ENST00000436965

    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MLPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLPH
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLPH

    Additional mRNA sequence: 

    AK022207.1 AK094168.1 AK096789.1 AK225381.1 AK292929.1 AK296745.1 AK310821.1 AY358857.1 
    BC001653.2 BC051269.1 

    24/26 DOTS entries (see all 26):

    DT.97794091  DT.120983267  DT.416889  DT.97862582  DT.100029602  DT.95250907  DT.100654074  DT.101979990 
    DT.95153513  DT.95153510  DT.95116603  DT.95153491  DT.97767981  DT.120983279  DT.40108010  DT.95153512 
    DT.91821953  DT.100844345  DT.120983262  DT.95153505  DT.100654073  DT.120983257  DT.91654059  DT.91759416 

    24/310 AceView cDNA sequences (see all 310):

    BP357512 AI086065 AA528058 BG766017 BU155719 CK825001 AI536570 AI273300 
    AA444084 CR597608 AI969710 BM792778 BQ440943 CA488909 AI367634 BG768628 
    AI677774 CB149499 CA307535 CA393087 AA160767 CB158253 AA470765 BU956002 

    GeneLoc Exon Structure

    5/22 Alternative Splicing Database (ASD) splice patterns (SP) for MLPH (see all 22)    About this scheme

    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:                                                                                                                                -                 -     -   

    ExUns: 16a · 16b · 16c · 16d ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c
    SP1:                                            -     -                 -                 -                     
    SP2:                                            -     -                 -                 -                     
    SP3:                                            -     -                 -                 -                     
    SP4:                          -     -           -     -                 -                 -                     
    SP5:                                            -     -                 -                 -                     


    ECgene alternative splicing isoforms for MLPH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MLPH expression in normal human tissues (normalized intensities)      MLPH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGGAATGG
    MLPH Expression
    About this image


    MLPH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Human Cerebellar Astrocytes   
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)
             Human Vertebral Mesenchymal Stem Cells (HVMSC)   
     
     Fibroblast (Uncategorized)
             Human Villous Mesenchymal Fibroblasts (HVMF)   
     
     Uncategorized (Uncategorized)
             PureStem Progenitor ES-199

    See MLPH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MLPH

    SOURCE GeneReport for Unigene cluster: Hs.102406
        SABiosciences Custom PCR Arrays for MLPH
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MLPH gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mlph1 , 5 melanophilin1, 5 72.83(n)1
    66.1(a)1
      1 (45.73 cM)5
    1715311  NM_053015.31  NP_443748.21 
     909150855 
    chicken
    (Gallus gallus)
    Aves MLPH1 melanophilin 60.16(n)
    51.03(a)
      424019  NM_001115080.1  NP_001108552.1 
    lizard
    (Anolis carolinensis)
    Reptilia MLPH6
    melanophilin
    42(a)
    1 ↔ 1
    1(123509924-123655371)
    zebrafish
    (Danio rerio)
    Actinopterygii mlphb1 melanophilin b 53.35(n)
    44.71(a)
      561905  NM_001079679.1  NP_001073147.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MLPH gene
    MYRIP2  
    2 SIMAP similar genes for MLPH using alignment to 12 protein entries:     MELPH_HUMAN (see all proteins):
    MYRIP    SYTL4

    MLPH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2124 SNPs in MLPH are shown (see all 2124)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0187244
    Griscelli syndrome 3 (GS3)4--see VAR_0187242 R W mis40--------
    rs764656131,2
    C,F--238393891(+) GCAGAA/GTCATT 2 -- us2k11Minor allele frequency- G:0.09WA 118
    rs1901898821,2
    --238394027(+) ATATTC/TACCAA 2 -- us2k10--------
    rs756603721,2
    F--238394083(+) CACAAC/TACCCT 2 -- us2k11Minor allele frequency- T:0.01WA 118
    rs802057331,2
    F--238394143(+) TCAGTA/GGAAGA 2 -- us2k11Minor allele frequency- G:0.02WA 118
    rs2000493531,2
    C--238394243(+) TAACC-/CAACACA 2 -- us2k10--------
    rs1929403031,2
    --238394296(+) ATGATC/TGCTTT 2 -- us2k10--------
    rs1475822621,2
    C--238394357(+) TATACG/TCCTTA 2 -- us2k10--------
    rs1846837401,2
    --238394444(+) GCACTA/GAAGTA 2 -- us2k10--------
    rs1420983561,2
    C--238394498(+) CCCTAC/TATCAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MLPH (238394071 - 238463961 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 variations for MLPH (see all 27):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1430875CNV Deletion17803354
    esv1581868CNV Deletion17803354
    esv2657165CNV Deletion23128226
    esv2721725CNV Deletion23290073
    esv2111392CNV Deletion18987734
    esv1758716CNV Deletion17803354
    esv2721724CNV Deletion23290073
    nsv820752CNV Deletion20802225
    esv2674992CNV Deletion23128226
    esv1466648CNV Deletion17803354


    Human Gene Mutation Database (HGMD): MLPH

    Locus Specific Mutation Databases (LSDB): MLPH
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MLPH
    DNA2.0 Custom Variant and Variant Library Synthesis for MLPH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606526   
    OMIM disorders: 609227  
    UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for MLPH:    About MalaCards
    griscelli syndrome type 3    cauda equina syndrome    griscelli syndrome    griscelli syndrome type 2
    piebaldism    autistic disorder    benign meningioma    hemophagocytic lymphohistiocytosis
    albinism    meningioma    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for MLPH:
    Cauda equina syndrome

    MLPH for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MLPH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    piebaldism 87.1 1 15163896 (1)

    Genetic Association Database (GAD): MLPH
    Human Genome Epidemiology (HuGE) Navigator: MLPH (1 document)

    Export disorders for MLPH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MLPH gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with MLPH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study identifies new prostate cancer susceptibility loci. (PubMed id 21743057)1, 4 Schumacher F.R....Kraft P. (2011)
    2. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. (PubMed id 16415175)1, 4 Park J.W....Beaty T.H. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (PubMed id 12897212)1, 2 Menasche G.... de Saint Basile G. (2003)
    6. Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. (PubMed id 12062444)1, 2 Nagashima K....Izumi T. (2002)
    7. A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. (PubMed id 11980908)1, 3 Strom M....Seabra M.C. (2002)
    8. Mutations in Mlph, encoding a member of the Rab effec tor family, cause the melanosome transport defects observed in leaden mice. (PubMed id 11504925)1, 3 Matesic L.E....Jenkins N.A. (2001)
    9. In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va. (PubMed id 17045265)1, 9 Wu X....Hammer J.A. (2006)
    10. Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (PubMed id 12531900)1, 9 Bahadoran P....Ballotti R. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79083 HGNC: 29643 AceView: MLPH Ensembl:ENSG00000115648 euGenes: HUgn79083
    ECgene: MLPH H-InvDB: MLPH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MLPH Pharmacogenomics, SNPs, Pathways
    MLPHbasehttp://bioinf.uta.fi/MLPHbase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MLPH gene:
    Search GeneIP for patents involving MLPH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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