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PMEL Gene

protein-coding   GIFtS: 49
GCID: GC12M056352

Premelanosome Protein

(Previous names: silver (mouse homolog) like, silver homolog (mouse))
(Previous symbols: SIL, SILV)
  See PMEL-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)
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Aliases
Premelanosome Protein1 2 3     P12 3
SILV1 2 3 5     P1002 3
D12S53E2 3 5     Silver (Mouse Homolog) Like1
PMEL172 3 5     Silver Homolog (Mouse)1
SIL1 2     ME202
Melanocyte Protein Pmel 172 3     SI2
Melanocytes Lineage-Specific Antigen GP1002 3     gp1002
Melanoma-Associated ME20 Antigen2 3     Melanocyte Protein Mel 172
Silver Locus Protein Homolog2 3     Melanocyte Protein PMEL2
ME20-M2 3     Melanosomal Matrix Protein172
ME20M2 3     Silver, Mouse, Homolog Of2

External Ids:    HGNC: 108801   Entrez Gene: 64902   Ensembl: ENSG000001856647   OMIM: 1555505   UniProtKB: P409673   

Export aliases for PMEL gene to outside databases

Previous GC identifer: GC12M056350


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PMEL Gene:
This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in
melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the
structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that
define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of
prosttranslational processing and modification that is essential to the proper functioning of the protein. A
secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a
melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. (provided by RefSeq,
Jan 2011)

GeneCards Summary for PMEL Gene:
PMEL (premelanosome protein) is a protein-coding gene. Diseases associated with PMEL include halo nevi, and juvenile xanthogranuloma. An important paralog of this gene is GPNMB.

UniProtKB/Swiss-Prot: PMEL_HUMAN, P40967
Function: Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from
stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the
vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could
protect tumor cells from antibody mediated immunity

Gene Wiki entry for PMEL (SILV) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PMEL
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PMEL promoter sequence
   Search Chromatin IP Primers for PMEL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PMEL


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

Entrez Gene cytogenetic band: 12q13-q14   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13-q14

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M056352:  view genomic region     (about GC identifiers)

Start:
56,347,889 bp from pter      End:
56,367,101 bp from pter
Size:
19,213 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PMEL_HUMAN, P40967 (See protein sequence)
Recommended Name: Melanocyte protein PMEL precursor  
Size: 661 amino acids; 70255 Da
Subunit: Heterooligomer; disulfide-linked heterooligomers of M-alpha and M-beta. Interacts with MLANA
Sequence caution: Sequence=AAA35930.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA35930.1; Type=Frameshift; Positions=642;
4 PDB 3D structures from and Proteopedia for PMEL:
1TVB (3D)        1TVH (3D)        3CC5 (3D)        4IS6 (3D)    
Secondary accessions: B3KS57 B7Z6D7 Q12763 Q14448 Q14817 Q16565
Alternative splicing: 5 isoforms:  P40967-1   P40967-2   P40967-3   P40967-4   P40967-5   

Explore the universe of human proteins at neXtProt for PMEL: NX_P40967

Explore proteomics data for PMEL at MOPED

Post-translational modifications: 

  • A small amount of P1/P100 (major form) undergoes glycosylation to yield P2/P120 (minor form). P2 is cleaved by a
    furin-like proprotein convertase (PC) in a pH-dependent manner in a post-Golgi, prelysosomal compartment into two
    disulfide-linked subunits: a large lumenal subunit, M-alpha/ME20-S, and an integral membrane subunit, M-beta.
    Despite cleavage, only a small fraction of M-alpha is secreted, whereas most M-alpha and M-beta remain associated
    with each other intracellularly. M-alpha is further processed to M-alpha N and M-alpha C. M-alpha C further
    undergoes processing to yield M-alpha C1 and M-alpha C3 (M-alpha C2 in the case of PMEL17-is or PMEL17-ls).
    Formation of intralumenal fibrils in the melanosomes requires the formation of M-alpha that becomes incorporated
    into the fibrils. Stage II melanosomes harbor only Golgi-modified Pmel17 fragments that are derived from M-alpha
    and that bear sialylated O-linked oligosaccharides1
  • N-glycosylated. O-glycosylated; contains sialic acid1
  • Glycosylation2 at Asn81, Asn106, Asn111, Asn321, Asn568
  • Modification sites at PhosphoSitePlus

  • See PMEL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186982.1  NP_001186983.1  NP_008859.1  

    ENSEMBL proteins: 
     ENSP00000402758   ENSP00000449690   ENSP00000450036   ENSP00000448828   ENSP00000447374  
     ENSP00000448029   ENSP00000449520   ENSP00000447732   ENSP00000448849   ENSP00000446662  
     ENSP00000446633   ENSP00000448871   ENSP00000353940   ENSP00000438695   ENSP00000445005  

    PMEL Human Recombinant Protein Products:

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    Novus Biologicals PMEL Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PMEL 

     
    antibodies-online proteins for PMEL (5 products) 

     
    antibodies-online peptides for PMEL

    PMEL Antibody Products:

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    antibodies-online antibodies for PMEL (30 products) 

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    antibodies-online kits for PMEL (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000601 PKD_dom
     IPR022409 PKD/Chitinase_dom

    Graphical View of Domain Structure for InterPro Entry P40967

    ProtoNet protein and cluster: P40967

    1 Blocks protein domain: IPB000601 PKD

    UniProtKB/Swiss-Prot: PMEL_HUMAN, P40967
    Domain: The RPT domain is essential for the generation of the fibrillar matrix of melanosomes
    Domain: The lumenal domain is necessary for correct processing and trafficking to melanosomes
    Similarity: Belongs to the PMEL/NMB family
    Similarity: Contains 1 PKD domain


    Find genes that share domains with PMEL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PMEL_HUMAN, P40967
    Function: Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from
    stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the
    vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could
    protect tumor cells from antibody mediated immunity

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15695812
         
    Find genes that share ontologies with PMEL           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pmel):
     hematopoietic system  homeostasis/metabolism  integument  no phenotypic analysis  pigmentation 
     vision/eye 

    Find genes that share phenotypes with PMEL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pmeltm1.1Sson for PMEL

       genOway: Develop your customized and physiologically relevant rodent model for PMEL

    miRNA
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    miRTarBase miRNAs that target PMEL:
    hsa-mir-335-5p (MIRT017320)

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    1 qRT-PCR Assays for microRNA that regulate PMEL:
    hsa-miR-205*
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMEL

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PMEL_HUMAN, P40967: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus.
    Melanosome. Endosome, multivesicular body. Note=Identified by mass spectrometry in melanosome fractions from
    stage I to stage IV. Localizes predominantly to intralumenal vesicles (ILVs) within multivesicular bodies.
    Associates with ILVs found within the lumen of premelanosomes and melanosomes and particularly in compartments
    that serve as precursors to the striated stage II premelanosomes
    PMEL_HUMAN, P40967: M-alpha: Secreted

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005789endoplasmic reticulum membrane IDA15695812
    GO:0005794Golgi apparatus IDA15695812
    GO:0005886plasma membrane TAS8179825
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PMEL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including PMEL: 
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PMEL

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032438melanosome organization IDA11694580
    GO:0042438melanin biosynthetic process IEA--

    Find genes that share ontologies with PMEL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PMEL

    3 Novoseek inferred chemical compound relationships for PMEL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopachrome 71.2 5 15695812 (1), 9862732 (1), 11549113 (1), 11277492 (1)
    hemocyanin 52.5 4 14997347 (1), 16331519 (1), 16110035 (1), 11522640 (1)
    silver 12.6 10 16760433 (4), 10841034 (3), 15096515 (1), 15632015 (1)



    Find genes that share compounds with PMEL           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PMEL gene (3 alternative transcripts): 
    NM_001200053.1  NM_001200054.1  NM_006928.4  

    Unigene Cluster for PMEL:

    Premelanosome protein
    Hs.95972  [show with all ESTs]
    Unigene Representative Sequence: AK092881
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000449260 ENST00000552882(uc010spx.2) ENST00000550464 ENST00000548747(uc001sir.3)
    ENST00000548493(uc001sip.3) ENST00000550447 ENST00000549564 ENST00000549404
    ENST00000550762 ENST00000548803 ENST00000547137 ENST00000546543 ENST00000556802
    ENST00000548689 ENST00000550590 ENST00000549430 ENST00000549418 ENST00000549233

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    hsa-miR-205*
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    Additional mRNA sequence: 

    AK092881.1 AK300150.1 BC001414.2 BT007202.1 M32295.1 M77348.1 S73003.1 U01874.1 

    18 DOTS entries:

    DT.100033715  DT.95214910  DT.100787523  DT.121208013  DT.121208065  DT.102830708  DT.121208081  DT.95214901 
    DT.40120902  DT.92451153  DT.121208082  DT.100033705  DT.100787521  DT.92451162  DT.100033707  DT.121207958 
    DT.75102552  DT.97854975 

    Selected AceView cDNA sequences (see all 685):

    AU124885 CA389877 BQ675984 CA392608 BQ683836 BX110017 BU838232 BE349137 
    BE728980 BQ683822 BQ678690 BQ892929 BQ440508 BU168539 BU838924 BQ683587 
    BQ677273 BU174481 BM708487 BE349174 CA487930 BG760391 BQ679164 BQ878566 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PMEL (see all 17)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a ·
    SP1:        -                                   -                       -                                                                 -                     
    SP2:                                            -                       -                                                                 -                     
    SP3:                                            -                       -                                                                 -                     
    SP4:                                                                                                                                      -                     
    SP5:                                -           -                       -     -     -     -     -     -     -     -     -     -     -     -     -     -         

    ExUns: 13b ^ 14 ^ 15a · 15b · 15c ^ 16
    SP1:              -                     
    SP2:              -                     
    SP3:                                    
    SP4:              -                     
    SP5:              -                     


    ECgene alternative splicing isoforms for PMEL

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PMEL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGGTCAAG
    PMEL Expression
    About this image


    PMEL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Melanocytes (Integumentary System)    fully expand to see all 4 entries
             Melanocytes-like cells
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Surface Ectoderm Cells Surface Ectoderm
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Optic Vesicle
             Photoreceptor-like cells
     
     Surface Ectoderm (Integumentary System)    fully expand to see all 2 entries
             Surface Ectoderm Cells Surface Ectoderm
             Surface Ectoderm
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Photoreceptor-like cells
    PMEL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PMEL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.95972

    UniProtKB/Swiss-Prot: PMEL_HUMAN, P40967
    Tissue specificity: Preferentially expressed in melanomas. Some expression was found in dysplastic nevi. Not found
    in normal tissues nor in carcinomas. Normally expressed at low levels in quiescent adult melanocytes but
    overexpressed by proliferating neonatal melanocytes and during tumor growth

        Pathway & Disease-focused RT2 Profiler PCR Array including PMEL: 
              Terminal Differentiation Markers in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMEL

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PMEL gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pmel1 , 5 premelanosome protein1, 5 83.81(n)1
    79.81(a)1
      10 (77.13 cM)5
    204311  NM_021882.41  NP_068682.21 
     1287062585 
    chicken
    (Gallus gallus)
    Aves PMEL1 premelanosome protein 54.76(n)
    46.27(a)
      396007  NM_205112.2  NP_990443.2 
    lizard
    (Anolis carolinensis)
    Reptilia PMEL6
    premelanosome protein
    35(a)
    1 ↔ 1
    GL343198.1(3338818-3364810)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pmel1 premelanosome protein 53.75(n)
    46.41(a)
      447954  XM_004911879.1  XP_004911936.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pmela1 premelanosome protein a 52.91(n)
    43.53(a)
      321239  NM_001045330.1  NP_001038795.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PMEL gene
    GPNMB2  
    1 SIMAP similar gene for PMEL using alignment to 11 protein entries:     PMEL_HUMAN (see all proteins):
    GPNMB

    Find genes that share paralogs with PMEL           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for PMEL (see all 415)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003422631,2
    --56181316(+) CCAAAA/GTATCA 3 -- ds50010--------
    rs1997679621,2
    C--56181359(+) CAGATC/GAAGAT 3 -- ds50010--------
    rs765265731,2
    C--56181465(+) CAAGCC/TAGCCT 3 -- ds50010--------
    rs558217441,2
    C--56181542(+) CCAGCC/G/TTGGGG 3 -- ds50010--------
    rs802249281,2
    C--56181719(+) TCTTTC/TATACC 3 -- ds50010--------
    rs1897783591,2
    --56181790(+) TGAGTA/GTTTAT 3 -- ut310--------
    rs10522061,2
    C,F,A,H--56181916(-) GAGAAT/CAGCCC 6 /N syn131Minor allele frequency- C:0.25EA NA NS WA CSA EU 9738
    rs1821370391,2
    C--56182031(+) TATTGA/GGAGAA 3 -- int10--------
    rs1891405841,2
    C--56182055(+) TAGCAA/GTGGAC 3 -- int10--------
    rs1463873521,2
    --56182112(+) TCCCAC/GTCTGC 3 -- int10--------

    HapMap Linkage Disequilibrium report for PMEL (56347889 - 56367101 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PMEL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819836CNV Loss19587683
    nsv832424CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PMEL
    DNA2.0 Custom Variant and Variant Library Synthesis for PMEL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 155550    OMIM disorders: --

    3 diseases for PMEL:    
    About MalaCards
    halo nevi    juvenile xanthogranuloma    melanoma


    Find genes that share disorders with PMEL           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PMEL gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 88 221 8624261 (4), 19017974 (4), 8941877 (3), 11169510 (3) (see all 99)
    metastatic melanoma 85.1 21 9862627 (2), 9456433 (1), 12826605 (1), 16651452 (1) (see all 19)
    vitiligo 74.8 16 12925214 (4), 9844040 (3), 11511311 (2), 16778827 (1) (see all 8)
    melanoma b16 71.4 13 9101410 (3), 10566900 (1), 18157006 (1), 8543823 (1) (see all 9)
    tumors 58 55 10923004 (2), 14997347 (2), 12204064 (1), 14676632 (1) (see all 46)
    microphthalmia 57.5 5 12204064 (1), 11176068 (1), 15731577 (1), 12692260 (1) (see all 5)
    nevi melanocytic 56.3 1 10871066 (1)
    nevi 53.9 9 12360050 (2), 12717252 (1), 16640539 (1), 15141316 (1) (see all 5)
    cancer 43.1 12 9650089 (1), 11169510 (1), 8683899 (1), 17803450 (1) (see all 13)
    juvenile xanthogranuloma 42.1 1 10871066 (1)


    Export disorders for PMEL 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)
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    PubMed articles for PMEL gene, integrated from 10 sources (see all 289):
    (articles sorted by number of sources associating them with PMEL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization and FISH mapping of human Pmel 17, the putative silver locus. (PubMed id 8739560)1, 2, 3 Kim K.K.... Kwon B.S. (Pigment Cell Res. 1996)
    2. Premelanosome amyloid-like fibrils are composed of only Golgi- processed forms of Pmel17 that have been proteolytically processed in endosomes. (PubMed id 17991747)1, 2, 9 Harper D.C.... Marks M.S. (J. Biol. Chem. 2008)
    3. A novel splice variant of Pmel17 expressed by human melanocytes and melanoma cells lacking some of the internal repeats. (PubMed id 14632201)1, 2, 9 Nichols S.E.... Marks M.S. (J. Invest. Dermatol. 2003)
    4. Molecular characterization of the melanocyte lineage-specific antigen gp100. (PubMed id 7519602)1, 2, 9 Adema G.J.... Figdor C.G. (J. Biol. Chem. 1994)
    5. MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes. (PubMed id 15695812)1, 2, 9 Hoashi T....Hearing V.J. (J. Biol. Chem. 2005)
    6. Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment. (PubMed id 15096515)1, 2, 9 Yasumoto K.-I.... Hearing V.J. (J. Biol. Chem. 2004)
    7. Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis. (PubMed id 12732614)1, 2, 9 Berson J.F.... Marks M.S. (J. Cell Biol. 2003)
    8. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    9. The repeat domain of the melanosomal matrix protein PMEL17/GP100 is required for the formation of organellar fibers. (PubMed id 16682408)1, 2 Hoashi T....Hearing V.J. (J. Biol. Chem. 2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 6490 HGNC: 10880 AceView: SILV Ensembl:ENSG00000185664 euGenes: HUgn6490
    ECgene: PMEL H-InvDB: PMEL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PMEL Pharmacogenomics, SNPs, Pathways

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

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



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