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PMEL premelanosome protein [ Homo sapiens (human) ]

Gene ID: 6490, updated on 6-Sep-2017
Official Symbol
PMELprovided by HGNC
Official Full Name
premelanosome proteinprovided by HGNC
Primary source
HGNC:HGNC:10880
See related
Ensembl:ENSG00000185664 MIM:155550; Vega:OTTHUMG00000170573
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P1; SI; SIL; ME20; P100; SILV; ME20M; gp100; ME20-M; PMEL17; D12S53E
Summary
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]
Orthologs
Location:
12q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (55954105..55966712, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56347889..56360523, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene PYM homolog 1, exon junction complex associated factor Neighboring gene diacylglycerol kinase alpha Neighboring gene cyclin dependent kinase 2 Neighboring gene RAB13, member RAS oncogene family pseudogene Neighboring gene RAB5B, member RAS oncogene family

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
NHGRI GWA Catalog
Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
developmental pigmentation IBA
Inferred from Biological aspect of Ancestor
more info
 
melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
melanosome organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
melanosome IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
melanocyte protein PMEL
Names
melanocyte protein Pmel 17
melanocyte protein mel 17
melanocytes lineage-specific antigen GP100
melanoma-associated ME20 antigen
melanosomal matrix protein17
silver locus protein homolog
silver, mouse, homolog of

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028086.1 RefSeqGene

    Range
    5001..17608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001200053.1NP_001186982.1  melanocyte protein PMEL isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC025162, AK300150, BC001414, DA035117
    Consensus CDS
    CCDS55833.1
    UniProtKB/Swiss-Prot
    P40967
    Related
    ENSP00000450036.1, OTTHUMP00000244024, ENST00000550464.5, OTTHUMT00000409625
    Conserved Domains (2) summary
    PHA03255
    Location:190357
    PHA03255; BDLF3; Provisional
    pfam00801
    Location:149215
    PKD; PKD domain
  2. NM_001200054.1NP_001186983.1  melanocyte protein PMEL isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001186983.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Pmel17-l).
    Source sequence(s)
    AC025162, BC001414, DA633173, M77348
    Consensus CDS
    CCDS55834.1
    UniProtKB/Swiss-Prot
    P40967
    Related
    ENSP00000402758.2, OTTHUMP00000244022, ENST00000449260.6, OTTHUMT00000409623
    Conserved Domains (2) summary
    PHA03255
    Location:276443
    PHA03255; BDLF3; Provisional
    pfam00801
    Location:235301
    PKD; PKD domain
  3. NM_001320121.1NP_001307050.1  melanocyte protein PMEL isoform 4 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame segment in the central coding region compared to variant 1. The encoded isoform (4, also known as Pmel17-ls) is shorter than isoform 1.
    Source sequence(s)
    AC025162
    UniProtKB/Swiss-Prot
    P40967
    Conserved Domains (1) summary
    pfam00801
    Location:235301
    PKD; PKD domain
  4. NM_001320122.1NP_001307051.1  melanocyte protein PMEL isoform 5 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame segment in the central coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (5, also known as Pmel17-is) is shorter than isoform 1.
    Source sequence(s)
    AC025162
    UniProtKB/Swiss-Prot
    P40967
    Conserved Domains (1) summary
    pfam00801
    Location:235301
    PKD; PKD domain
  5. NM_006928.4NP_008859.1  melanocyte protein PMEL isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_008859.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a longer 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (3, Pmel17-i) is shorter than isoform 1.
    Source sequence(s)
    AC025162, DA035117, S73003, U01874
    Consensus CDS
    CCDS8897.1
    UniProtKB/Swiss-Prot
    P40967
    Related
    ENSP00000447374.1, OTTHUMP00000244026, ENST00000548493.5, OTTHUMT00000409627
    Conserved Domains (2) summary
    pfam00801
    Location:235301
    PKD; PKD domain
    cl25495
    Location:276443
    Endomucin; Endomucin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    55954105..55966712 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538685.1XP_011536987.1  melanocyte protein PMEL isoform X1

    See identical proteins and their annotated locations for XP_011536987.1

    UniProtKB/Swiss-Prot
    P40967
    Conserved Domains (2) summary
    PHA03255
    Location:276443
    PHA03255; BDLF3; Provisional
    pfam00801
    Location:235301
    PKD; PKD domain
  2. XM_006719569.1XP_006719632.1  melanocyte protein PMEL isoform X2

    See identical proteins and their annotated locations for XP_006719632.1

    UniProtKB/Swiss-Prot
    P40967
    Related
    ENSP00000448828.1, OTTHUMP00000244025, ENST00000548747.5, OTTHUMT00000409626
    Conserved Domains (2) summary
    pfam00801
    Location:235301
    PKD; PKD domain
    cl25495
    Location:276443
    Endomucin; Endomucin

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    56315023..56327629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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