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PMEL premelanosome protein [ Homo sapiens (human) ]

Gene ID: 6490, updated on 18-Sep-2024

Summary

Official Symbol
PMELprovided by HGNC
Official Full Name
premelanosome proteinprovided by HGNC
Primary source
HGNC:HGNC:10880
See related
Ensembl:ENSG00000185664 MIM:155550; AllianceGenome:HGNC:10880
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; HMB45; ME20M; gp100; HMB-45; 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]
Expression
Biased expression in skin (RPKM 37.5), testis (RPKM 2.4) and 1 other tissue See more
Orthologs
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Genomic context

See PMEL in Genome Data Viewer
Location:
12q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55954105..55966709, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55921167..55933772, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56347889..56360493, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene PYM homolog 1, exon junction complex associated factor Neighboring gene uncharacterized LOC124902941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4539 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56320788-56321368 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56321369-56321949 Neighboring gene diacylglycerol kinase alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56333724-56334224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56334225-56334725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56350689-56351190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56354315-56354815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6465 Neighboring gene cyclin dependent kinase 2 Neighboring gene RAB13, member RAS oncogene family pseudogene Neighboring gene RAB5B, member RAS oncogene family

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
EBI GWAS Catalog
Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in melanosome organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in melanosome organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in cis-Golgi network membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in melanosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in melanosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome membrane TAS
Traceable Author Statement
more info
 
located_in multivesicular body membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in multivesicular body, internal vesicle IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    5671..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, ENST00000550464.5
    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, ENST00000449260.6
    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_001384361.1NP_001371290.1  melanocyte protein PMEL isoform 3 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC025162
    Consensus CDS
    CCDS8897.1
    UniProtKB/Swiss-Prot
    B3KS57, B7Z6D7, P40967, Q12763, Q14448, Q14817, Q16565
    Related
    ENSP00000448828.1, ENST00000548747.6
    Conserved Domains (2) summary
    PHA03255
    Location:276443
    PHA03255; BDLF3; Provisional
    pfam00801
    Location:235301
    PKD; PKD domain
  6. NM_006928.5NP_008859.1  melanocyte protein PMEL isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_008859.1

    Status: REVIEWED

    Source sequence(s)
    AC025162
    Consensus CDS
    CCDS8897.1
    UniProtKB/Swiss-Prot
    B3KS57, B7Z6D7, P40967, Q12763, Q14448, Q14817, Q16565
    Related
    ENSP00000447374.1, ENST00000548493.5
    Conserved Domains (2) summary
    PHA03255
    Location:276443
    PHA03255; BDLF3; Provisional
    pfam00801
    Location:235301
    PKD; PKD domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    55954105..55966709 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    55921167..55933772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372923.1XP_054228898.1  melanocyte protein PMEL isoform X2

    UniProtKB/Swiss-Prot
    B3KS57, B7Z6D7, P40967, Q12763, Q14448, Q14817, Q16565
  2. XM_054372922.1XP_054228897.1  melanocyte protein PMEL isoform X1