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UniProtKB/Swiss-Prot entry P40967


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name PME17_HUMAN
Primary accession number P40967
Secondary accession numbers Q12763 Q14448 Q14817 Q16565
Integrated into Swiss-Prot on February 1, 1995
Sequence was last modified on November 1, 1997 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 85)
Name and origin of the protein
Protein name Melanocyte protein Pmel 17 [Precursor]
Synonyms Silver locus protein homolog
Melanocyte lineage-specific antigen GP100
Melanoma-associated ME20 antigen
ME20-M
ME20M
Contains ME20-S
     (Secreted melanoma-associated ME20 antigen)
     (ME20S)
     (95 kDa melanocyte-specific secreted glycoprotein)
Gene name
Name: SILV
Synonyms: D12S53E, PMEL17
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1073/pnas.88.20.9228; PubMed=1924386 [NCBI, ExPASy, EBI, Israel, Japan]
Kwon B.S., Chintamaneni C., Kozak C.A., Copeland N.G., Gilbert D.J., Jenkins N.A., Barton D., Francke U., Kobayashi Y., Kim K.-K.;
"A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12.";
Proc. Natl. Acad. Sci. U.S.A. 88:9228-9232(1991).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=7519602 [NCBI, ExPASy, EBI, Israel, Japan]
Adema G.J., de Boer A.J., Vogel A.M., Loenen W.A., Figdor C.G.;
"Molecular characterization of the melanocyte lineage-specific antigen gp100.";
J. Biol. Chem. 269:20126-20133(1994).
[3]
NUCLEOTIDE SEQUENCE.
DOI=10.1073/pnas.91.14.6458; PubMed=8022805 [NCBI, ExPASy, EBI, Israel, Japan]
Kawakami Y., Eliyahu S., Delgado C.H., Robbins P.F., Sakaguchi K., Appella E., Yannelli J.R., Adema G.J., Miki T., Rosenberg S.A.;
"Identification of a human melanoma antigen recognized by tumor-infiltrating lymphocytes associated with in vivo tumor rejection.";
Proc. Natl. Acad. Sci. U.S.A. 91:6458-6462(1994).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1111/1523-1747.ep12326976; PubMed=8592076 [NCBI, ExPASy, EBI, Israel, Japan]
Bailin T., Lee S.-T., Spritz R.A.;
"Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.";
J. Invest. Dermatol. 106:24-27(1996).
[5]
NUCLEOTIDE SEQUENCE [MRNA], AND PROTEIN SEQUENCE OF 25-53.
DOI=10.1089/dna.1994.13.87; PubMed=8179825 [NCBI, ExPASy, EBI, Israel, Japan]
Maresh G.A., Marken J.S., Neubauer M., Aruffo A., Hellstroem I., Hellstroem K.E., Marquardt H.;
"Cloning and expression of the gene for the melanoma-associated ME20 antigen.";
DNA Cell Biol. 13:87-95(1994).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1111/j.1600-0749.1996.tb00085.x; PubMed=8739560 [NCBI, ExPASy, EBI, Israel, Japan]
Kim K.K., Youn B.S., Heng H.H.Q., Shi X.-M., Tsui L.-C., Lee Z.H., Pickard R.T., Kwon B.S.;
"Genomic organization and FISH mapping of human Pmel 17, the putative silver locus.";
Pigment Cell Res. 9:42-48(1996).
[7]
NUCLEOTIDE SEQUENCE [MRNA].
Vogel A.;
"Sequence of a melanocyte specific secreted glycoprotein.";
Submitted (NOV-1990) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
DOI=10.1021/pr025562r; PubMed=12643545 [NCBI, ExPASy, EBI, Israel, Japan]
Basrur V., Yang F., Kushimoto T., Higashimoto Y., Yasumoto K., Valencia J., Muller J., Vieira W.D., Watabe H., Shabanowitz J., Hearing V.J., Hunt D.F., Appella E.;
"Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.";
J. Proteome Res. 2:69-79(2003).
[11]
SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
DOI=10.1021/pr060363j; PubMed=17081065 [NCBI, ExPASy, EBI, Israel, Japan]
Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.;
"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.";
J. Proteome Res. 5:3135-3144(2006).
Comments
  • FUNCTION: Could be a melanogenic enzyme. Could represent an oncofetal self-antigen that is normally expressed at low levels in quiescent adult melanocytes but overexpressed by proliferating neonatal melanocytes and during tumor growth. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity.
  • SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
  • SUBCELLULAR LOCATION: ME20-S: Secreted (Probable). Note=Probably product of proteolytic cleavage.
  • TISSUE SPECIFICITY: Preferentially expressed in melanomas. Some expression was found in dysplastic nevi. Not found in normal tissues nor in carcinomas.
  • SIMILARITY: Belongs to the Pmel-17/NMB family.
  • SIMILARITY: Contains 1 PKD domain.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
M77348; AAA60121.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S73003; AAC60634.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U31799; AAB00386.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U31808; AAB00386.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U31807; AAB00386.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U31797; AAB00386.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U31798; AAB00386.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U01874; AAA18479.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U20093; AAB19181.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U19491; AAB19181.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M32295; AAA35930.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BT007202; AAP35866.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC001414; AAH01414.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00031630; -.
PIR A41234; A41234.
I38400; I38400.
RefSeq NP_008859.1; -.
UniGene Hs.95972
3D structure databases
PDB
1TVB; X-ray; 1.80 A; C/F=209-217.[ExPASy / RCSB / EBI]
1TVH; X-ray; 1.80 A; C/F=211-217.[ExPASy / RCSB / EBI]
3CC5; X-ray; 1.91 A; C/F=25-33.[ExPASy / RCSB / EBI]
Detailed list of linked structures.
PDBsum 1TVB; -.
1TVH; -.
3CC5; -.
ModBase P40967.
Organism-specific databases
GeneCards GC12M054634; -.
H-InvDB HIX0018537; -.
HGNC HGNC:10880; SILV.
GenAtlas SILV.
HPA HPA001337; -.
MIM 155550; gene. [NCBI / EBI]
PharmGKB PA35781; -.
Gene expression databases
ArrayExpress P40967; -.
Bgee P40967; -.
CleanEx HS_SILV; -.
GermOnline ENSG00000185664; Homo sapiens.
Ontologies
GO
GO:0005576; Cellular component: extracellular region (inferred from electronic annotation from UniProtKB-KW).
GO:0016021; Cellular component: integral to membrane (inferred from electronic annotation from UniProtKB-KW).
GO:0042470; Cellular component: melanosome (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005634; Cellular component: nucleus (inferred from direct assay from HPA).
GO:0005886; Cellular component: plasma membrane (traceable author statement from ProtInc).
GO:0006583; Biological process: melanin biosynthetic process from tyrosine (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR000601; PKD.
Graphical view of domain structure.
Pfam PF00801; PKD; 1.
Pfam graphical view of domain structure.
SMART SM00089; PKD; 1.
SMART graphical view of domain structure.
PROSITE PS50093; PKD; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE P40967; -.
Genome annotation databases
Ensembl ENSG00000185664; Homo sapiens. [Contig view]
GeneID 6490; -.
KEGG hsa:6490; -.
Phylogenomic databases
HOVERGEN P40967; -.
OMA P40967; QVWGGQP.
Other
NextBio 25221; -.
SOURCE SILV; Homo sapiens.
ProtoNet P40967.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Direct protein sequencing; Glycoprotein; Melanin biosynthesis; Membrane; Polymorphism; Repeat; Secreted; Signal; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    24  24      
CHAIN   25   661  637     Melanocyte protein Pmel 17. PRO_0000024712
CHAIN   25     ?        ME20-S. PRO_0000292263
TOPO_DOM   25   595  571     Extracellular (Potential). 
TRANSMEM   596   616  21     Potential. 
TOPO_DOM   617   661  45     Cytoplasmic (Potential). 
DOMAIN   255   292  38     PKD. 
REPEAT   315   327  13     1. 
REPEAT   328   340  13     2. 
REPEAT   341   353  13     3. 
REPEAT   354   366  13     4. 
REPEAT   367   379  13     5. 
REPEAT   380   392  13     6. 
REPEAT   393   405  13     7. 
REPEAT   406   418  13     8. 
REPEAT   419   431  13     9. 
REPEAT   432   444  13     10. 
REGION   315   444  130     10 X 13 AA approximate tandem repeats. 
CARBOHYD   81    81        N-linked (GlcNAc...) (Potential). 
CARBOHYD   106   106        N-linked (GlcNAc...) (Potential). 
CARBOHYD   111   111        N-linked (GlcNAc...) (Potential). 
CARBOHYD   321   321        N-linked (GlcNAc...) (Potential). 
CARBOHYD   568   568        N-linked (GlcNAc...) (Potential). 
VARIANT   320   320  1     P -> H (in dbSNP:rs2071024 [NCBI]). VAR_050606 
VARIANT   370   370  1     E -> D (in dbSNP:rs17118154 [NCBI]). VAR_050607 
CONFLICT   162   162        V -> F (in Ref. 3). 
CONFLICT   274   274        L -> P (in Ref. 1 and 6). 
CONFLICT   587   587        P -> PVPGILLT (in Ref. 1; AAA60121). 
CONFLICT   592   592        G -> GG (in Ref. 5; AA sequence). 
CONFLICT   597   597        P -> R (in Ref. 1; AAA60121). 
CONFLICT   642   661        RIFCSCPIGENSPLLSGQQV -> ASSALVPLVRIAPSSVGSRSEYSHMML (in Ref. 7; AAA35930). 
Sequence information
Length: 661 AA [This is the length of the unprocessed precursor] Molecular weight: 70255 Da [This is the MW of the unprocessed precursor] CRC64: 8A904FAB16715653 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MDLVLKRCLL HLAVIGALLA VGATKVPRNQ DWLGVSRQLR TKAWNRQLYP EWTEAQRLDC 

        70         80         90        100        110        120 
WRGGQVSLKV SNDGPTLIGA NASFSIALNF PGSQKVLPDG QVIWVNNTII NGSQVWGGQP 

       130        140        150        160        170        180 
VYPQETDDAC IFPDGGPCPS GSWSQKRSFV YVWKTWGQYW QVLGGPVSGL SIGTGRAMLG 

       190        200        210        220        230        240 
THTMEVTVYH RRGSRSYVPL AHSSSAFTIT DQVPFSVSVS QLRALDGGNK HFLRNQPLTF 

       250        260        270        280        290        300 
ALQLHDPSGY LAEADLSYTW DFGDSSGTLI SRALVVTHTY LEPGPVTAQV VLQAAIPLTS 

       310        320        330        340        350        360 
CGSSPVPGTT DGHRPTAEAP NTTAGQVPTT EVVGTTPGQA PTAEPSGTTS VQVPTTEVIS 

       370        380        390        400        410        420 
TAPVQMPTAE STGMTPEKVP VSEVMGTTLA EMSTPEATGM TPAEVSIVVL SGTTAAQVTT 

       430        440        450        460        470        480 
TEWVETTARE LPIPEPEGPD ASSIMSTESI TGSLGPLLDG TATLRLVKRQ VPLDCVLYRY 

       490        500        510        520        530        540 
GSFSVTLDIV QGIESAEILQ AVPSGEGDAF ELTVSCQGGL PKEACMEISS PGCQPPAQRL 

       550        560        570        580        590        600 
CQPVLPSPAC QLVLHQILKG GSGTYCLNVS LADTNSLAVV STQLIMPGQE AGLGQVPLIV 

       610        620        630        640        650        660 
GILLVLMAVV LASLIYRRRL MKQDFSVPQL PHSSSHWLRL PRIFCSCPIG ENSPLLSGQQ 


V 

P40967 in FASTA format

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