LOCUS       NP_068682                626 aa            linear   ROD 01-MAY-2025
DEFINITION  melanocyte protein PMEL precursor [Mus musculus].
ACCESSION   NP_068682
VERSION     NP_068682.2
DBSOURCE    REFSEQ: accession NM_021882.5
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 626)
  AUTHORS   Chen,Y., Li,H., Wang,J., Yang,S., Su,Z., Wang,W., Rao,C. and Hou,L.
  TITLE     The Ednrb-Aim2-AKT axis regulates neural crest-derived melanoblast
            proliferation during early development
  JOURNAL   Development 151 (22) (2024)
   PUBMED   39555938
REFERENCE   2  (residues 1 to 626)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (residues 1 to 626)
  AUTHORS   Jacob,T., Annusver,K., Czarnewski,P., Dalessandri,T., Kalk,C.,
            Levra Levron,C., Campama Sanz,N., Kastriti,M.E., Mikkola,M.L.,
            Rendl,M., Lichtenberger,B.M., Donati,G., Bjorklund,A.K. and
            Kasper,M.
  TITLE     Molecular and spatial landmarks of early mouse skin development
  JOURNAL   Dev Cell 58 (20), 2140-2162 (2023)
   PUBMED   37591247
REFERENCE   4  (residues 1 to 626)
  AUTHORS   Escobar,G., Tooley,K., Oliveras,J.P., Huang,L., Cheng,H.,
            Bookstaver,M.L., Edwards,C., Froimchuk,E., Xue,C., Mangani,D.,
            Krishnan,R.K., Hazel,N., Rutigliani,C., Jewell,C.M., Biasco,L. and
            Anderson,A.C.
  TITLE     Tumor immunogenicity dictates reliance on TCF1 in CD8+ T cells for
            response to immunotherapy
  JOURNAL   Cancer Cell 41 (9), 1662-1679 (2023)
   PUBMED   37625402
REFERENCE   5  (residues 1 to 626)
  AUTHORS   Wilkinson,E.L., Brennan,L.C., Harrison,O.J., Crane-Smith,Z.,
            Gautier,P., Keighren,M.A., Budd,P., Swaminathan,K., Machesky,L.M.,
            Allinson,S.L., Jackson,I.J. and Mort,R.L.
  TITLE     Genetically engineered multicistronic allele of Pmel yielding
            highly specific CreERT2-mediated recombination in the melanocyte
            lineage
  JOURNAL   Pigment Cell Melanoma Res 36 (1), 71-77 (2023)
   PUBMED   36412082
REFERENCE   6  (residues 1 to 626)
  AUTHORS   Orlow,S.J., Hearing,V.J., Sakai,C., Urabe,K., Zhou,B.K.,
            Silvers,W.K. and Mintz,B.
  TITLE     Changes in expression of putative antigens encoded by pigment genes
            in mouse melanomas at different stages of malignant progression
  JOURNAL   Proc Natl Acad Sci U S A 92 (22), 10152-10156 (1995)
   PUBMED   7479744
REFERENCE   7  (residues 1 to 626)
  AUTHORS   Ozeki,H., Ito,S., Wakamatsu,K. and Hirobe,T.
  TITLE     Chemical characterization of hair melanins in various coat-color
            mutants of mice
  JOURNAL   J Invest Dermatol 105 (3), 361-366 (1995)
   PUBMED   7665913
REFERENCE   8  (residues 1 to 626)
  AUTHORS   Sango,K., Johnson,O.N., Kozak,C.A. and Proia,R.L.
  TITLE     beta-1,4-N-Acetylgalactosaminyltransferase involved in ganglioside
            synthesis: cDNA sequence, expression, and chromosome mapping of the
            mouse gene
  JOURNAL   Genomics 27 (2), 362-365 (1995)
   PUBMED   7558008
REFERENCE   9  (residues 1 to 626)
  AUTHORS   Kwon,B.S., Chintamaneni,C., Kozak,C.A., Copeland,N.G.,
            Gilbert,D.J., Jenkins,N., Barton,D., Francke,U., Kobayashi,Y. and
            Kim,K.K.
  TITLE     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
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 9228-9232 (1991)
   PUBMED   1924386
REFERENCE   10 (residues 1 to 626)
  AUTHORS   Swank,R.T., Reddington,M., Howlett,O. and Novak,E.K.
  TITLE     Platelet storage pool deficiency associated with inherited
            abnormalities of the inner ear in the mouse pigment mutants muted
            and mocha
  JOURNAL   Blood 78 (8), 2036-2044 (1991)
   PUBMED   1912584
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC117232.3 and AC131081.7.
            
            On Jun 19, 2003 this sequence version replaced NP_068682.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK012808.1, BC082555.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..626
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 77.13 cM"
     Protein         1..626
                     /product="melanocyte protein PMEL precursor"
                     /note="silver locus protein; melanocyte protein pmel 17"
                     /calculated_mol_wt=63909
     sig_peptide     1..23
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
                     /calculated_mol_wt=2411
     mat_peptide     24..626
                     /product="Melanocyte protein PMEL. /id=PRO_0000024713"
                     /note="propagated from UniProtKB/Swiss-Prot (Q60696.2)"
                     /calculated_mol_wt=63909
     Site            80
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Site            105
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Site            110
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Region          147..222
                     /region_name="Amyloidogenic unit.
                     /evidence=ECO:0000250|UniProtKB:P40967"
                     /note="propagated from UniProtKB/Swiss-Prot (Q60696.2)"
     Site            150
                     /site_type="other"
                     /note="Essential for fibril formation.
                     /evidence=ECO:0000250|UniProtKB:P40967; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Site            159
                     /site_type="other"
                     /note="Essential for fibril formation.
                     /evidence=ECO:0000250|UniProtKB:P40967; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Region          234..300
                     /region_name="PKD"
                     /note="PKD domain; pfam00801"
                     /db_xref="CDD:395646"
     Region          301..430
                     /region_name="10 X 13 AA approximate tandem repeats, RPT
                     domain. /evidence=ECO:0000255,
                     ECO:0000305|PubMed:30988362"
                     /note="propagated from UniProtKB/Swiss-Prot (Q60696.2)"
     Region          315..349
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q60696.2)"
     Region          379..422
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q60696.2)"
     Site            435..436
                     /site_type="cleavage"
                     /note="Cleavage, by furin-like proprotein convertase.
                     /evidence=ECO:0000250|UniProtKB:P40967; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Region          481..532
                     /region_name="PKAT_KLD"
                     /note="PKAT, KLD domain; pfam20433"
                     /db_xref="CDD:466582"
     Region          482..532
                     /region_name="Kringle-like fold.
                     /evidence=ECO:0000250|UniProtKB:P40967"
                     /note="propagated from UniProtKB/Swiss-Prot (Q60696.2)"
     Site            534
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Site            549..550
                     /site_type="cleavage"
                     /note="Cleavage, by ADAM metalloproteinases.
                     /evidence=ECO:0000250|UniProtKB:P40967; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Site            562..582
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q60696.2)"
     Site            620..621
                     /site_type="other"
                     /note="Endocytosis signal.
                     /evidence=ECO:0000250|UniProtKB:P40967; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     Site            626
                     /site_type="other"
                     /note="ER exit signal.
                     /evidence=ECO:0000250|UniProtKB:P40967; propagated from
                     UniProtKB/Swiss-Prot (Q60696.2)"
     CDS             1..626
                     /gene="Pmel"
                     /gene_synonym="D10H12S53E; D12S53Eh; gp100; gp87; Pmel17;
                     Si; Silv"
                     /coded_by="NM_021882.5:29..1909"
                     /db_xref="CCDS:CCDS36091.1"
                     /db_xref="GeneID:20431"
                     /db_xref="MGI:MGI:98301"
ORIGIN      
        1 mgvqrrsflp vlvlsallav galegsrnqd wlgvprqlvt ktwnrqlype wtevqgsncw
       61 rggqvslrvi ndgptlvgan asfsialhfp gsqkvlpdgq viwanntiin gsqvwggqpv
      121 ypqepddacv fpdggpcpsg pkppkrsfvy vwktwgkywq vlggpvsrls iatghaklgt
      181 htmevtvyhr rgsqsyvpla hasstftitd qvpfsvsvsq lqaldgetkh flrnhplifa
      241 lqlhdpsgyl aeadlsytwd fgdgtgtlis raldvthtyl esgsvtaqvv lqaaiplvsc
      301 gsspvpgttd gymptaeapg ttsrqgtttk vvgttpgqmp ttqpsgttvv qmpttevtat
      361 tseqmltsav idttlaevst tegtgttptr psgttvaqat ttegpdaspl lptqsstgsi
      421 spllddtdti mlvkrqvpld cvlyrygsfs laldivqgie saeilqavpf segdafeltv
      481 scqgglpkea cmdisspgcq ppaqrlcqsv ppspdcqlvl hqvlkggsgt yclnvslada
      541 nslavastql vvpgqdgglg qapllvgill vlvavvlasl ihrhrlkkqg svsqmphgst
      601 hwlrlppvfr arglgenspl lsgqqv
//
