LOCUS       NM_001320122            2020 bp    mRNA    linear   PRI 20-AUG-2024
DEFINITION  Homo sapiens premelanosome protein (PMEL), transcript variant 5,
            mRNA.
ACCESSION   NM_001320122 XM_011538687
VERSION     NM_001320122.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2020)
  AUTHORS   Mann,J.E., Hasson,N., Su,D.G., Adeniran,A.J., Smalley,K.S.M.,
            Djureinovic,D., Jilaveanu,L.B., Schoenfeld,D.A. and Kluger,H.M.
  TITLE     GP100 expression is variable in intensity in melanoma
  JOURNAL   Cancer Immunol Immunother 73 (10), 191 (2024)
   PUBMED   39105816
  REMARK    GeneRIF: GP100 expression is variable in intensity in melanoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2020)
  AUTHORS   Kawahara,R., Usami,T., Arakawa,S., Kamo,H., Suzuki,T., Komatsu,R.,
            Hara,H., Niwa,Y., Shimizu,E., Dohmae,N., Shimizu,S. and Simizu,S.
  TITLE     Biogenesis of fibrils requires C-mannosylation of PMEL
  JOURNAL   FEBS J 290 (22), 5373-5394 (2023)
   PUBMED   37552474
  REMARK    GeneRIF: Biogenesis of fibrils requires C-mannosylation of PMEL.
REFERENCE   3  (bases 1 to 2020)
  AUTHORS   Chrystal,P.W., Footz,T., Hodges,E.D., Jensen,J.A., Walter,M.A. and
            Allison,W.T.
  TITLE     Functional Domains and Evolutionary History of the PMEL and GPNMB
            Family Proteins
  JOURNAL   Molecules 26 (12), 3529 (2021)
   PUBMED   34207849
  REMARK    GeneRIF: Functional Domains and Evolutionary History of the PMEL
            and GPNMB Family Proteins.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2020)
  AUTHORS   Nichols,S.E., Harper,D.C., Berson,J.F. and Marks,M.S.
  TITLE     A novel splice variant of Pmel17 expressed by human melanocytes and
            melanoma cells lacking some of the internal repeats
  JOURNAL   J Invest Dermatol 121 (4), 821-830 (2003)
   PUBMED   14632201
  REMARK    GeneRIF: truncation of the repeat region within Pmel17 alters
            either fibrillogenic activity or the interaction of Pmel17 with
            melanin intermediates
REFERENCE   5  (bases 1 to 2020)
  AUTHORS   Berson,J.F., Harper,D.C., Tenza,D., Raposo,G. and Marks,M.S.
  TITLE     Pmel17 initiates premelanosome morphogenesis within multivesicular
            bodies
  JOURNAL   Mol Biol Cell 12 (11), 3451-3464 (2001)
   PUBMED   11694580
  REMARK    GeneRIF: Pmel17 is proteolytically processed in a post-Golgi
            compartment and is enriched in multivesicular endosomes prior to
            incorporation in stage II melanosomes.
REFERENCE   6  (bases 1 to 2020)
  AUTHORS   Kubota,R., Wang,Y., Minoshima,S., Kudoh,J., Mashima,Y., Oguchi,Y.
            and Shimizu,N.
  TITLE     Mapping of the human gene for a melanocyte protein Pmel 17
            (D12S53E) to chromosome 12q13-q14
  JOURNAL   Genomics 26 (2), 430-431 (1995)
   PUBMED   7601481
REFERENCE   7  (bases 1 to 2020)
  AUTHORS   Adema,G.J., de Boer,A.J., Vogel,A.M., Loenen,W.A. and Figdor,C.G.
  TITLE     Molecular characterization of the melanocyte lineage-specific
            antigen gp100
  JOURNAL   J Biol Chem 269 (31), 20126-20133 (1994)
   PUBMED   7519602
REFERENCE   8  (bases 1 to 2020)
  AUTHORS   Kawakami,Y., Eliyahu,S., Delgado,C.H., Robbins,P.F., Sakaguchi,K.,
            Appella,E., Yannelli,J.R., Adema,G.J., Miki,T. and Rosenberg,S.A.
  TITLE     Identification of a human melanoma antigen recognized by
            tumor-infiltrating lymphocytes associated with in vivo tumor
            rejection
  JOURNAL   Proc Natl Acad Sci U S A 91 (14), 6458-6462 (1994)
   PUBMED   8022805
REFERENCE   9  (bases 1 to 2020)
  AUTHORS   Maresh,G.A., Marken,J.S., Neubauer,M., Aruffo,A., Hellstrom,I.,
            Hellstrom,K.E. and Marquardt,H.
  TITLE     Cloning and expression of the gene for the melanoma-associated ME20
            antigen
  JOURNAL   DNA Cell Biol 13 (2), 87-95 (1994)
   PUBMED   8179825
REFERENCE   10 (bases 1 to 2020)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025162.48.
            
            On Feb 12, 2016 this sequence version replaced XM_011538687.1.
            
            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].
            
            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.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA2145893
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: PMID: 14632201
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-127               AC025162.48        62036-62162         c
            128-238             AC025162.48        57722-57832         c
            239-385             AC025162.48        57417-57563         c
            386-520             AC025162.48        54573-54707         c
            521-682             AC025162.48        54023-54184         c
            683-1168            AC025162.48        53286-53771         c
            1169-1279           AC025162.48        53049-53159         c
            1280-1396           AC025162.48        52203-52319         c
            1397-1481           AC025162.48        51879-51963         c
            1482-1687           AC025162.48        51564-51769         c
            1688-1775           AC025162.48        51374-51461         c
            1776-2020           AC025162.48        50205-50449         c
FEATURES             Location/Qualifiers
     source          1..2020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..2020
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /note="premelanosome protein"
                     /db_xref="GeneID:6490"
                     /db_xref="HGNC:HGNC:10880"
                     /db_xref="MIM:155550"
     exon            1..127
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1911
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /note="isoform 5 preproprotein is encoded by transcript
                     variant 5; melanosomal matrix protein17; melanocyte
                     protein Pmel 17; melanocyte protein mel 17; silver, mouse,
                     homolog of; silver locus protein homolog;
                     melanoma-associated ME20 antigen; melanocytes
                     lineage-specific antigen GP100"
                     /codon_start=1
                     /product="melanocyte protein PMEL isoform 5 preproprotein"
                     /protein_id="NP_001307051.1"
                     /db_xref="GeneID:6490"
                     /db_xref="HGNC:HGNC:10880"
                     /db_xref="MIM:155550"
                     /translation="MDLVLKRCLLHLAVIGALLAVGATKVPRNQDWLGVSRQLRTKAW
                     NRQLYPEWTEAQRLDCWRGGQVSLKVSNDGPTLIGANASFSIALNFPGSQKVLPDGQV
                     IWVNNTIINGSQVWGGQPVYPQETDDACIFPDGGPCPSGSWSQKRSFVYVWKTWGQYW
                     QVLGGPVSGLSIGTGRAMLGTHTMEVTVYHRRGSRSYVPLAHSSSAFTITDQVPFSVS
                     VSQLRALDGGNKHFLRNQPLTFALQLHDPSGYLAEADLSYTWDFGDSSGTLISRALVV
                     THTYLEPGPVTAQVVLQAAIPLTSCGSSPVPGTTDGHRPTAEAPNTTAGQVPTTEVVG
                     TTPGQAPTAEPSGTTSVQVPTTEVISTAPVQMPTAESTAAQVTTTEWVETTARELPIP
                     EPEGPDASSIMSTESITGSLGPLLDGTATLRLVKRQVPLDCVLYRYGSFSVTLDIVQG
                     IESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPAC
                     QLVLHQILKGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMA
                     VVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCPIGENSPLLSGQQV"
     exon            128..238
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            239..385
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            386..520
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            521..682
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            683..1168
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1279
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1396
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1481
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1687
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1775
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     exon            1776..2020
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2001..2006
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /note="hexamer: AATAAA"
     polyA_site      2020
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /note="major polyA site"
ORIGIN      
        1 gggcctatcc cagtcccccc agtgcctttg gttgctggag ggaagaacac aatggatctg
       61 gtgctaaaaa gatgccttct tcatttggct gtgataggtg ctttgctggc tgtgggggct
      121 acaaaagtac ccagaaacca ggactggctt ggtgtctcaa ggcaactcag aaccaaagcc
      181 tggaacaggc agctgtatcc agagtggaca gaagcccaga gacttgactg ctggagaggt
      241 ggtcaagtgt ccctcaaggt cagtaatgat gggcctacac tgattggtgc aaatgcctcc
      301 ttctctattg ccttgaactt ccctggaagc caaaaggtat tgccagatgg gcaggttatc
      361 tgggtcaaca ataccatcat caatgggagc caggtgtggg gaggacagcc agtgtatccc
      421 caggaaactg acgatgcctg catcttccct gatggtggac cttgcccatc tggctcttgg
      481 tctcagaaga gaagctttgt ttatgtctgg aagacctggg gccaatactg gcaagttcta
      541 gggggcccag tgtctgggct gagcattggg acaggcaggg caatgctggg cacacacacc
      601 atggaagtga ctgtctacca tcgccgggga tcccggagct atgtgcctct tgctcattcc
      661 agctcagcct tcaccattac tgaccaggtg cctttctccg tgagcgtgtc ccagttgcgg
      721 gccttggatg gagggaacaa gcacttcctg agaaatcagc ctctgacctt tgccctccag
      781 ctccatgacc ccagtggcta tctggctgaa gctgacctct cctacacctg ggactttgga
      841 gacagtagtg gaaccctgat ctctcgggca cttgtggtca ctcatactta cctggagcct
      901 ggcccagtca ctgcccaggt ggtcctgcag gctgccattc ctctcacctc ctgtggctcc
      961 tccccagttc caggcaccac agatgggcac aggccaactg cagaggcccc taacaccaca
     1021 gctggccaag tgcctactac agaagttgtg ggtactacac ctggtcaggc gccaactgca
     1081 gagccctctg gaaccacatc tgtgcaggtg ccaaccactg aagtcataag cactgcacct
     1141 gtgcagatgc caactgcaga gagcacagct gcacaggtaa caactacaga gtgggtggag
     1201 accacagcta gagagctacc tatccctgag cctgaaggtc cagatgccag ctcaatcatg
     1261 tctacggaaa gtattacagg ttccctgggc cccctgctgg atggtacagc caccttaagg
     1321 ctggtgaaga gacaagtccc cctggattgt gttctgtatc gatatggttc cttttccgtc
     1381 accctggaca ttgtccaggg tattgaaagt gccgagatcc tgcaggctgt gccgtccggt
     1441 gagggggatg catttgagct gactgtgtcc tgccaaggcg ggctgcccaa ggaagcctgc
     1501 atggagatct catcgccagg gtgccagccc cctgcccagc ggctgtgcca gcctgtgcta
     1561 cccagcccag cctgccagct ggttctgcac cagatactga agggtggctc ggggacatac
     1621 tgcctcaatg tgtctctggc tgataccaac agcctggcag tggtcagcac ccagcttatc
     1681 atgcctggtc aagaagcagg ccttgggcag gttccgctga tcgtgggcat cttgctggtg
     1741 ttgatggctg tggtccttgc atctctgata tataggcgca gacttatgaa gcaagacttc
     1801 tccgtacccc agttgccaca tagcagcagt cactggctgc gtctaccccg catcttctgc
     1861 tcttgtccca ttggtgagaa cagccccctc ctcagtgggc agcaggtctg agtactctca
     1921 tatgatgctg tgattttcct ggagttgaca gaaacaccta tatttccccc agtcttccct
     1981 gggagactac tattaactga aataaatact cagagcctga
//
