LOCUS       NM_001384361            2126 bp    mRNA    linear   PRI 20-AUG-2024
DEFINITION  Homo sapiens premelanosome protein (PMEL), transcript variant 6,
            mRNA.
ACCESSION   NM_001384361
VERSION     NM_001384361.1
KEYWORDS    RefSeq; MANE Select.
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 2126)
  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 2126)
  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 2126)
  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 2126)
  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 2126)
  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 2126)
  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 2126)
  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 2126)
  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 2126)
  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 2126)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            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].
            
            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 :: BC001414.2, S73003.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000548747.6/ ENSP00000448828.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-107               AC025162.48        62036-62142         c
            108-218             AC025162.48        57722-57832         c
            219-365             AC025162.48        57417-57563         c
            366-500             AC025162.48        54573-54707         c
            501-662             AC025162.48        54023-54184         c
            663-1385            AC025162.48        53049-53771         c
            1386-1502           AC025162.48        52203-52319         c
            1503-1587           AC025162.48        51879-51963         c
            1588-1793           AC025162.48        51564-51769         c
            1794-1881           AC025162.48        51374-51461         c
            1882-2126           AC025162.48        50205-50449         c
FEATURES             Location/Qualifiers
     source          1..2126
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..2126
                     /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..107
                     /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             32..2017
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /note="isoform 3 preproprotein is encoded by transcript
                     variant 6; 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 3 preproprotein"
                     /protein_id="NP_001371290.1"
                     /db_xref="CCDS:CCDS8897.1"
                     /db_xref="GeneID:6490"
                     /db_xref="HGNC:HGNC:10880"
                     /db_xref="MIM:155550"
                     /translation="MDLVLKRCLLHLAVIGALLAVGATKVPRNQDWLGVSRQLRTKAW
                     NRQLYPEWTEAQRLDCWRGGQVSLKVSNDGPTLIGANASFSIALNFPGSQKVLPDGQV
                     IWVNNTIINGSQVWGGQPVYPQETDDACIFPDGGPCPSGSWSQKRSFVYVWKTWGQYW
                     QVLGGPVSGLSIGTGRAMLGTHTMEVTVYHRRGSRSYVPLAHSSSAFTITDQVPFSVS
                     VSQLRALDGGNKHFLRNQPLTFALQLHDPSGYLAEADLSYTWDFGDSSGTLISRALVV
                     THTYLEPGPVTAQVVLQAAIPLTSCGSSPVPGTTDGHRPTAEAPNTTAGQVPTTEVVG
                     TTPGQAPTAEPSGTTSVQVPTTEVISTAPVQMPTAESTGMTPEKVPVSEVMGTTLAEM
                     STPEATGMTPAEVSIVVLSGTTAAQVTTTEWVETTARELPIPEPEGPDASSIMSTESI
                     TGSLGPLLDGTATLRLVKRQVPLDCVLYRYGSFSVTLDIVQGIESAEILQAVPSGEGD
                     AFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQILKGGSGTYC
                     LNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQD
                     FSVPQLPHSSSHWLRLPRIFCSCPIGENSPLLSGQQV"
     exon            108..218
                     /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            219..365
                     /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            366..500
                     /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            501..662
                     /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            663..1385
                     /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            1386..1502
                     /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            1503..1587
                     /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            1588..1793
                     /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            1794..1881
                     /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            1882..2126
                     /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      2107..2112
                     /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      2126
                     /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 agtgcctttg gttgctggag ggaagaacac aatggatctg gtgctaaaaa gatgccttct
       61 tcatttggct gtgataggtg ctttgctggc tgtgggggct acaaaagtac ccagaaacca
      121 ggactggctt ggtgtctcaa ggcaactcag aaccaaagcc tggaacaggc agctgtatcc
      181 agagtggaca gaagcccaga gacttgactg ctggagaggt ggtcaagtgt ccctcaaggt
      241 cagtaatgat gggcctacac tgattggtgc aaatgcctcc ttctctattg ccttgaactt
      301 ccctggaagc caaaaggtat tgccagatgg gcaggttatc tgggtcaaca ataccatcat
      361 caatgggagc caggtgtggg gaggacagcc agtgtatccc caggaaactg acgatgcctg
      421 catcttccct gatggtggac cttgcccatc tggctcttgg tctcagaaga gaagctttgt
      481 ttatgtctgg aagacctggg gccaatactg gcaagttcta gggggcccag tgtctgggct
      541 gagcattggg acaggcaggg caatgctggg cacacacacc atggaagtga ctgtctacca
      601 tcgccgggga tcccggagct atgtgcctct tgctcattcc agctcagcct tcaccattac
      661 tgaccaggtg cctttctccg tgagcgtgtc ccagttgcgg gccttggatg gagggaacaa
      721 gcacttcctg agaaatcagc ctctgacctt tgccctccag ctccatgacc ccagtggcta
      781 tctggctgaa gctgacctct cctacacctg ggactttgga gacagtagtg gaaccctgat
      841 ctctcgggca cttgtggtca ctcatactta cctggagcct ggcccagtca ctgcccaggt
      901 ggtcctgcag gctgccattc ctctcacctc ctgtggctcc tccccagttc caggcaccac
      961 agatgggcac aggccaactg cagaggcccc taacaccaca gctggccaag tgcctactac
     1021 agaagttgtg ggtactacac ctggtcaggc gccaactgca gagccctctg gaaccacatc
     1081 tgtgcaggtg ccaaccactg aagtcataag cactgcacct gtgcagatgc caactgcaga
     1141 gagcacaggt atgacacctg agaaggtgcc agtttcagag gtcatgggta ccacactggc
     1201 agagatgtca actccagagg ctacaggtat gacacctgca gaggtatcaa ttgtggtgct
     1261 ttctggaacc acagctgcac aggtaacaac tacagagtgg gtggagacca cagctagaga
     1321 gctacctatc cctgagcctg aaggtccaga tgccagctca atcatgtcta cggaaagtat
     1381 tacaggttcc ctgggccccc tgctggatgg tacagccacc ttaaggctgg tgaagagaca
     1441 agtccccctg gattgtgttc tgtatcgata tggttccttt tccgtcaccc tggacattgt
     1501 ccagggtatt gaaagtgccg agatcctgca ggctgtgccg tccggtgagg gggatgcatt
     1561 tgagctgact gtgtcctgcc aaggcgggct gcccaaggaa gcctgcatgg agatctcatc
     1621 gccagggtgc cagccccctg cccagcggct gtgccagcct gtgctaccca gcccagcctg
     1681 ccagctggtt ctgcaccaga tactgaaggg tggctcgggg acatactgcc tcaatgtgtc
     1741 tctggctgat accaacagcc tggcagtggt cagcacccag cttatcatgc ctggtcaaga
     1801 agcaggcctt gggcaggttc cgctgatcgt gggcatcttg ctggtgttga tggctgtggt
     1861 ccttgcatct ctgatatata ggcgcagact tatgaagcaa gacttctccg taccccagtt
     1921 gccacatagc agcagtcact ggctgcgtct accccgcatc ttctgctctt gtcccattgg
     1981 tgagaacagc cccctcctca gtgggcagca ggtctgagta ctctcatatg atgctgtgat
     2041 tttcctggag ttgacagaaa cacctatatt tcccccagtc ttccctggga gactactatt
     2101 aactgaaata aatactcaga gcctga
//
