LOCUS       NM_001200053            1902 bp    mRNA    linear   PRI 20-AUG-2024
DEFINITION  Homo sapiens premelanosome protein (PMEL), transcript variant 2,
            mRNA.
ACCESSION   NM_001200053
VERSION     NM_001200053.1
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 1902)
  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 1902)
  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 1902)
  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 1902)
  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 1902)
  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 1902)
  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 1902)
  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 1902)
  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 1902)
  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 1902)
  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 DA035117.1, AK300150.1,
            AC025162.48 and BC001414.2.
            
            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 (2) lacks two exons in the coding
            region, compared to variant 1. The encoded isoform (2) is shorter
            than isoform 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 :: AK300150.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                DA035117.1         33-52
            21-533              AK300150.1         1-513
            534-534             AC025162.48        53662-53662         c
            535-909             AK300150.1         515-889
            910-910             AC025162.48        53286-53286         c
            911-1748            AK300150.1         891-1728
            1749-1749           AC025162.48        50344-50344         c
            1750-1902           BC001414.2         1967-2119
FEATURES             Location/Qualifiers
     source          1..1902
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..1902
                     /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..1779
                     /gene="PMEL"
                     /gene_synonym="D12S53E; gp100; HMB-45; HMB45; ME20;
                     ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; 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 2 precursor"
                     /protein_id="NP_001186982.1"
                     /db_xref="CCDS:CCDS55833.1"
                     /db_xref="GeneID:6490"
                     /db_xref="HGNC:HGNC:10880"
                     /db_xref="MIM:155550"
                     /translation="MDLVLKRCLLHLAVIGALLAVGATKGSQVWGGQPVYPQETDDAC
                     IFPDGGPCPSGSWSQKRSFVYVWKTWGQYWQVLGGPVSGLSIGTGRAMLGTHTMEVTV
                     YHRRGSRSYVPLAHSSSAFTITDQVPFSVSVSQLRALDGGNKHFLRNQPLTFALQLHD
                     PSGYLAEADLSYTWDFGDSSGTLISRALVVTHTYLEPGPVTAQVVLQAAIPLTSCGSS
                     PVPGTTDGHRPTAEAPNTTAGQVPTTEVVGTTPGQAPTAEPSGTTSVQVPTTEVISTA
                     PVQMPTAESTGMTPEKVPVSEVMGTTLAEMSTPEATGMTPAEVSIVVLSGTTAAQVTT
                     TEWVETTARELPIPEPEGPDASSIMSTESITGSLGPLLDGTATLRLVKRQVPLDCVLY
                     RYGSFSVTLDIVQGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPP
                     AQRLCQPVLPSPACQLVLHQILKGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLG
                     QVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCPIGEN
                     SPLLSGQQV"
     exon            128..262
                     /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            263..424
                     /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            425..1147
                     /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            1148..1264
                     /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            1265..1349
                     /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            1350..1555
                     /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            1556..1643
                     /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            1644..1888
                     /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      1869..1874
                     /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      1888
                     /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 acaaaaggga gccaggtgtg gggaggacag ccagtgtatc cccaggaaac tgacgatgcc
      181 tgcatcttcc ctgatggtgg accttgccca tctggctctt ggtctcagaa gagaagcttt
      241 gtttatgtct ggaagacctg gggccaatac tggcaagttc tagggggccc agtgtctggg
      301 ctgagcattg ggacaggcag ggcaatgctg ggcacacaca ccatggaagt gactgtctac
      361 catcgccggg gatcccggag ctatgtgcct cttgctcatt ccagctcagc cttcaccatt
      421 actgaccagg tgcctttctc cgtgagcgtg tcccagttgc gggccttgga tggagggaac
      481 aagcacttcc tgagaaatca gcctctgacc tttgccctcc agctccatga ccccagtggc
      541 tatctggctg aagctgacct ctcctacacc tgggactttg gagacagtag tggaaccctg
      601 atctctcggg cacttgtggt cactcatact tacctggagc ctggcccagt cactgcccag
      661 gtggtcctgc aggctgccat tcctctcacc tcctgtggct cctccccagt tccaggcacc
      721 acagatgggc acaggccaac tgcagaggcc cctaacacca cagctggcca agtgcctact
      781 acagaagttg tgggtactac acctggtcag gcgccaactg cagagccctc tggaaccaca
      841 tctgtgcagg tgccaaccac tgaagtcata agcactgcac ctgtgcagat gccaactgca
      901 gagagcacag gtatgacacc tgagaaggtg ccagtttcag aggtcatggg taccacactg
      961 gcagagatgt caactccaga ggctacaggt atgacacctg cagaggtatc aattgtggtg
     1021 ctttctggaa ccacagctgc acaggtaaca actacagagt gggtggagac cacagctaga
     1081 gagctaccta tccctgagcc tgaaggtcca gatgccagct caatcatgtc tacggaaagt
     1141 attacaggtt ccctgggccc cctgctggat ggtacagcca ccttaaggct ggtgaagaga
     1201 caagtccccc tggattgtgt tctgtatcga tatggttcct tttccgtcac cctggacatt
     1261 gtccagggta ttgaaagtgc cgagatcctg caggctgtgc cgtccggtga gggggatgca
     1321 tttgagctga ctgtgtcctg ccaaggcggg ctgcccaagg aagcctgcat ggagatctca
     1381 tcgccagggt gccagccccc tgcccagcgg ctgtgccagc ctgtgctacc cagcccagcc
     1441 tgccagctgg ttctgcacca gatactgaag ggtggctcgg ggacatactg cctcaatgtg
     1501 tctctggctg ataccaacag cctggcagtg gtcagcaccc agcttatcat gcctggtcaa
     1561 gaagcaggcc ttgggcaggt tccgctgatc gtgggcatct tgctggtgtt gatggctgtg
     1621 gtccttgcat ctctgatata taggcgcaga cttatgaagc aagacttctc cgtaccccag
     1681 ttgccacata gcagcagtca ctggctgcgt ctaccccgca tcttctgctc ttgtcccatt
     1741 ggtgagaaca gccccctcct cagtgggcag caggtctgag tactctcata tgatgctgtg
     1801 attttcctgg agttgacaga aacacctata tttcccccag tcttccctgg gagactacta
     1861 ttaactgaaa taaatactca gagcctgaaa aaaaaaaaaa aa
//
