LOCUS       NM_005511               2328 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens melan-A (MLANA), mRNA.
ACCESSION   NM_005511
VERSION     NM_005511.2
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 2328)
  AUTHORS   Zuo,L., You,H., Cai,Z., Liao,S., Lu,X., Li,L. and Huang,W.
  TITLE     Melan-A expression in non-melanocytic carcinoma: A potential
            diagnostic pitfall
  JOURNAL   Histol Histopathol 39 (8), 1037-1041 (2024)
   PUBMED   38205829
  REMARK    GeneRIF: Melan-A expression in non-melanocytic carcinoma: A
            potential diagnostic pitfall.
REFERENCE   2  (bases 1 to 2328)
  AUTHORS   Van Winden,V.I., Wong,D.D., Wood,B.A., Filion,P. and Harvey,N.T.
  TITLE     Expression of Melan-A in cutaneous granular cell tumours: a
            diagnostic pitfall
  JOURNAL   Pathology 56 (1), 47-51 (2024)
   PUBMED   37989630
  REMARK    GeneRIF: Expression of Melan-A in cutaneous granular cell tumours:
            a diagnostic pitfall.
REFERENCE   3  (bases 1 to 2328)
  AUTHORS   Kliche,J., Garvanska,D.H., Simonetti,L., Badgujar,D.,
            Dobritzsch,D., Nilsson,J., Davey,N.E. and Ivarsson,Y.
  TITLE     Large-scale phosphomimetic screening identifies phospho-modulated
            motif-based protein interactions
  JOURNAL   Mol Syst Biol 19 (7), e11164 (2023)
   PUBMED   37219487
REFERENCE   4  (bases 1 to 2328)
  AUTHORS   de Wet,J., Plessis,P.J.D. and Schneider,J.W.
  TITLE     Staged Excision of Lentigo Maligna of the Head and Neck: Assessing
            Surgical Excision Margins With Melan A, SOX10, and PRAME
            Immunohistochemistry
  JOURNAL   Am J Dermatopathol 45 (2), 107-112 (2023)
   PUBMED   36669074
  REMARK    GeneRIF: Staged Excision of Lentigo Maligna of the Head and Neck:
            Assessing Surgical Excision Margins With Melan A, SOX10, and PRAME
            Immunohistochemistry.
REFERENCE   5  (bases 1 to 2328)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2328)
  AUTHORS   Dutoit,V., Rubio-Godoy,V., Pittet,M.J., Zippelius,A.,
            Dietrich,P.Y., Legal,F.A., Guillaume,P., Romero,P., Cerottini,J.C.,
            Houghten,R.A., Pinilla,C. and Valmori,D.
  TITLE     Degeneracy of antigen recognition as the molecular basis for the
            high frequency of naive A2/Melan-a peptide multimer(+) CD8(+) T
            cells in humans
  JOURNAL   J Exp Med 196 (2), 207-216 (2002)
   PUBMED   12119345
  REMARK    GeneRIF: The high frequency of Melan-A multimer(+) T cells can be
            explained by the existence of largely cross-reactive subsets of
            naive CD8(+) T cells displaying multiple specificities.
REFERENCE   7  (bases 1 to 2328)
  AUTHORS   Moritake,H., Sugimoto,T., Asada,Y., Yoshida,M.A., Maehara,Y.,
            Epstein,A.L. and Kuroda,H.
  TITLE     Newly established clear cell sarcoma (malignant melanoma of soft
            parts) cell line expressing melanoma-associated Melan-A antigen and
            overexpressing C-MYC oncogene
  JOURNAL   Cancer Genet Cytogenet 135 (1), 48-56 (2002)
   PUBMED   12072203
  REMARK    GeneRIF: Melanosomes from an Achilles tendon clear-cell sarcoma
            showed expression of the Melan-A gene.
REFERENCE   8  (bases 1 to 2328)
  AUTHORS   Zippelius,A., Pittet,M.J., Batard,P., Rufer,N., de Smedt,M.,
            Guillaume,P., Ellefsen,K., Valmori,D., Lienard,D., Plum,J.,
            MacDonald,H.R., Speiser,D.E., Cerottini,J.C. and Romero,P.
  TITLE     Thymic selection generates a large T cell pool recognizing a
            self-peptide in humans
  JOURNAL   J Exp Med 195 (4), 485-494 (2002)
   PUBMED   11854361
  REMARK    GeneRIF: unexpected high frequency of T cells specific for the
            self-antigen Melan-A/MART-1 in CD8 single-positive thymocytes from
            human histocompatibility leukocyte antigen-A2 healthy individuals
REFERENCE   9  (bases 1 to 2328)
  AUTHORS   Coulie,P.G., Brichard,V., Van Pel,A., Wolfel,T., Schneider,J.,
            Traversari,C., Mattei,S., De Plaen,E., Lurquin,C., Szikora,J.P.,
            Renauld,J.C. and Boon,T.
  TITLE     A new gene coding for a differentiation antigen recognized by
            autologous cytolytic T lymphocytes on HLA-A2 melanomas
  JOURNAL   J Exp Med 180 (1), 35-42 (1994)
   PUBMED   8006593
REFERENCE   10 (bases 1 to 2328)
  AUTHORS   Kawakami,Y., Eliyahu,S., Delgado,C.H., Robbins,P.F., Rivoltini,L.,
            Topalian,S.L., Miki,T. and Rosenberg,S.A.
  TITLE     Cloning of the gene coding for a shared human melanoma antigen
            recognized by autologous T cells infiltrating into tumor
  JOURNAL   Proc Natl Acad Sci U S A 91 (9), 3515-3519 (1994)
   PUBMED   8170938
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL365360.9 and U06452.1.
            
            On May 17, 2019 this sequence version replaced NM_005511.1.
            
            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 :: U06452.1, BF691815.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381477.8/ ENSP00000370886.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AL365360.9         71929-71948
            21-1544             U06452.1           1-1524
            1545-2328           AL365360.9         90863-91646
FEATURES             Location/Qualifiers
     source          1..2328
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     gene            1..2328
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /note="melan-A"
                     /db_xref="GeneID:2315"
                     /db_xref="HGNC:HGNC:7124"
                     /db_xref="MIM:605513"
     exon            1..48
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /inference="alignment:Splign:2.1.0"
     exon            49..150
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..430
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /note="antigen LB39-AA; antigen SK29-AA; protein Melan-A;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="melanoma antigen recognized by T-cells 1"
                     /protein_id="NP_005502.1"
                     /db_xref="CCDS:CCDS6466.1"
                     /db_xref="GeneID:2315"
                     /db_xref="HGNC:HGNC:7124"
                     /db_xref="MIM:605513"
                     /translation="MPREDAHFIYGYPKKGHGHSYTTAEEAAGIGILTVILGVLLLIG
                     CWYCRRRNGYRALMDKSLHVGTQCALTRRCPQEGFDHRDSKVSLQEKNCEPVVPNAPP
                     AYEKLSAEQSPPPYSP"
     exon            151..247
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /inference="alignment:Splign:2.1.0"
     exon            248..361
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /inference="alignment:Splign:2.1.0"
     exon            362..2328
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      643..648
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /note="hexamer: AATAAA"
     polyA_site      665
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /note="major polyA site"
     regulatory      1517..1522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /note="hexamer: AAGAAA"
     regulatory      1524..1529
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /note="hexamer: CATAAA"
     polyA_site      1544
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
     polyA_site      1547
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
     regulatory      2190..2195
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
                     /note="hexamer: AATGAA"
     polyA_site      2207
                     /gene="MLANA"
                     /gene_synonym="MART-1; MART1"
ORIGIN      
        1 cttcatacac gcggccagcc agcagacaga ggactctcat taaggaaggt gtcctgtgcc
       61 ctgaccctac aagatgccaa gagaagatgc tcacttcatc tatggttacc ccaagaaggg
      121 gcacggccac tcttacacca cggctgaaga ggccgctggg atcggcatcc tgacagtgat
      181 cctgggagtc ttactgctca tcggctgttg gtattgtaga agacgaaatg gatacagagc
      241 cttgatggat aaaagtcttc atgttggcac tcaatgtgcc ttaacaagaa gatgcccaca
      301 agaagggttt gatcatcggg acagcaaagt gtctcttcaa gagaaaaact gtgaacctgt
      361 ggttcccaat gctccacctg cttatgagaa actctctgca gaacagtcac caccacctta
      421 ttcaccttaa gagccagcga gacacctgag acatgctgaa attatttctc tcacactttt
      481 gcttgaattt aatacagaca tctaatgttc tcctttggaa tggtgtagga aaaatgcaag
      541 ccatctctaa taataagtca gtgttaaaat tttagtaggt ccgctagcag tactaatcat
      601 gtgaggaaat gatgagaaat attaaattgg gaaaactcca tcaataaatg ttgcaatgca
      661 tgatactatc tgtgccagag gtaatgttag taaatccatg gtgttatttt ctgagagaca
      721 gaattcaagt gggtattctg gggccatcca atttctcttt acttgaaatt tggctaataa
      781 caaactagtc aggttttcga accttgaccg acatgaactg tacacagaat tgttccagta
      841 ctatggagtg ctcacaaagg atacttttac aggttaagac aaagggttga ctggcctatt
      901 tatctgatca agaacatgtc agcaatgtct ctttgtgctc taaaattcta ttatactaca
      961 ataatatatt gtaaagatcc tatagctctt tttttttgag atggagtttc gcttttgttg
     1021 cccaggctgg agtgcaatgg cgcgatcttg gctcaccata acctccgcct cccaggttca
     1081 agcaattctc ctgccttagc ctcctgagta gctgggatta caggcgtgcg ccactatgcc
     1141 tgactaattt tgtagtttta gtagagacgg ggtttctcca tgttggtcag gctggtctca
     1201 aactcctgac ctcaggtgat ctgcccgcct cagcctccca aagtgctgga attacaggcg
     1261 tgagccacca cgcctggctg gatcctatat cttaggtaag acatataacg cagtctaatt
     1321 acatttcact tcaaggctca atgctattct aactaatgac aagtattttc tactaaacca
     1381 gaaattggta gaaggattta aataagtaaa agctactatg tactgcctta gtgctgatgc
     1441 ctgtgtactg ccttaaatgt acctatggca atttagctct cttgggttcc caaatccctc
     1501 tcacaagaat gtgcagaaga aatcataaag gatcagagat tctggaatgg tgtcattatt
     1561 tgcatagcaa cattgcaatt tgttttcctt tggctacatc aacgtatcac ctacactatt
     1621 atttatctaa tatttctctt tcaggcagct catttaaact ttttttggct ttaattccta
     1681 ttgccatcct gagtggaaaa ccagtatcat tttccatagt agaggataac tataacaacg
     1741 aagataatga aagtaatttt tttaacctaa gaaaatacta atggtcacag aaggctatga
     1801 acctgagacc tgctctcttt gtcaaacaga gattaacaag gatcagagaa aagttaaagg
     1861 ctgtctttga cataactgga aggcttacaa gagttttaaa gaaattactt tctcactata
     1921 tgattcattg ctatttaacg gtgagtcagt aaaccaccta aaaatcatct tgtctcatca
     1981 gaaacactag tgtaacataa ctgcatcatt ttctactaaa gacaaaattt caccaaaggg
     2041 gaaaaagaaa acacaggata aagagatgta ttacacacat cgaaaaaaac aacatttaac
     2101 aaaatattaa aatatttccc cactcttctg atactgtcaa gtcttactac ttaaaataag
     2161 gcttccacct ctcccacttc aaacaaataa atgaattcta aaccaaagaa acttcatcag
     2221 gcatttgggt acctcctccc ctcaccacga ggtctctgct gaacctcaat cctgtacact
     2281 gaggaacctg tggcttgaac cctacatccc tccagaaccc ccagactg
//
