LOCUS       NM_006029               2602 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens PNMA family member 1 (PNMA1), mRNA.
ACCESSION   NM_006029
VERSION     NM_006029.5
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 2602)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 2602)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2602)
  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   4  (bases 1 to 2602)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2602)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 2602)
  AUTHORS   Schuller,M., Jenne,D. and Voltz,R.
  TITLE     The human PNMA family: novel neuronal proteins implicated in
            paraneoplastic neurological disease
  JOURNAL   J Neuroimmunol 169 (1-2), 172-176 (2005)
   PUBMED   16214224
REFERENCE   7  (bases 1 to 2602)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   8  (bases 1 to 2602)
  AUTHORS   Pellkofer,H., Schubart,A.S., Hoftberger,R., Schutze,N., Pagany,M.,
            Schuller,M., Lassmann,H., Hohlfeld,R., Voltz,R. and Linington,C.
  TITLE     Modelling paraneoplastic CNS disease: T-cells specific for the
            onconeuronal antigen PNMA1 mediate autoimmune encephalomyelitis in
            the rat
  JOURNAL   Brain 127 (Pt 8), 1822-1830 (2004)
   PUBMED   15201193
REFERENCE   9  (bases 1 to 2602)
  AUTHORS   Brajenovic,M., Joberty,G., Kuster,B., Bouwmeester,T. and Drewes,G.
  TITLE     Comprehensive proteomic analysis of human Par protein complexes
            reveals an interconnected protein network
  JOURNAL   J Biol Chem 279 (13), 12804-12811 (2004)
   PUBMED   14676191
REFERENCE   10 (bases 1 to 2602)
  AUTHORS   Dalmau,J., Gultekin,S.H., Voltz,R., Hoard,R., DesChamps,T.,
            Balmaceda,C., Batchelor,T., Gerstner,E., Eichen,J., Frennier,J.,
            Posner,J.B. and Rosenfeld,M.R.
  TITLE     Ma1, a novel neuron- and testis-specific protein, is recognized by
            the serum of patients with paraneoplastic neurological disorders
  JOURNAL   Brain 122 (Pt 1), 27-39 (1999)
   PUBMED   10050892
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG719761.1, BG700354.1, AF320308.1 and AL834327.1.
            
            On May 17, 2019 this sequence version replaced NM_006029.4.
            
            Summary: This gene encodes a neuron- and testis-specific protein
            that is also expressed in some paraneoplastic syndromes affecting
            the nervous system. Some patients with neurologic disorders develop
            antibodies against the protein encoded by this gene. The
            identification of the antineuronal antibodies in the sera of these
            patients has facilitated the diagnosis of paraneoplastic
            neurological disorders and the early detection of the associated
            tumors. [provided by RefSeq, Feb 2014].
            
            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 is intronless :: BC039577.1, SRR3476690.1079711.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316836.5/ ENSP00000318914.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                BG719761.1         68-110
            44-673              BG700354.1         46-675
            674-2518            AF320308.1         200-2044
            2519-2602           AL834327.1         1293-1376
FEATURES             Location/Qualifiers
     source          1..2602
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2602
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /note="PNMA family member 1"
                     /db_xref="GeneID:9240"
                     /db_xref="HGNC:HGNC:9158"
                     /db_xref="MIM:604010"
     exon            1..2602
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             746..1807
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /note="paraneoplastic neuronal antigen MA1; neuron- and
                     testis-specific protein 1; 37 kDa neuronal protein;
                     paraneoplastic Ma antigen 1"
                     /codon_start=1
                     /product="paraneoplastic antigen Ma1"
                     /protein_id="NP_006020.4"
                     /db_xref="CCDS:CCDS9818.1"
                     /db_xref="GeneID:9240"
                     /db_xref="HGNC:HGNC:9158"
                     /db_xref="MIM:604010"
                     /translation="MAMTLLEDWCRGMDVNSQRALLVWGIPVNCDEAEIEETLQAAMP
                     QVSYRMLGRMFWREENAKAALLELTGAVDYAAIPREMPGKGGVWKVLFKPPTSDAEFL
                     ERLHLFLAREGWTVQDVARVLGFQNPTPTPGPEMPAEMLNYILDNVIQPLVESIWYKR
                     LTLFSGRDIPGPGEETFDPWLEHTNEVLEEWQVSDVEKRRRLMESLRGPAADVIRILK
                     SNNPAITTAECLKALEQVFGSVESSRDAQIKFLNTYQNPGEKLSAYVIRLEPLLQKVV
                     EKGAIDKDNVNQARLEQVIAGANHSGAIRRQLWLTGAGEGPAPNLFQLLVQIREEEAK
                     EEEEEAEATLLQLGLEGHF"
     regulatory      2582..2587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /note="hexamer: ATTAAA"
     polyA_site      2602
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /note="major polyA site"
ORIGIN      
        1 agcagtaacg tcgcggcggg ttgcgggtag gactggacgc cagagcagcc gcgcagcgcc
       61 tgaaccgctg cgggccgccg cggccgcccc ttcccaccct cgcctctgct gtctccagcc
      121 tcgcttctcc gactttcctg ctcctctgct gccttcgttt ctggtcctcg gccgtcctcg
      181 ccgcccgccc agaggagtcc ccgcgcccgc caagaagccg ctttccgctg gcccgcagcc
      241 gccgcgactt cggcacagtt tctccctctg gctagtctcc caaacggccg ctcctcgccc
      301 gcgggaagac caggctgcga ccgcgaacgc ccgatcctct ccaggagccg cagcgagcgc
      361 ccggcggcca cgccccgcga ccacaccccg gcggctctcg gcccagcgcg cctgccttcg
      421 ccgcccgccg tcgctcctcg cccgctgcac gacgacgcga cgcccctgct gcaggcggcg
      481 gacccgaccg gacccagacc cagacgcaag atggcgacgg ccgcgtgact gcctcagcgt
      541 ccccgagctc ggctccgagt gcacctacgg actgactgtg ggggcagaga agggcgagat
      601 caggactctg tctttgttaa tcgtgactgc atgaaggtcg cctccctcgg gcctacttgg
      661 tgggagtgtc tggtattgtt ctaaggccag gagcacggtg agccacagtc tgttggtaga
      721 atttggcgtc ttgatagttg agaaaatggc gatgacactg ttggaagact ggtgccgggg
      781 gatggatgtg aactcccaga gagctctgtt agtctggggc atcccagtga actgtgatga
      841 ggctgaaatc gaagagaccc tccaggctgc gatgccccag gtctcctacc gaatgcttgg
      901 gagaatgttc tggagggaag aaaatgcgaa agcagcctta ttagagctca ctggcgctgt
      961 agattacgcc gcgatcccca gggagatgcc gggcaaagga ggggtctgga aagtgttatt
     1021 taagccccca acttctgatg ctgaattttt agaaagattg cacctcttcc tagctagaga
     1081 ggggtggacc gtgcaagatg ttgcccgtgt ccttgggttt cagaacccta ctccgacccc
     1141 gggcccagag atgccagcag agatgctaaa ctatattttg gataatgtta ttcagcctct
     1201 tgttgagtcc atatggtaca agaggctgac acttttctcg gggagggaca tcccagggcc
     1261 tggagaggaa acctttgatc cctggctgga gcacactaat gaggtcctag aggagtggca
     1321 ggtgtccgat gtagaaaaga ggcggcggtt gatggagagt cttagaggcc ccgccgctga
     1381 tgttattcgc atccttaagt ccaacaaccc cgcgataacc actgccgaat gcctgaaggc
     1441 gcttgagcag gtgtttggga gcgttgagag ctctagggat gcccagatca aatttctgaa
     1501 cacttatcag aacccgggag aaaaattgtc tgcttatgtc attcgtctgg agcctctgct
     1561 acagaaggtg gtagagaagg gggccattga taaagataat gtgaaccagg cccgcctaga
     1621 gcaggtcatt gccggggcca accacagcgg ggccatccga aggcagctgt ggcttaccgg
     1681 ggctggggaa gggccagccc caaacctctt tcagttgctg gtgcagatcc gtgaggagga
     1741 agccaaggag gaggaggagg aggctgaggc cacccttctg cagttaggcc tggaagggca
     1801 cttctgagtg ccaggaaagg cagctttagt gcagacctag atcacagcta cttttcttgt
     1861 ccctgtgggg tcttacagat gtgtctctga gtagtaaagg cttagccttg ttctgttttg
     1921 ttgttttttg gaggggaagg ttagtcaggc ctgagtattc atgtaacatt ctaaaattgt
     1981 gccagcgagc accgtgaacg actgcaatgc aagcgggtct tgctggctaa aatgccaggt
     2041 aaagggttgg ttggacacag cgcttagtgc acgctgtcat catggacatc ataatcagtt
     2101 gtgaaaaaca cgcgaaccta tgacacttct tattccacac tgaatgtgaa attgcatgtt
     2161 cagatgttta ctacgaggcc tggctcacag gaagtgttca gtaaaagtat gcactgttag
     2221 attactgata acgcggatag atttttgttt accataaatt gttccagatt tatattaatg
     2281 gaaggaagtg tgcatttatt agctattact caactttaca atgcaaacat cttatttctc
     2341 atctttaaac atgtcgacca gtttaattga aaagtattct gagactgcaa aatggggtgt
     2401 taaaaaatac tgcagttacg gagctgtgta aaccagtttc tcattgcata agatacagat
     2461 gtaaattgca tggagaggtt gatatgcacc tgtacagtaa ttcactcccc catttcacat
     2521 ctttgtcaga gaatagttct tgttcatact gagtgttcta aatttgaagt tatatataca
     2581 aattaaaata ttttaaaaat tc
//
