GGRNA | NM_006029.4

LOCUS       NM_006029               2666 bp    mRNA    linear   PRI 10-NOV-2012
DEFINITION  Homo sapiens paraneoplastic Ma antigen 1 (PNMA1), mRNA.
ACCESSION   NM_006029
VERSION     NM_006029.4  GI:52486264
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 2666)
  AUTHORS   Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
            Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
            McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
            Dunham,I., Hill,D.E. and Vidal,M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
REFERENCE   2  (bases 1 to 2666)
  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   3  (bases 1 to 2666)
  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   4  (bases 1 to 2666)
  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   5  (bases 1 to 2666)
  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 Sep 22, 2004 this sequence version replaced gi:14719429.
            
            Summary: The PNMA1 gene encodes an antineuronal antibody (anti-Ma)
            present in patients with paraneoplastic neurologic disorders
            (Dalmau et al., 1999 [PubMed 10050892]). Some paraneoplastic
            syndromes affecting the nervous system are associated with
            antibodies that react with neuronal proteins and the causal tumor
            (onconeuronal antigens) (summarized by Dalmau et al., 1999 [PubMed
            10050892]). Several of these antibodies are markers of specific
            neurologic syndromes associated with distinct types of cancer. The
            presence of some antibodies is so specific that disorders
            previously identified by brain biopsy or at autopsy can be
            diagnosed serologically. The expression of neuronal proteins by the
            tumor appears to be a crucial step that breaks the immune tolerance
            for otherwise normal neuronal proteins. The identity of most
            onconeuronal antigens was established by probing human cDNA
            expression libraries with serum containing antineuronal
            antibodies.[supplied by OMIM, May 2010].
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                BG719761.1         27-110
            85-714              BG700354.1         46-675
            715-2559            AF320308.1         200-2044
            2560-2666           AL834327.1         1293-1399
FEATURES             Location/Qualifiers
     source          1..2666
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2666
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /note="paraneoplastic Ma antigen 1"
                     /db_xref="GeneID:9240"
                     /db_xref="HGNC:9158"
                     /db_xref="MIM:604010"
     exon            1..2643
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    673..675
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /note="upstream in-frame stop codon"
     CDS             787..1848
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /note="paraneoplastic neuronal antigen MA1; neuron- and
                     testis-specific protein 1; 37 kDa neuronal protein"
                     /codon_start=1
                     /product="paraneoplastic antigen Ma1"
                     /protein_id="NP_006020.4"
                     /db_xref="GI:52486265"
                     /db_xref="CCDS:CCDS9818.1"
                     /db_xref="GeneID:9240"
                     /db_xref="HGNC:9158"
                     /db_xref="MIM:604010"
                     /translation="

MAMTLLEDWCRGMDVNSQRALLVWGIPVNCDEAEIEETLQAAMPQVSYRMLGRMFWREENAKAALLELTGAVDYAAIPREMPGKGGVWKVLFKPPTSDAEFLERLHLFLAREGWTVQDVARVLGFQNPTPTPGPEMPAEMLNYILDNVIQPLVESIWYKRLTLFSGRDIPGPGEETFDPWLEHTNEVLEEWQVSDVEKRRRLMESLRGPAADVIRILKSNNPAITTAECLKALEQVFGSVESSRDAQIKFLNTYQNPGEKLSAYVIRLEPLLQKVVEKGAIDKDNVNQARLEQVIAGANHSGAIRRQLWLTGAGEGPAPNLFQLLVQIREEEAKEEEEEAEATLLQLGLEGHF

"
     STS             1021..1495
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /standard_name="MARC_13971-13972:1010423493:1"
                     /db_xref="UniSTS:267631"
     variation       1056
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3179543"
     variation       1364
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199765926"
     STS             2423..2573
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /standard_name="HSC0RE052"
                     /db_xref="UniSTS:68160"
     polyA_signal    2623..2628
                     /gene="PNMA1"
                     /gene_synonym="MA1"
     polyA_site      2640
                     /gene="PNMA1"
                     /gene_synonym="MA1"
                     /experiment="experimental evidence, no additional details
                     recorded"
     polyA_site      2643
                     /gene="PNMA1"
                     /gene_synonym="MA1"
ORIGIN

ggggcggacgccgctcgccggctggccccatcctccactgcagcagtaacgtcgcggcgggttgcgggtaggactggacgccagagcagccgcgcagcgcctgaaccgctgcgggccgccgcggccgccccttcccaccctcgcctctgctgtctccagcctcgcttctccgactttcctgctcctctgctgccttcgtttctggtcctcggccgtcctcgccgcccgcccagaggagtccccgcgcccgccaagaagccgctttccgctggcccgcagccgccgcgacttcggcacagtttctccctctggctagtctcccaaacggccgctcctcgcccgcgggaagaccaggctgcgaccgcgaacgcccgatcctctccaggagccgcagcgagcgcccggcggccacgccccgcgaccacaccccggcggctctcggcccagcgcgcctgccttcgccgcccgccgtcgctcctcgcccgctgcacgacgacgcgacgcccctgctgcaggcggcggacccgaccggacccagacccagacgcaagatggcgacggccgcgtgactgcctcagcgtccccgagctcggctccgagtgcacctacggactgactgtgggggcagagaagggcgagatcaggactctgtctttgttaatcgtgactgcatgaaggtcgcctccctcgggcctacttggtgggagtgtctggtattgttctaaggccaggagcacggtgagccacagtctgttggtagaatttggcgtcttgatagttgagaaaatggcgatgacactgttggaagactggtgccgggggatggatgtgaactcccagagagctctgttagtctggggcatcccagtgaactgtgatgaggctgaaatcgaagagaccctccaggctgcgatgccccaggtctcctaccgaatgcttgggagaatgttctggagggaagaaaatgcgaaagcagccttattagagctcactggcgctgtagattacgccgcgatccccagggagatgccgggcaaaggaggggtctggaaagtgttatttaagcccccaacttctgatgctgaatttttagaaagattgcacctcttcctagctagagaggggtggaccgtgcaagatgttgcccgtgtccttgggtttcagaaccctactccgaccccgggcccagagatgccagcagagatgctaaactatattttggataatgttattcagcctcttgttgagtccatatggtacaagaggctgacacttttctcggggagggacatcccagggcctggagaggaaacctttgatccctggctggagcacactaatgaggtcctagaggagtggcaggtgtccgatgtagaaaagaggcggcggttgatggagagtcttagaggccccgccgctgatgttattcgcatccttaagtccaacaaccccgcgataaccactgccgaatgcctgaaggcgcttgagcaggtgtttgggagcgttgagagctctagggatgcccagatcaaatttctgaacacttatcagaacccgggagaaaaattgtctgcttatgtcattcgtctggagcctctgctacagaaggtggtagagaagggggccattgataaagataatgtgaaccaggcccgcctagagcaggtcattgccggggccaaccacagcggggccatccgaaggcagctgtggcttaccggggctggggaagggccagccccaaacctctttcagttgctggtgcagatccgtgaggaggaagccaaggaggaggaggaggaggctgaggccacccttctgcagttaggcctggaagggcacttctgagtgccaggaaaggcagctttagtgcagacctagatcacagctacttttcttgtccctgtggggtcttacagatgtgtctctgagtagtaaaggcttagccttgttctgttttgttgttttttggaggggaaggttagtcaggcctgagtattcatgtaacattctaaaattgtgccagcgagcaccgtgaacgactgcaatgcaagcgggtcttgctggctaaaatgccaggtaaagggttggttggacacagcgcttagtgcacgctgtcatcatggacatcataatcagttgtgaaaaacacgcgaacctatgacacttcttattccacactgaatgtgaaattgcatgttcagatgtttactacgaggcctggctcacaggaagtgttcagtaaaagtatgcactgttagattactgataacgcggatagatttttgtttaccataaattgttccagatttatattaatggaaggaagtgtgcatttattagctattactcaactttacaatgcaaacatcttatttctcatctttaaacatgtcgaccagtttaattgaaaagtattctgagactgcaaaatggggtgttaaaaaatactgcagttacggagctgtgtaaaccagtttctcattgcataagatacagatgtaaattgcatggagaggttgatatgcacctgtacagtaattcactcccccatttcacatctttgtcagagaatagttcttgttcatactgagtgttctaaatttgaagttatatatacaaattaaaatattttaaaaattcaaaaaaaaaaaaaaaaaaaaaaa

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