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2024-03-29 13:47:16, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001184924            3203 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens paraneoplastic Ma antigen family member 5 (PNMA5),
            transcript variant 4, mRNA.
ACCESSION   NM_001184924
VERSION     NM_001184924.1  GI:296531421
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 3203)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC401753.1, AY121806.1 and
            AA732768.1.
            
            Summary: This gene encodes a member of the paraneoplastic Ma
            antigen protein family. These proteins have been implicated in the
            development of paraneoplastic disorders resulting from an immune
            response directed against them. Paraneoplastic disorders are the
            result of an abnormal immune response to a tumor. Multiple
            alternatively spliced variants, encoding the same protein, have
            been identified. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 2. All four variants encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DC401753.1, DC404120.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-476               DC401753.1         1-476
            477-3196            AY121806.1         475-3194
            3197-3203           AA732768.1         1-7                 c
FEATURES             Location/Qualifiers
     source          1..3203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3203
                     /gene="PNMA5"
                     /note="paraneoplastic Ma antigen family member 5"
                     /db_xref="GeneID:114824"
                     /db_xref="HGNC:18743"
     exon            1..95
                     /gene="PNMA5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(46)
                     /gene="PNMA5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:190258454"
     variation       complement(73)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185302431"
     exon            96..225
                     /gene="PNMA5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(108)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:145208203"
     variation       complement(149)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:111337457"
     exon            226..301
                     /gene="PNMA5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(263)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:185556809"
     variation       complement(287)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:67383647"
     exon            302..3199
                     /gene="PNMA5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(373)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368167670"
     misc_feature    410..412
                     /gene="PNMA5"
                     /note="upstream in-frame stop codon"
     variation       complement(420)
                     /gene="PNMA5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373727785"
     CDS             425..1771
                     /gene="PNMA5"
                     /note="tumor antigen BJ-HCC-25"
                     /codon_start=1
                     /product="paraneoplastic antigen-like protein 5"
                     /protein_id="NP_001171853.1"
                     /db_xref="GI:296531422"
                     /db_xref="CCDS:CCDS14718.1"
                     /db_xref="GeneID:114824"
                     /db_xref="HGNC:18743"
                     /translation="
MALTLLEDWCKGMDMDPRKALLIVGIPMECSEVEIQDTVKAGLQPLCAYRVLGRMFRREDNAKAVFIELADTVNYTTLPSHIPGKGGSWEVVVKPRNPDDEFLSRLNYFLKDEGRSMTDVARALGCCSLPAESLDAEVMPQVRSPPLEPPKESMWYRKLKVFSGTASPSPGEETFEDWLEQVTEIMPIWQVSEVEKRRRLLESLRGPALSIMRVLQANNDSITVEQCLDALKQIFGDKEDFRASQFRFLQTSPKIGEKVSTFLLRLEPLLQKAVHKSPLSVRSTDMIRLKHLLARVAMTPALRGKLELLDQRGCPPNFLELMKLIRDEEEWENTEAVMKNKEKPSGRGRGASGRQARAEASVSAPQATVQARSFSDSSPQTIQGGLPPLVKRRRLLGSESTRGEDHGQATYPKAENQTPGREGPQAAGEELGNEAGAGAMSHPKPWET
"
     variation       complement(486)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:370233185"
     variation       complement(533)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150452691"
     variation       complement(545)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140534157"
     variation       complement(557)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201729365"
     variation       complement(559)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148357143"
     variation       complement(560)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146467932"
     variation       complement(565)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375427411"
     variation       complement(566)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200173729"
     variation       complement(583)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371164310"
     variation       complement(624)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200533836"
     variation       complement(639)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201596972"
     variation       complement(656)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377260067"
     variation       complement(682)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142445857"
     variation       complement(697)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147665095"
     variation       complement(710)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145394099"
     variation       complement(743)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3810655"
     variation       complement(749)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373163204"
     variation       complement(752)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370616990"
     variation       complement(770)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377604389"
     variation       complement(771)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186142178"
     variation       complement(839)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373123354"
     variation       complement(852)
                     /gene="PNMA5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142107812"
     variation       complement(874)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148898774"
     variation       complement(897)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:199625105"
     variation       complement(997)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368937649"
     variation       complement(1030)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:180860237"
     variation       complement(1037)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376216037"
     variation       complement(1104)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145599651"
     variation       complement(1111)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:16996773"
     variation       complement(1131)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139544398"
     variation       complement(1205)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146002134"
     variation       complement(1244)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144036507"
     variation       complement(1250)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373785136"
     variation       complement(1259)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369933332"
     variation       complement(1268)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145041482"
     variation       complement(1269)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202118909"
     variation       complement(1313)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146175766"
     variation       complement(1321)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376462955"
     variation       complement(1324)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141321283"
     variation       complement(1359)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148198587"
     variation       complement(1363)
                     /gene="PNMA5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:144825466"
     variation       complement(1365)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149432346"
     variation       complement(1406)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372145352"
     variation       complement(1469)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3810654"
     variation       complement(1470)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190430069"
     variation       complement(1481)
                     /gene="PNMA5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:139204252"
     variation       complement(1482)
                     /gene="PNMA5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:187206876"
     variation       complement(1549)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369163473"
     variation       complement(1567)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375022700"
     variation       complement(1586)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146856394"
     variation       complement(1588)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:56350208"
     variation       complement(1676)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:201866229"
     variation       complement(1682)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371679002"
     variation       complement(1709)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367619281"
     variation       complement(1736)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181676481"
     variation       complement(1749)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150433338"
     variation       complement(1773)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373696184"
     variation       complement(1783)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372640062"
     variation       complement(1813)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150390959"
     variation       complement(1877..1878)
                     /gene="PNMA5"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:34881378"
     variation       complement(1978)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:140457937"
     variation       complement(2489)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151001830"
     variation       complement(2530)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188946338"
     variation       complement(2540)
                     /gene="PNMA5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:184484873"
     variation       complement(2552)
                     /gene="PNMA5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191861974"
     variation       complement(2590)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372160458"
     variation       complement(2764)
                     /gene="PNMA5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368335324"
ORIGIN      
agcctcgtggcgcagtcagcacggaggcggcagccgccatagacgtgtggtggtcgcgctgcgcgggaactccggcttggaggcacctccggcagatccagtgaagcaggacccatcacgcctgagtcaggaactgcctaactggatagagttgaaaagcagagcgagtctgaagtggctgtgttattgcagcatccgcgctgccagcagggccaacccagcaaggcacccgaagcacacacagcagagtcctctggactttgaggaagaacccacagcaggaggaagtcagcagggagtggctgtgtgaaacctgggaccacttctgccttcctacgtggcagtggctcagagttatttgagtgctgtcaaactgagctgattgctgccctagtattagatcagtccatagaaagtgggagcaatggcactgacactgctagaggattggtgcaaggggatggacatggaccccagaaaggccctgctgattgtaggcatccccatggagtgtagtgaggtggaaattcaggacactgtgaaggcaggcttacagcccctgtgcgcatacagggtcctagggagaatgttcaggagggaagacaatgccaaggcagtcttcattgaactggctgacactgtcaattacactactctgcccagtcacataccaggaaagggtggctcctgggaagtggtggtaaaaccccgtaacccagatgatgagtttctcagtagactgaactacttcctgaaagatgagggccgaagtatgacagatgtggccagagccctgggatgttgcagcctccctgccgagagcctggatgcagaggtcatgccccaagttagatccccacctttagagcctccgaaagaaagtatgtggtacaggaaactgaaagtgttttcgggaactgcttcccctagcccaggcgaagagacctttgaagactggctagagcaggtcactgagataatgcccatatggcaagtgtctgaggtggagaagaggcggcgtttgctggagagcttacgtgggcctgctctgtcaatcatgcgggtgctccaggccaacaatgactccataactgtggagcagtgccttgacgccctaaagcagatctttggggataaagaggactttagagcctctcagtttaggtttctgcagacctctccgaagattggagagaaagtctccactttcctgctgcgcttagagcccctgctgcagaaagccgtgcacaagagccccttgtcagtgcgcagcacagacatgattcgtctgaaacatctcttagctcgggtcgccatgacccccgccctcaggggcaagctggagctcttggatcagcgagggtgtcctcccaattttctggagttaatgaagctcattcgagatgaagaagagtgggagaacactgaggcagtgatgaagaataaggagaagccatcagggagaggccggggggcctccggtagacaggcaagagcagaagccagtgtctctgcacctcaggccaccgtgcaggcaaggtcttttagcgacagcagcccccagaccatacagggaggcttacccccattagtgaaacgcaggcggctgttaggcagtgaaagcactaggggagaagaccatggccaggccacgtatcccaaggctgaaaaccagactccaggcagggaggggccacaggctgcaggagaggagttgggaaacgaggcaggggctggggccatgagccatcccaagccctgggaaacataggctcagaagaccgaagcactccttcccctggcaggcagcagggacatttgaacaaggggaaggggcagcttacactaacagggaacttgactggggcagagggacagggaagccaggtcgagatcaagcccccttactttccaccagctggaagggacttcaccaaccaagaccaaatagcatctggttcagtgggggccgggcccatagcccctaacaggtacaggagacacaagcggggaaccactacacttagcacatggggtgcctgggcttcagatggggaccccagcgaagcaggggctgaagaaggtgtggctgggggctctggcctggtcctctggacacccccaaatatctaccctgtggactttgagctgagcatgcccactggcacccaggccacgtgggacctggaggagcctgcctggggcctgcctctgccagaaggagccagggctgctgaggaagagctgtggggcagaagtgaagccccgcaggggaggccacagggtccagcctgtctttaggatcatctacactgcatgaggggagccccaggaaggcagcattcataagcccctgcaccagtgaggaagagaaagaggaggagaattaagaagaggatgatcgggaggaggaagaggagaataaggaggagcaggaggaagagggggaggagaaggaggaagagggggaggaggaagaggggaaggaggaggaagaagtgtaagaagagaagagaggatgtgttgggggtgggtagttgtttttggtttgcgtcatcatcaggcccgggctctgctcactgctgttccgtgtcaagaactccacctctgctttgccggtgtagatctcggccagtggctgcttgttctcttggggatgtgtgtgtttttatctgagcagctcctttccagagtaccccagcgcagttccaggagacggtgggaaggaggcatggcagacgctcaccttgtgactgtgacctcgactgcaggaggaccaaccagacacgggaaggagcagggctgcctgaggctccccaggaagctttgtgctttggcgttccacccctgctgttactcgtgactcagtttcctcaacttggtggggtgttccctgctatgttttccagcatcctgtgactgtcctgtgcagtctatagggcagggccctgccccagcgggtgggctcaggagggggttccctgaagcgagtacacattgccagagcccaccatcctggcaagaggtggatcctggggccctatggaaggagggatgtggtggggggggccacactgagggaggggccggggacttgtgacctgtagtggctgtttgcagtttctctctgtgttagattcccttttcttcagcagtttcagttcatgtttctcttcagtaaattttgttcagtgttccaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:114824 -> Biological process: GO:0006915 [apoptotic process] evidence: NAS

by @meso_cacase at DBCLS
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