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
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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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