LOCUS       NM_001184924            3188 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens PNMA family member 5 (PNMA5), transcript variant 4,
            mRNA.
ACCESSION   NM_001184924
VERSION     NM_001184924.2
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 3188)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3188)
  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   3  (bases 1 to 3188)
  AUTHORS   Pineau,C., Hikmet,F., Zhang,C., Oksvold,P., Chen,S., Fagerberg,L.,
            Uhlen,M. and Lindskog,C.
  TITLE     Cell Type-Specific Expression of Testis Elevated Genes Based on
            Transcriptomics and Antibody-Based Proteomics
  JOURNAL   J Proteome Res 18 (12), 4215-4230 (2019)
   PUBMED   31429579
REFERENCE   4  (bases 1 to 3188)
  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 3188)
  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 3188)
  AUTHORS   Lee,Y.H., Pang,S.W., Poh,C.L. and Tan,K.O.
  TITLE     Distinct functional domains of PNMA5 mediate protein-protein
            interaction, nuclear localization, and apoptosis signaling in human
            cancer cells
  JOURNAL   J Cancer Res Clin Oncol 142 (9), 1967-1977 (2016)
   PUBMED   27424190
  REMARK    GeneRIF: PNMA5 promotes apoptosis signaling in HeLa and MCF-7 cells
            and interacts synergistically with MOAP-1 through its N-terminal
            domain to promote apoptosis and chemo-sensitivity in human cancer
            cells. The C-terminal domain of PNMA5 is required for nuclear
            localization; however, both N-and C-terminal domains of PNMA5
            appear to be required for pro-apoptotic function.
REFERENCE   7  (bases 1 to 3188)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001184924.1.
            
            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 :: DC404120.1, DC403825.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000535214.6/ ENSP00000445775.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-465               DC401753.1         12-476
            466-3185            AY121806.1         475-3194
            3186-3188           AA732768.1         5-7                 c
FEATURES             Location/Qualifiers
     source          1..3188
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3188
                     /gene="PNMA5"
                     /note="PNMA family member 5"
                     /db_xref="GeneID:114824"
                     /db_xref="HGNC:HGNC:18743"
                     /db_xref="MIM:300916"
     exon            1..84
                     /gene="PNMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            85..214
                     /gene="PNMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            215..290
                     /gene="PNMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            291..3188
                     /gene="PNMA5"
                     /inference="alignment:Splign:2.1.0"
     CDS             414..1760
                     /gene="PNMA5"
                     /note="tumor antigen BJ-HCC-25; paraneoplastic Ma antigen
                     family member 5"
                     /codon_start=1
                     /product="paraneoplastic antigen-like protein 5"
                     /protein_id="NP_001171853.1"
                     /db_xref="CCDS:CCDS14718.1"
                     /db_xref="GeneID:114824"
                     /db_xref="HGNC:HGNC:18743"
                     /db_xref="MIM:300916"
                     /translation="MALTLLEDWCKGMDMDPRKALLIVGIPMECSEVEIQDTVKAGLQ
                     PLCAYRVLGRMFRREDNAKAVFIELADTVNYTTLPSHIPGKGGSWEVVVKPRNPDDEF
                     LSRLNYFLKDEGRSMTDVARALGCCSLPAESLDAEVMPQVRSPPLEPPKESMWYRKLK
                     VFSGTASPSPGEETFEDWLEQVTEIMPIWQVSEVEKRRRLLESLRGPALSIMRVLQAN
                     NDSITVEQCLDALKQIFGDKEDFRASQFRFLQTSPKIGEKVSTFLLRLEPLLQKAVHK
                     SPLSVRSTDMIRLKHLLARVAMTPALRGKLELLDQRGCPPNFLELMKLIRDEEEWENT
                     EAVMKNKEKPSGRGRGASGRQARAEASVSAPQATVQARSFSDSSPQTIQGGLPPLVKR
                     RRLLGSESTRGEDHGQATYPKAENQTPGREGPQAAGEELGNEAGAGAMSHPKPWET"
     regulatory      3166..3171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNMA5"
                     /note="hexamer: AGTAAA"
     polyA_site      3188
                     /gene="PNMA5"
                     /note="major polyA site"
ORIGIN      
        1 gcagtcagca cggaggcggc agccgccata gacgtgtggt ggtcgcgctg cgcgggaact
       61 ccggcttgga ggcacctccg gcagatccag tgaagcagga cccatcacgc ctgagtcagg
      121 aactgcctaa ctggatagag ttgaaaagca gagcgagtct gaagtggctg tgttattgca
      181 gcatccgcgc tgccagcagg gccaacccag caaggcaccc gaagcacaca cagcagagtc
      241 ctctggactt tgaggaagaa cccacagcag gaggaagtca gcagggagtg gctgtgtgaa
      301 acctgggacc acttctgcct tcctacgtgg cagtggctca gagttatttg agtgctgtca
      361 aactgagctg attgctgccc tagtattaga tcagtccata gaaagtggga gcaatggcac
      421 tgacactgct agaggattgg tgcaagggga tggacatgga ccccagaaag gccctgctga
      481 ttgtaggcat ccccatggag tgtagtgagg tggaaattca ggacactgtg aaggcaggct
      541 tacagcccct gtgcgcatac agggtcctag ggagaatgtt caggagggaa gacaatgcca
      601 aggcagtctt cattgaactg gctgacactg tcaattacac tactctgccc agtcacatac
      661 caggaaaggg tggctcctgg gaagtggtgg taaaaccccg taacccagat gatgagtttc
      721 tcagtagact gaactacttc ctgaaagatg agggccgaag tatgacagat gtggccagag
      781 ccctgggatg ttgcagcctc cctgccgaga gcctggatgc agaggtcatg ccccaagtta
      841 gatccccacc tttagagcct ccgaaagaaa gtatgtggta caggaaactg aaagtgtttt
      901 cgggaactgc ttcccctagc ccaggcgaag agacctttga agactggcta gagcaggtca
      961 ctgagataat gcccatatgg caagtgtctg aggtggagaa gaggcggcgt ttgctggaga
     1021 gcttacgtgg gcctgctctg tcaatcatgc gggtgctcca ggccaacaat gactccataa
     1081 ctgtggagca gtgccttgac gccctaaagc agatctttgg ggataaagag gactttagag
     1141 cctctcagtt taggtttctg cagacctctc cgaagattgg agagaaagtc tccactttcc
     1201 tgctgcgctt agagcccctg ctgcagaaag ccgtgcacaa gagccccttg tcagtgcgca
     1261 gcacagacat gattcgtctg aaacatctct tagctcgggt cgccatgacc cccgccctca
     1321 ggggcaagct ggagctcttg gatcagcgag ggtgtcctcc caattttctg gagttaatga
     1381 agctcattcg agatgaagaa gagtgggaga acactgaggc agtgatgaag aataaggaga
     1441 agccatcagg gagaggccgg ggggcctccg gtagacaggc aagagcagaa gccagtgtct
     1501 ctgcacctca ggccaccgtg caggcaaggt cttttagcga cagcagcccc cagaccatac
     1561 agggaggctt acccccatta gtgaaacgca ggcggctgtt aggcagtgaa agcactaggg
     1621 gagaagacca tggccaggcc acgtatccca aggctgaaaa ccagactcca ggcagggagg
     1681 ggccacaggc tgcaggagag gagttgggaa acgaggcagg ggctggggcc atgagccatc
     1741 ccaagccctg ggaaacatag gctcagaaga ccgaagcact ccttcccctg gcaggcagca
     1801 gggacatttg aacaagggga aggggcagct tacactaaca gggaacttga ctggggcaga
     1861 gggacaggga agccaggtcg agatcaagcc cccttacttt ccaccagctg gaagggactt
     1921 caccaaccaa gaccaaatag catctggttc agtgggggcc gggcccatag cccctaacag
     1981 gtacaggaga cacaagcggg gaaccactac acttagcaca tggggtgcct gggcttcaga
     2041 tggggacccc agcgaagcag gggctgaaga aggtgtggct gggggctctg gcctggtcct
     2101 ctggacaccc ccaaatatct accctgtgga ctttgagctg agcatgccca ctggcaccca
     2161 ggccacgtgg gacctggagg agcctgcctg gggcctgcct ctgccagaag gagccagggc
     2221 tgctgaggaa gagctgtggg gcagaagtga agccccgcag gggaggccac agggtccagc
     2281 ctgtctttag gatcatctac actgcatgag gggagcccca ggaaggcagc attcataagc
     2341 ccctgcacca gtgaggaaga gaaagaggag gagaattaag aagaggatga tcgggaggag
     2401 gaagaggaga ataaggagga gcaggaggaa gagggggagg agaaggagga agagggggag
     2461 gaggaagagg ggaaggagga ggaagaagtg taagaagaga agagaggatg tgttgggggt
     2521 gggtagttgt ttttggtttg cgtcatcatc aggcccgggc tctgctcact gctgttccgt
     2581 gtcaagaact ccacctctgc tttgccggtg tagatctcgg ccagtggctg cttgttctct
     2641 tggggatgtg tgtgttttta tctgagcagc tcctttccag agtaccccag cgcagttcca
     2701 ggagacggtg ggaaggaggc atggcagacg ctcaccttgt gactgtgacc tcgactgcag
     2761 gaggaccaac cagacacggg aaggagcagg gctgcctgag gctccccagg aagctttgtg
     2821 ctttggcgtt ccacccctgc tgttactcgt gactcagttt cctcaacttg gtggggtgtt
     2881 ccctgctatg ttttccagca tcctgtgact gtcctgtgca gtctataggg cagggccctg
     2941 ccccagcggg tgggctcagg agggggttcc ctgaagcgag tacacattgc cagagcccac
     3001 catcctggca agaggtggat cctggggccc tatggaagga gggatgtggt ggggggggcc
     3061 acactgaggg aggggccggg gacttgtgac ctgtagtggc tgtttgcagt ttctctctgt
     3121 gttagattcc cttttcttca gcagtttcag ttcatgtttc tcttcagtaa attttgttca
     3181 gtgttcca
//
