LOCUS       NM_001326419            2664 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens phosphatidylserine decarboxylase (PISD), transcript
            variant 11, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001326419
VERSION     NM_001326419.2
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 2664)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2664)
  AUTHORS   Kumar,S., Chitraju,C., Farese,R.V. Jr., Walther,T.C. and Burd,C.G.
  TITLE     Conditional targeting of phosphatidylserine decarboxylase to lipid
            droplets
  JOURNAL   Biol Open 10 (3) (2021)
   PUBMED   33593792
  REMARK    GeneRIF: Conditional targeting of phosphatidylserine decarboxylase
            to lipid droplets.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2664)
  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 2664)
  AUTHORS   Zhao,T., Goedhart,C.M., Sam,P.N., Sabouny,R., Lingrell,S.,
            Cornish,A.J., Lamont,R.E., Bernier,F.P., Sinasac,D.,
            Parboosingh,J.S., Vance,J.E., Claypool,S.M., Innes,A.M. and
            Shutt,T.E.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     PISD is a mitochondrial disease gene causing skeletal dysplasia,
            cataracts, and white matter changes
  JOURNAL   Life Sci Alliance 2 (2), e201900353 (2019)
   PUBMED   30858161
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2664)
  AUTHORS   Girisha,K.M., von Elsner,L., Neethukrishna,K., Muranjan,M.,
            Shukla,A., Bhavani,G.S., Nishimura,G., Kutsche,K. and Mortier,G.
  TITLE     The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated
            with a Spondyloepimetaphyseal dysplasia with large epiphyses and
            disturbed mitochondrial function
  JOURNAL   Hum Mutat 40 (3), 299-309 (2019)
   PUBMED   30488656
  REMARK    GeneRIF: the biallelic hypomorphic PISD variant p.(Cys266Tyr) is
            associated with a novel Spondyloepimetaphyseal dysplasias form.
REFERENCE   6  (bases 1 to 2664)
  AUTHORS   Cheng,J., Kapranov,P., Drenkow,J., Dike,S., Brubaker,S., Patel,S.,
            Long,J., Stern,D., Tammana,H., Helt,G., Sementchenko,V.,
            Piccolboni,A., Bekiranov,S., Bailey,D.K., Ganesh,M., Ghosh,S.,
            Bell,I., Gerhard,D.S. and Gingeras,T.R.
  TITLE     Transcriptional maps of 10 human chromosomes at 5-nucleotide
            resolution
  JOURNAL   Science 308 (5725), 1149-1154 (2005)
   PUBMED   15790807
REFERENCE   7  (bases 1 to 2664)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   8  (bases 1 to 2664)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (bases 1 to 2664)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   10 (bases 1 to 2664)
  AUTHORS   Kuge,O., Saito,K., Kojima,M., Akamatsu,Y. and Nishijima,M.
  TITLE     Post-translational processing of the phosphatidylserine
            decarboxylase gene product in Chinese hamster ovary cells
  JOURNAL   Biochem J 319 (Pt 1) (Pt 1), 33-38 (1996)
   PUBMED   8870646
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031255.1 and AL096768.7.
            
            On Jun 2, 2019 this sequence version replaced NM_001326419.1.
            
            Summary: The protein encoded by this gene catalyzes the conversion
            of phosphatidylserine to phosphatidylethanolamine in the inner
            mitochondrial membrane. The encoded protein is active in
            phospholipid metabolism and interorganelle trafficking of
            phosphatidylserine. [provided by RefSeq, May 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-72                AL031255.1         23242-23313         c
            73-152              AL031255.1         11797-11876         c
            153-328             AL031255.1         9199-9374           c
            329-582             AL096768.7         23432-23685         c
            583-748             AL096768.7         21353-21518         c
            749-985             AL096768.7         19318-19554         c
            986-1124            AL096768.7         19003-19141         c
            1125-1271           AL096768.7         18665-18811         c
            1272-1318           AL096768.7         18222-18268         c
            1319-2664           AL096768.7         16160-17505         c
FEATURES             Location/Qualifiers
     source          1..2664
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2664
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /note="phosphatidylserine decarboxylase"
                     /db_xref="GeneID:23761"
                     /db_xref="HGNC:HGNC:8999"
                     /db_xref="MIM:612770"
     exon            1..72
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            73..152
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            153..328
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            329..582
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     CDS             530..1543
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /EC_number="4.1.1.65"
                     /note="isoform f is encoded by transcript variant 11;
                     phosphatidylserine decarboxylase proenzyme, mitochondrial"
                     /codon_start=1
                     /product="phosphatidylserine decarboxylase proenzyme,
                     mitochondrial isoform f"
                     /protein_id="NP_001313348.1"
                     /db_xref="GeneID:23761"
                     /db_xref="HGNC:HGNC:8999"
                     /db_xref="MIM:612770"
                     /translation="MMCQSEARQGPELRAAKWLHFPQLALRRRLGQLSCMSRPALKLR
                     SWPLTVLYYLLPFGALRPLSRVGWRPVSRVALYKSVPTRLLSRAWGRLNQVELPHWLR
                     RPVYSLYIWTFGVNMKEAAVEDLHHYRNLSEFFRRKLKPQARPVCGLHSVISPSDGRI
                     LNFGQVKNCEVEQVKGVTYSLESFLGPRMCTEDLPFPPAASCDSFKNQLVTREGNELY
                     HCVIYLAPGDYHCFHSPTDWTVSHRRHFPAVGATNVGSIRIYFDRDLHTNSPRHSKGS
                     YNDFSFVTHTNREGVPMRKGEHLGEFNLGSTIVLIFEAPKDFNFQLKTGQKIRFGEAL
                     GSL"
     exon            583..748
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            749..985
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1124
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1271
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1318
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..2664
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2642..2647
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /note="hexamer: AATAAA"
     polyA_site      2664
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /note="major polyA site"
ORIGIN      
        1 agacaagatg gcgacgtccg tggggcaccg atgtctggga ttactgcacg gggtcgcgcc
       61 gtggcggagc agcctccatc cctgtgagat cactgccctg agccaatccc tacagccctt
      121 acggaagctg ccttttagag cctttcgcac agatgccaga aaaatccaca ctgcccctgc
      181 ccgaaccatg ttcctgctgc gtcccctgcc cattctgttg gtgacaggcg gcgggtatgc
      241 agggtaccgg cagtatgaga agtacaggga gcgagagctg gagaagctgg gattggagat
      301 tccacccaaa cttgctggtc actgggagcc ctgaccctct attctgcacc ctgtgagcca
      361 ccgagactga accaaaccca ggaagcggcg ccaccaacca gcctcgcaga ggcagaggcc
      421 ctggagcagt gacagcacag gagatctgct ggctcggggg aaggggagga aagaggaaaa
      481 caaagggagt gatcgagtga gcctcgcccc gccctccctg cgccggccca tgatgtgtca
      541 gtcagaggcg cggcaaggac cagagctccg cgcggcgaaa tggttgcact tcccccagct
      601 ggccctgagg cggaggctgg ggcagctgag ctgcatgtcc agacccgctc tgaaactgcg
      661 ctcctggccc ttgaccgtcc tctactacct cctgcccttc ggcgccctca gaccgctcag
      721 ccgggtggga tggaggcccg taagcagggt ggctttgtac aagtcagtgc caacgcgctt
      781 gctgtcacgg gcctggggtc gcctcaatca ggtggagctg ccacactggc tgcgcaggcc
      841 cgtctacagc ctgtacatct ggacgtttgg ggtgaacatg aaagaggccg ctgtggagga
      901 cctgcatcac taccgcaacc tcagcgagtt cttccggcgc aagctgaagc cgcaggcccg
      961 gcctgtctgt ggcctgcaca gcgtgattag cccatcggat ggaaggatcc tcaactttgg
     1021 gcaggtgaag aactgtgagg tggagcaggt aaagggggtc acctactccc tggagtcgtt
     1081 cctgggcccg cgtatgtgca cagaggacct gcccttccca ccagccgcgt cgtgtgactc
     1141 cttcaagaac cagctggtca cccgggaagg gaatgagctc tatcactgtg tcatctacct
     1201 ggcccctggg gactaccact gcttccactc ccccaccgac tggactgtgt cccaccggcg
     1261 ccacttccca gctgtggggg ccaccaacgt gggctccatt cgcatctact ttgaccggga
     1321 cctgcacaca aacagcccaa ggcacagcaa gggctcctac aatgacttca gcttcgtgac
     1381 gcacaccaat agagagggcg tccccatgcg taagggcgag cacctgggcg agttcaacct
     1441 gggctccacc atcgtgctca tcttcgaggc ccccaaggac ttcaatttcc agctgaaaac
     1501 aggacagaaa atccgctttg gggaagccct gggctcgctc tagagtctct ttcctgatta
     1561 tggctgctaa gggatctttt ccaaacagag tgagggtctt ttcaagaggg aggcccatga
     1621 ggccatccag gtaagggcct gcctcagcgt ggttgggagt ctgaccaggt aggacttgaa
     1681 tgattcggct accacctgtt ccagaggtgc agacaagagg tggcgagagc ccccatcatg
     1741 cccctcaacc tatcccgttc cttctgccta caaataaaaa gtgcaggctg gaatgatctc
     1801 agtcacattt ggatcttttt aaacactgta tagacggaag agcctgcatt cctgaccgaa
     1861 ccttcagttg gtctcggttg tcgttttttc ttgctgctcc tccccccatc acctgagctg
     1921 ttttctgttg gccccttttg ttttttggcc ttaacgctcc tgctgcacag ggtgaggtgc
     1981 ctccttggca cagactgtgg atgcctctcc cccagcagag ccacacagcc ttcgtgacaa
     2041 ctgctttccg ttcccacatt cacctcatcc tgctctttag aaaaagcagt ctttgtgctt
     2101 gtggctgaac gcatcaccct ggactctgct agtgtcttct gaggacactg atgacactga
     2161 ttaatgatac agacctttgc aggacctgat gagtgaccct tctggagctg gccaggtcct
     2221 ctgcagcagg caagaccaat caatcactga acctgcctca tggcaccaga gtgaacaggg
     2281 caggcaggta gtaggcccag ctggggaaat gggagagttc ctgtccccct ccacatatcc
     2341 ctacatgaaa tatgggaaag ttgctgctat tgattcaggg tctgtcttgg aggcagagga
     2401 cccttggtgg atagttggtc agtgcctgga aaacctgtcc cagtttatca ggaacgcagg
     2461 cctggggagc ccccagtggc ggggacaggg ccagatttca tgttgaccct ggggatgctg
     2521 tgaatttctc ctgcaggaga gacatcattg aattttttca actgtatcag tagcacagta
     2581 tttttgtatg aaaagtggga gacttctgaa cagtaattca tttaattgca aagcattttg
     2641 aaataaaaaa aatcaaactt aaaa
//
