LOCUS       NM_001326415            2698 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens phosphatidylserine decarboxylase (PISD), transcript
            variant 7, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001326415
VERSION     NM_001326415.2
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 2698)
  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 2698)
  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 2698)
  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 2698)
  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 2698)
  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 2698)
  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 2698)
  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 2698)
  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 2698)
  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 2698)
  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_001326415.1.
            
            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].
            
            Transcript Variant: This variant (7), as well as variants 5, 6, 8,
            and 9, encodes isoform d.
            
            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##
            Transcript exon combination :: SRR14038192.110304.1,
                                           SRR1660803.122807.1 [ECO:0000332]
            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
            73-248              AL031255.1         9199-9374           c
            249-502             AL096768.7         23432-23685         c
            503-668             AL096768.7         21353-21518         c
            669-905             AL096768.7         19318-19554         c
            906-1044            AL096768.7         19003-19141         c
            1045-1191           AL096768.7         18665-18811         c
            1192-1352           AL096768.7         18222-18382         c
            1353-2698           AL096768.7         16160-17505         c
FEATURES             Location/Qualifiers
     source          1..2698
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2698
                     /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..248
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            249..502
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     CDS             450..1577
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /EC_number="4.1.1.65"
                     /note="isoform d is encoded by transcript variant 7;
                     phosphatidylserine decarboxylase proenzyme, mitochondrial"
                     /codon_start=1
                     /product="phosphatidylserine decarboxylase proenzyme,
                     mitochondrial isoform d"
                     /protein_id="NP_001313344.1"
                     /db_xref="CCDS:CCDS13899.1"
                     /db_xref="GeneID:23761"
                     /db_xref="HGNC:HGNC:8999"
                     /db_xref="MIM:612770"
                     /translation="MMCQSEARQGPELRAAKWLHFPQLALRRRLGQLSCMSRPALKLR
                     SWPLTVLYYLLPFGALRPLSRVGWRPVSRVALYKSVPTRLLSRAWGRLNQVELPHWLR
                     RPVYSLYIWTFGVNMKEAAVEDLHHYRNLSEFFRRKLKPQARPVCGLHSVISPSDGRI
                     LNFGQVKNCEVEQVKGVTYSLESFLGPRMCTEDLPFPPAASCDSFKNQLVTREGNELY
                     HCVIYLAPGDYHCFHSPTDWTVSHRRHFPGSLMSVNPGMARWIKELFCHNERVVLTGD
                     WKHGFFSLTAVGATNVGSIRIYFDRDLHTNSPRHSKGSYNDFSFVTHTNREGVPMRKG
                     EHLGEFNLGSTIVLIFEAPKDFNFQLKTGQKIRFGEALGSL"
     exon            503..668
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            669..905
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1044
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1191
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1352
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..2698
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2676..2681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /note="hexamer: AATAAA"
     polyA_site      2698
                     /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 agatgccaga aaaatccaca ctgcccctgc ccgaaccatg ttcctgctgc
      121 gtcccctgcc cattctgttg gtgacaggcg gcgggtatgc agggtaccgg cagtatgaga
      181 agtacaggga gcgagagctg gagaagctgg gattggagat tccacccaaa cttgctggtc
      241 actgggagcc ctgaccctct attctgcacc ctgtgagcca ccgagactga accaaaccca
      301 ggaagcggcg ccaccaacca gcctcgcaga ggcagaggcc ctggagcagt gacagcacag
      361 gagatctgct ggctcggggg aaggggagga aagaggaaaa caaagggagt gatcgagtga
      421 gcctcgcccc gccctccctg cgccggccca tgatgtgtca gtcagaggcg cggcaaggac
      481 cagagctccg cgcggcgaaa tggttgcact tcccccagct ggccctgagg cggaggctgg
      541 ggcagctgag ctgcatgtcc agacccgctc tgaaactgcg ctcctggccc ttgaccgtcc
      601 tctactacct cctgcccttc ggcgccctca gaccgctcag ccgggtggga tggaggcccg
      661 taagcagggt ggctttgtac aagtcagtgc caacgcgctt gctgtcacgg gcctggggtc
      721 gcctcaatca ggtggagctg ccacactggc tgcgcaggcc cgtctacagc ctgtacatct
      781 ggacgtttgg ggtgaacatg aaagaggccg ctgtggagga cctgcatcac taccgcaacc
      841 tcagcgagtt cttccggcgc aagctgaagc cgcaggcccg gcctgtctgt ggcctgcaca
      901 gcgtgattag cccatcggat ggaaggatcc tcaactttgg gcaggtgaag aactgtgagg
      961 tggagcaggt aaagggggtc acctactccc tggagtcgtt cctgggcccg cgtatgtgca
     1021 cagaggacct gcccttccca ccagccgcgt cgtgtgactc cttcaagaac cagctggtca
     1081 cccgggaagg gaatgagctc tatcactgtg tcatctacct ggcccctggg gactaccact
     1141 gcttccactc ccccaccgac tggactgtgt cccaccggcg ccacttccca ggctccctga
     1201 tgtcagtgaa ccctggcatg gctcgctgga tcaaagagct cttctgccat aacgagcggg
     1261 tggtcctgac gggggactgg aaacatggct tcttctcact gacagctgtg ggggccacca
     1321 acgtgggctc cattcgcatc tactttgacc gggacctgca cacaaacagc ccaaggcaca
     1381 gcaagggctc ctacaatgac ttcagcttcg tgacgcacac caatagagag ggcgtcccca
     1441 tgcgtaaggg cgagcacctg ggcgagttca acctgggctc caccatcgtg ctcatcttcg
     1501 aggcccccaa ggacttcaat ttccagctga aaacaggaca gaaaatccgc tttggggaag
     1561 ccctgggctc gctctagagt ctctttcctg attatggctg ctaagggatc ttttccaaac
     1621 agagtgaggg tcttttcaag agggaggccc atgaggccat ccaggtaagg gcctgcctca
     1681 gcgtggttgg gagtctgacc aggtaggact tgaatgattc ggctaccacc tgttccagag
     1741 gtgcagacaa gaggtggcga gagcccccat catgcccctc aacctatccc gttccttctg
     1801 cctacaaata aaaagtgcag gctggaatga tctcagtcac atttggatct ttttaaacac
     1861 tgtatagacg gaagagcctg cattcctgac cgaaccttca gttggtctcg gttgtcgttt
     1921 tttcttgctg ctcctccccc catcacctga gctgttttct gttggcccct tttgtttttt
     1981 ggccttaacg ctcctgctgc acagggtgag gtgcctcctt ggcacagact gtggatgcct
     2041 ctcccccagc agagccacac agccttcgtg acaactgctt tccgttccca cattcacctc
     2101 atcctgctct ttagaaaaag cagtctttgt gcttgtggct gaacgcatca ccctggactc
     2161 tgctagtgtc ttctgaggac actgatgaca ctgattaatg atacagacct ttgcaggacc
     2221 tgatgagtga cccttctgga gctggccagg tcctctgcag caggcaagac caatcaatca
     2281 ctgaacctgc ctcatggcac cagagtgaac agggcaggca ggtagtaggc ccagctgggg
     2341 aaatgggaga gttcctgtcc ccctccacat atccctacat gaaatatggg aaagttgctg
     2401 ctattgattc agggtctgtc ttggaggcag aggacccttg gtggatagtt ggtcagtgcc
     2461 tggaaaacct gtcccagttt atcaggaacg caggcctggg gagcccccag tggcggggac
     2521 agggccagat ttcatgttga ccctggggat gctgtgaatt tctcctgcag gagagacatc
     2581 attgaatttt ttcaactgta tcagtagcac agtatttttg tatgaaaagt gggagacttc
     2641 tgaacagtaa ttcatttaat tgcaaagcat tttgaaataa aaaaaatcaa acttaaaa
//
