LOCUS       NM_001326411            2358 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens phosphatidylserine decarboxylase (PISD), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001326411
VERSION     NM_001326411.2
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 2358)
  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 2358)
  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 2358)
  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 2358)
  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 2358)
  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 2358)
  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 2358)
  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 2358)
  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 2358)
  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 2358)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 24, 2021 this sequence version replaced NM_001326411.1.
            
            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].
            
            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 :: SRR5189652.248457.1,
                                           SRR18074969.238716.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000439502.7/ ENSP00000391739.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-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
            329-565             AL096768.7         19318-19554         c
            566-704             AL096768.7         19003-19141         c
            705-851             AL096768.7         18665-18811         c
            852-1012            AL096768.7         18222-18382         c
            1013-2358           AL096768.7         16160-17505         c
FEATURES             Location/Qualifiers
     source          1..2358
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2358
                     /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"
     CDS             8..1237
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /EC_number="4.1.1.65"
                     /note="isoform a is encoded by transcript variant 1;
                     phosphatidylserine decarboxylase proenzyme, mitochondrial"
                     /codon_start=1
                     /product="phosphatidylserine decarboxylase proenzyme,
                     mitochondrial isoform a"
                     /protein_id="NP_001313340.1"
                     /db_xref="CCDS:CCDS87016.1"
                     /db_xref="GeneID:23761"
                     /db_xref="HGNC:HGNC:8999"
                     /db_xref="MIM:612770"
                     /translation="MATSVGHRCLGLLHGVAPWRSSLHPCEITALSQSLQPLRKLPFR
                     AFRTDARKIHTAPARTMFLLRPLPILLVTGGGYAGYRQYEKYRERELEKLGLEIPPKL
                     AGHWEVALYKSVPTRLLSRAWGRLNQVELPHWLRRPVYSLYIWTFGVNMKEAAVEDLH
                     HYRNLSEFFRRKLKPQARPVCGLHSVISPSDGRILNFGQVKNCEVEQVKGVTYSLESF
                     LGPRMCTEDLPFPPAASCDSFKNQLVTREGNELYHCVIYLAPGDYHCFHSPTDWTVSH
                     RRHFPGSLMSVNPGMARWIKELFCHNERVVLTGDWKHGFFSLTAVGATNVGSIRIYFD
                     RDLHTNSPRHSKGSYNDFSFVTHTNREGVPMRKGEHLGEFNLGSTIVLIFEAPKDFNF
                     QLKTGQKIRFGEALGSL"
     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..565
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            566..704
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            705..851
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            852..1012
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..2358
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2336..2341
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PISD"
                     /gene_synonym="DJ858B16; dJ858B16.2; LIBF; PSD; PSDC;
                     PSSC"
                     /note="hexamer: AATAAA"
     polyA_site      2358
                     /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 actgggaggt ggctttgtac aagtcagtgc caacgcgctt
      361 gctgtcacgg gcctggggtc gcctcaatca ggtggagctg ccacactggc tgcgcaggcc
      421 cgtctacagc ctgtacatct ggacgtttgg ggtgaacatg aaagaggccg ctgtggagga
      481 cctgcatcac taccgcaacc tcagcgagtt cttccggcgc aagctgaagc cgcaggcccg
      541 gcctgtctgt ggcctgcaca gcgtgattag cccatcggat ggaaggatcc tcaactttgg
      601 gcaggtgaag aactgtgagg tggagcaggt aaagggggtc acctactccc tggagtcgtt
      661 cctgggcccg cgtatgtgca cagaggacct gcccttccca ccagccgcgt cgtgtgactc
      721 cttcaagaac cagctggtca cccgggaagg gaatgagctc tatcactgtg tcatctacct
      781 ggcccctggg gactaccact gcttccactc ccccaccgac tggactgtgt cccaccggcg
      841 ccacttccca ggctccctga tgtcagtgaa ccctggcatg gctcgctgga tcaaagagct
      901 cttctgccat aacgagcggg tggtcctgac gggggactgg aaacatggct tcttctcact
      961 gacagctgtg ggggccacca acgtgggctc cattcgcatc tactttgacc gggacctgca
     1021 cacaaacagc ccaaggcaca gcaagggctc ctacaatgac ttcagcttcg tgacgcacac
     1081 caatagagag ggcgtcccca tgcgtaaggg cgagcacctg ggcgagttca acctgggctc
     1141 caccatcgtg ctcatcttcg aggcccccaa ggacttcaat ttccagctga aaacaggaca
     1201 gaaaatccgc tttggggaag ccctgggctc gctctagagt ctctttcctg attatggctg
     1261 ctaagggatc ttttccaaac agagtgaggg tcttttcaag agggaggccc atgaggccat
     1321 ccaggtaagg gcctgcctca gcgtggttgg gagtctgacc aggtaggact tgaatgattc
     1381 ggctaccacc tgttccagag gtgcagacaa gaggtggcga gagcccccat catgcccctc
     1441 aacctatccc gttccttctg cctacaaata aaaagtgcag gctggaatga tctcagtcac
     1501 atttggatct ttttaaacac tgtatagacg gaagagcctg cattcctgac cgaaccttca
     1561 gttggtctcg gttgtcgttt tttcttgctg ctcctccccc catcacctga gctgttttct
     1621 gttggcccct tttgtttttt ggccttaacg ctcctgctgc acagggtgag gtgcctcctt
     1681 ggcacagact gtggatgcct ctcccccagc agagccacac agccttcgtg acaactgctt
     1741 tccgttccca cattcacctc atcctgctct ttagaaaaag cagtctttgt gcttgtggct
     1801 gaacgcatca ccctggactc tgctagtgtc ttctgaggac actgatgaca ctgattaatg
     1861 atacagacct ttgcaggacc tgatgagtga cccttctgga gctggccagg tcctctgcag
     1921 caggcaagac caatcaatca ctgaacctgc ctcatggcac cagagtgaac agggcaggca
     1981 ggtagtaggc ccagctgggg aaatgggaga gttcctgtcc ccctccacat atccctacat
     2041 gaaatatggg aaagttgctg ctattgattc agggtctgtc ttggaggcag aggacccttg
     2101 gtggatagtt ggtcagtgcc tggaaaacct gtcccagttt atcaggaacg caggcctggg
     2161 gagcccccag tggcggggac agggccagat ttcatgttga ccctggggat gctgtgaatt
     2221 tctcctgcag gagagacatc attgaatttt ttcaactgta tcagtagcac agtatttttg
     2281 tatgaaaagt gggagacttc tgaacagtaa ttcatttaat tgcaaagcat tttgaaataa
     2341 aaaaaatcaa acttaaaa
//
