LOCUS       NM_030783               2458 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens phosphatidylserine synthase 2 (PTDSS2), transcript
            variant 2, mRNA.
ACCESSION   NM_030783
VERSION     NM_030783.3
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 2458)
  AUTHORS   Sharma,N.K., Langberg,K.A., Mondal,A.K. and Das,S.K.
  TITLE     Phospholipid biosynthesis genes and susceptibility to obesity:
            analysis of expression and polymorphisms
  JOURNAL   PLoS One 8 (5), e65303 (2013)
   PUBMED   23724137
  REMARK    Erratum:[PLoS One. 2013;8(12).
            doi:10.1371/annotation/7b3edc45-39c7-416b-a7dc-124f4846303d]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2458)
  AUTHORS   Kimura,A.K. and Kim,H.Y.
  TITLE     Phosphatidylserine synthase 2: high efficiency for synthesizing
            phosphatidylserine containing docosahexaenoic acid
  JOURNAL   J Lipid Res 54 (1), 214-222 (2013)
   PUBMED   23071296
REFERENCE   3  (bases 1 to 2458)
  AUTHORS   Tomohiro,S., Kawaguti,A., Kawabe,Y., Kitada,S. and Kuge,O.
  TITLE     Purification and characterization of human phosphatidylserine
            synthases 1 and 2
  JOURNAL   Biochem J 418 (2), 421-429 (2009)
   PUBMED   19014349
  REMARK    GeneRIF: Purification and characterization of human
            phosphatidylserine synthases 1 and 2.
REFERENCE   4  (bases 1 to 2458)
  AUTHORS   Grandmaison,P.A., Nanowski,T.S. and Vance,J.E.
  TITLE     Externalization of phosphatidylserine during apoptosis does not
            specifically require either isoform of phosphatidylserine synthase
  JOURNAL   Biochim Biophys Acta 1636 (1), 1-11 (2004)
   PUBMED   14984733
REFERENCE   5  (bases 1 to 2458)
  AUTHORS   Sturbois-Balcerzak,B., Stone,S.J., Sreenivas,A. and Vance,J.E.
  TITLE     Structure and expression of the murine phosphatidylserine
            synthase-1 gene
  JOURNAL   J Biol Chem 276 (11), 8205-8212 (2001)
   PUBMED   11084049
REFERENCE   6  (bases 1 to 2458)
  AUTHORS   Stone,S.J. and Vance,J.E.
  TITLE     Phosphatidylserine synthase-1 and -2 are localized to
            mitochondria-associated membranes
  JOURNAL   J Biol Chem 275 (44), 34534-34540 (2000)
   PUBMED   10938271
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC138230.5, BC001210.1 and
            BQ575571.1.
            
            On Nov 23, 2018 this sequence version replaced NM_030783.2.
            
            Summary: The protein encoded by this gene catalyzes the conversion
            of phosphatidylethanolamine to phosphatidylserine, a structural
            membrane phospholipid that functions in cell signaling, blood
            coagulation, and apoptosis. The encoded enzyme also has a high
            affinity for docosahexaenoic acid (DHA) and can use it to make
            DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction compared to variant 1. The resulting isoform (2)
            has the same N- and C-termini but is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL834357.1, BC001210.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308020.6/ ENSP00000308258.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC138230.5         167080-167080
            2-2446              BC001210.1         1-2445
            2447-2458           BQ575571.1         20-31               c
FEATURES             Location/Qualifiers
     source          1..2458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2458
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /note="phosphatidylserine synthase 2"
                     /db_xref="GeneID:81490"
                     /db_xref="HGNC:HGNC:15463"
                     /db_xref="MIM:612793"
     exon            1..359
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..1641
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /EC_number="2.7.8.29"
                     /note="isoform 2 is encoded by transcript variant 2;
                     PSS-2; ptdSer synthase 2; serine-exchange enzyme II"
                     /codon_start=1
                     /product="phosphatidylserine synthase 2 isoform 2"
                     /protein_id="NP_110410.1"
                     /db_xref="CCDS:CCDS7696.1"
                     /db_xref="GeneID:81490"
                     /db_xref="HGNC:HGNC:15463"
                     /db_xref="MIM:612793"
                     /translation="MRRGERRDAGGPRPESPVPAGRASLEEPPDGPSAGQATGPGEGR
                     RSTESEVYDDGTNTFFWRAHTLTVLFILTCTLGYVTLLEETPQDTAYNTKRGIVASIL
                     VFLCFGVTQAKDGPFSRPHPAYWRFWLCVSVVYELFLIFILFQTVQDGRQFLKYVDPK
                     LGVPLPERDYGGNCLIYDPDNETDPFHNIWDKLDGFVPAHFLGWYLKTLMIRDWWMCM
                     IISVMFEFLEYSLEHQLPNFSECWWDHWIMDVLVCNGLGIYCGMKTLEWLSLKTYKWQ
                     GLWNIPTYKGKMKRIAFQFTPYSWVRFEWKPASSLRRWLAVCGIILVFLLAELNTFYL
                     KFVLWMPPEHYLVLLRLVFFVNVGGVAMREIYDFMDDPKPHKKLGPQAWLVAAITATE
                     LLIVVKYDPHTLTLSLPFYISQCWTLGSVLALTWTVWRFFLRDITLRYKETRWQKWQN
                     KDDQGSTVGNGDQHPLGLDEDLLGPGVAEGEGAPTPN"
     exon            360..461
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            462..544
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            545..612
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            613..747
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            748..798
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            799..912
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            913..1031
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1146
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1292
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..1478
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..2458
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2415..2420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /note="hexamer: AATAAA"
     polyA_site      2458
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /note="major polyA site"
ORIGIN      
        1 acaatgcacc gcacaccctt tactggccgg ccccgcgctg ctctcctaag accccgcggg
       61 ccagcgccgc gaccccttcc cagcgctcct cgcgctgtgt gcggcgcgtc ctctcgccgg
      121 tgacccggtg tgcgtggggt cgaggcgccg ggcggagtgg ctccgggccg aaacgccatg
      181 cggaggggcg agcgcaggga cgccggaggt ccgcggcccg agtccccggt gcccgcgggc
      241 agggcctcgc tggaggagcc gcctgacggg ccgtctgccg gccaagccac cgggccgggc
      301 gagggccgcc gcagcaccga gtccgaggtc tacgacgacg gcaccaacac cttcttctgg
      361 cgagcccaca ccttaaccgt gctcttcatc ctcacctgta cgcttggcta tgtgacgctg
      421 ctggaggaaa cacctcagga cacggcctac aacaccaaga gaggtattgt ggccagtatt
      481 ttggttttct tatgttttgg agtcacacaa gctaaagacg ggccattttc cagacctcat
      541 ccagcttact ggaggttttg gctctgcgtg agtgtggtct acgagctgtt tctcatcttt
      601 atactcttcc agactgtcca ggacggccgg cagtttctaa agtatgttga ccccaagctg
      661 ggagtcccac tgccagagag agactacggg ggaaactgcc tcatctacga cccagacaat
      721 gagactgacc cctttcacaa catctgggac aagttggatg gctttgttcc cgcgcacttt
      781 cttggctggt acctgaagac cctgatgatc cgagactggt ggatgtgcat gatcatcagc
      841 gtgatgttcg agttcctgga gtacagcctg gagcaccagc tgcccaactt cagcgagtgc
      901 tggtgggatc actggatcat ggacgtgctc gtctgcaacg ggctgggcat ctactgcggc
      961 atgaagaccc ttgagtggct gtccctgaag acgtacaagt ggcagggcct ctggaacatt
     1021 ccgacctaca agggcaagat gaagaggatc gccttccagt tcacgccgta cagctgggtt
     1081 cgcttcgagt ggaagccggc ctccagcctg cgtcgctggc tggccgtgtg cggcatcatc
     1141 ctggtgttcc tgttggcaga actgaacacg ttctacctga agtttgtgct gtggatgccc
     1201 ccggagcact acctggtcct cctgcggctc gtcttcttcg tgaacgtggg tggcgtggcc
     1261 atgcgtgaga tctacgactt catggatgac ccgaagcccc acaagaagct gggcccgcag
     1321 gcctggctgg tggcggccat cacggccacg gagctgctca tcgtggtgaa gtacgacccc
     1381 cacacgctca ccctgtccct gcccttctac atctcccagt gctggaccct cggctccgtc
     1441 ctggcgctca cctggaccgt ctggcgcttc ttcctgcggg acatcacatt gaggtacaag
     1501 gagacccggt ggcagaagtg gcagaacaag gatgaccagg gcagcaccgt cggcaacggg
     1561 gaccagcacc cactggggct ggacgaagac ctgctggggc ctggggtggc cgagggcgag
     1621 ggagcaccaa ctccaaactg acctgggccg tggctgcctc gtgagcctcc cagagcccag
     1681 gcctccgtgg cctcctcctg tgtgagtccc accaggagcc acgtgcccgg ccttgccctc
     1741 aaggtttttt gcttttctcc tgtgcacctg gcgaggctga aggcgagggg tggaggaggc
     1801 cccagcacag cctcatctcc atgtgtacac gtgtgtacgt gtgtatgcgt gtgtgtacgc
     1861 gtgtgtacgc gcgtgtgtac acatgcgtgg ccgcctgtgg tgtgcacgtg tgctctgggc
     1921 tccgaggctt ctccagagct gggagctggc tggcgtggca agggcatgct ctggggcagt
     1981 gtgtccctca ggaaccaggg tcctccctcc cctttctgcc tggtcagccc cgtggcctct
     2041 ggcccaccaa gctccctgtc acccagccat ggtgtggtcc aggcagggac atctcggtac
     2101 cctttctgca ctccgtgggc cctgggtgcg ctgaggcctg gaggcgtcta cactggctcc
     2161 acatccactt cccccgcagc tcgtgtgggc gctcgtccac aaacactccg tggctgagag
     2221 gcagcggatc caggcagcga tgctgagcca cctcctccga gccttccttt cacacagacc
     2281 accccggagg acacgtggat gatggggtca gagatcactg agctgcccct caagggggcc
     2341 tggaacccgg gtgctggggt catgctgcct ccgtggctcc aaggtgaggg tcatcttcac
     2401 gagcaaagag aaccaataaa gtgacaacga acgtctgagg cttccagccc tcccccca
//
