LOCUS       NM_014754               4990 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript
            variant 1, mRNA.
ACCESSION   NM_014754
VERSION     NM_014754.3
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 4990)
  AUTHORS   Sugahara,S., Ishino,Y., Sawada,K., Iwata,T., Shimanaka,Y., Aoki,J.,
            Arai,H. and Kono,N.
  TITLE     Disease-related PSS1 mutant impedes the formation and function of
            osteoclasts
  JOURNAL   J Lipid Res 64 (11), 100443 (2023)
   PUBMED   37714410
  REMARK    GeneRIF: Disease-related PSS1 mutant impedes the formation and
            function of osteoclasts.
REFERENCE   2  (bases 1 to 4990)
  AUTHORS   Miyata,N. and Kuge,O.
  TITLE     Topology of phosphatidylserine synthase 1 in the endoplasmic
            reticulum membrane
  JOURNAL   Protein Sci 30 (11), 2346-2353 (2021)
   PUBMED   34516042
  REMARK    GeneRIF: Topology of phosphatidylserine synthase 1 in the
            endoplasmic reticulum membrane.
REFERENCE   3  (bases 1 to 4990)
  AUTHORS   Seda,M., Peskett,E., Demetriou,C., Bryant,D., Moore,G.E.,
            Stanier,P. and Jenkins,D.
  TITLE     Analysis of transgenic zebrafish expressing the Lenz-Majewski
            syndrome gene PTDSS1 in skeletal cell lineages
  JOURNAL   F1000Res 8, 273 (2019)
   PUBMED   31231513
  REMARK    GeneRIF: used transpose-mediated transgenesis to attempt to stably
            express wild-type and mutant forms of human PTDSS1 ubiquitously or
            specifically in chondrocytes, osteoblasts or osteoclasts in
            zebrafish
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4990)
  AUTHORS   Piard,J., Lespinasse,J., Vlckova,M., Mensah,M.A., Iurian,S.,
            Simandlova,M., Malikova,M., Bartsch,O., Rossi,M., Lenoir,M.,
            Nugues,F., Mundlos,S., Kornak,U., Stanier,P., Sousa,S.B. and Van
            Maldergem,L.
  TITLE     Cutis laxa and excessive bone growth due to de novo mutations in
            PTDSS1
  JOURNAL   Am J Med Genet A 176 (3), 668-675 (2018)
   PUBMED   29341480
  REMARK    GeneRIF: we report here three patients with LMS and heterozygous
            mutations in PTDSS1. We describe an adult phenotype and two novel
            PTDSS1 mutations. We suggest that LMS should be considered in the
            differential diagnosis of a newborn with CL.
            Review article
REFERENCE   5  (bases 1 to 4990)
  AUTHORS   Sohn,M., Ivanova,P., Brown,H.A., Toth,D.J., Varnai,P., Kim,Y.J. and
            Balla,T.
  TITLE     Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol
            4-phosphate metabolism at ER-PM and ER-Golgi junctions
  JOURNAL   Proc Natl Acad Sci U S A 113 (16), 4314-4319 (2016)
   PUBMED   27044099
  REMARK    GeneRIF: PSS1 mutations not only affect cellular PS levels and
            distribution but also lead to a more complex imbalance in lipid
            homeostasis by disturbing PI4P metabolism.
REFERENCE   6  (bases 1 to 4990)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 4990)
  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   8  (bases 1 to 4990)
  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   9  (bases 1 to 4990)
  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
REFERENCE   10 (bases 1 to 4990)
  AUTHORS   Kuge,O., Nishijima,M. and Akamatsu,Y.
  TITLE     A Chinese hamster cDNA encoding a protein essential for
            phosphatidylserine synthase I activity
  JOURNAL   J Biol Chem 266 (35), 24184-24189 (1991)
   PUBMED   1748687
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY087183.1, BC004192.2,
            BM459031.1 and AP003465.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014754.2.
            
            Summary: The protein encoded by this gene catalyzes the formation
            of phosphatidylserine from either phosphatidylcholine or
            phosphatidylethanolamine. Phosphatidylserine localizes to the
            mitochondria-associated membrane of the endoplasmic reticulum,
            where it serves a structural role as well as a signaling role.
            Defects in this gene are a cause of Lenz-Majewski hyperostotic
            dwarfism. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1803616.18983.1,
                                           SRR1803612.243335.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000517309.6/ ENSP00000430548.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                HY087183.1         17-50
            35-2542             BC004192.2         1-2508
            2543-2547           BM459031.1         474-478
            2548-4990           AP003465.2         219798-222240
FEATURES             Location/Qualifiers
     source          1..4990
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..4990
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /note="phosphatidylserine synthase 1"
                     /db_xref="GeneID:9791"
                     /db_xref="HGNC:HGNC:9587"
                     /db_xref="MIM:612792"
     exon            1..318
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     CDS             140..1561
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /EC_number="2.7.8.29"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PSS-1; ptdSer synthase 1; serine-exchange enzyme I"
                     /codon_start=1
                     /product="phosphatidylserine synthase 1 isoform 1"
                     /protein_id="NP_055569.1"
                     /db_xref="CCDS:CCDS6271.1"
                     /db_xref="GeneID:9791"
                     /db_xref="HGNC:HGNC:9587"
                     /db_xref="MIM:612792"
                     /translation="MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTIT
                     LLSFTIVSLMYFAFTRDDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWR
                     MVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWER
                     IISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQV
                     ILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVR
                     WFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPT
                     VRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVA
                     FTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNN
                     ESHSSRRRNRHSKSKVTNGVGKK"
     exon            319..410
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            411..455
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            456..580
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            581..739
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            740..891
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1033
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1146
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1212
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1312
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1381
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..1451
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..4990
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2516..2521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /note="hexamer: AATAAA"
     polyA_site      2542
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /note="major polyA site"
     polyA_site      2562
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
     regulatory      3297..3302
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /note="hexamer: AATAAA"
     polyA_site      3316
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
     regulatory      3814..3819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /note="hexamer: AATAAA"
     polyA_site      3841
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
ORIGIN      
        1 ccctctgctc ccagcctttg ctgggcgcca gacccggctt tgccgtccgg ctattagcct
       61 actgtggcta gtcacccccg gggtcccggc cttctcgggc tggggccgcc gccaccgcgg
      121 caggacgggg aggcgggcca tggcgtcctg cgtggggagc cggaccctaa gcaaggatga
      181 tgtgaactac aaaatgcatt tccggatgat caacgagcag caagtggagg acatcaccat
      241 tgacttcttc taccggccgc ataccatcac cctgctcagc ttcaccatcg tcagcctcat
      301 gtacttcgcc tttaccaggg atgactctgt tccagaagac aacatctgga gaggcatcct
      361 ctctgttatt ttcttctttc ttatcatcag tgtgttagct ttccccaatg gtccgttcac
      421 tcgacctcat ccagccttat ggcgaatggt ttttggactc agtgtgctct acttcctgtt
      481 cctggtattc ctactcttcc tgaatttcga gcaggttaaa tctctaatgt attggctaga
      541 tccaaatctt cgatacgcca caagggaagc agatgtcatg gagtatgctg tgaactgcca
      601 tgtgatcacc tgggagagga ttatcagcca ctttgatatt tttgcatttg gacatttctg
      661 gggctgggcc atgaaggcct tgctgatccg tagttacggt ctctgctgga caatcagtat
      721 tacctgggag ctgactgagc tcttcttcat gcatctcctc cccaattttg ccgagtgctg
      781 gtgggatcaa gtcattctgg acatcctgtt gtgcaatggc ggtggcattt ggctgggcat
      841 ggtcgtttgc cggtttttag agatgaggac ttaccactgg gcaagcttca aggacattca
      901 taccaccacc gggaagatca agagagctgt tctgcagttc actcctgcta gctggaccta
      961 tgttcgatgg tttgacccca aatcttcttt tcagagagta gctggagtgt accttttcat
     1021 gatcatctgg cagctgactg agttgaatac cttcttcttg aagcatatct ttgtgttcca
     1081 agccagtcat ccattaagtt ggggtagaat tctctttatt ggtggcatca cagctcccac
     1141 agtgagacag tactacgctt acctcaccga cacacagtgc aagcgcgtag gaacacaatg
     1201 ctgggtgttt ggggtcattg gtttcctgga ggccattgtt tgcataaaat ttggacaaga
     1261 tctcttctct aagacccaaa tactctatgt tgtgctttgg cttctttgcg tggctttcac
     1321 cactttcctc tgtctgtacg gcatgatttg gtatgcagaa cactatggtc accgagaaaa
     1381 gacctactcg gagtgtgaag atggcaccta cagtccagag atctcctggc atcacaggaa
     1441 agggacaaaa ggttctgaag acagcccacc caagcatgca ggcaacaacg aaagccattc
     1501 ttccaggaga aggaatcggc attccaagtc aaaagtcacc aatggcgttg gaaagaaatg
     1561 aaaaaccctg gttaatcaaa gatgttccag agtgcctaga actgagaggg aaatggaact
     1621 catttggaac tccccgtgag gaggtcgagg cgcacagggc aagcaggaag aggcgagggc
     1681 acttgggggt cattatttga gatcgtaagt cttgtttccc acagacctgg ccgcgtcagg
     1741 cagatcatcg cctggggggc ctttgccaac gtggggtctc ttctaacttc agcacttgac
     1801 atgcggtcac cggtggcagc gcggtgtgtt gaagggaaac ggtagctatt cattcacagt
     1861 tgccaagagc agctccgcgc ctgctggatc gtggatgcag cgtaaacatc ttccttcaga
     1921 cgaggcatta accccatggt taatggactg gtcaccagtt tttattttat ttttatgaat
     1981 ctacctttcc attgattgat ttaagttcag gccacttttc tgtcttttat ttggttactg
     2041 ttgttatttg tttttaagtt aggatgcttt ttaacagcct ttagaagccg ctgctgaaat
     2101 tgatactggg ggaagggttc cccttccttc tagagcagaa aagggagaga ggtgttgtat
     2161 tcctgtttgg taacctcagt ctcctgtaag acctcctacc acatggcgag tatacaccaa
     2221 tcaggagagg gtagctgcct gcataggagc ctcgcttccg attattccct tcccaatatt
     2281 attcatccag acttagccac agtgcacaaa agcaaacctg ctagagaggc agtgaacacc
     2341 acagcttctc cccagctagg tgccttttac atcgggtttg ttctccttcc atggtgtgtt
     2401 gctgacattg tcactgagtc ccatgtgagg tgctggtgag tattaccttt catctgtgcc
     2461 atgctctaga accttgacct tgatagttca ccacctctga tggatccctg ttttaaataa
     2521 aaacgattca ctttaaagcc tatcaaaggt ctgtctgtaa aatgctcatt ttcttgcatc
     2581 ttactggtat cttctattga ttgtaagcag tctgtgtttt tcaagtgact ttaggataat
     2641 atatatgtgt tttacatagt gagaagaaaa aagaaaagat gtgtatttta aagggcttac
     2701 agacatatat gtcctacttc ttagactacc caagtgacca acaggaatga acaacatagt
     2761 cattgttttt tcctgtggta atggtttcca agttggactt ttttttcctc taacaagagg
     2821 ccagtaccca gttgattagc ttacagatat caactcactg aaagtaatct tttgttccct
     2881 catttcacac agcacaaagg ttcgttctga tgtttcttct tctttaagga aatctttagc
     2941 catagaagtg tcactttttt tttttctgca aaagaattcc aagatgaacg ggttgaatga
     3001 atcatgccag ccagggtcac atcctgtcct cagggggccc agtgctcaat agtagattct
     3061 gcgggagtgg agaagcgtca gtggcagctc cgctcacttg gtgagtgagg gatttggctg
     3121 tgatgagcct cagctccgag ctctcaaatg tcctccagcc agcatctgcc tgcttcccac
     3181 aaaaggatag aagagaggca aagtgcgtgt ttcataaaac ctgcctgcac ttttataacc
     3241 catcaaagag gccattttta aacacaggta caatttaaac atgatctttc tttgcaaata
     3301 aatatgtttt gtttcatcct gtgttctgct tttctaagca tgacatactt gtgcccattg
     3361 gagaagacac ctgtctcttc tttctcacac cggtggtgcc tcactgagtg tttccgggtt
     3421 cattttccgg gagcactggg cctgacactt tcacactctt ctgactttcg ccttgttgca
     3481 actgatggag catgtgtgct tcctctgagg ccagcctaca ggaggcagct gtttcgcagg
     3541 tggtgaattc gactttactg tggcattgtg aagagcaggg tgcacaggag atgatttttt
     3601 ctccatggct ttgtaagaaa cagccaggaa agttctcaga tactttccat gccctttctt
     3661 tgagttgaaa ctttctattt cccttcagtc agagctcttt actatagtag ttacaaaacc
     3721 agtgctttcc atggctggcc agaaccacag ctgctattcc ttttagaagc catactgctg
     3781 ggtttggcct acttttttca ccgtttctat ggaaataaac ctcacattga tggaaataga
     3841 atgcgtgttt cagaatcatc attcaatatc tgaaatgatt tgattgtaaa ttatctcatg
     3901 gtccctgttt gcaaaccacc ctcttaagag agaacattgt tttggaccta aagcttgaag
     3961 aacggtttat gtatttttct ccttaagtag cattgcattg agtgttaggt tcttttccct
     4021 ttttttcatt cttggtcttc ccaaagcttc ttcccacatt tcgtttgtgt ctgtttccac
     4081 cattcataga aaccttggaa ccactctcac agcaatgcta ggatgtttca tggacctgtt
     4141 aagcattttg atgatacaag acatcctatc aatgccagtc ttattttcgc taggactctg
     4201 cttccacagt aagctcctaa ggtgctcacc caacccagga gaaaacaaaa ttcattacca
     4261 aatacaacag gttcagcctt cttggtcttc cctcagaagc caccgtgtag caccctggaa
     4321 tgatgcctct ttatgccaag gcccaccctt tggaattggg agggttttgg gtagaatcct
     4381 gcacttacag aggcccttgg ggtcattgag aagtggagga ggttggacac agaaggggag
     4441 gctaaacaca aggtggggaa gaaaaaatgt aaccattggc agccagactg aagctagccc
     4501 tttaaaatac ggggttgggg ggttaacatc cgctctttgg aatgtgctca gtgactgctg
     4561 cagagttcct gggccaccct aatgtttacc aggtgggcgt tgtttatatg gttcttattg
     4621 ttatgacaac tagaaatccc acagtagact agacagtgct ccctaccatt tcccatttat
     4681 aggattgaaa tcaagatgta aggagagctg gccgggcgca gggctcacgc ctgtaatccc
     4741 agcactttgg gaggctgagg tgggtggatc gcctgaggtc aggagtttga gaccagcctg
     4801 accaatatgg tgaaaccctg tctctgctga aaatacttaa attagccggg catggtggca
     4861 ggcacctgta gtcccagcta ctcgggagac agagacagaa gaaatgcttg aacccaggag
     4921 gtggaggttc cagtgagccg agatcacgcc accgcactct ctaacctggg cgacagagcg
     4981 agactatctc
//
