LOCUS       NM_138288               2662 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens serine palmitoyltransferase small subunit A (SPTSSA),
            mRNA.
ACCESSION   NM_138288
VERSION     NM_138288.4
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 2662)
  AUTHORS   Srivastava,S., Shaked,H.M., Gable,K., Gupta,S.D., Pan,X.,
            Somashekarappa,N., Han,G., Mohassel,P., Gotkine,M., Doney,E.,
            Goldenberg,P., Tan,Q.K.G., Gong,Y., Kleinstiver,B., Wishart,B.,
            Cope,H., Pires,C.B., Stutzman,H., Spillmann,R.C., Sadjadi,R.,
            Elpeleg,O., Lee,C.H., Bellen,H.J., Edvardson,S., Eichler,F. and
            Dunn,T.M.
  CONSRTM   Undiagnosed Disease Network
  TITLE     SPTSSA variants alter sphingolipid synthesis and cause a complex
            hereditary spastic paraplegia
  JOURNAL   Brain 146 (4), 1420-1435 (2023)
   PUBMED   36718090
  REMARK    GeneRIF: SPTSSA variants alter sphingolipid synthesis and cause a
            complex hereditary spastic paraplegia.
REFERENCE   2  (bases 1 to 2662)
  AUTHORS   Wang,Y., Niu,Y., Zhang,Z., Gable,K., Gupta,S.D., Somashekarappa,N.,
            Han,G., Zhao,H., Myasnikov,A.G., Kalathur,R.C., Dunn,T.M. and
            Lee,C.H.
  TITLE     Structural insights into the regulation of human serine
            palmitoyltransferase complexes
  JOURNAL   Nat Struct Mol Biol 28 (3), 240-248 (2021)
   PUBMED   33558761
REFERENCE   3  (bases 1 to 2662)
  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 2662)
  AUTHORS   Majumder,S., Kono,M., Lee,Y.T., Byrnes,C., Li,C., Tuymetova,G. and
            Proia,R.L.
  TITLE     A genome-wide CRISPR/Cas9 screen reveals that the aryl hydrocarbon
            receptor stimulates sphingolipid levels
  JOURNAL   J Biol Chem 295 (13), 4341-4349 (2020)
   PUBMED   32029474
  REMARK    GeneRIF: A genome-wide CRISPR/Cas9 screen reveals that the aryl
            hydrocarbon receptor stimulates sphingolipid levels.
REFERENCE   5  (bases 1 to 2662)
  AUTHORS   Siow,D., Sunkara,M., Dunn,T.M., Morris,A.J. and Wattenberg,B.
  TITLE     ORMDL/serine palmitoyltransferase stoichiometry determines effects
            of ORMDL3 expression on sphingolipid biosynthesis
  JOURNAL   J Lipid Res 56 (4), 898-908 (2015)
   PUBMED   25691431
REFERENCE   6  (bases 1 to 2662)
  AUTHORS   Hirata,Y., Yamamori,N., Kono,N., Lee,H.C., Inoue,T. and Arai,H.
  TITLE     Identification of small subunit of serine palmitoyltransferase a as
            a lysophosphatidylinositol acyltransferase 1-interacting protein
  JOURNAL   Genes Cells 18 (5), 397-409 (2013)
   PUBMED   23510452
  REMARK    GeneRIF: ssSPTa is identified as an LPIAT1-interacting protein.
REFERENCE   7  (bases 1 to 2662)
  AUTHORS   Han,G., Gupta,S.D., Gable,K., Niranjanakumari,S., Moitra,P.,
            Eichler,F., Brown,R.H. Jr., Harmon,J.M. and Dunn,T.M.
  TITLE     Identification of small subunits of mammalian serine
            palmitoyltransferase that confer distinct acyl-CoA substrate
            specificities
  JOURNAL   Proc Natl Acad Sci U S A 106 (20), 8186-8191 (2009)
   PUBMED   19416851
  REMARK    GeneRIF: discovery of 2 proteins, ssSPTa and ssSPTb, which each
            interacts with both hLCB1 and hLCB2, suggesting[ssSPTa] [ssSPTb]
            Erratum:[Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9931]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC068480.1, AI765163.1 and AL356806.4.
            
            On Nov 22, 2018 this sequence version replaced NM_138288.3.
            
            Summary: Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes
            the first committed and rate-limiting step in sphingolipid
            biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT
            activity and confers acyl-CoA preference to the SPT catalytic
            heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713)
            or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed
            19416851]).[supplied by OMIM, Nov 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.213270.1,
                                           SRR1660805.77291.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298130.5/ ENSP00000298130.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2504              BC068480.1         117-2620
            2505-2512           AI765163.1         5-12                c
            2513-2662           AL356806.4         50241-50390
FEATURES             Location/Qualifiers
     source          1..2662
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.1"
     gene            1..2662
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /note="serine palmitoyltransferase small subunit A"
                     /db_xref="GeneID:171546"
                     /db_xref="HGNC:HGNC:20361"
                     /db_xref="MIM:613540"
     exon            1..145
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..249
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /note="small subunit of serine palmitoyltransferase A"
                     /codon_start=1
                     /product="serine palmitoyltransferase small subunit A"
                     /protein_id="NP_612145.2"
                     /db_xref="CCDS:CCDS9647.2"
                     /db_xref="GeneID:171546"
                     /db_xref="HGNC:HGNC:20361"
                     /db_xref="MIM:613540"
                     /translation="MAGMALARAWKQMSWFYYQYLLVTALYMLEPWERTVFNSMLVSI
                     VGMALYTGYVFMPQHIMAILHYFEIVQ"
     exon            146..2662
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1159
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /note="major polyA site"
     regulatory      2486..2491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /note="hexamer: AATAAA"
     regulatory      2503..2508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /note="hexamer: AATAAA"
     polyA_site      2508
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /note="major polyA site"
     polyA_site      2522
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
     regulatory      2635..2640
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
                     /note="hexamer: ATTAAA"
     polyA_site      2662
                     /gene="SPTSSA"
                     /gene_synonym="C14orf147; SPG90A; SPG90B; SSSPTA"
ORIGIN      
        1 agactgacgt gtgagctgca tcgcgggagg cgcatggcgg ggatggcgct ggcgcgggcc
       61 tggaagcaga tgtcctggtt ctactaccag tacctgctgg tcacggcgct ctacatgctg
      121 gagccctggg agcggacggt gttcaattcc atgctggttt ccattgtggg gatggcacta
      181 tacacaggat acgtcttcat gccccagcac atcatggcga tattgcacta ctttgaaatc
      241 gtacaatgac caagatgcga ccaggatcag aggttccttg gggaagaccc accctacgaa
      301 gttggaatga gaccatcaga tgtgataaga aactcttcta gatgtcaaca taaccaacct
      361 tataaagact aaaattcatg agtagaacag gaaaatcatc ctgactcatg tgttgtgttc
      421 tttattttta attttcaaag aggctcttgt atagcagttt ttgtctattt taacattgta
      481 gtcatttgta ctttgatatc agtattttct taacctttgt gactgtttca atattacccc
      541 cgtgaaagct tttcttaatg taactttgag tacattttaa ttgccttcta tttttaaaac
      601 tcaaaatcat tagttgggct ttactgttct tgctattgta tggcatatac atctgcctgg
      661 atatatttct actcttgacc aaagttttgt aaagaacaat ataagatttc gggtaggggt
      721 atggggaggg aagatatttt attgagaact acttaacaaa agatttatct gtaagcttga
      781 actcaggagt acagttttag ctatctagac tctaacagct tttgctttaa aattattaaa
      841 gtgtttctta atgaaaaaga aaagatcttg ctaaagttaa aataaggaac atttcacctt
      901 ttaaatattt aattcttatg tggacttatt tccagaaaac tttggtgata attcttgaga
      961 caaaaggtgg ttaagtagca ttattatgta atgcttatat accatagagt ttttaataga
     1021 agagaaatcc atttcctccg agggtcacta ttaacaatgt acttccttaa atttagttta
     1081 atgattgtaa tgggtgctgc atttgcacat tgcattaagt tatgatgaga cgaattgttg
     1141 ttaaaaatta tagcaaaaag aaatgtaaac ttggttaaaa tcctttcact ctttgtattg
     1201 ttttttttaa ggtttttatt ccttaaatgt aaaatgacta cctaattttt tgatgtaaat
     1261 acattaaatt caaagagaaa aaaaatcagc tgatgtagca gtatatcttt tccttgatgg
     1321 ttaaatattg atctagtatt tatattgctg aattattttc tgtggaggac cagataagca
     1381 gtaagtatgt cttatcctat atgttttgca acataaaaat attgctaatt gaaaagaatt
     1441 aggcaattat gtgtgttgct gggttgtttt tttgtttttt tttttttgag acggagtctt
     1501 gccctgtcgc ccaggatgga gtgcaacagc atgatctcgg ttcactgcaa cctccatctc
     1561 ctgggatcaa gtgattctcc tgcctcagcc tcctgaatag ctgggattac aggcacctgc
     1621 caccatgcct ggctaatttt ttgtatctgt agtagagacg gggtttcact gtgttggcca
     1681 ggatggtctc aaactcctga cctcctgatc cacctgcctc ggcctcccaa agtgctgggt
     1741 ttacaggcgt gagccaccgc gcccggccaa aattgaggta ttttttgccc tacgttttaa
     1801 ggactagact tttgaagtat tttatagtct agaggtctca agtaatatat atgtgtttaa
     1861 tatttttaga gccaattgat accacaatta gataggagta gtgagaataa tatggaatta
     1921 cttggtttga agtagttaaa aattggatat ggttatatct gagctgtagt catattatct
     1981 caagaaaaat aatacgagga tttaacataa gatttgttct attaatgccc aaatttggct
     2041 ttcctctact atcccccata gagaaccact aacaagtgga tgtctaatat tcctctggtg
     2101 agttgaaggc aggagaagtt gagaatcatt agtttcaatg agtatccagg tgacctatcc
     2161 tggccctcta ctcagaaacc ggcaatttgt cttcactctg agattcatta aattgctgtt
     2221 gtataactga tggttattat gaacactgac ctgtgagaca tatggaagat aaagtttggt
     2281 cttacaggaa atcttgagga gagtcaaaag agaaatggga gatgtctctt gagaggtgat
     2341 cagagaagtt tatgctcact gtctgatgca aatgtctggt ctatttgtta gtaaataaca
     2401 gggaaatcat tttcactttt tgttaaaaat aaggtattta caagcatacc ttgtagttat
     2461 tgtgggttca gtttcagacc actgcaataa agtgaatatc tcaataaagt gagtcacatg
     2521 aagttttttg gttttcccct gcatataaaa gttacattta caccatcctg tagtctatta
     2581 agtgtgcagt agcattatgg ctaaaaaaaa aaaacaccca atatacctat cttaattaaa
     2641 gaattattta ttgctgaaaa aa
//
