LOCUS       NM_003901               5778 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.
ACCESSION   NM_003901
VERSION     NM_003901.4
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 5778)
  AUTHORS   Tastemel Ozturk,T., Canpolat,N., Saygili,S., Bayrakci,U.S.,
            Soylemezoglu,O., Ozaltin,F. and Topaloglu,R.
  TITLE     A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase
            (SGPL1) deficiency: 6 cases and a review of the literature
  JOURNAL   Pediatr Nephrol 38 (3), 711-719 (2023)
   PUBMED   35748945
  REMARK    GeneRIF: A rare cause of nephrotic syndrome-sphingosine-1-phosphate
            lyase (SGPL1) deficiency: 6 cases and a review of the literature.
            Review article
REFERENCE   2  (bases 1 to 5778)
  AUTHORS   Imeri,F., Stepanovska Tanturovska,B., Manaila,R., Pavenstadt,H.,
            Pfeilschifter,J. and Huwiler,A.
  TITLE     Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction
            in Nephrin Expression That Involves PKCdelta Activation
  JOURNAL   Int J Mol Sci 24 (4), 3267 (2023)
   PUBMED   36834691
  REMARK    GeneRIF: Loss of S1P Lyase Expression in Human Podocytes Causes a
            Reduction in Nephrin Expression That Involves PKCdelta Activation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5778)
  AUTHORS   Tran,P., Jamee,M., Pournasiri,Z., Chavoshzadeh,Z. and Sullivan,K.E.
  TITLE     SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia
  JOURNAL   J Clin Immunol 43 (1), 72-75 (2023)
   PUBMED   36050428
  REMARK    GeneRIF: SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia.
REFERENCE   4  (bases 1 to 5778)
  AUTHORS   Ebenezer,D.L., Ramchandran,R., Fu,P., Mangio,L.A., Suryadevara,V.,
            Ha,A.W., Berdyshev,E., Van Veldhoven,P.P., Kron,S.J.,
            Schumacher,F., Kleuser,B. and Natarajan,V.
  TITLE     Nuclear Sphingosine-1-phosphate Lyase Generated 2-hexadecenal is A
            Regulator of HDAC Activity and Chromatin Remodeling in Lung
            Epithelial Cells
  JOURNAL   Cell Biochem Biophys 79 (3), 575-592 (2021)
   PUBMED   34085165
  REMARK    GeneRIF: Nuclear Sphingosine-1-phosphate Lyase Generated
            2-hexadecenal is A Regulator of HDAC Activity and Chromatin
            Remodeling in Lung Epithelial Cells.
REFERENCE   5  (bases 1 to 5778)
  AUTHORS   Schwiebs,A., Faqar-Uz-Zaman,F., Herrero San Juan,M. and Radeke,H.H.
  TITLE     S1P Lyase Regulates Intestinal Stem Cell Quiescence via Ki-67 and
            FOXO3
  JOURNAL   Int J Mol Sci 22 (11), 5682 (2021)
   PUBMED   34073605
  REMARK    GeneRIF: S1P Lyase Regulates Intestinal Stem Cell Quiescence via
            Ki-67 and FOXO3.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5778)
  AUTHORS   Reiss,U., Oskouian,B., Zhou,J., Gupta,V., Sooriyakumaran,P.,
            Kelly,S., Wang,E., Merrill,A.H. Jr. and Saba,J.D.
  TITLE     Sphingosine-phosphate lyase enhances stress-induced ceramide
            generation and apoptosis
  JOURNAL   J Biol Chem 279 (2), 1281-1290 (2004)
   PUBMED   14570870
  REMARK    GeneRIF: sphingosine-1-phosphate lyase is a dual modulator of
            sphingosine 1-phosphate and ceramide metabolism as well as a
            regulator of cell fate decisions
REFERENCE   7  (bases 1 to 5778)
  AUTHORS   Van Veldhoven,P.P., Gijsbers,S., Mannaerts,G.P., Vermeesch,J.R. and
            Brys,V.
  TITLE     Human sphingosine-1-phosphate lyase: cDNA cloning, functional
            expression studies and mapping to chromosome 10q22(1)
  JOURNAL   Biochim Biophys Acta 1487 (2-3), 128-134 (2000)
   PUBMED   11018465
REFERENCE   8  (bases 1 to 5778)
  AUTHORS   Zhou,J. and Saba,J.D.
  TITLE     Identification of the first mammalian sphingosine phosphate lyase
            gene and its functional expression in yeast
  JOURNAL   Biochem Biophys Res Commun 242 (3), 502-507 (1998)
   PUBMED   9464245
REFERENCE   9  (bases 1 to 5778)
  AUTHORS   Weaver,K.N., Sullivan,B., Hildebrandt,F., Strober,J., Cooper,M.,
            Prasad,R. and Saba,J.
  TITLE     Sphingosine Phosphate Lyase Insufficiency Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33074640
REFERENCE   10 (bases 1 to 5778)
  AUTHORS   Van Veldhoven,P.P. and Mannaerts,G.P.
  TITLE     Subcellular localization and membrane topology of
            sphingosine-1-phosphate lyase in rat liver
  JOURNAL   J Biol Chem 266 (19), 12502-12507 (1991)
   PUBMED   2061324
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP314104.1, BC052991.1 and AC073176.8.
            
            On May 17, 2019 this sequence version replaced NM_003901.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence data to make the sequence
            consistent with the reference genome assembly. The extent of this
            transcript is supported by transcript 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 :: AB033078.1, SRR1803611.239280.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373202.8/ ENSP00000362298.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BP314104.1         1-12
            13-785              BC052991.1         1-773
            786-786             AC073176.8         52206-52206
            787-2424            BC052991.1         775-2412
            2425-5778           AC073176.8         70589-73942
FEATURES             Location/Qualifiers
     source          1..5778
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..5778
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /note="sphingosine-1-phosphate lyase 1"
                     /db_xref="GeneID:8879"
                     /db_xref="HGNC:HGNC:10817"
                     /db_xref="MIM:603729"
     exon            1..179
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            180..249
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     CDS             223..1929
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /EC_number="4.1.2.27"
                     /note="hSPL; SPL 1; SP-lyase 1; sphingosine-1-phosphate
                     aldolase"
                     /codon_start=1
                     /product="sphingosine-1-phosphate lyase 1"
                     /protein_id="NP_003892.2"
                     /db_xref="CCDS:CCDS31216.1"
                     /db_xref="GeneID:8879"
                     /db_xref="HGNC:HGNC:10817"
                     /db_xref="MIM:603729"
                     /translation="MPSTDLLMLKAFEPYLEILEVYSTKAKNYVNGHCTKYEPWQLIA
                     WSVVWTLLIVWGYEFVFQPESLWSRFKKKCFKLTRKMPIIGRKIQDKLNKTKDDISKN
                     MSFLKVDKEYVKALPSQGLSSSAVLEKLKEYSSMDAFWQEGRASGTVYSGEEKLTELL
                     VKAYGDFAWSNPLHPDIFPGLRKIEAEIVRIACSLFNGGPDSCGCVTSGGTESILMAC
                     KAYRDLAFEKGIKTPEIVAPQSAHAAFNKAASYFGMKIVRVPLTKMMEVDVRAMRRAI
                     SRNTAMLVCSTPQFPHGVIDPVPEVAKLAVKYKIPLHVDACLGGFLIVFMEKAGYPLE
                     HPFDFRVKGVTSISADTHKYGYAPKGSSLVLYSDKKYRNYQFFVDTDWQGGIYASPTI
                     AGSRPGGISAACWAALMHFGENGYVEATKQIIKTARFLKSELENIKGIFVFGNPQLSV
                     IALGSRDFDIYRLSNLMTAKGWNLNQLQFPPSIHFCITLLHARKRVAIQFLKDIRESV
                     TQIMKNPKAKTTGMGAIYGMAQTTVDRNMVAELSSVFLDSLYSTDTVTQGSQMNGSPK
                     PH"
     exon            250..415
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            416..483
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            484..631
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            632..708
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            709..837
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            838..926
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1032
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1131
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1281
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1520
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1521..1667
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1668..1788
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1789..5778
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4676..4681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /note="hexamer: ATTAAA"
     polyA_site      4704
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /note="major polyA site"
ORIGIN      
        1 atttccggga ggggcgaggc cggcggctgc cgggcctcca atctcggcgg cggcggcggc
       61 aacaggggag cctgggtctc gcggcctgcg agtccgtcgc gtgctgaggg agacgcagga
      121 ggtggagccg gccgggtgct cgagggaagg agactggaag ctggttccgg cgtgaggaga
      181 gtctgaaaaa ggggagcgcg gagaggaggc tggaagagga agatgcctag cacagacctt
      241 ctgatgttga aggcctttga gccctactta gagattttgg aagtatactc cacaaaagcc
      301 aagaattatg taaatggaca ttgcaccaag tatgagccct ggcagctaat tgcatggagt
      361 gtcgtgtgga ccctgctgat agtctgggga tatgagtttg tcttccagcc agagagttta
      421 tggtcaaggt ttaaaaagaa atgttttaag ctcaccagga agatgcccat tattggtcgt
      481 aagattcaag acaagttgaa caagaccaag gatgatatta gcaagaacat gtcattcctg
      541 aaagtggaca aagagtatgt gaaagcttta ccctcccagg gtctgagctc atctgctgtt
      601 ttggagaaac ttaaggagta cagctctatg gacgccttct ggcaagaggg gagagcctct
      661 ggaacagtgt acagtgggga ggagaagctc actgagctcc ttgtgaaggc ttatggagat
      721 tttgcatgga gtaaccccct gcatccagat atcttcccag gactacgcaa gatagaggca
      781 gaaatcgtga ggatagcttg ttccctgttc aatgggggac cagattcgtg tggatgtgtg
      841 acttctgggg gaacagaaag catactgatg gcctgcaaag catatcggga tctggccttt
      901 gagaagggga tcaaaactcc agaaattgtg gctccccaaa gtgcccatgc tgcatttaac
      961 aaagcagcca gttactttgg gatgaagatt gtgcgggtcc cattgacgaa gatgatggag
     1021 gtggatgtgc gggcaatgag aagagctatc tccaggaaca ctgccatgct cgtctgttct
     1081 accccacagt ttcctcatgg tgtaatagat cctgtccctg aagtggccaa gctggctgtc
     1141 aaatacaaaa taccccttca tgtcgacgct tgtctgggag gcttcctcat cgtctttatg
     1201 gagaaagcag gatacccact ggagcaccca tttgatttcc gggtgaaagg tgtaaccagc
     1261 atttcagctg acacccataa gtatggctat gccccaaaag gctcatcatt ggtgttgtat
     1321 agtgacaaga agtacaggaa ctatcagttc ttcgtcgata cagattggca gggtggcatc
     1381 tatgcttccc caaccatcgc aggctcacgg cctggtggca ttagcgcagc ctgttgggct
     1441 gccttgatgc acttcggtga gaacggctat gttgaagcta ccaaacagat catcaaaact
     1501 gctcgcttcc tcaagtcaga actggaaaat atcaaaggca tctttgtttt tgggaatccc
     1561 caattgtcag tcattgctct gggatcccgt gattttgaca tctaccgact atcaaacctg
     1621 atgactgcta aggggtggaa cttgaaccag ttgcagttcc cacccagtat tcatttctgc
     1681 atcacattac tacacgcccg gaaacgagta gctatacaat tcctaaagga cattcgagaa
     1741 tctgtcactc aaatcatgaa gaatcctaaa gcgaagacca caggaatggg tgccatctat
     1801 ggcatggccc agacaactgt tgacaggaat atggttgcag aattgtcctc agtcttcttg
     1861 gacagcttgt acagcaccga cactgtcacc cagggcagcc agatgaatgg ttctccaaaa
     1921 ccccactgaa cttggaccct ttctagtctc aaggggattc cagccttcag aaggttcttg
     1981 ggatatggaa caggccgtgc acaactttga catctggtct tgctccatag agcacaactc
     2041 aagatagacc atgagacagc ttgagcctca ggattcttgt tcttcctctt atcttccttt
     2101 tgtggttttt aatttgaaga ccccagagaa ttccattaca taatgatttt gcccttgtta
     2161 taaatgttac cctaggaatt gttttaacca tttccttttc taaactctct agctttcaac
     2221 tttacttaaa cattgtgtgg tagctctgac ctgtcctgat tctttagaga agctggggta
     2281 cagtttatga gatagctaga gcttctttgt tatctcaggc aggaggcgtt tacataacag
     2341 atgtttcctc agctgggtgt gaggtatact ctaagcagga ggctttttca gccttctctc
     2401 tctttttttt tttttttttt ttttttgaga tggaattttg ctcttttgcc cagtctggag
     2461 tgcagtggca tgatctcagc tcactgcaac ctccacccac tgggttcaag cgattcttct
     2521 gcctcagcct cccgagtagc tgggattacc ggcacccacc accacgcctg gctaattttt
     2581 caattttctt tttcagtaga gacgggttca ccgtgttggc caggctggtc ttgaactcct
     2641 gacctcaggt gatacccgcc cccccgcctc agcctcccaa agtgctggga ttacaggcgt
     2701 gagccaccgt gcctggccct gtctctctta agagtaggtt cattgtctgt cttagagtca
     2761 cttctattgc aactcatttt ctttttccag ggcacagatc gaccaagctg ccgttcccta
     2821 ttctgcagga caggactatt ctagcatacc tgcttcgtcc acccaggcag ggtttggggt
     2881 ggtctcttct gtgcctgcag tccccatttg acacttggtt gccaccatct ttggagatta
     2941 ttgtttggaa tgatgcttcc attggctttt tcttgttacc atggactagg aagaaaacat
     3001 ggtttccaaa taatctggga gcttttggcc atggtgccgc cttcctgaat tggcagtggt
     3061 cagagcacac ctgaacccta tcctgggctg gtgatgagca gaaatcagac ctttttctat
     3121 gcttttttga atatcagagt aggatgaaca cccagattca aatatgtcac caaagttggt
     3181 ggtggtcctt ccctgcaccc ttgcgttaag ccattatgta atgaaaatgt gtttgcttga
     3241 aggaacagct caaagcacct tcacaagttg ccttgactta ccctaggtgg gtgtgaaaga
     3301 gcacccgtag caaggaaaat tttctctatt agtgtgttct tctgcctctt cccccttgat
     3361 tcagctttca gaggtactat ggcagttttg cctcaggtgc tgaacatttc tcagccctgg
     3421 ctaaaaggga gcagcacagg gagagaaaca ggataggaaa gcagaatggc gagcagccta
     3481 tggcccaggg cctgtaatcc cttcccaaga ctagctgctc agggtggtgc agggacagga
     3541 ccagaccctg cgcctatttc ctgccttctt tcccctatag ggaactctgt aggctgagcc
     3601 actgtcctgc tcttatgaca ttatatcttg tgcctttctc ctcagcagtg agcagtgagc
     3661 tactcctggc ccaggcccta ggggaaatgg atcagtcttt gaggtttcta tttggggagg
     3721 ggagtactta agatgagtca aaagacactt tcctctgttc cattccccat ctcagggact
     3781 cctgaatatt cagcctctcc aggctggtgt cttctagttt cccccactgg gaatgctggc
     3841 tgggagagcc atgactacca gacttttcct caggctcctt ggcatgttag tctgaattgt
     3901 tcttgagcac tgtactactg acccaacaac tgtgactagc tggccacgcc attcagggct
     3961 ggtgtggcat ttatgtgtgt gtgtgtgtgt gtgtgtgttt ttcctgtttg cccagcagtg
     4021 cattgtgggt tccaagagtg ggtagtgtgt gtatgtgtgt gtgtcagagg gagacctggc
     4081 aggcacctct ttgagagtag ctgtggtcag agctgtttgg tcagtgcatt atgttgaatg
     4141 aggtccagga acccagagcc acccagcaga caccactgtg gcttgccagc tgccaagatg
     4201 gagaagcatg tgcccctgta gagcgtctcc ccagaaccag accccgagcc actcgcttcc
     4261 tctgtgctgt gacaacattg gtgccagggg agatggtgtt tttcaaaggg acctactgta
     4321 gccactttaa tttacaatta agagccttag tttgacttaa cacttttgta ggcttttcat
     4381 tgtgtatttt tgtgtatgtg tgcatatagc agctactctg tagcagaggt gggtagagac
     4441 acttaatagt atcatgtcgc atgcagatgt cacatcggcc tctgcaaaaa ctgtactgtc
     4501 ttgtttctgc attagactta agtagtcatg tgaatatact gctatgtcac ttttaatatt
     4561 acgagtttta tacttggaaa atggtacttg cttcttttaa atctctgtct tctctaacct
     4621 cccccttccc atttcaatgc tcccttccta atttcagcaa taatctcaaa aagcaattaa
     4681 atagttaaat gaccctaatt gtaattactg tggatggttg cattcatttg attacttggg
     4741 cacacacgag atgacaaatg gggcagtggc catgcttgaa tgggctcctg gtgagagatt
     4801 gccccctggt ggtgaaacaa tcgtgtgtgc ccactgatac caagaccaat gaaagagaca
     4861 cagttaagca gcaatccatc tcatttccag gcacttcaat aggtcgctga ttggtccttg
     4921 caccagcagt ggtagtcgta cctatttcag agaggtctga aattcaggtt cttagtttgc
     4981 cagggacagg ccctatctta tatttttttc catcttcatc atccacttct gcttacagtt
     5041 tgctgcttac aataacttaa tgatggattg agttatctgg gtggtctcta gccatctggg
     5101 cagtgtggtt ctgtctaacc aaagggcatt ggcctcaaac cctgcatttg gtttaggggc
     5161 taacagagct cctcagataa tcttcacaca catgtaactg ctggagatct tattctatta
     5221 tgaataagaa acgagaagtt tttccaaagt gttagtcagg atctgaaggc tgtcattcag
     5281 ataacccagc ttttcctttt ggcttttagc ccattcagac tttgccagag tcaagccaag
     5341 gattgctttt ttgctacagt tttctgccaa atggcctagt tcctgagtac ctggaaacca
     5401 gagagaaaga ggatccagga tgtacttgga tgaggaggcc tggcttatct aggaagtcgt
     5461 gtctggggtg cttattgctg ctccatacag ctgtacgtca gccccttggc cttctctgta
     5521 ggttcttggc agcaatgagc agctttcact cagtgacaca agtaattact gagtcctaat
     5581 ttgatagcca ccaactgtac ctgggtaggc aaagtcagat ttttgagaac ctttttcctg
     5641 atttgaagtt ttaattacct tattttcttt tatgctttcc tctgtcttgt aatcttttct
     5701 cttcttaata tccttcccta taatttcaat tatttggatt aattttagaa taaacctatt
     5761 tatttctaaa aaaaaaaa
//
