LOCUS       NP_003892                568 aa            linear   PRI 21-APR-2025
DEFINITION  sphingosine-1-phosphate lyase 1 isoform 1 [Homo sapiens].
ACCESSION   NP_003892
VERSION     NP_003892.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 568)
  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  (residues 1 to 568)
  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  (residues 1 to 568)
  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  (residues 1 to 568)
  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  (residues 1 to 568)
  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  (residues 1 to 568)
  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  (residues 1 to 568)
  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  (residues 1 to 568)
  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  (residues 1 to 568)
  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 (residues 1 to 568)
  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 Jun 19, 2003 this sequence version replaced NP_003892.1.
            
            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
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     Protein         1..568
                     /product="sphingosine-1-phosphate lyase 1 isoform 1"
                     /EC_number="4.1.2.27"
                     /note="hSPL; SPL 1; SP-lyase 1; sphingosine-1-phosphate
                     aldolase"
                     /calculated_mol_wt=63393
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95470.3)"
     Region          144..507
                     /region_name="DOPA_deC_like"
                     /note="DOPA decarboxylase family. This family belongs to
                     pyridoxal phosphate (PLP)-dependent aspartate
                     aminotransferase superfamily (fold I). The major groups in
                     this CD correspond to DOPA/tyrosine decarboxylase (DDC),
                     histidine decarboxylase (HDC), and...; cd06450"
                     /db_xref="CDD:99743"
     Site            order(210..211,214,286,315,318,350,353)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate binding site [chemical
                     binding]"
                     /db_xref="CDD:99743"
     Site            353
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O95470.3)"
     Site            353
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99743"
     Site            564
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O95470.3)"
     CDS             1..568
                     /gene="SGPL1"
                     /gene_synonym="NPHS14; RENI; S1PL; SPL"
                     /coded_by="NM_003901.4:223..1929"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31216.1"
                     /db_xref="GeneID:8879"
                     /db_xref="HGNC:HGNC:10817"
                     /db_xref="MIM:603729"
ORIGIN      
        1 mpstdllmlk afepyleile vystkaknyv nghctkyepw qliawsvvwt llivwgyefv
       61 fqpeslwsrf kkkcfkltrk mpiigrkiqd klnktkddis knmsflkvdk eyvkalpsqg
      121 lsssavlekl keyssmdafw qegrasgtvy sgeekltell vkaygdfaws nplhpdifpg
      181 lrkieaeivr iacslfnggp dscgcvtsgg tesilmacka yrdlafekgi ktpeivapqs
      241 ahaafnkaas yfgmkivrvp ltkmmevdvr amrraisrnt amlvcstpqf phgvidpvpe
      301 vaklavkyki plhvdaclgg flivfmekag yplehpfdfr vkgvtsisad thkygyapkg
      361 sslvlysdkk yrnyqffvdt dwqggiyasp tiagsrpggi saacwaalmh fgengyveat
      421 kqiiktarfl kselenikgi fvfgnpqlsv ialgsrdfdi yrlsnlmtak gwnlnqlqfp
      481 psihfcitll harkrvaiqf lkdiresvtq imknpkaktt gmgaiygmaq ttvdrnmvae
      541 lssvfldsly stdtvtqgsq mngspkph
//
