SGPL1

SGPL1
Identifiers
Aliases	SGPL1, S1PL, SPL, sphingosine-1-phosphate lyase 1
External IDs	OMIM: 603729; MGI: 1261415; HomoloGene: 2897; GeneCards: SGPL1; OMA:SGPL1 - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4Q6R
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 4.1.2.27 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 10 (human) Band 10q22.1 Start 70,815,948 bp End 70,881,184 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 B4|10 32.14 cM Start 60,934,421 bp End 60,983,482 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh gingival epithelium sural nerve ventricular zone skin of arm germinal epithelium islet of Langerhans secondary oocyte epithelium of nasopharynx ganglionic eminence Top expressed in transitional epithelium of urinary bladder olfactory epithelium stroma of bone marrow gastrula decidua lip thymus jejunum granulocyte skin of external ear More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding catalytic activity lyase activity pyridoxal phosphate binding carboxy-lyase activity sphinganine-1-phosphate aldolase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane integral component of endoplasmic reticulum membrane endoplasmic reticulum Biological process fibroblast migration roof of mouth development luteinization Leydig cell differentiation estrogen metabolic process androgen metabolic process kidney development ceramide metabolic process regulation of multicellular organism growth lipid metabolism carboxylic acid metabolic process skeletal system morphogenesis sphingolipid biosynthetic process post-embryonic development fatty acid metabolic process female gonad development vasculogenesis nitrogen compound metabolic process spermatogenesis apoptotic signaling pathway platelet-derived growth factor receptor signaling pathway face morphogenesis apoptotic process sphingolipid metabolic process sphingolipid catabolic process hemopoiesis ameboidal-type cell migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8879 20397 Ensembl ENSG00000166224 ENSMUSG00000020097 UniProt O95470 Q8R0X7 RefSeq (mRNA) NM_003901 NM_009163 NM_001316673 NM_001316674 RefSeq (protein) NP_003892 NP_001303602 NP_001303603 NP_033189 Location (UCSC) Chr 10: 70.82 – 70.88 Mb Chr 10: 60.93 – 60.98 Mb PubMed search
Wikidata
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Sphingosine-1-phosphate lyase 1 is an enzyme that, in humans, is encoded by the SGPL1 gene.

Pathology

A mutation in the gene can lead to sphingosine phosphate lyase insufficiency syndrome, which can cause steroid-resistant nephrotic syndrome with multisystemic manifestations, as such as ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects.

Further reading

• Van Veldhoven PP, Mannaerts GP (1991). "Subcellular localization and membrane topology of sphingosine-1-phosphate lyase in rat liver". J. Biol. Chem. 266 (19): 12502–7. doi:10.1016/S0021-9258(18)98927-1. PMID 2061324.
• Nagase T, Ishikawa K, Kikuno R, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
• Van Veldhoven PP, Gijsbers S, Mannaerts GP, et al. (2000). "Human sphingosine-1-phosphate lyase: cDNA cloning, functional expression studies and mapping to chromosome 10q22(1)". Biochim. Biophys. Acta. 1487 (2–3): 128–34. doi:10.1016/s1388-1981(00)00079-2. PMID 11018465.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Reiss U, Oskouian B, Zhou J, et al. (2004). "Sphingosine-phosphate lyase enhances stress-induced ceramide generation and apoptosis". J. Biol. Chem. 279 (2): 1281–90. doi:10.1074/jbc.M309646200. PMID 14570870.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Zhan X, Desiderio DM (2006). "Nitroproteins from a human pituitary adenoma tissue discovered with a nitrotyrosine affinity column and tandem mass spectrometry". Anal. Biochem. 354 (2): 279–89. doi:10.1016/j.ab.2006.05.024. PMID 16777052.