SGPL1

SGPL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4Q6R
Identifiers
Aliases	SGPL1 , S1PL, SPL, sphingosine-1-phosphate lyase 1
External IDs	OMIM: 603729; MGI: 1261415; HomoloGene: 2897; GeneCards: SGPL1; OMA:SGPL1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q22.1 Start 70,815,948 bp [1] End 70,881,184 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10 B4|10 32.14 cM Start 60,934,421 bp [2] End 60,983,482 bp [2]
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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sphingosine-1-phosphate lyase 1 is an enzyme that, in humans, is encoded by the SGPL1 gene. ^{[5] [6] [7]}

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. ^{[8] [9]}

References

1. GRCh38: Ensembl release 89: ENSG00000166224 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020097 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Zhou J, Saba JD (Mar 1998). "Identification of the first mammalian sphingosine phosphate lyase gene and its functional expression in yeast". Biochem Biophys Res Commun. 242 (3): 502–7. doi:10.1006/bbrc.1997.7993. PMID   9464245.
6. Oskouian B, Sooriyakumaran P, Borowsky AD, Crans A, Dillard-Telm L, Tam YY, Bandhuvula P, Saba JD (Nov 2006). "Sphingosine-1-phosphate lyase potentiates apoptosis via p53- and p38-dependent pathways and is down-regulated in colon cancer". Proc Natl Acad Sci U S A. 103 (46): 17384–9. Bibcode:2006PNAS..10317384O. doi: 10.1073/pnas.0600050103 . PMC   1859938 . PMID   17090686.
7. "Entrez Gene: SGPL1 sphingosine-1-phosphate lyase 1".
8. Maharaj A, Kwong R, Williams J, et al. (Jul 2022). "A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review". Endocr Connect. doi:10.1530/EC-22-0250. PMID   35904228.
9. Lovric S, Goncalves S, Gee HY, et al. (Mar 2017). "Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency". J Clin Invest. doi:10.1172/JCI89626. PMID   28165339.

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.