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)
End	70,881,184 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	60,983,482 bp
RNA expression pattern
	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
	; ; ; ;
	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
	8879
	20397
	ENSG00000166224
	ENSMUSG00000020097
	O95470
	Q8R0X7
	NM_003901
	NM_009163; NM_001316673; NM_001316674
	NP_003892
	NP_001303602; NP_001303603; NP_033189
	Wikidata
View/Edit Human	View/Edit Mouse

Sphingosine-1-phosphate lyase 1 is an enzyme that, in humans, is encoded by the SGPL1 gene.⁵⁶⁷

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.⁸⁹

References

GRCh38: Ensembl release 89: ENSG00000166224 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020097 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: SGPL1 sphingosine-1-phosphate lyase 1".
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. PMC 9346324. PMID 35904228.
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. hdl:2078.1/204417. PMC 5330730. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166224 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9464245-5] 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.

[pmid17090686-6] 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.

[entrez-7] "Entrez Gene: SGPL1 sphingosine-1-phosphate lyase 1".

[pmid35904228-8] 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. PMC 9346324. PMID 35904228.

[pmid28165339-9] 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. hdl:2078.1/204417. PMC 5330730. PMID 28165339.

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