SGPL1 - sphingosine-1-phosphate lyase 1 Gene

Homo sapiens

Also known as SPL; S1PL; NPHS14

Gene ID: 8879 | Gene type: protein coding

About SGPL1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:70,815,948-70,881,184 (from NCBI)

This gene has 18 transcripts (splice variants), 212 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in urinary bladder (RPKM 14.9), skin (RPKM 13.8) and 25 other tissues.

Summary

Enables sphinganine-1-phosphate aldolase activity. Involved in apoptotic signaling pathway; fatty acid metabolic process; and sphingolipid metabolic process. Located in endoplasmic reticulum. Implicated in nephrotic syndrome type 14. [provided by Alliance of Genome Resources, Apr 2022]

SGPL1 Products(1)

mRNA	Protein	Name
NM_003901.4	NP_003892.2	sphingosine-1-phosphate lyase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21903422	GOA
enables sphinganine-1-phosphate aldolase activity	IDA IDA: Inferred from direct assay	14570870	GOA
enables sphinganine-1-phosphate aldolase activity	IMP IMP: Inferred from mutant phenotype	28165339	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in apoptotic signaling pathway	IDA IDA: Inferred from direct assay	14570870	GOA
involved in ceramide metabolic process	IDA IDA: Inferred from direct assay	14570870	GOA
involved in fatty acid metabolic process	IDA IDA: Inferred from direct assay	24809814	GOA
involved in sphingolipid catabolic process	IDA IDA: Inferred from direct assay	24809814	GOA
involved in sphingolipid catabolic process	IMP IMP: Inferred from mutant phenotype	28165339	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	14570870	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SGPL1 Protein Structure

Pyridoxal_deC

0
100
200
300
400
500
568 a.a.

Protein Preferred Names

Protein Names

sphingosine-1-phosphate lyase 1

SP-lyase 1

Related Diseases

Diseases

Alias

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Niemann-Pick Disease, Type B

Niemann-Pick Disease Type B	Acid Sphingomyelinase Deficiency, Visceral Type
Asmd, Visceral Type	Niemann Pick Disease Type B
Chronic Visceral Acid Sphingomyelinase Deficiency	Chronic Visceral Asmd
Npd-B	Niemann-Pick Disease B
NPDB	Niemann-Pick Disease Adult Non-Neuronopathic Form
Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression	Niemann-Pick Disease Type E
Niemann-Pick Disease Type F	Niemann-Pick Disease Type I
Niemann-Pick Disease Visceral Form	Npb
Sphingomyelinase Deficiency	Sphingomyelin Lipidosis
Niemann-Picks Disease Type B	Niemann-Pick Disease, Type E
Niemann-Pick Diseases	Niemann-Pick Disease, Type A

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome	Triple-A Syndrome
Achalasia-Addisonianism-Alacrimia Syndrome	Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
Triple A Syndrome	Aaa Syndrome
AAAS	Glucocorticoid Deficiency With Achalasia
Glucocorticoid Deficiency And Achalasia	Addisonian-Achalasia Syndrome
Hypoadrenalism With Achalasia	Alacrima-Achalasia-Addisonianism
Aaa	Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima
Achalasia Addisonianism Alacrimia Syndrome	Achalasia Alacrima Syndrome
Addisonian Achalasia Syndrome	Achalasia-Addisonian Syndrome
Achalasia-Alacrima Syndrome	2a Syndrome
3a Syndrome	4a Syndrome
Adrenal Insufficiency-Achalasia-Alacrima Syndrome	Double A Syndrome
Quaternary A Syndrome	Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima
Allgrove'S Syndrome	Adrenal Gland Hypofunction
Adrenal Cortical Hypofunction

Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency	Acth Resistance
Adrenal Unresponsiveness To Acth	Hereditary Unresponsiveness To Adrenocorticotropic Hormone
Isolated Glucocorticoid Deficiency	Glucocorticoid Deficiency, Familial
Glucocorticoid Deficiency 1

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-D2284	SGPL1 fluorogenic substrate		/	Unkown
HY-RS12809	SGPL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SGPL1	VGNC	VGNC:46102
Bos taurus	SGPL1	VGNC	VGNC:34547
Macaca mulatta	SGPL1	VGNC	VGNC:77196
Felis catus	SGPL1	VGNC	VGNC:65083
Rattus norvegicus	SGPL1	RGD	RGD:628599
Mus musculus	SGPL1	MGD	MGI:1261415

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