SGPL1

Also known as S1PL, SPL, sphingosine-1-phosphate lyase 1

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

Gene data

SGPL1

Name: sphingosine-1-phosphate lyase 1
Type: protein-coding
Position: 70,815,899–70,958,721 (+)
Aliases: NPHS14, RENI, S1PL, SPL
Ensembl: ENSG00000166224
RefSeq RNA: NM_001437828.1, NM_001438353.1, NM_001438354.1, NM_001438355.1, NM_001438356.1
RefSeq protein: NP_001424757.1, NP_001425282.1, NP_001425283.1, NP_001425284.1, NP_001425285.1

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]

Pathways

Sphingolipid metabolism - Homo sapiens (human)Sphingolipid signaling pathway - Homo sapiens (human)Metabolism Sphingolipid metabolism Metabolism of lipids Sphingolipid catabolism Sphingolipid pathway Kennedy pathway from sphingolipids Sphingolipid Metabolism (general overview)Sphingolipid Metabolism (integrated pathway)

via MyGene.info

Gene · Ensembl

sphingosine-1-phosphate lyase 1

Symbol: SGPL1
Biotype: Protein coding
Organism: Homo sapiens
Location: 10:70,815,899-70,958,721
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: SGPL1.png

Show 9 more facts

HomoloGene ID: 2897
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/8879
genomic end: 70881184
genomic start: 70815948
chromosome: human chromosome 10
cytogenetic location: 10q22.1
genetic association: nephrotic syndrome
expressed in: ganglionic eminence

Sources (5)

via Wikidata · CC0

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Encyclopedic overview

3 sections

Contents

Pathology
References
Further reading

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.

Excerpted from Wikipedia’s “SGPL1” article, available under the CC BY-SA 4.0 licence.