Gene Gene information from NCBI Gene database.
Entrez ID 8879
Gene name Sphingosine-1-phosphate lyase 1
Gene symbol SGPL1
Synonyms (NCBI Gene)
NPHS14RENIS1PLSPL
Chromosome 10
Chromosome location 10q22.1
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs746887949 C>G,T Pathogenic Coding sequence variant, stop gained, missense variant
rs769259446 G>A,C Pathogenic Coding sequence variant, missense variant
rs1131692235 C>- Pathogenic Frameshift variant, coding sequence variant
rs1131692252 CTT>- Pathogenic Coding sequence variant, inframe deletion
rs1131692253 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
1423
miRTarBase ID miRNA Experiments Reference
MIRT002370 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT002370 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT002370 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT002370 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT020949 hsa-miR-155-5p Proteomics 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
GATA4 Unknown 21184844
SP1 Unknown 21184844
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0001553 Process Luteinization IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001822 Process Kidney development IEA
GO:0005515 Function Protein binding IPI 21903422, 32296183
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603729 10817 ENSG00000166224
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95470
Protein name Sphingosine-1-phosphate lyase 1 (S1PL) (SP-lyase 1) (SPL 1) (hSPL) (EC 4.1.2.27) (Sphingosine-1-phosphate aldolase)
Protein function Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis (PubMed:11018465, PubMed:14570870, PubMed:24809814, PubMed:28
PDB 4Q6R , 8AYF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00282 Pyridoxal_deC 172 453 Pyridoxal-dependent decarboxylase conserved domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:11018465, PubMed:28165343). Expressed in fetal and adult adrenal gland (at protein level) (PubMed:28165343). {ECO:0000269|PubMed:11018465, ECO:0000269|PubMed:28165343}.
Sequence
MPSTDLLMLKAFEPYLEILEVYSTKAKNYVNGHCTKYEPWQLIAWSVVWTLLIVWGYEFV
FQPESLWSRFKKKCFKLTRKMPIIGRKIQDKLNKTKDDISKNMSFLKVDKEYVKALPSQG
LSSSAVLEKLKEYSSMDAFWQEGRASGTVYSGEEKLTELLVKAYGDFAWSNPLHPDIFPG
LRKIEAEIVRIACSLFNGGPDSCGCVTSGGTESILMACKAYRDLAFEKGIKTPEIVAPQS
AHAAFNKAASYFGMKIVRVPLTKMMEVDVRAMRRAISRNTAMLVCSTPQFPHGVIDPVPE
VAKLAVKYKIPLHVDACLGGFLIVFMEKAGYPLEHPFDFRVKGVTSISADTHKYGYAPKG
SSLVLYSDKKYRNYQFFVDTDWQGGIYASPTIAGSRPGGISAACWAALMHFGENGYVEAT
KQIIKTARFLKSELENIKGIFVFGNPQLSVIAL
GSRDFDIYRLSNLMTAKGWNLNQLQFP
PSIHFCITLLHARKRVAIQFLKDIRESVTQIMKNPKAKTTGMGAIYGMAQTTVDRNMVAE
LSSVFLDSLYSTDTVTQGSQMNGSPKPH
Sequence length 568
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
57
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nephrotic syndrome Pathogenic; Likely pathogenic rs769259446, rs1131692256 RCV001849385
RCV001849386
Nephrotic syndrome 14 Pathogenic; Likely pathogenic rs374024951, rs2492804842, rs2492813518, rs2492765537, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1564622701 RCV001527391
RCV003324601
RCV003989244
RCV004594779
RCV000495961
RCV000495964
RCV000495967
RCV000495963
RCV000495965
RCV000495968
RCV000495962
RCV000495966
RCV000735787
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs11596997, rs11597050 RCV005911537
RCV005920284
Colorectal cancer Benign rs11597050 RCV005920286
Familial cancer of breast Benign rs827255 RCV005918422
Lung cancer Benign rs11596997 RCV005911540
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 30517686
Addison Disease Associate 29685115, 30517686, 38204317
Adenylosuccinate lyase deficiency Associate 29685115
Adrenal Insufficiency Associate 32233035, 32855188, 38204317
Adrenal Insufficiency Inhibit 36868360
Allanson Pantzar McLeod syndrome Associate 32855188
Alzheimer Disease Associate 24468113, 29615132
Bone Diseases Associate 11547832
Brain Diseases Associate 32855188
Breast Neoplasms Associate 29718989