Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8879
Gene name Gene Name - the full gene name approved by the HGNC.
Sphingosine-1-phosphate lyase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SGPL1
Synonyms (NCBI Gene) Gene synonyms aliases
NPHS14, RENI, S1PL, SPL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RENI
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
GATA4 Unknown 21184844
SP1 Unknown 21184844
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001553 Process Luteinization IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001667 Process Ameboidal-type cell migration IBA 21873635
GO:0001822 Process Kidney development IEA
GO:0005515 Function Protein binding IPI 21903422, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603729 10817 ENSG00000166224
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Nephrotic Syndrome nephrotic syndrome 14 GenCC
Seborrheic dermatitis Seborrheic dermatitis GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
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