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Aliases for SGPL1 Gene

Aliases for SGPL1 Gene

  • Sphingosine-1-Phosphate Lyase 1 2 3 5
  • Sphingosine-1-Phosphate Aldolase 3 4
  • SP-Lyase 1 3 4
  • SPL 1 3 4
  • S1PL 3 4
  • HSPL 3 4
  • EC 4.1.2.27 4
  • KIAA1252 4
  • NPHS14 3
  • SPL 3

External Ids for SGPL1 Gene

Previous GeneCards Identifiers for SGPL1 Gene

  • GC10P071360
  • GC10P071679
  • GC10P072468
  • GC10P071920
  • GC10P072245
  • GC10P072575
  • GC10P066569

Summaries for SGPL1 Gene

GeneCards Summary for SGPL1 Gene

SGPL1 (Sphingosine-1-Phosphate Lyase 1) is a Protein Coding gene. Diseases associated with SGPL1 include Nephrotic Syndrome 14 and Nephrotic Syndrome. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and sphinganine-1-phosphate aldolase activity.

UniProtKB/Swiss-Prot for SGPL1 Gene

  • Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis.

Gene Wiki entry for SGPL1 Gene

Additional gene information for SGPL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGPL1 Gene

Genomics for SGPL1 Gene

GeneHancer (GH) Regulatory Elements for SGPL1 Gene

Promoters and enhancers for SGPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I070815 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 571.2 +0.5 515 2.4 CLOCK ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 E2F8 ZNF207 ZNF143 SGPL1 GC10P070863
GH10I070831 Enhancer 1.3 FANTOM5 Ensembl ENCODE 30.9 +17.2 17239 3.7 SOX13 SAP130 JUN MAX ZNF644 RAD21 RARA YY1 FOSL1 ZNF316 SGPL1 PCBD1 GC10P070863
GH10I070851 Enhancer 0.8 ENCODE 39.4 +35.9 35865 1 ELF3 THRB RARA YY1 CREM MIXL1 HMG20B RXRA PPARG NR2F2 SGPL1 PCBD1 GC10P070863
GH10I071212 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 +397.5 397483 2.7 ATF1 FOXA2 ARNT SIN3A FEZF1 ZNF2 ZNF48 ZNF121 ZNF766 GLIS2 UNC5B SGPL1 UNC5B-AS1
GH10I070843 Enhancer 0.7 ENCODE 39.5 +29.0 28994 2.9 FOXA2 TEAD4 TAL1 FOSL1 TCF12 NCOR1 CBFA2T2 ZNF280C MTA2 FOXA3 SGPL1 TYSND1 PCBD1 GC10P070863
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SGPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SGPL1 gene promoter:

Genomic Locations for SGPL1 Gene

Genomic Locations for SGPL1 Gene
chr10:70,815,948-70,881,189
(GRCh38/hg38)
Size:
65,242 bases
Orientation:
Plus strand
chr10:72,575,704-72,640,946
(GRCh37/hg19)

Genomic View for SGPL1 Gene

Genes around SGPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGPL1 Gene

Proteins for SGPL1 Gene

  • Protein details for SGPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95470-SGPL1_HUMAN
    Recommended name:
    Sphingosine-1-phosphate lyase 1
    Protein Accession:
    O95470
    Secondary Accessions:
    • B2RBD4
    • Q7Z732
    • Q9ULG8
    • Q9UN89

    Protein attributes for SGPL1 Gene

    Size:
    568 amino acids
    Molecular mass:
    63524 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAA86566.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SGPL1 Gene

neXtProt entry for SGPL1 Gene

Post-translational modifications for SGPL1 Gene

  • Ubiquitination at isoforms=114, posLast=131131, and isoforms=263

Other Protein References for SGPL1 Gene

No data available for DME Specific Peptides for SGPL1 Gene

Domains & Families for SGPL1 Gene

Gene Families for SGPL1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SGPL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95470

UniProtKB/Swiss-Prot:

SGPL1_HUMAN :
  • Belongs to the group II decarboxylase family. Sphingosine-1-phosphate lyase subfamily.
Family:
  • Belongs to the group II decarboxylase family. Sphingosine-1-phosphate lyase subfamily.
genes like me logo Genes that share domains with SGPL1: view

Function for SGPL1 Gene

Molecular function for SGPL1 Gene

GENATLAS Biochemistry:
sphingosine-1-phosphate lyase 1,pyridoxal dependent,involved in the proliferative signal transduction pathways
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5.2 uM for sphingosine 1-phosphate {ECO:0000269 PubMed:24809814};
UniProtKB/Swiss-Prot CatalyticActivity:
Sphinganine 1-phosphate = phosphoethanolamine + palmitaldehyde.
UniProtKB/Swiss-Prot Function:
Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis.

Enzyme Numbers (IUBMB) for SGPL1 Gene

Phenotypes From GWAS Catalog for SGPL1 Gene

Gene Ontology (GO) - Molecular Function for SGPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 21903422
GO:0008117 sphinganine-1-phosphate aldolase activity TAS --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
genes like me logo Genes that share ontologies with SGPL1: view
genes like me logo Genes that share phenotypes with SGPL1: view

Animal Models for SGPL1 Gene

MGI Knock Outs for SGPL1:

miRNA for SGPL1 Gene

miRTarBase miRNAs that target SGPL1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SGPL1 Gene

Localization for SGPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGPL1 Gene

Endoplasmic reticulum membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGPL1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 2
cytosol 2
golgi apparatus 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SGPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 14570870
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane NAS 11018465
genes like me logo Genes that share ontologies with SGPL1: view

Pathways & Interactions for SGPL1 Gene

genes like me logo Genes that share pathways with SGPL1: view

Pathways by source for SGPL1 Gene

UniProtKB/Swiss-Prot O95470-SGPL1_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for SGPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001553 luteinization IEA --
GO:0001570 vasculogenesis IEA --
GO:0001822 kidney development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IDA 24809814
genes like me logo Genes that share ontologies with SGPL1: view

No data available for SIGNOR curated interactions for SGPL1 Gene

Drugs & Compounds for SGPL1 Gene

(5) Drugs for SGPL1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Hexadecanal Experimental Pharma 0
Phosphorylcolamine Experimental Pharma 0
sphingosine 1-phosphate Pharma Full agonist, Agonist 0

(31) Additional Compounds for SGPL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cer(d18:0/12:0)
Cer(d18:0/14:0)
Cer(d18:0/16:0)
Cer(d18:0/18:0)
Cer(d18:0/18:1(11Z))
genes like me logo Genes that share compounds with SGPL1: view

Transcripts for SGPL1 Gene

Unigene Clusters for SGPL1 Gene

Sphingosine-1-phosphate lyase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SGPL1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^
SP1: - - - - - - - - -
SP2: - - -
SP3: - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - -
SP7: - - -
SP8: - - - - - - -
SP9: - - - - -
SP10: - - - - -
SP11: -
SP12: -
SP13: - - - -

ExUns: 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SGPL1 Gene

GeneLoc Exon Structure for
SGPL1
ECgene alternative splicing isoforms for
SGPL1

Expression for SGPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SGPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SGPL1 Gene

This gene is overexpressed in Nasal epithelium (22.5) and Lymph node (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SGPL1 Gene



Protein tissue co-expression partners for SGPL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SGPL1 Gene:

SGPL1

SOURCE GeneReport for Unigene cluster for SGPL1 Gene:

Hs.499984

mRNA Expression by UniProt/SwissProt for SGPL1 Gene:

O95470-SGPL1_HUMAN
Tissue specificity: Ubiquitously expressed (PubMed:11018465, PubMed:28165343). Expressed in fetal and adult adrenal gland (at protein level) (PubMed:28165343).

Evidence on tissue expression from TISSUES for SGPL1 Gene

  • Nervous system(4.5)
  • Skin(4.2)
  • Lung(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with SGPL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SGPL1 Gene

Orthologs for SGPL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SGPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGPL1 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia SGPL1 33 34
  • 89.61 (n)
cow
(Bos Taurus)
Mammalia SGPL1 33 34
  • 87.5 (n)
rat
(Rattus norvegicus)
Mammalia Sgpl1 33
  • 85.27 (n)
mouse
(Mus musculus)
Mammalia Sgpl1 33 16 34
  • 84.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SGPL1 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGPL1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGPL1 33
  • 67.98 (n)
lizard
(Anolis carolinensis)
Reptilia SGPL1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgpl1 33
  • 67.22 (n)
Str.10102 33
zebrafish
(Danio rerio)
Actinopterygii sgpl1 33 34
  • 65.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sply 35 33 34
  • 55.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001724 33
  • 54.93 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-38 33 34
  • 49.31 (n)
Y66H1B.4 35
  • 43 (a)
spl-1 34
  • 42 (a)
OneToMany
Y104H12D.3 35 34
  • 40 (a)
B0222.4 35
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPL1 33 34 36
  • 52.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10505g 33
  • 50.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DPL1 33
  • 50.55 (n)
rice
(Oryza sativa)
Liliopsida Os01g0100900 33
  • 49.11 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06761 33
  • 51.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9336 34
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13999 33
Species where no ortholog for SGPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SGPL1 Gene

ENSEMBL:
Gene Tree for SGPL1 (if available)
TreeFam:
Gene Tree for SGPL1 (if available)

Paralogs for SGPL1 Gene

No data available for Paralogs for SGPL1 Gene

Variants for SGPL1 Gene

Sequence variations from dbSNP and Humsavar for SGPL1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs746887949 pathogenic, NEPHROTIC SYNDROME 14 70,876,608(+) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs769259446 pathogenic, NEPHROTIC SYNDROME 14, Nephrotic syndrome 14 (NPHS14) [MIM:617575] 70,868,394(+) G/A coding_sequence_variant, missense_variant
rs779485098 Nephrotic syndrome 14 (NPHS14) [MIM:617575] 70,873,538(+) A/G coding_sequence_variant, missense_variant
VAR_079214 Nephrotic syndrome 14 (NPHS14) [MIM:617575] p.Arg222Trp
rs1000073729 -- 70,857,438(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SGPL1 Gene

Variant ID Type Subtype PubMed ID
nsv551495 CNV loss 21841781
nsv526539 CNV gain 19592680
nsv517453 CNV gain+loss 19592680
nsv1043245 CNV loss 25217958
esv3623769 CNV loss 21293372
esv3427466 CNV insertion 20981092
esv2665625 CNV deletion 23128226
esv1086437 CNV insertion 17803354

Variation tolerance for SGPL1 Gene

Residual Variation Intolerance Score: 8.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.23; 62.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SGPL1 Gene

Human Gene Mutation Database (HGMD)
SGPL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGPL1 Gene

Disorders for SGPL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SGPL1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SGPL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SGPL1_HUMAN
  • Nephrotic syndrome 14 (NPHS14) [MIM:617575]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS14 is an autosomal recessive syndromic, steroid-resistant form that progresses to end-stage renal failure. Some NPHS14 patients manifest ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. {ECO:0000269 PubMed:28165339, ECO:0000269 PubMed:28165343, ECO:0000269 PubMed:28181337}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SGPL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SGPL1: view

No data available for Genatlas for SGPL1 Gene

Publications for SGPL1 Gene

  1. Sphingosine-1-phosphate lyase potentiates apoptosis via p53- and p38-dependent pathways and is down-regulated in colon cancer. (PMID: 17090686) Oskouian B … Saba JD (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 22 58
  2. Nitroproteins from a human pituitary adenoma tissue discovered with a nitrotyrosine affinity column and tandem mass spectrometry. (PMID: 16777052) Zhan X … Desiderio DM (Analytical biochemistry 2006) 3 4 22 58
  3. Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. (PMID: 28181337) Janecke AR … Müller T (Human mutation 2017) 3 4 58
  4. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. (PMID: 28165339) Lovric S … Hildebrandt F (The Journal of clinical investigation 2017) 3 4 58
  5. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. (PMID: 28165343) Prasad R … Metherell LA (The Journal of clinical investigation 2017) 3 4 58

Products for SGPL1 Gene

Sources for SGPL1 Gene

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