Aliases for SGPL1 Gene

Aliases for SGPL1 Gene

  • Sphingosine-1-Phosphate Lyase 1 2 3 4 5
  • Sphingosine-1-Phosphate Aldolase 3 4
  • SP-Lyase 1 3 4
  • SPL 1 3 4
  • S1PL 3 4
  • HSPL 3 4
  • SPL 2 3
  • EC 4.1.2.27 4
  • KIAA1252 4
  • NPHS14 3
  • SGPL1 5

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, Type 14 and Charcot-Marie-Tooth Disease. Among its related pathways are Sphingolipid signaling pathway and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and sphinganine-1-phosphate aldolase activity. An important paralog of this gene is GAD2.

UniProtKB/Swiss-Prot Summary 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 (PubMed:11018465, PubMed:14570870, PubMed:24809814, PubMed:28165339). Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal contact sites and axonal maintenance (By similarity).

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 , Rfam classification and piRNA Summary for SGPL1 Gene

Genomics for SGPL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH10J070815 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 621.1 +0.6 603 2.6 CTCF HNRNPL PRDM10 ZNF629 LEF1 IKZF1 ZNF692 POLR2A BACH1 TARDBP SGPL1 RF00017-689 NONHSAG006143.2 lnc-ADAMTS14-1 PCBD1
GH10J070826 Enhancer 1.2 FANTOM5 Ensembl ENCODE 30.9 +15.3 15258 11.2 REST ZNF512 IKZF1 RCOR2 FOXA1 PRDM1 SP1 HDAC1 SOX13 TCF7 SGPL1 PCBD1 lnc-ADAMTS14-1 piR-31470-053
GH10J070851 Enhancer 0.9 Ensembl ENCODE 39.4 +36.0 36027 1.2 GATAD2A SOX13 RCOR2 RXRB SP1 CEBPA TCF7 YY1 GABPA ZBTB33 SGPL1 PCBD1 piR-31470-053 lnc-ADAMTS14-1
GH10J070887 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.9 +72.4 72431 2.4 HNRNPL GATAD2A PRDM10 ZNF629 REST ZNF692 LARP7 MTA2 PHF21A ZIC2 PCBD1 lnc-TBATA-2 SGPL1 piR-40879
GH10J070843 Enhancer 0.8 Ensembl ENCODE 39.5 +29.0 29022 2.9 JUND FOXA1 HMBOX1 FOXA2 NCOR1 FOSL1 TAL1 NR2F6 DPF2 PRDM6 SGPL1 TYSND1 PCBD1 piR-31470-053 lnc-ADAMTS14-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SGPL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SGPL1

Top Transcription factor binding sites by QIAGEN in the SGPL1 gene promoter:
  • aMEF-2
  • Egr-1
  • GATA-1
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • RelA
  • TBP

Genomic Locations for SGPL1 Gene

Genomic Locations for SGPL1 Gene
chr10:70,815,920-70,881,184
(GRCh38/hg38)
Size:
65,265 bases
Orientation:
Plus strand
chr10:72,575,704-72,640,946
(GRCh37/hg19)
Size:
65,243 bases
Orientation:
Plus strand

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; Note=Extended N-terminus.; 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 Lys114, Lys131, and Lys263
  • Modification sites at PhosphoSitePlus

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):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SGPL1 Gene

GenScript: Design optimal peptide antigens:
  • Sphingosine-1-phosphate aldolase (SGPL1_HUMAN)

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

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 (PubMed:11018465, PubMed:14570870, PubMed:24809814, PubMed:28165339). Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal contact sites and axonal maintenance (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=sphinganine 1-phosphate = hexadecanal + phosphoethanolamine; Xref=Rhea:RHEA:18593, ChEBI:CHEBI:17600, ChEBI:CHEBI:57939, ChEBI:CHEBI:58190; EC=4.1.2.27; Evidence={ECO:0000269|PubMed:11018465, ECO:0000269|PubMed:22784711, ECO:0000269|PubMed:24809814, ECO:0000269|PubMed:28165339};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=sphing-4-enine 1-phosphate = (2E)-hexadecenal + phosphoethanolamine; Xref=Rhea:RHEA:33507, ChEBI:CHEBI:17585, ChEBI:CHEBI:58190, ChEBI:CHEBI:60119; EC=4.1.2.27; Evidence={ECO:0000269|PubMed:22784711};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5.2 uM for sphingosine 1-phosphate {ECO:0000269|PubMed:24809814};
GENATLAS Biochemistry:
sphingosine-1-phosphate lyase 1,pyridoxal dependent,involved in the proliferative signal transduction pathways

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

Human Phenotype Ontology for SGPL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SGPL1 Gene

MGI Knock Outs for SGPL1:
  • Sgpl1 Sgpl1<tm1.2Npa>
  • Sgpl1 Sgpl1<tm1a(KOMP)Saba>
  • Sgpl1 Sgpl1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for SGPL1 Gene

miRTarBase miRNAs that target SGPL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGPL1

No data available for 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. Cytoplasmic side.

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 3
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 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 IBA,IDA 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:0001667 ameboidal-type cell migration IBA 21873635
GO:0001822 kidney development IEA --
GO:0006629 lipid metabolic process IEA --
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 16
Hexadecanal Experimental Pharma 0
Phosphorylcolamine Experimental Pharma 0
Sphingosine-1-phosphate Pharma Agonist, Full agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cer(d18:0/12:0)
  • C12:0 DHCer
  • N-(Dodecanoyl)-sphinganine
  • N-Dodecanoyldihydrosphingosine
  • N-Lauroyldihydrosphingosine
  • N-Lauroylsphinganine
Cer(d18:0/14:0)
  • C14DH Cer
  • DHC-a 18:0/14:0
  • N-(Myristoyl)-dihydroceramide
  • N-(Tetradecanoyl)-dihydroceramide
  • N-(Tetradecanoyl)-sphinganine
Cer(d18:0/16:0)
  • C16DH Cer
  • DHC-a 18:0/16:0
  • N-(Hexadecanoyl)-dihydroceramide
  • N-(Hexadecanoyl)-sphinganine
  • N-(Palmitoyl)-dihydroceramide
Cer(d18:0/18:0)
  • C18DH Cer
  • DHC-a 18:0/18:0
  • N-(Octadecanoyl)-dihydroceramide
  • N-(Octadecanoyl)-sphinganine
  • N-(Octodecanoyl)-sphinganine
Cer(d18:0/18:1(11Z))
  • Ceramide
  • N-(11Z-Octadecenoyl)-sphinganine
  • Ceramide(D18:0/18:1(11Z))
  • N-(11Z-Octadecenoyl)-dihydrosphingosine
  • N-(11Z-Octadecenoyl)-D-erythro-sphinganine
genes like me logo Genes that share compounds with SGPL1: view

Transcripts for SGPL1 Gene

mRNA/cDNA for SGPL1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGPL1

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

Expression for SGPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SGPL1 Gene



Protein tissue co-expression partners for SGPL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Skin(4.5)
  • Spleen(3)
  • Liver(2.8)
  • Intestine(2.6)
  • Blood(2.6)
  • Lymph node(2.5)
  • Kidney(2.5)
  • Lung(2.5)
  • Heart(2.4)
  • Stomach(2.2)
  • Muscle(2.2)
  • Adrenal gland(2.1)
  • Pancreas(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 30 31
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SGPL1 30 31
  • 89.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SGPL1 30 31
  • 87.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sgpl1 30
  • 85.27 (n)
Mouse
(Mus musculus)
Mammalia Sgpl1 30 17 31
  • 84.8 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SGPL1 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SGPL1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SGPL1 30
  • 67.98 (n)
Lizard
(Anolis carolinensis)
Reptilia SGPL1 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sgpl1 30
  • 67.22 (n)
Str.10102 30
Zebrafish
(Danio rerio)
Actinopterygii sgpl1 30 31
  • 65.95 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Sply 30 31 32
  • 55.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001724 30
  • 54.93 (n)
Worm
(Caenorhabditis elegans)
Secernentea tag-38 30 31
  • 49.31 (n)
OneToMany
Y66H1B.4 32
  • 43 (a)
spl-1 31
  • 42 (a)
OneToMany
B0222.4 32
  • 38 (a)
Y104H12D.3 31 32
  • 31 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPL1 30 31 33 33
  • 52.6 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10505g 30
  • 50.6 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DPL1 30
  • 50.55 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0100900 30
  • 49.11 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06761 30
  • 51.96 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9336 31
  • 51 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13999 30
Species where no ortholog for SGPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for SGPL1: view image

Paralogs for SGPL1 Gene

Paralogs for SGPL1 Gene

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

Variants for SGPL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SGPL1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
715776 Benign: not provided 70,877,321(+) C/T MISSENSE_VARIANT
745725 Likely Benign: not provided 70,873,440(+) G/A SYNONYMOUS_VARIANT
781213 Likely Benign: not provided 70,876,569(+) G/A MISSENSE_VARIANT
851782 Uncertain Significance: not provided 70,873,477(+) C/T MISSENSE_VARIANT
851784 Uncertain Significance: not provided 70,873,538(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SGPL1 Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

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: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 14
  • nphs14
charcot-marie-tooth disease
  • peroneal muscular atrophy
nephrotic syndrome
  • finnish congenital nephrotic syndrome
ichthyosis
  • ichthyoses
- 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, ECO:0000269 PubMed:30090628}. 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
Open Targets Platform
genes like me logo Genes that share disorders with SGPL1: view

No data available for Genatlas for SGPL1 Gene

Publications for SGPL1 Gene

  1. 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 23
  2. 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 23
  3. SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. (PMID: 30517686) Settas N … Stratakis CA (The Journal of clinical endocrinology and metabolism 2019) 3 4
  4. 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
  5. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. (PMID: 28077491) Atkinson D … Jordanova A (Neurology 2017) 3 4

Products for SGPL1 Gene

  • Signalway ELISA kits for SGPL1
  • Signalway Proteins for SGPL1

Sources for SGPL1 Gene