This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in ... See more...

Aliases for CERS1 Gene

Aliases for CERS1 Gene

  • Ceramide Synthase 1 2 3 4 5
  • LAG1 2 3 4
  • UOG1 2 3 4
  • Longevity Assurance (LAG1, S. Cerevisiae) Homolog 1 2 3
  • Longevity Assurance Gene 1 Protein Homolog 1 3 4
  • Protein UOG-1 3 4
  • LASS1 3 4
  • LAG1 Longevity Assurance Homolog 1 (S. Cerevisiae) 2
  • Embryonic Growth/Differentiation Factor 1 3
  • LAG1 Longevity Assurance Homolog 1 4
  • LAG1 Homolog, Ceramide Synthase 1 2
  • Upstream Of GDF1 3
  • EC 2.3.1.- 4
  • GDF-1 3
  • CERS1 5
  • CerS1 4
  • EPM8 3
  • GDF1 3

External Ids for CERS1 Gene

Previous HGNC Symbols for CERS1 Gene

  • LASS1

Previous GeneCards Identifiers for CERS1 Gene

  • GC19M018982

Summaries for CERS1 Gene

Entrez Gene Summary for CERS1 Gene

  • This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]

GeneCards Summary for CERS1 Gene

CERS1 (Ceramide Synthase 1) is a Protein Coding gene. Diseases associated with CERS1 include Epilepsy, Progressive Myoclonic, 8 and Heterotaxy. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include cytokine activity and sphingosine N-acyltransferase activity. An important paralog of this gene is CERS4.

UniProtKB/Swiss-Prot Summary for CERS1 Gene

  • Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA).

Gene Wiki entry for CERS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CERS1 Gene

Genomics for CERS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CERS1 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
GH19J018893 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 250.7 +2.0 1985 3.6 MYC ZNF600 MXD4 REST DEK CTCF MAX SIN3A THAP11 KLF9 GDF1 CERS1 TMEM59L CRTC1 HAPLN4 HOMER3 NCAN SUGP2 KLHL26 SLC25A42
GH19J019366 Enhancer 1.2 ENCODE dbSUPER 10.6 -470.0 -469992 1.2 BCLAF1 ZNF654 NCOR1 ZNF600 IKZF1 SSRP1 ZNF580 ZNF592 ZMYM3 KLF9 NDUFA13 GATAD2A TMEM59L GDF1 CERS1 CRTC1 LPAR2 HSALNG0124719 piR-45035-101 lnc-SUGP1-3
GH19J018995 Enhancer 0.8 Ensembl ENCODE 11.3 -99.1 -99116 1.4 ZNF654 CTCF SIN3A RAD21 SPI1 PKNOX1 ATF4 SP1 CEBPB MNT lnc-HOMER3-3 SUGP2 ARMC6 CERS1 GDF1 HSALNG0124683 HOMER3
GH19J018756 Enhancer 0.8 Ensembl ENCODE dbSUPER 12 +139.8 139837 1.2 ZIC2 CTCF ZNF687 EP300 CERS1 GDF1 COMP lnc-COMP-1 piR-38242 CRTC1
GH19J018998 Enhancer 0.5 Ensembl 11.3 -102.4 -102419 1.2 CTBP1 GLIS1 NCOA3 POLR2A NFXL1 EGR2 ESRRA EP300 ZFHX2 HSALNG0124683 TMEM161A ARMC6 SUGP2 CERS1 GDF1 lnc-HOMER3-3 HOMER3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CERS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CERS1

Genomic Locations for CERS1 Gene

Latest Assembly
chr19:18,868,545-18,896,982
(GRCh38/hg38)
Size:
28,438 bases
Orientation:
Minus strand

Previous Assembly
chr19:18,979,354-19,007,791
(GRCh37/hg19 by Entrez Gene)
Size:
28,438 bases
Orientation:
Minus strand

chr19:18,979,361-19,007,536
(GRCh37/hg19 by Ensembl)
Size:
28,176 bases
Orientation:
Minus strand

Genomic View for CERS1 Gene

Genes around CERS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CERS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CERS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CERS1 Gene

Proteins for CERS1 Gene

  • Protein details for CERS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27544-CERS1_HUMAN
    Recommended name:
    Ceramide synthase 1
    Protein Accession:
    P27544

    Protein attributes for CERS1 Gene

    Size:
    350 amino acids
    Molecular mass:
    39536 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the GDF1 protein from a non-overlapping reading frame.

    Alternative splice isoforms for CERS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CERS1 Gene

Post-translational modifications for CERS1 Gene

  • Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation.
  • Ubiquitination at Lys318
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CERS1 Gene

Domains & Families for CERS1 Gene

Gene Families for CERS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CERS1 Gene

InterPro:
Blocks:
  • Longevity-assurance protein (LAG1)
  • TRAM, LAG1 and CLN8 homology

Suggested Antigen Peptide Sequences for CERS1 Gene

GenScript: Design optimal peptide antigens:
  • Protein UOG-1 (LASS1_HUMAN)
genes like me logo Genes that share domains with CERS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CERS1 Gene

Function for CERS1 Gene

Molecular function for CERS1 Gene

UniProtKB/Swiss-Prot Function:
Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=octadecanoyl-CoA + sphinganine = CoA + H(+) + N-(octadecanoyl)-sphinganine; Xref=Rhea:RHEA:36547, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57817, ChEBI:CHEBI:67033; Evidence={ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:23530041, ECO:0000269|PubMed:26887952};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecasphinganine + octadecanoyl-CoA = CoA + H(+) + N-octadecanoylhexadecasphinganine; Xref=Rhea:RHEA:43044, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:71009, ChEBI:CHEBI:82811; Evidence={ECO:0000269|PubMed:23530041};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-hydroxyoctadecanoyl-CoA + sphinganine = CoA + H(+) + N-(2-hydroxyoctadecanoyl)-sphinganine; Xref=Rhea:RHEA:36615, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:67034, ChEBI:CHEBI:74116; Evidence={ECO:0000250|UniProtKB:P27545};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=octadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N-octadecanoylsphing-4-enine; Xref=Rhea:RHEA:36691, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57756, ChEBI:CHEBI:72961; Evidence={ECO:0000269|PubMed:31916624};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + sphinganine = CoA + H(+) + N-eicosanoylsphinganine; Xref=Rhea:RHEA:36555, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57817, ChEBI:CHEBI:67027; Evidence={ECO:0000250|UniProtKB:P27545};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by fumonisin B1.

Enzyme Numbers (IUBMB) for CERS1 Gene

Phenotypes From GWAS Catalog for CERS1 Gene

Gene Ontology (GO) - Molecular Function for CERS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016410 N-acyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0050291 sphingosine N-acyltransferase activity IDA,ISS --
genes like me logo Genes that share ontologies with CERS1: view
genes like me logo Genes that share phenotypes with CERS1: view

Human Phenotype Ontology for CERS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CERS1 Gene

MGI Knock Outs for CERS1:
  • Cers1 Cers1<tm1.1Kwi>
  • Cers1 Cers1<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS1

No data available for Transcription Factor Targets and HOMER Transcription for CERS1 Gene

Localization for CERS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERS1 Gene

Endoplasmic reticulum membrane. Multi-pass 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 CERS1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
mitochondrion 2
nucleus 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CERS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IDA 17699106
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,TAS 12869556
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle ISS --
genes like me logo Genes that share ontologies with CERS1: view

Pathways & Interactions for CERS1 Gene

genes like me logo Genes that share pathways with CERS1: view

Pathways by source for CERS1 Gene

UniProtKB/Swiss-Prot P27544-CERS1_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Interacting Proteins for CERS1 Gene

Gene Ontology (GO) - Biological Process for CERS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0035690 cellular response to drug IDA 19800881
GO:0036146 cellular response to mycotoxin IDA 12105227
genes like me logo Genes that share ontologies with CERS1: view

No data available for SIGNOR curated interactions for CERS1 Gene

Drugs & Compounds for CERS1 Gene

(5) Drugs for CERS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ceramide NG Experimental Pharma 0
Sphingosine Experimental Pharma 0
Coenzyme A Investigational Nutra 0
sphinganine Pharma 0

(104) Additional Compounds for CERS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydroceramide
  • N-Acylsphinganine
  • N-[(2S,3R)-1,3-Dihydroxyoctadecan-2-yl]formamide
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
244215-65-4
genes like me logo Genes that share compounds with CERS1: view

Transcripts for CERS1 Gene

mRNA/cDNA for CERS1 Gene

10 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS1

Alternative Splicing Database (ASD) splice patterns (SP) for CERS1 Gene

No ASD Table

Relevant External Links for CERS1 Gene

GeneLoc Exon Structure for
CERS1

Expression for CERS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CERS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CERS1 Gene

This gene is overexpressed in Testis (x8.5), Brain - Cortex (x5.2), Brain - Frontal Cortex (BA9) (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for CERS1 Gene

This gene is overexpressed in Frontal cortex (20.8), Spinal cord (19.0), Fetal Brain (16.8), and Testis (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CERS1 Gene



Protein tissue co-expression partners for CERS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CERS1

SOURCE GeneReport for Unigene cluster for CERS1 Gene:

Hs.412355

Evidence on tissue expression from TISSUES for CERS1 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CERS1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with CERS1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for CERS1 Gene

Orthologs for CERS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CERS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LASS1 29
  • 98.08 (n)
CERS1 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CERS1 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CERS1 29
  • 88.46 (n)
LASS1 30
  • 75 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cers1 29
  • 80.81 (n)
Mouse
(Mus musculus)
Mammalia Cers1 29 16 30
  • 80.71 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CERS1 30
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CERS1 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CERS1 29 30
  • 75.27 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cers1 29
  • 61.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii cers1 29 30
  • 63.19 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea lagr-1 29 30
  • 45.96 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 41 (a)
OneToMany
-- 30
  • 40 (a)
OneToMany
Species where no ortholog for CERS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CERS1 Gene

ENSEMBL:
Gene Tree for CERS1 (if available)
TreeFam:
Gene Tree for CERS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CERS1: view image
Alliance of Genome Resources:
Additional Orthologs for CERS1

Paralogs for CERS1 Gene

Paralogs for CERS1 Gene

(1) SIMAP similar genes for CERS1 Gene using alignment to 2 proteins:

  • CERS1_HUMAN
  • M0R0T2_HUMAN
genes like me logo Genes that share paralogs with CERS1: view

Variants for CERS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CERS1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1000785 Uncertain Significance: Epilepsy, progressive myoclonic 8 18,895,986(-) G/C
NM_021267.5(CERS1):c.87C>G (p.Ser29Arg)
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
1001308 Uncertain Significance: Epilepsy, progressive myoclonic 8 18,868,886(-) C/T
NM_021267.5(CERS1):c.*1099G>A
MISSENSE_VARIANT,THREE_PRIME_UTR
1007022 Uncertain Significance: Epilepsy, progressive myoclonic 8 18,868,614(-) C/T
NM_021267.5(CERS1):c.*1371G>A
MISSENSE_VARIANT,THREE_PRIME_UTR
1009837 Uncertain Significance: Epilepsy, progressive myoclonic 8 18,880,325(-) C/A
NM_021267.5(CERS1):c.701G>T (p.Arg234Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1010796 Uncertain Significance: Transposition of the great arteries, dextro-looped 3; Epilepsy, progressive myoclonic 8 18,869,067(-) G/C
NM_001492.6(GDF1):c.649C>G (p.Leu217Val)
MISSENSE_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CERS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CERS1 Gene

Variant ID Type Subtype PubMed ID
esv28733 CNV loss 19812545
nsv1143912 CNV deletion 24896259
nsv1151217 CNV deletion 26484159
nsv470132 CNV loss 18288195
nsv828473 CNV gain 20364138
nsv833777 CNV loss 17160897
nsv952423 CNV deletion 24416366

Variation tolerance for CERS1 Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CERS1 Gene

Human Gene Mutation Database (HGMD)
CERS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CERS1
Leiden Open Variation Database (LOVD)
CERS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CERS1 Gene

Disorders for CERS1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for CERS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CERS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CERS1_HUMAN
  • Epilepsy, progressive myoclonic 8 (EPM8) [MIM:616230]: A severe form of progressive myoclonic epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment. {ECO:0000269 PubMed:24782409}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CERS1

genes like me logo Genes that share disorders with CERS1: view

No data available for Genatlas for CERS1 Gene

Publications for CERS1 Gene

  1. Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. (PMID: 24782409) Vanni N … Zara F (Annals of neurology 2014) 3 4 72
  2. Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human. (PMID: 9872981) Jiang JC … Jazwinski SM (Genome research 1998) 2 3 4
  3. Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure. (PMID: 2034669) Lee SJ (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4

Products for CERS1 Gene

Sources for CERS1 Gene