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Aliases for CERS1 Gene

Aliases for CERS1 Gene

  • Ceramide Synthase 1 2 3 5
  • 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 3 4
  • UOG1 3 4
  • LAG1 Longevity Assurance Homolog 1 (S. Cerevisiae) 2
  • LAG1 Longevity Assurance Homolog 1 4
  • LAG1 Homolog, Ceramide Synthase 1 2
  • Upstream Of GDF1 3
  • CerS1 4
  • EPM8 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 Myoclonus. Among its related pathways are Sphingolipid metabolism and Sphingolipid signaling pathway. GO annotations related to this gene include cytokine activity and sphingosine N-acyltransferase activity. An important paralog of this gene is GDF1.

UniProtKB/Swiss-Prot for CERS1 Gene

  • May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donor (N-linked stearoyl- (C18) ceramide) in a fumonisin B1-independent manner (By similarity).

Gene Wiki entry for CERS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CERS1 Gene

Genomics for CERS1 Gene

Regulatory Elements for CERS1 Gene

Enhancers for CERS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G018756 0.8 ENCODE dbSUPER 12 +139.6 139582 1.2 CTCF GATA3 ZNF687 POLR2A ZIC2 KDM6A CERS1 GDF1 COMP GC19P019540 PIR61287
GH19G018995 0.7 ENCODE 11.3 -99.3 -99272 1.2 HDGF CTCF PKNOX1 AGO1 ZMYM3 SIN3A RAD21 ZNF121 ZFHX2 POLR2A SUGP2 ARMC6 GDF1 CERS1 GC19M018978
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CERS1 on UCSC Golden Path with GeneCards custom track

Promoters for CERS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108167 927 1201 HDAC1 ZSCAN4 ARID4B SIN3A ZNF48 RAD21 GLIS2 EGR1 ZNF143 DEK

Genomic Location for CERS1 Gene

Chromosome:
19
Start:
18,868,545 bp from pter
End:
18,896,727 bp from pter
Size:
28,183 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

  • Ubiquitination at posLast=318318
  • Modification sites at PhosphoSitePlus

Other Protein References for CERS1 Gene

No data available for DME Specific Peptides for CERS1 Gene

Domains & Families for CERS1 Gene

Gene Families for CERS1 Gene

Protein Domains for CERS1 Gene

Suggested Antigen Peptide Sequences for CERS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for CERS1 Gene

Function for CERS1 Gene

Molecular function for CERS1 Gene

UniProtKB/Swiss-Prot Function:
May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donor (N-linked stearoyl- (C18) ceramide) in a fumonisin B1-independent manner (By similarity).

Gene Ontology (GO) - Molecular Function for CERS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008083 growth factor activity IEA --
GO:0050291 sphingosine N-acyltransferase activity TAS --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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.
Isoform 1: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Isoform 1 may recycle from the Golgi to the endoplasmic reticulum.

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
endoplasmic reticulum 5
golgi apparatus 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CERS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 17699106
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
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

Interacting Proteins for CERS1 Gene

Selected Interacting proteins: P27544-CERS1_HUMAN for CERS1 Gene via IID MINT

Gene Ontology (GO) - Biological Process for CERS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid 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
GO:0046513 ceramide biosynthetic process IDA,ISS --
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

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

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

(81) 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
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with CERS1: view

Transcripts for CERS1 Gene

Unigene Clusters for CERS1 Gene

Ceramide synthase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for CERS1 Gene

GeneLoc Exon Structure for
CERS1
ECgene alternative splicing isoforms for
CERS1

Expression for CERS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of CERS1 Gene:

CERS1

SOURCE GeneReport for Unigene cluster for CERS1 Gene:

Hs.412355

Evidence on tissue expression from TISSUES for CERS1 Gene

  • Nervous system(4.8)

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

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

Primer Products

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 34
  • 98.08 (n)
CERS1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CERS1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CERS1 34
  • 88.46 (n)
LASS1 35
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cers1 34
  • 80.81 (n)
mouse
(Mus musculus)
Mammalia Cers1 34 16 35
  • 80.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CERS1 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CERS1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CERS1 34 35
  • 75.27 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cers1 34
  • 61.56 (n)
zebrafish
(Danio rerio)
Actinopterygii cers1 34 35
  • 63.19 (n)
worm
(Caenorhabditis elegans)
Secernentea lagr-1 34 35
  • 45.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
Species where no ortholog for CERS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CERS1 Gene

Paralogs for CERS1 Gene

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

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

Variants for CERS1 Gene

Sequence variations from dbSNP and Humsavar for CERS1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs200024180 Pathogenic, Epilepsy, progressive myoclonic 8 (EPM8) [MIM:616230] 18,884,128(+) ACCAC(A/C/G)TGGTG reference, synonymous-codon, utr-variant-5-prime
rs121434422 Pathogenic 18,869,035(-) GCCTG(A/C)GCGCG reference, utr-variant-3-prime, stop-gained
rs121434423 Pathogenic 18,868,916(-) CGCTT(A/G)TCGCG reference, missense, utr-variant-3-prime
rs121434424 Pathogenic 18,869,231(-) GGGCG(A/G)CTGGG reference, missense, utr-variant-3-prime
rs606231383 Pathogenic 18,868,806(-) TGCCC(-/C)GTCGC reference, utr-variant-3-prime, frameshift-variant

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)

Relevant External Links for CERS1 Gene

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

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

Disorders for CERS1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CERS1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic, 8
  • progressive myoclonic epilepsy type 8
myoclonus
myoclonus epilepsy
  • epilepsies, myoclonic
ceroid lipofuscinosis, neuronal, 9
  • neuronal ceroid lipofuscinosis 9
epilepsy
  • epilepsy syndrome
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for CERS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human. (PMID: 9872981) Jiang J.C. … Jazwinski S.M. (Genome Res. 1998) 2 3 4 64
  2. Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure. (PMID: 2034669) Lee S.-J. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 64
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide synthesis in yeast. (PMID: 12869556) Guillas I. … Conzelmann A. (J. Biol. Chem. 2003) 3 22 64

Products for CERS1 Gene

Sources for CERS1 Gene

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