Free for academic non-profit institutions. Other users need a Commercial license

CERS3 Gene(Protein Coding)

Ceramide Synthase 3

GCID:
GC15M100427
GIFtS:
53
Genes Participants
UDN Logo

Aliases for CERS3 Gene

Aliases for CERS3 Gene

  • Ceramide Synthase 3 2 3 5
  • LAG1 Longevity Assurance Homolog 3 3 4
  • LAG1 Homolog, Ceramide Synthase 3 2 3
  • Dihydroceramide Synthase 3 3 4
  • LASS3 3 4
  • LAG1 Longevity Assurance Homolog 3 (S. Cerevisiae) 2
  • EC 2.3.1.24 4
  • ARCI9 3
  • CerS3 4

External Ids for CERS3 Gene

Previous HGNC Symbols for CERS3 Gene

  • LASS3

Previous GeneCards Identifiers for CERS3 Gene

  • GC15M100941

Summaries for CERS3 Gene

Entrez Gene Summary for CERS3 Gene

  • This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

GeneCards Summary for CERS3 Gene

CERS3 (Ceramide Synthase 3) is a Protein Coding gene. Diseases associated with CERS3 include Ichthyosis, Congenital, Autosomal Recessive 9 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Sphingolipid metabolism and Sphingolipid signaling pathway. GO annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is CERS2.

UniProtKB/Swiss-Prot for CERS3 Gene

  • Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CERS3 Gene

Genomics for CERS3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CERS3 Gene

Enhancers for CERS3 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
GH15G100516 1 Ensembl ENCODE 16.3 +27.5 27537 1.5 ELF3 CTCF SOX13 SIN3A MAX CEBPG ZIC2 RAD21 YY1 GATA3 CERS3 CERS3-AS1
GH15G100569 0.8 dbSUPER 17.5 -26.8 -26846 5.6 BCOR CTCF USF1 ZMYM3 CEBPG ZIC2 RAD21 RFX5 GATA3 GLIS2 ENSG00000270127 LINS1 CERS3 PRKXP1 ASB7 PIR58933
GH15G100570 0.7 dbSUPER 13.1 -26.5 -26509 3.0 CTCF USF1 ZMYM3 ZIC2 RAD21 RFX5 GLIS2 ARID3A POLR2A NFYB ENSG00000270127 LINS1 CERS3 PRKXP1 ASB7 PIR58933
GH15G100438 0.8 Ensembl ENCODE 10.5 +106.3 106272 0.2 NFIC ZBTB48 NFIB ZSCAN5C SCRT2 FOXP2 CERS3 CERS3-AS1
GH15G100520 0.5 Ensembl 11.9 +24.3 24295 1.4 CBX8 MAX REST MYC CERS3 CERS3-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CERS3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CERS3 Gene

Chromosome:
15
Start:
100,400,395 bp from pter
End:
100,544,995 bp from pter
Size:
144,601 bases
Orientation:
Minus strand

Genomic View for CERS3 Gene

Genes around CERS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CERS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CERS3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CERS3 Gene

Proteins for CERS3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CERS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IU89-CERS3_HUMAN
    Recommended name:
    Ceramide synthase 3
    Protein Accession:
    Q8IU89
    Secondary Accessions:
    • Q8NE64
    • Q8NEN6

    Protein attributes for CERS3 Gene

    Size:
    383 amino acids
    Molecular mass:
    46316 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CERS3 Gene

Protein Expression for CERS3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CERS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CERS3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CERS3 Gene

Domains & Families for CERS3 Gene

Gene Families for CERS3 Gene

HGNC:

Protein Domains for CERS3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CERS3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CERS3: view

No data available for UniProtKB/Swiss-Prot for CERS3 Gene

Function for CERS3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CERS3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + sphingosine = CoA + N-acylsphingosine.
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + dihydrosphingosine = CoA + N-acyldihydrosphingosine.
UniProtKB/Swiss-Prot Function:
Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation.

Enzyme Numbers (IUBMB) for CERS3 Gene

Gene Ontology (GO) - Molecular Function for CERS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0016740 transferase activity IEA --
GO:0050291 sphingosine N-acyltransferase activity TAS --
genes like me logo Genes that share ontologies with CERS3: view
genes like me logo Genes that share phenotypes with CERS3: view

Human Phenotype Ontology for CERS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CERS3 Gene

MGI Knock Outs for CERS3:

Animal Model Products

CRISPR Products

miRNA for CERS3 Gene

miRTarBase miRNAs that target CERS3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CERS3 Gene

Localization for CERS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERS3 Gene

Nucleus 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 CERS3 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
cytosol 3
plasma membrane 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CERS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IBA,IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CERS3: view

Pathways & Interactions for CERS3 Gene

genes like me logo Genes that share pathways with CERS3: view

Pathways by source for CERS3 Gene

1 BioSystems pathway for CERS3 Gene

Gene Ontology (GO) - Biological Process for CERS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0030216 keratinocyte differentiation IMP 23754960
GO:0046513 ceramide biosynthetic process IMP 23754960
genes like me logo Genes that share ontologies with CERS3: view

No data available for SIGNOR curated interactions for CERS3 Gene

Drugs & Compounds for CERS3 Gene

Products:

  1. Drug

(3) Drugs for CERS3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Coenzyme A Nutra 0
genes like me logo Genes that share compounds with CERS3: view

Transcripts for CERS3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CERS3 Gene

(10) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(33) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CERS3 Gene

Ceramide synthase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CERS3 Gene

No ASD Table

Relevant External Links for CERS3 Gene

GeneLoc Exon Structure for
CERS3
ECgene alternative splicing isoforms for
CERS3

Expression for CERS3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CERS3 Gene

mRNA expression in normal human tissues for CERS3 Gene
mRNA expression by BioGPS for CERS3 GenemRNA expression by GTEx for CERS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CERS3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x13.2), Skin - Not Sun Exposed (Suprapubic) (x12.3), Esophagus - Mucosa (x11.9), and Vagina (x5.4).

Protein differential expression in normal tissues from HIPED for CERS3 Gene

This gene is overexpressed in Cervix (64.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CERS3 Gene



Protein tissue co-expression partners for CERS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CERS3 Gene:

CERS3

SOURCE GeneReport for Unigene cluster for CERS3 Gene:

Hs.662371

mRNA Expression by UniProt/SwissProt for CERS3 Gene:

Q8IU89-CERS3_HUMAN
Tissue specificity: Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level).

Evidence on tissue expression from TISSUES for CERS3 Gene

  • Skin(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CERS3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
Pelvis:
  • penis
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with CERS3: view

Primer Products

Orthologs for CERS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CERS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LASS3 34
  • 99.65 (n)
CERS3 35
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia CERS3 34 35
  • 89.38 (n)
cow
(Bos Taurus)
 Mammalia CERS3 34
  • 87.38 (n)
LASS3 35
  • 82 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cers3 34 16 35
  • 83.07 (n)
rat
(Rattus norvegicus)
 Mammalia Cers3 34
  • 82.29 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CERS3 35
  • 79 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CERS3 35
  • 75 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CERS3 34 35
  • 66.22 (n)
lizard
(Anolis carolinensis)
 Reptilia CERS3 35
  • 57 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cers3 34
  • 60.11 (n)
zebrafish
(Danio rerio)
 Actinopterygii CABZ01067609.1 35
  • 52 (a)
 OneToMany
cers3b 35
  • 51 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta schlank 35
  • 35 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea hyl-2 35
  • 28 (a)
 ManyToMany
hyl-1 35
  • 27 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 39 (a)
 ManyToMany
-- 35
  • 39 (a)
 ManyToMany
-- 35
  • 35 (a)
 ManyToMany
-- 35
  • 34 (a)
 ManyToMany
Species where no ortholog for CERS3 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 CERS3 Gene

ENSEMBL:
Gene Tree for CERS3 (if available)
TreeFam:
Gene Tree for CERS3 (if available)

Paralogs for CERS3 Gene

Paralogs for CERS3 Gene

(5) SIMAP similar genes for CERS3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CERS3: view

Variants for CERS3 Gene

Sequence variations from dbSNP and Humsavar for CERS3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs587776996 Pathogenic 100,476,085(+) ACTTA(A/C)CTTTC splice-donor-variant
rs762679102 Pathogenic 100,501,807(+) AAGCC(A/G/T)GAATC reference, missense
rs193921020 Uncertain significance 100,476,079(-) TAAGT(G/T)TCTTA intron-variant
rs1000064427 -- 100,485,649(+) GAAGG(C/T)GGTCA intron-variant
rs1000100000 -- 100,485,426(+) GAAAC(A/G)TAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CERS3 Gene

Variant ID Type Subtype PubMed ID
esv1058598 CNV deletion 17803354
esv1555633 CNV deletion 17803354
esv1759060 CNV deletion 17803354
esv1944504 CNV deletion 18987734
esv2145822 CNV deletion 18987734
esv2581646 CNV deletion 19546169
esv2674387 CNV deletion 23128226
esv2750135 CNV deletion 23290073
esv3210457 CNV deletion 24192839
esv3492 CNV loss 18987735
esv3552941 CNV deletion 23714750
esv3569898 CNV gain 25503493
esv3581861 CNV loss 25503493
esv3581862 CNV loss 25503493
esv3637473 CNV gain 21293372
esv3637474 CNV gain 21293372
esv3637478 CNV gain 21293372
esv3637479 CNV loss 21293372
esv3637480 CNV gain 21293372
esv3892745 CNV gain 25118596
esv6913 CNV loss 19470904
esv990393 CNV deletion 20482838
nsv1035183 CNV gain 25217958
nsv1036363 CNV loss 25217958
nsv1041172 CNV gain 25217958
nsv1045838 CNV gain 25217958
nsv1115984 CNV insertion 24896259
nsv1120104 OTHER inversion 24896259
nsv1153554 CNV insertion 26484159
nsv1690 CNV deletion 18451855
nsv457284 CNV gain 19166990
nsv457287 CNV gain 19166990
nsv471265 CNV gain 18288195
nsv478570 CNV novel sequence insertion 20440878
nsv512415 CNV loss 21212237
nsv523179 CNV loss 19592680
nsv523884 CNV loss 19592680
nsv570779 CNV gain 21841781
nsv570781 CNV gain 21841781
nsv833107 CNV gain 17160897
nsv94807 CNV deletion 16902084
nsv958002 CNV deletion 24416366

Variation tolerance for CERS3 Gene

Residual Variation Intolerance Score: 73.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CERS3 Gene

Human Gene Mutation Database (HGMD)
CERS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CERS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CERS3 Gene

Disorders for CERS3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CERS3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis, congenital, autosomal recessive 9
  • autosomal recessive congenital ichthyosis 9
autosomal recessive congenital ichthyosis
  • arci
weill-marchesani-like syndrome
  • ichthyosis-short stature-brachydactyly-microspherophakia syndrome
congenital ichthyosiform erythroderma
  • alligator skin
- elite association - COSMIC cancer census association via MalaCards
Search CERS3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CERS3_HUMAN
  • Ichthyosis, congenital, autosomal recessive 9 (ARCI9) [MIM:615023]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:23754960}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CERS3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CERS3
genes like me logo Genes that share disorders with CERS3: view

No data available for Genatlas for CERS3 Gene

Publications for CERS3 Gene

  1. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (PMID: 23754960) Radner F.P. … Fischer J. (PLoS Genet. 2013) 3 4 64
  2. 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
  3. Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region. (PMID: 26887952) Sassa T. … Kihara A. (J. Biol. Chem. 2016) 3 64
  4. Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors. (PMID: 26045466) Rabionet M. … Sandhoff R. (Hum. Mol. Genet. 2015) 3 64
  5. The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations. (PMID: 25293881) Patel Y.M. … Murphy S.E. (Cancer Epidemiol. Biomarkers Prev. 2015) 3 64

Products for CERS3 Gene

Sources for CERS3 Gene

Content
Loading form....