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Aliases for CERS3 Gene

Aliases for CERS3 Gene

  • Ceramide Synthase 3 2 3
  • LASS3 3 4 6
  • LAG1 Longevity Assurance Homolog 3 3 4
  • LAG1 Homolog, Ceramide Synthase 3 2 3
  • Dihydroceramide Synthase 3 3 4
  • ARCI9 3 6
  • LAG1 Longevity Assurance Homolog 3 (S. Cerevisiae) 2
  • EC 2.3.1.24 4
  • CerS3 4

External Ids for CERS3 Gene

Previous Symbols for CERS3 Gene

  • LASS3

Summaries for CERS3 Gene

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 congenital ichthyosiform erythroderma. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sphingosine N-acyltransferase activity. An important paralog of this gene is CERS5.

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 Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CERS3 Gene

Genomics for CERS3 Gene

Genomic Location for CERS3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CERS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CERS3 Gene

No data available for Regulatory Elements for CERS3 Gene

Proteins for CERS3 Gene

  • 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

Proteomics data for CERS3 Gene at MOPED

Post-translational modifications for CERS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CERS3 Gene

No data available for DME Specific Peptides for CERS3 Gene

Domains for CERS3 Gene

Gene Families for CERS3 Gene

HGNC:
  • CERS :Homeoboxes / CERS class

UniProtKB/Swiss-Prot:

CERS3_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q8IU89
  • Contains 1 TLC (TRAM/LAG1/CLN8) domain.:
    • Q8IU89
genes like me logo Genes that share domains with CERS3: view

Function for CERS3 Gene

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:0050291 sphingosine N-acyltransferase activity IBA --
genes like me logo Genes that share ontologies with CERS3: view
genes like me logo Genes that share phenotypes with CERS3: view

Animal Models for CERS3 Gene

MGI Knock Outs for CERS3:

No data available for miRNA , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for CERS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005783 endoplasmic reticulum IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with CERS3: view

Pathways for CERS3 Gene

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

Pathways by source for CERS3 Gene

Interacting Proteins for CERS3 Gene

Gene Ontology (GO) - Biological Process for CERS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0030216 keratinocyte differentiation IMP 23754960
GO:0044281 small molecule metabolic process TAS --
GO:0046513 ceramide biosynthetic process IMP 23754960
genes like me logo Genes that share ontologies with CERS3: view

Transcripts for CERS3 Gene

Unigene Clusters for CERS3 Gene

Ceramide synthase 3:
Representative Sequences:

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

mRNA expression in normal human tissues 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) (13.2), Skin - Not Sun Exposed (Suprapubic) (12.3), Esophagus - Mucosa (11.9), and Vagina (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CERS3 Gene

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).
genes like me logo Genes that share expressions with CERS3: view

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 CERS3 37
  • 96 (a)
OneToOne
LASS3 36
  • 99.65 (n)
  • 99.22 (a)
cow
(Bos Taurus)
Mammalia CERS3 36
  • 87.38 (n)
  • 82.51 (a)
LASS3 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CERS3 36
  • 89.38 (n)
  • 88.25 (a)
CERS3 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cers3 36
  • 83.07 (n)
  • 78.53 (a)
Cers3 16
Cers3 37
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CERS3 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CERS3 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cers3 36
  • 82.29 (n)
  • 77.49 (a)
chicken
(Gallus gallus)
Aves CERS3 36
  • 66.22 (n)
  • 59.68 (a)
CERS3 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CERS3 37
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cers3 36
  • 60.11 (n)
  • 52.29 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01067609.1 37
  • 52 (a)
OneToMany
cers3b 37
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta schlank 37
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hyl-1 37
  • 27 (a)
ManyToMany
hyl-2 37
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
ManyToMany
-- 37
  • 39 (a)
ManyToMany
-- 37
  • 39 (a)
ManyToMany
-- 37
  • 34 (a)
ManyToMany
Species with no ortholog for CERS3:
  • 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

Selected 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 MAF
rs878695 -- 100,517,920(-) TATTG(C/G)TCTAA intron-variant
rs878696 -- 100,517,845(-) GCACT(C/T)CTGCA intron-variant
rs878697 -- 100,517,788(-) CCCTC(C/G)TCCAA intron-variant
rs905543 -- 100,517,681(-) CATAA(C/G)AAACA intron-variant
rs905544 -- 100,517,211(-) CATGA(C/T)GTACT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2446n71 CNV Gain 21882294
dgv2447n71 CNV Gain 21882294
nsv457284 CNV Gain 19166990
nsv471265 CNV Gain 18288195
nsv457287 CNV Gain 19166990
nsv904583 CNV Gain 21882294
nsv523179 CNV Loss 19592680
nsv833107 CNV Gain 17160897
esv1944504 CNV Deletion 18987734
nsv904584 CNV Gain 21882294
nsv904585 CNV Gain 21882294
esv2674387 CNV Deletion 23128226
nsv512415 CNV Loss 21212237
esv2581646 CNV Deletion 19546169
esv2145822 CNV Deletion 18987734
esv3492 CNV Deletion 18987735
esv990393 CNV Deletion 20482838
esv1759060 CNV Deletion 17803354
esv2750135 CNV Deletion 23290073
esv1058598 CNV Deletion 17803354
nsv94807 CNV Loss 16902084
esv1555633 CNV Deletion 17803354
esv6913 CNV Loss 19470904
nsv1690 CNV Loss 18451855
nsv904586 CNV Gain 21882294
nsv523884 CNV Loss 19592680

Relevant External Links for CERS3 Gene

HapMap Linkage Disequilibrium report
CERS3
Human Gene Mutation Database (HGMD)
CERS3

Disorders for CERS3 Gene

(1) OMIM Diseases for CERS3 Gene (615276)

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.
genes like me logo Genes that share disorders with CERS3: view

Publications for CERS3 Gene

  1. 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
  2. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (PMID: 23754960) Radner F.P. … Fischer J. (PLoS Genet. 2013) 3 4
  3. Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. (PMID: 23898208) Johnson T.P. … Nath A. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3
  4. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for CERS3 Gene

Sources for CERS3 Gene

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