Human Gene CERS3 (ENST00000538112.6) from GENCODE V44
  Description: Homo sapiens ceramide synthase 3 (CERS3), transcript variant 2, mRNA. (from RefSeq NM_001290342)
RefSeq Summary (NM_001290342): 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].
Gencode Transcript: ENST00000538112.6
Gencode Gene: ENSG00000154227.14
Transcript (Including UTRs)
   Position: hg38 chr15:100,402,511-100,544,271 Size: 141,761 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg38 chr15:100,402,713-100,501,849 Size: 99,137 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:100,402,511-100,544,271)mRNA (may differ from genome)Protein (383 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CERS3_HUMAN
DESCRIPTION: RecName: Full=Ceramide synthase 3; Short=CerS3; AltName: Full=LAG1 longevity assurance homolog 3;
FUNCTION: May be involved in sphingolipid synthesis or its regulation (By similarity).
SUBCELLULAR LOCATION: Nucleus membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SIMILARITY: Contains 1 TLC (TRAM/LAG1/CLN8) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CERS3
Diseases sorted by gene-association score: ichthyosis, congenital, autosomal recessive 9* (1019), autosomal recessive congenital ichthyosis* (146), weill-marchesani-like syndrome* (18), ichthyosis (10), congenital ichthyosiform erythroderma (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.89 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 101.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.80502-0.310 Picture PostScript Text
3' UTR -40.89202-0.202 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR016439 - Longevity_assurance_LAG1_LAC1
IPR006634 - TLC-dom

Pfam Domains:
PF00046 - Homeobox domain
PF03798 - TLC domain

ModBase Predicted Comparative 3D Structure on Q8IU89
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0016740 transferase activity
GO:0050291 sphingosine N-acyltransferase activity

Biological Process:
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006629 lipid metabolic process
GO:0030148 sphingolipid biosynthetic process
GO:0030216 keratinocyte differentiation
GO:0046513 ceramide biosynthetic process

Cellular Component:
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  BC034500 - Homo sapiens LAG1 homolog, ceramide synthase 3, mRNA (cDNA clone MGC:26926 IMAGE:4838423), complete cds.
BC034970 - Homo sapiens LAG1 homolog, ceramide synthase 3, mRNA (cDNA clone MGC:26850 IMAGE:4822006), complete cds.
BC028703 - Homo sapiens LAG1 homolog, ceramide synthase 3, mRNA (cDNA clone MGC:26920 IMAGE:4837657), complete cds.
BC027616 - Homo sapiens LAG1 longevity assurance homolog 3 (S. cerevisiae), mRNA (cDNA clone IMAGE:4828495), partial cds.
JD402346 - Sequence 383370 from Patent EP1572962.
KJ906454 - Synthetic construct Homo sapiens clone ccsbBroadEn_16124 CERS3 gene, encodes complete protein.
DQ890899 - Synthetic construct clone IMAGE:100003529; FLH166919.01X; RZPDo839E1288D LAG1 longevity assurance homolog 3 (S. cerevisiae) (LASS3) gene, encodes complete protein.
KJ900437 - Synthetic construct Homo sapiens clone ccsbBroadEn_09831 CERS3 gene, encodes complete protein.
EU176496 - Synthetic construct Homo sapiens clone IMAGE:100011351; FLH166918.01L; RZPDo839H03253D LAG1 homolog, ceramide synthase 3 (LASS3) gene, encodes complete protein.
AB527465 - Synthetic construct DNA, clone: pF1KB7656, Homo sapiens LASS3 gene for LAG1 homolog, ceramide synthase 3, without stop codon, in Flexi system.
CU690002 - Synthetic construct Homo sapiens gateway clone IMAGE:100019175 5' read LASS3 mRNA.
AK307191 - Homo sapiens cDNA, FLJ97139.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IU89 (Reactome details) participates in the following event(s):

R-HSA-428185 sphinganine + stearyl-CoA => dihydroceramide + CoASH
R-HSA-1660661 Sphingolipid de novo biosynthesis
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: CERS3_HUMAN, ENST00000538112.1, ENST00000538112.2, ENST00000538112.3, ENST00000538112.4, ENST00000538112.5, LASS3, NM_001290342, Q8IU89, Q8NE64, Q8NEN6, uc002bvz.1, uc002bvz.2, uc002bvz.3, uc002bvz.4
UCSC ID: ENST00000538112.6
RefSeq Accession: NM_001290342
Protein: Q8IU89 (aka CERS3_HUMAN)
CCDS: CCDS10384.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CERS3:
li-ar (Autosomal Recessive Congenital Ichthyosis)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.