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CERS4 ceramide synthase 4 [ Homo sapiens (human) ]

Gene ID: 79603, updated on 3-Apr-2024

Summary

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Official Symbol
CERS4provided by HGNC
Official Full Name
ceramide synthase 4provided by HGNC
Primary source
HGNC:HGNC:23747
See related
Ensembl:ENSG00000090661 MIM:615334; AllianceGenome:HGNC:23747
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Trh1; LASS4
Summary
Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 13.9), prostate (RPKM 10.3) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8209370..8262421)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8210805..8263817)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8274254..8327305)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3327 silencer Neighboring gene fibrillin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8175802-8176302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8180417-8180917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8183744-8184561 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8185348-8185938 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8185939-8186529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8193691-8194192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8206295-8206796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8208101-8208645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8211691-8212662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8212663-8213633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10012 Neighboring gene Sharpr-MPRA regulatory region 3488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8226075-8226576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8228221-8229026 Neighboring gene ALG11, alpha-1,2-mannosyltransferase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260104-8260957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260958-8261810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8268618-8269588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8280063-8280564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8285012-8285518 Neighboring gene uncharacterized LOC107985282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13910 Neighboring gene MPRA-validated peak3333 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8368800-8369366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8372005-8372745 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8372746-8373485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8373541-8374070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8376825-8377427 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8380680-8381486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8384379-8385346 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:8385347-8386314 and GRCh37_chr19:8386315-8387282 Neighboring gene CD320 molecule Neighboring gene NADH:ubiquinone oxidoreductase subunit A7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Linkage and association of phospholipid transfer protein activity to LASS4. Rosenthal EA, et al. J Lipid Res, 2011 Oct. PMID 21757428, Free PMC Article
  2. Linking the ceramide synthases (CerSs) 4 and 5 with apoptosis, endometrial and colon cancers. Mojakgomo R, et al. Exp Mol Pathol, 2015 Jun. PMID 25779024
  3. Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium. de Oliveira Otto MC, et al. PLoS One, 2018. PMID 29738550, Free PMC Article
  4. The equilibrium between long and very long chain ceramides is important for the fate of the cell and can be influenced by co-expression of CerS. Hartmann D, et al. Int J Biochem Cell Biol, 2013 Jul. PMID 23538298
  5. Eleven residues determine the acyl chain specificity of ceramide synthases. Tidhar R, et al. J Biol Chem, 2018 Jun 22. PMID 29632068, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ceramide synthase 4 overexpression exerts oncogenic properties in breast cancer.
    Title: Ceramide synthase 4 overexpression exerts oncogenic properties in breast cancer.
  2. Ceramide synthase CERS4 gene downregulation is associated with KRAS mutation in colorectal cancer.
    Title: Ceramide synthase CERS4 gene downregulation is associated with KRAS mutation in colorectal cancer.
  3. nine SNPs in the ceramide synthase 4 (CERS4) region were associated with circulating C23:0 levels (adjusted P<5x10-2)
    Title: Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.
  4. These results suggest that the phosphorylation of ceramide synthases may be a key regulatory point in the control of the distribution and levels of sphingolipids of various acyl-chain lengths.
    Title: Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.
  5. mRNA level of CerS4 is higher in cancerous cell lines and decreases following the induction of apoptosis.
    Title: Linking the ceramide synthases (CerSs) 4 and 5 with apoptosis, endometrial and colon cancers.
  6. Co-expression of CerS2 with CerS4/CerS6 reversed the inhibitory effect of long chain ceramides on cell proliferation and the induction of apoptosis. we detected no effect on cell proliferation.
    Title: The equilibrium between long and very long chain ceramides is important for the fate of the cell and can be influenced by co-expression of CerS.
  7. The linkage and association of phospholipid transfer protein activity to LASS4 were studied.
    Title: Linkage and association of phospholipid transfer protein activity to LASS4.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sphingosine N-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sphingosine N-acyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sphingosine N-acyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ceramide synthase 4
Names
LAG1 homolog, ceramide synthase 4
LAG1 longevity assurance homolog 4
sphingosine N-acyltransferase CERS4
NP_078828.2
XP_011526592.1
XP_011526593.1
XP_016882793.1
XP_016882794.1
XP_047295389.1
XP_047295390.1
XP_047295391.1
XP_047295392.1
XP_047295393.1
XP_047295394.1
XP_047295395.1
XP_054178119.1
XP_054178120.1
XP_054178121.1
XP_054178122.1
XP_054178123.1
XP_054178124.1
XP_054178125.1
XP_054178126.1
XP_054178127.1
XP_054178128.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_024552.3 → NP_078828.2  ceramide synthase 4

    See identical proteins and their annotated locations for NP_078828.2

    Status: VALIDATED

    Source sequence(s)
    AC022146, AK222621, BC009828, DA381485
    Consensus CDS
    CCDS12197.1
    UniProtKB/Swiss-Prot
    D6W665, Q9HA82
    UniProtKB/TrEMBL
    Q53HF9
    Related
    ENSP00000251363.5, ENST00000251363.10
    Conserved Domains (2) summary
    smart00724
    Location:131 → 332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71 → 128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    8209370..8262421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027304.2 → XP_016882793.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82
    UniProtKB/TrEMBL
    Q53HF9
    Conserved Domains (2) summary
    smart00724
    Location:131 → 332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71 → 128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

  2. XM_047439435.1 → XP_047295391.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82
    Related
    ENST00000595722.5

  3. XM_047439433.1 → XP_047295389.1  ceramide synthase 4 isoform X2

  4. XM_011528290.3 → XP_011526592.1  ceramide synthase 4 isoform X1

    See identical proteins and their annotated locations for XP_011526592.1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82
    UniProtKB/TrEMBL
    Q53HF9
    Conserved Domains (2) summary
    smart00724
    Location:131 → 332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71 → 128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

  5. XM_017027305.2 → XP_016882794.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82
    UniProtKB/TrEMBL
    Q53HF9
    Related
    ENSP00000453509.1, ENST00000559450.5
    Conserved Domains (2) summary
    smart00724
    Location:131 → 332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71 → 128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

  6. XM_047439437.1 → XP_047295393.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  7. XM_047439434.1 → XP_047295390.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  8. XM_047439436.1 → XP_047295392.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  9. XM_011528291.3 → XP_011526593.1  ceramide synthase 4 isoform X1

    See identical proteins and their annotated locations for XP_011526593.1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82
    UniProtKB/TrEMBL
    Q53HF9
    Conserved Domains (2) summary
    smart00724
    Location:131 → 332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71 → 128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

  10. XM_047439438.1 → XP_047295394.1  ceramide synthase 4 isoform X3

  11. XM_047439439.1 → XP_047295395.1  ceramide synthase 4 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    8210805..8263817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322146.1 → XP_054178121.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  2. XM_054322150.1 → XP_054178125.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  3. XM_054322145.1 → XP_054178120.1  ceramide synthase 4 isoform X2

  4. XM_054322144.1 → XP_054178119.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  5. XM_054322148.1 → XP_054178123.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  6. XM_054322149.1 → XP_054178124.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  7. XM_054322147.1 → XP_054178122.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  8. XM_054322151.1 → XP_054178126.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    D6W665, Q9HA82

  9. XM_054322152.1 → XP_054178127.1  ceramide synthase 4 isoform X3

  10. XM_054322153.1 → XP_054178128.1  ceramide synthase 4 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HA82.2 GenPept UniProtKB/Swiss-Prot:Q9HA82

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