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    CERS4 ceramide synthase 4 [ Homo sapiens (human) ]

    Gene ID: 79603, updated on 28-Oct-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. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.9), prostate (RPKM 10.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CERS4 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8209370..8262421)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8210805..8263817)
    RS_2024_09 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 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. Ceramide synthase 4 overexpression exerts oncogenic properties in breast cancer. Kim SJ, et al. Lipids Health Dis, 2023 Oct 26. PMID 37885013, Free PMC Article
    2. Linkage and association of phospholipid transfer protein activity to LASS4. Rosenthal EA, et al. J Lipid Res, 2011 Oct. PMID 21757428, Free PMC Article
    3. Ceramide synthase CERS4 gene downregulation is associated with KRAS mutation in colorectal cancer. Hayama T, et al. Sci Rep, 2023 Sep 27. PMID 37758931, Free PMC Article
    4. Ceramide synthase 4 deficiency in mice causes lipid alterations in sebum and results in alopecia. Ebel P, et al. Biochem J, 2014 Jul 1. PMID 24738593
    5. 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

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phospholipid metabolism-related genotypes of PLA2R1 and CERS4 contribute to nonobese MASLD.
      Title: Phospholipid metabolism-related genotypes of PLA2R1 and CERS4 contribute to nonobese MASLD.
    2. Ceramide synthase 4 overexpression exerts oncogenic properties in breast cancer.
      Title: Ceramide synthase 4 overexpression exerts oncogenic properties in breast cancer.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. The linkage and association of phospholipid transfer protein activity to LASS4 were studied.
      Title: Linkage and association of phospholipid transfer protein activity to LASS4.
    9. 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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    NEW Try the new Transcript table

    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_2024_08

    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, ENST00000559450.6
      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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