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    CERS1 ceramide synthase 1 [ Homo sapiens (human) ]

    Gene ID: 10715, updated on 23-Mar-2024

    Summary

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    Official Symbol
    CERS1provided by HGNC
    Official Full Name
    ceramide synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:14253
    See related
    Ensembl:ENSG00000223802 MIM:606919; AllianceGenome:HGNC:14253
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPM8; GDF1; LAG1; UOG1; GDF-1; LASS1
    Summary
    This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in brain (RPKM 22.5) and testis (RPKM 5.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CERS1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18868545..18896982, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19004162..19032606, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18979354..19007791, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18900694-18901273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901274-18901854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901855-18902433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18905989-18906518 Neighboring gene cartilage oligomeric matrix protein Neighboring gene Sharpr-MPRA regulatory region 2922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10421 Neighboring gene NANOG hESC enhancer GRCh37_chr19:18944963-18945515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14332 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14333 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18960435-18960659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18994867-18995367 Neighboring gene growth differentiation factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10424 Neighboring gene COPI coat complex subunit epsilon Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19028406-19029296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14334 Neighboring gene DEAD-box helicase 49

    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. The Potential Role of CERS1 in Autophagy Through PI3K/AKT Signaling Pathway in Hypophysoma. Wang J, et al. Technol Cancer Res Treat, 2020 Jan-Dec. PMID 33267708, Free PMC Article
    2. Defects in cell growth regulation by C18:0-ceramide and longevity assurance gene 1 in human head and neck squamous cell carcinomas. Koybasi S, et al. J Biol Chem, 2004 Oct 22. PMID 15317812
    3. Programmed Cell Death Genes Are Linked to Elevated Creatine Kinase Levels in Unhealthy Male Nonagenarians. Kim S, et al. Gerontology, 2016. PMID 26913518, Free PMC Article
    4. Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. Vanni N, et al. Ann Neurol, 2014 Aug. PMID 24782409
    5. Ceramide targets autophagosomes to mitochondria and induces lethal mitophagy. Sentelle RD, et al. Nat Chem Biol, 2012 Oct. PMID 22922758, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of CERS1 in skeletal muscle exacerbates age-related muscle dysfunction.
      Title: Inhibition of CERS1 in skeletal muscle exacerbates age-related muscle dysfunction.
    2. The Potential Role of CERS1 in Autophagy Through PI3K/AKT Signaling Pathway in Hypophysoma.
      Title: The Potential Role of CERS1 in Autophagy Through PI3K/AKT Signaling Pathway in Hypophysoma.
    3. Single nucleotide polymorphisms in the gene LASS1 associated with programmed cell death, providing a potential cellular mechanism for the effects on tissue damage and circulating Creatine kinase.
      Title: Programmed Cell Death Genes Are Linked to Elevated Creatine Kinase Levels in Unhealthy Male Nonagenarians.
    4. This study highlights a close interaction between CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our findings suggest that CLN5p/CLN8p most likely are positive modulators of CerS1 and/or CerS2.
      Title: CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
    5. Moreover, an alternatively spliced variant CerS1 mRNA (CerS1-2) was detected mainly in cancer cells or primary tumour tissues compared to controls, which was targeted by miR-574-5p for degradation
      Title: Concerted functions of HDAC1 and microRNA-574-5p repress alternatively spliced ceramide synthase 1 expression in human cancer cells.
    6. The variation in LASS1 is functional, causing enhanced expression of the gene, and it contributes to healthy aging and greater survival in the tenth decade of life.
      Title: HRAS1 and LASS1 with APOE are associated with human longevity and healthy aging.
    7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: HRAS1 and LASS1 with APOE are associated with human longevity and healthy aging.
    8. The study suggests that diverse stresses initiate responses through different signaling pathways, which ultimately converge to regulate CerS1 localization.
      Title: Stress-induced ER to Golgi translocation of ceramide synthase 1 is dependent on proteasomal processing.
    9. regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a fumonisin B1-independent manner in mammalian cel
      Title: Upstream of growth and differentiation factor 1 (uog1), a mammalian homolog of the yeast longevity assurance gene 1 (LAG1), regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a fumonisin B1-independent manner in mammalian cells.
    10. LAG1 and C18-ceramide have roles in the regulation of growth of HNSCC
      Title: Defects in cell growth regulation by C18:0-ceramide and longevity assurance gene 1 in human head and neck squamous cell carcinomas.
    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

    Associated conditions

    Description Tests
    Progressive myoclonic epilepsy type 8
    MedGen: C5190825 OMIM: 616230 GeneReviews: Not available
    		Compare labs

    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

    • MGC90349

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables sphingosine N-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to UV-A IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to dithiothreitol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to mycotoxin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ceramide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of telomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of mitophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sphingolipid 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ceramide synthase 1
    Names
    Embryonic growth/differentiation factor 1
    longevity assurance (LAG1, S. cerevisiae) homolog 1
    longevity assurance gene 1 protein homolog 1
    protein UOG-1
    sphingoid base N-stearoyltransferase CERS1
    upstream of GDF1
    NP_001277194.1
    NP_001374368.1
    NP_001374369.1
    NP_001374370.1
    NP_001374371.1
    NP_001374372.1
    NP_001374373.1
    NP_001374374.1
    NP_067090.1
    NP_937850.1

    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.

    Genomic

    1. NG_033056.1 RefSeqGene

      Range
      4987..32600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290265.2 → NP_001277194.1  ceramide synthase 1 isoform 3

      See identical proteins and their annotated locations for NP_001277194.1

      Status: REVIEWED

      Source sequence(s)
      AC005197
      Consensus CDS
      CCDS77267.1
      UniProtKB/TrEMBL
      B4DE47, Q5XG75
      Related
      ENSP00000437648.1, ENST00000542296.6
      Conserved Domains (1) summary
      smart00724
      Location:1 → 213
      TLC; TRAM, LAG1 and CLN8 homology domains

    2. NM_001387439.1 → NP_001374368.1  ceramide synthase 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC005197
      Conserved Domains (1) summary
      smart00724
      Location:98 → 311
      TLC; TRAM, LAG1 and CLN8 homology domains

    3. NM_001387440.1 → NP_001374369.1  ceramide synthase 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC003972, AC005197
      Consensus CDS
      CCDS46020.1
      UniProtKB/Swiss-Prot
      P27544
      Conserved Domains (1) summary
      smart00724
      Location:98 → 311
      TLC; TRAM, LAG1 and CLN8 homology domains

    4. NM_001387441.1 → NP_001374370.1  ceramide synthase 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC005197
      Conserved Domains (1) summary
      smart00724
      Location:98 → 296
      TLC; TRAM, LAG1 and CLN8 homology domains

    5. NM_001387442.1 → NP_001374371.1  ceramide synthase 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC005197
      UniProtKB/TrEMBL
      B4DE47
      Conserved Domains (1) summary
      smart00724
      Location:1 → 213
      TLC; TRAM, LAG1 and CLN8 homology domains

    6. NM_001387443.1 → NP_001374372.1  ceramide synthase 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC005197
      UniProtKB/TrEMBL
      B4DE47
      Related
      ENSP00000471428.1, ENST00000596048.1
      Conserved Domains (1) summary
      smart00724
      Location:1 → 213
      TLC; TRAM, LAG1 and CLN8 homology domains

    7. NM_001387444.1 → NP_001374373.1  ceramide synthase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005197
      Consensus CDS
      CCDS77267.1
      UniProtKB/TrEMBL
      B4DE47, Q5XG75
      Conserved Domains (1) summary
      smart00724
      Location:1 → 213
      TLC; TRAM, LAG1 and CLN8 homology domains

    8. NM_001387445.1 → NP_001374374.1  ceramide synthase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005197
      Consensus CDS
      CCDS77267.1
      UniProtKB/TrEMBL
      B4DE47, Q5XG75
      Conserved Domains (1) summary
      smart00724
      Location:1 → 213
      TLC; TRAM, LAG1 and CLN8 homology domains

    9. NM_021267.5 → NP_067090.1  ceramide synthase 1 isoform 1

      See identical proteins and their annotated locations for NP_067090.1

      Status: REVIEWED

      Source sequence(s)
      AC003972, AC005197, AI671814, AL120193, M62302
      Consensus CDS
      CCDS46020.1
      UniProtKB/Swiss-Prot
      P27544
      Related
      ENSP00000485308.1, ENST00000623882.4
      Conserved Domains (1) summary
      smart00724
      Location:98 → 311
      TLC; TRAM, LAG1 and CLN8 homology domains

    10. NM_198207.3 → NP_937850.1  ceramide synthase 1 isoform 2

      See identical proteins and their annotated locations for NP_937850.1

      Status: REVIEWED

      Source sequence(s)
      AC005197, AL120193, BC032615
      Consensus CDS
      CCDS46021.1
      UniProtKB/Swiss-Prot
      P27544
      Related
      ENSP00000389044.1, ENST00000429504.6
      Conserved Domains (1) summary
      smart00724
      Location:98 → 311
      TLC; TRAM, LAG1 and CLN8 homology domains

    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
      18868545..18896982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19004162..19032606 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P27544.1 GenPept UniProtKB/Swiss-Prot:P27544

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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