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CERS1 ceramide synthase 1 [ Homo sapiens (human) ]

Gene ID: 10715, updated on 3-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18868545..18896982, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19004162..19032606, complement)
RS_2024_09 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 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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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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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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 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_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
    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

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