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CERS1 ceramide synthase 1 [ Homo sapiens (human) ]

Gene ID: 10715, updated on 2-Mar-2021

Summary

Official Symbol
CERS1provided by HGNC
Official Full Name
ceramide synthase 1provided by HGNC
Primary source
HGNC:HGNC:14253
See related
Ensembl:ENSG00000223802 MIM:606919
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

See CERS1 in Genome Data Viewer
Location:
19p13.11
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18868545..18896982, complement)
105.20201022 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 uncharacterized LOC107985321 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene growth differentiation factor 1 Neighboring gene COPI coat complex subunit epsilon Neighboring gene DEAD-box helicase 49

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC90349

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingosine N-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingosine N-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
sphingosine N-acyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular response to UV-A IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to dithiothreitol IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to drug IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mycotoxin IDA
Inferred from Direct Assay
more info
PubMed 
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
ceramide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
sphingolipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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
upstream of GDF1

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_001290265.2NP_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:1213
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. NM_001387439.1NP_001374368.1  ceramide synthase 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005197
  3. NM_001387440.1NP_001374369.1  ceramide synthase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC003972, AC005197
  4. NM_001387441.1NP_001374370.1  ceramide synthase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC005197
  5. NM_001387442.1NP_001374371.1  ceramide synthase 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC005197
  6. NM_001387443.1NP_001374372.1  ceramide synthase 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC005197
    Related
    ENSP00000471428.1, ENST00000596048.1
  7. NM_001387444.1NP_001374373.1  ceramide synthase 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005197
  8. NM_001387445.1NP_001374374.1  ceramide synthase 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005197
  9. NM_021267.5NP_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, ENST00000623882.3
    Conserved Domains (1) summary
    smart00724
    Location:98311
    TLC; TRAM, LAG1 and CLN8 homology domains
  10. NM_198207.3NP_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:98311
    TLC; TRAM, LAG1 and CLN8 homology domains

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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