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    CERS5 ceramide synthase 5 [ Homo sapiens (human) ]

    Gene ID: 91012, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CERS5provided by HGNC
    Official Full Name
    ceramide synthase 5provided by HGNC
    Primary source
    HGNC:HGNC:23749
    See related
    Ensembl:ENSG00000139624 MIM:615335; AllianceGenome:HGNC:23749
    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
    Trh4; LASS5
    Summary
    This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in endometrium (RPKM 6.0), placenta (RPKM 5.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q13.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50129289..50167369, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50092380..50130460, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50523072..50561152, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6347 Neighboring gene glycerol-3-phosphate dehydrogenase 1 Neighboring gene cytochrome c oxidase assembly factor COX14 Neighboring gene uncharacterized LOC124902931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6349 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50561740-50562501 Neighboring gene LIM domain and actin binding 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:50611987-50613186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50615667-50616518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50628639-50629140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50629141-50629640 Neighboring gene microRNA 1293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4450 Neighboring gene RNA, U6 small nuclear 1093, pseudogene

    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. [Investigating the role of ceramide metabolism-associated CERS5 (LASS5) gene in atherosclerosis pathogenesis in endothelial cells]. Çoban N, et al. Turk Kardiyol Dern Ars, 2017 Mar. PMID 28424433
    2. Ceramide synthases at the centre of sphingolipid metabolism and biology. Mullen TD, et al. Biochem J, 2012 Feb 1. PMID 22248339, Free PMC Article
    3. Chemosensitivity of human colon cancer cells is influenced by a p53-dependent enhancement of ceramide synthase 5 and induction of autophagy. Brachtendorf S, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2018 Oct. PMID 30059758
    4. 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
    5. Ceramide generated by sphingomyelin hydrolysis and the salvage pathway is involved in hypoxia/reoxygenation-induced Bax redistribution to mitochondria in NT-2 cells. Jin J, et al. J Biol Chem, 2008 Sep 26. PMID 18676372, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of CERS5 as a molecular biomarker in pan-cancer through multiple omics integrative analysis.
      Title: Identification of CERS5 as a molecular biomarker in pan-cancer through multiple omics integrative analysis.
    2. in p53(wt) colon cancer cells chemosensitivity against oxaliplatin or 5-fluorouracil could be enhanced by downregulation of CerS5 expression leading to reduced autophagy and mitochondrial respiration.
      Title: Chemosensitivity of human colon cancer cells is influenced by a p53-dependent enhancement of ceramide synthase 5 and induction of autophagy.
    3. LASS5 interacts with SDHB and synergistically represses p53 and p21 activity.
      Title: LASS5 Interacts with SDHB and Synergistically Represses p53 and p21 Activity.
    4. Studied the role of ceramide synthase 5 (LASS5 or CERS5) gene in atherosclerosis. Downregulation of LASS5 by siRNA was found to attenuate ceramide production and increase expression of some AMPK target genes in HUVEC. Found that LASS5 was involved in negative regulation of atherosclerosis-related genes, such as AMPK-alpha.
      Title: [Investigating the role of ceramide metabolism-associated CERS5 (LASS5) gene in atherosclerosis pathogenesis in endothelial cells].
    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 CerS5 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. Overexpression of CerS5 increased apoptosis in HeLa cells.
      Title: Ceramide synthases 2, 5, and 6 confer distinct roles in radiation-induced apoptosis in HeLa cells.
    8. Down-regulation of either acid sphingomyelinase or LASS 5-attenuated ceramide accumulation and H/R-induced Bax translocation to mitochondria.
      Title: Ceramide generated by sphingomyelin hydrolysis and the salvage pathway is involved in hypoxia/reoxygenation-induced Bax redistribution to mitochondria in NT-2 cells.
    9. accumulation of C(16)-ceramide in mitochondria formed from the protein kinase C-dependent salvage pathway results at least in part from the action of longevity-assurance homologue 5, and the generated ceramide modulates the p38 cascade via PP1
      Title: Protein kinase C-induced activation of a ceramide/protein phosphatase 1 pathway leading to dephosphorylation of p38 MAPK.
    10. study identifies LASS5 as a genuine dihydroceramide synthase and demonstrates that mammalian dihydroceramide synthases do not require additional subunits for their activity
      Title: LASS5 is a bona fide dihydroceramide synthase that selectively utilizes palmitoyl-CoA as acyl donor.
    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

    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

    • FLJ25304, MGC45411

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 oligodendrocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 5
    Names
    LAG1 homolog, ceramide synthase 5
    LAG1 longevity assurance homolog 5
    TRAM homolog 4
    sphingoid base N-palmitoyltransferase CERS5
    sphingosine N-acyltransferase CERS5
    NP_001268660.1
    NP_001317998.1
    NP_001317999.1
    NP_001318000.1
    NP_001318001.1
    NP_001318002.1
    NP_671723.1
    XP_005269277.1
    XP_016875693.1
    XP_047285821.1
    XP_047285822.1
    XP_047285823.1
    XP_054229773.1
    XP_054229774.1
    XP_054229775.1
    XP_054229776.1
    XP_054229777.1
    XP_054229778.1

    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_001281731.2 → NP_001268660.1  ceramide synthase 5 isoform 2

      See identical proteins and their annotated locations for NP_001268660.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC074032, AK027087, AK300937, BC014637, DA230084, HY016808
      Consensus CDS
      CCDS61120.1
      UniProtKB/Swiss-Prot
      Q8N5B7
      Related
      ENSP00000389050.2, ENST00000422340.6
      Conserved Domains (2) summary
      smart00724
      Location:81 → 281
      TLC; TRAM, LAG1 and CLN8 homology domains
      cd00086
      Location:31 → 78
      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. NM_001331069.3 → NP_001317998.1  ceramide synthase 5 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    3. NM_001331070.3 → NP_001317999.1  ceramide synthase 5 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    4. NM_001331071.3 → NP_001318000.1  ceramide synthase 5 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016
      Conserved Domains (2) summary
      smart00724
      Location:139 → 339
      TLC; TRAM, LAG1 and CLN8 homology domains
      cd00086
      Location:89 → 136
      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. NM_001331072.3 → NP_001318001.1  ceramide synthase 5 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    6. NM_001331073.3 → NP_001318002.1  ceramide synthase 5 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    7. NM_147190.5 → NP_671723.1  ceramide synthase 5 isoform 1

      See identical proteins and their annotated locations for NP_671723.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC074032, AC139016, AK026014, AK300937
      Consensus CDS
      CCDS8801.1
      UniProtKB/Swiss-Prot
      B4DV54, Q8N5B7
      Related
      ENSP00000325485.6, ENST00000317551.12
      Conserved Domains (2) summary
      smart00724
      Location:139 → 339
      TLC; TRAM, LAG1 and CLN8 homology domains
      cd00086
      Location:89 → 136
      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.

    RNA

    1. NR_104035.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks one internal exon and contains one alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC074032, AK027087, BC033558, DA230084, HY016808
      Related
      ENST00000380189.8

    2. NR_138532.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    3. NR_138533.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    4. NR_138534.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    5. NR_138535.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    6. NR_138536.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC074032, AC139016

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      50129289..50167369 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269220.3 → XP_005269277.1  ceramide synthase 5 isoform X1

      Conserved Domains (2) summary
      cd00086
      Location:89 → 136
      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.
      pfam03798
      Location:140 → 333
      TRAM_LAG1_CLN8; TLC domain

    2. XM_047429866.1 → XP_047285822.1  ceramide synthase 5 isoform X3

    3. XM_047429865.1 → XP_047285821.1  ceramide synthase 5 isoform X2

    4. XM_047429867.1 → XP_047285823.1  ceramide synthase 5 isoform X5

    5. XM_017020204.3 → XP_016875693.1  ceramide synthase 5 isoform X4

      UniProtKB/TrEMBL
      H0YI10
      Related
      ENSP00000448295.2, ENST00000547800.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      50092380..50130460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373798.1 → XP_054229773.1  ceramide synthase 5 isoform X1

    2. XM_054373800.1 → XP_054229775.1  ceramide synthase 5 isoform X3

    3. XM_054373799.1 → XP_054229774.1  ceramide synthase 5 isoform X2

    4. XM_054373802.1 → XP_054229777.1  ceramide synthase 5 isoform X6

    5. XM_054373803.1 → XP_054229778.1  ceramide synthase 5 isoform X5

    6. XM_054373801.1 → XP_054229776.1  ceramide synthase 5 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5B7.1 GenPept UniProtKB/Swiss-Prot:Q8N5B7

    Gene LinkOut

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