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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
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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

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