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    CERS6 ceramide synthase 6 [ Homo sapiens (human) ]

    Gene ID: 253782, updated on 11-Apr-2024

    Summary

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    Official Symbol
    CERS6provided by HGNC
    Official Full Name
    ceramide synthase 6provided by HGNC
    Primary source
    HGNC:HGNC:23826
    See related
    Ensembl:ENSG00000172292 MIM:615336; AllianceGenome:HGNC:23826
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CERS5; LASS6
    Summary
    Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon (RPKM 18.1), thyroid (RPKM 16.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CERS6 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (168456272..168775134)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (168914043..169232607)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (169312782..169631644)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373734 Neighboring gene NANOG hESC enhancer GRCh37_chr2:169211617-169212118 Neighboring gene uncharacterized LOC102724081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12080 Neighboring gene RNA, 7SL, cytoplasmic 813, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:169406684-169407255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:169407256-169407826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12081 Neighboring gene NANOG hESC enhancer GRCh37_chr2:169459973-169460474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:169471049-169471548 Neighboring gene microRNA 4774 Neighboring gene RNA, U6 small nuclear 766, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:169592586-169593086 Neighboring gene CERS6 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 4310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:169658591-169659090 Neighboring gene nitric oxide synthase trafficking Neighboring gene uncharacterized LOC124907904 Neighboring gene SPC25 component of NDC80 kinetochore complex

    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. CerS6 triggered by high glucose activating the TLR4/IKKβ pathway regulates ferroptosis of LO2 cells through mitochondrial oxidative stress. Li D, et al. Mol Cell Endocrinol, 2023 Jul 15. PMID 37230220
    2. Comprehensive analysis of LASS6 expression and prognostic value in ovarian cancer. Xing J, et al. J Ovarian Res, 2021 Sep 7. PMID 34488809, Free PMC Article
    3. CERS6 required for cell migration and metastasis in lung cancer. Suzuki M, et al. J Cell Mol Med, 2020 Oct. PMID 32902157, Free PMC Article
    4. Noncoding Variations in the Gene Encoding Ceramide Synthase 6 are Associated with Type 2 Diabetes in a Large Indigenous Australian Pedigree. Good DA, et al. Twin Res Hum Genet, 2019 Apr. PMID 31012404
    5. Ceramide Synthase 6: Comparative Analysis, Phylogeny and Evolution. Holmes RS, et al. Biomolecules, 2018 Oct 8. PMID 30297675, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ceramide synthase 6 (CerS6) is upregulated in alcohol-associated liver disease and exhibits sex-based differences in the regulation of energy homeostasis and lipid droplet accumulation.
      Title: Ceramide synthase 6 (CerS6) is upregulated in alcohol-associated liver disease and exhibits sex-based differences in the regulation of energy homeostasis and lipid droplet accumulation.
    2. CerS6 triggered by high glucose activating the TLR4/IKKbeta pathway regulates ferroptosis of LO2 cells through mitochondrial oxidative stress.
      Title: CerS6 triggered by high glucose activating the TLR4/IKKβ pathway regulates ferroptosis of LO2 cells through mitochondrial oxidative stress.
    3. CircCERS6 Suppresses the Development of Epithelial Ovarian Cancer Through Mediating miR-630/RASSF8.
      Title: CircCERS6 Suppresses the Development of Epithelial Ovarian Cancer Through Mediating miR-630/RASSF8.
    4. Dependence of ABCB1 transporter expression and function on distinct sphingolipids generated by ceramide synthases-2 and -6 in chemoresistant renal cancer.
      Title: Dependence of ABCB1 transporter expression and function on distinct sphingolipids generated by ceramide synthases-2 and -6 in chemoresistant renal cancer.
    5. Comprehensive analysis of LASS6 expression and prognostic value in ovarian cancer.
      Title: Comprehensive analysis of LASS6 expression and prognostic value in ovarian cancer.
    6. AKT1/FOXP3 axis-mediated expression of CerS6 promotes p53 mutant pancreatic tumorigenesis.
      Title: AKT1/FOXP3 axis-mediated expression of CerS6 promotes p53 mutant pancreatic tumorigenesis.
    7. CEBPgamma facilitates lamellipodia formation and cancer cell migration through CERS6 upregulation.
      Title: CEBPγ facilitates lamellipodia formation and cancer cell migration through CERS6 upregulation.
    8. CERS6 required for cell migration and metastasis in lung cancer.
      Title: CERS6 required for cell migration and metastasis in lung cancer.
    9. Long noncoding RNA CERS6-AS1 functions as a malignancy promoter in breast cancer by binding to IGF2BP3 to enhance the stability of CERS6 mRNA.
      Title: Long noncoding RNA CERS6-AS1 functions as a malignancy promoter in breast cancer by binding to IGF2BP3 to enhance the stability of CERS6 mRNA.
    10. These associations were successfully replicated in an independent collection of Indigenous Australian T2D cases and controls. These SNPs all lie within the gene encoding ceramide synthase 6 (CERS6) and thus may regulate ceramide synthesis.
      Title: Noncoding Variations in the Gene Encoding Ceramide Synthase 6 are Associated with Type 2 Diabetes in a Large Indigenous Australian Pedigree.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
    EBI GWAS Catalog

    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

    • MGC129949, MGC129950, DKFZp434B102

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oligodendrocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of oligodendrocyte apoptotic process 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
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    ceramide synthase 6
    Names
    LAG1 homolog, ceramide synthase 6
    longevity assurance homolog 6
    sphingoid base N-palmitoyltransferase CERS6
    NP_001243055.1
    NP_982288.1
    XP_005246497.1
    XP_016859238.1
    XP_054197244.1

    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_001256126.2 → NP_001243055.1  ceramide synthase 6 isoform 1

      See identical proteins and their annotated locations for NP_001243055.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC009475, AK172775, BC109284, BM968545
      Consensus CDS
      CCDS58734.1
      UniProtKB/Swiss-Prot
      Q6ZMG9
      Related
      ENSP00000376453.4, ENST00000392687.4
      Conserved Domains (2) summary
      cd00086
      Location:80 → 127
      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:131 → 324
      TRAM_LAG1_CLN8; TLC domain

    2. NM_203463.3 → NP_982288.1  ceramide synthase 6 isoform 2

      See identical proteins and their annotated locations for NP_982288.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC009475, AK172775, BM968545
      Consensus CDS
      CCDS2228.1
      UniProtKB/Swiss-Prot
      Q32M63, Q6ZMG9, Q8N617
      Related
      ENSP00000306579.6, ENST00000305747.11
      Conserved Domains (2) summary
      cd00086
      Location:80 → 127
      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:131 → 324
      TRAM_LAG1_CLN8; TLC domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      168456272..168775134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246440.6 → XP_005246497.1  ceramide synthase 6 isoform X2

      Conserved Domains (1) summary
      pfam03798
      Location:1 → 132
      TRAM_LAG1_CLN8; TLC domain

    2. XM_017003749.3 → XP_016859238.1  ceramide synthase 6 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      168914043..169232607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341269.1 → XP_054197244.1  ceramide synthase 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZMG9.1 GenPept UniProtKB/Swiss-Prot:Q6ZMG9

    Gene LinkOut

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

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