Format

Send to:

Choose Destination
    • Showing Current items.

    CERS6 ceramide synthase 6 [ Homo sapiens (human) ]

    Gene ID: 253782, updated on 8-Jul-2018
    Official Symbol
    CERS6provided by HGNC
    Official Full Name
    ceramide synthase 6provided by HGNC
    Primary source
    HGNC:HGNC:23826
    See related
    Ensembl:ENSG00000172292 MIM:615336; Vega:OTTHUMG00000132183
    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
    Expression
    Ubiquitous expression in colon (RPKM 18.1), thyroid (RPKM 16.4) and 25 other tissues See more
    Orthologs
    See CERS6 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (168455862..168775134)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (169312759..169631644)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373734 Neighboring gene uncharacterized LOC102724081 Neighboring gene RNA, 7SL, cytoplasmic 813, pseudogene Neighboring gene microRNA 4774 Neighboring gene RNA, U6 small nuclear 766, pseudogene Neighboring gene CERS6 antisense RNA 1 Neighboring gene nitric oxide synthase trafficking Neighboring gene SPC25, NDC80 kinetochore complex component Neighboring gene glucose-6-phosphatase catalytic subunit 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC129949, MGC129950, DKFZp434B102

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    N-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
    Inferred from Sequence Model
    more info
    PubMed 
    sphingosine N-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sphingosine N-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    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 membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ceramide synthase 6
    Names
    LAG1 homolog, ceramide synthase 6
    longevity assurance homolog 6

    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_001256126.1NP_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, OTTHUMP00000163047, ENST00000392687.4, OTTHUMT00000255236
      Conserved Domains (2) summary
      cd00086
      Location:80127
      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:131324
      TRAM_LAG1_CLN8; TLC domain
    2. NM_203463.2NP_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
      Q6ZMG9
      Related
      ENSP00000306579.6, OTTHUMP00000163046, ENST00000305747.10, OTTHUMT00000255235
      Conserved Domains (2) summary
      cd00086
      Location:80127
      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:131324
      TRAM_LAG1_CLN8; TLC domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      168455862..168775134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452780.1XP_024308548.1  ceramide synthase 6 isoform X1

      Conserved Domains (2) summary
      cd00086
      Location:80127
      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:131282
      TRAM_LAG1_CLN8; TLC domain
    2. XM_024452781.1XP_024308549.1  ceramide synthase 6 isoform X2

      Conserved Domains (2) summary
      cd00086
      Location:80127
      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:131281
      TRAM_LAG1_CLN8; TLC domain
    3. XM_005246440.5XP_005246497.1  ceramide synthase 6 isoform X4

      Conserved Domains (1) summary
      pfam03798
      Location:1132
      TRAM_LAG1_CLN8; TLC domain
    4. XM_017003749.2XP_016859238.1  ceramide synthase 6 isoform X3

    Support Center