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CERS6 ceramide synthase 6 [ Homo sapiens (human) ]

Gene ID: 253782, updated on 17-Jun-2024

Summary

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
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Genomic context

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

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?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001256126.2NP_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: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_203463.3NP_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: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: 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_005246440.6XP_005246497.1  ceramide synthase 6 isoform X2

    Conserved Domains (1) summary
    pfam03798
    Location:1132
    TRAM_LAG1_CLN8; TLC domain
  2. XM_017003749.3XP_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_054341269.1XP_054197244.1  ceramide synthase 6 isoform X1