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CERS6 ceramide synthase 6 [ Homo sapiens (human) ]

Gene ID: 253782, updated on 7-Jun-2020

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
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

Genomic context

See CERS6 in Genome Data Viewer
Location:
2q24.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 component of NDC80 kinetochore complex Neighboring gene glucose-6-phosphatase catalytic subunit 2

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sphingosine N-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingosine N-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
inflammatory response 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 

General protein information

Preferred Names
ceramide synthase 6
Names
LAG1 homolog, ceramide synthase 6
longevity assurance homolog 6

NCBI Reference Sequences (RefSeq)

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
    Q6ZMG9
    Related
    ENSP00000306579.6, ENST00000305747.10
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 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

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