Aliases for CERS6 Gene

Aliases for CERS6 Gene

  • Ceramide Synthase 6 2 3 4 5
  • LAG1 Homolog, Ceramide Synthase 6 2 3
  • LASS6 3 4
  • LAG1 Longevity Assurance Homolog 6 (S. Cerevisiae) 2
  • LAG1 Longevity Assurance Homolog 6 4
  • Longevity Assurance Homolog 6 3
  • EC 2.3.1.- 4
  • CERS5 3
  • CerS6 4

External Ids for CERS6 Gene

Previous HGNC Symbols for CERS6 Gene

  • LASS6

Previous GeneCards Identifiers for CERS6 Gene

  • GC02P169313

Summaries for CERS6 Gene

GeneCards Summary for CERS6 Gene

CERS6 (Ceramide Synthase 6) is a Protein Coding gene. Diseases associated with CERS6 include Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is CERS5.

UniProtKB/Swiss-Prot Summary for CERS6 Gene

  • Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor (PubMed:17977534, PubMed:17609214, PubMed:23530041, PubMed:26887952). Can use other acyl donors, but with less efficiency (By similarity). Ceramides generated by CERS6 play a role in inflammatory response (By similarity). Acts as a regulator of metabolism and hepatic lipid accumulation (By similarity). Under high fat diet, palmitoyl- (C16:0-) ceramides generated by CERS6 specifically bind the mitochondrial fission factor MFF, thereby promoting mitochondrial fragmentation and contributing to the development of obesity (By similarity).

Additional gene information for CERS6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CERS6 Gene

Genomics for CERS6 Gene

GeneHancer (GH) Regulatory Elements for CERS6 Gene

Promoters and enhancers for CERS6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J168454 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.9 860 4.2 HNRNPK NRF1 POLR2G USF1 SP1 NCOR1 GTF2E2 PHF8 FOS ZIC2 CERS6 lnc-STK39-3 LOC102724081
GH02J168513 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.8 +67.9 67875 23.5 EP300 ZSCAN5C NRF1 JUND TRIM28 KLF4 CTBP1 ZNF341 NR2F2 TCF12 CERS6 AB372670-009 lnc-NOSTRIN-1
GH02J168544 Enhancer 1 Ensembl ENCODE dbSUPER 18.4 +88.2 88239 6.2 CTBP1 WT1 ZNF263 FOS NR3C1 POLR2A SPI1 EZH2 STAT3 HOMEZ CERS6 AB372670-009 lnc-NOSTRIN-1
GH02J168476 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.6 +24.5 24539 11.2 TCF12 NCOR1 TEAD1 TBX3 ZKSCAN8 CTBP1 NR2F2 USF1 SAP130 FOSL2 CERS6 lnc-NOSTRIN-1 LOC102724081
GH02J168538 Enhancer 0.8 Ensembl ENCODE dbSUPER 16.3 +81.9 81874 2.3 CEBPG FOS ATF4 JUN ATF3 CEBPB CERS6 AB372670-009 lnc-NOSTRIN-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CERS6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CERS6

Genomic Locations for CERS6 Gene

Genomic Locations for CERS6 Gene
chr2:168,455,862-168,775,137
(GRCh38/hg38)
Size:
319,276 bases
Orientation:
Plus strand
chr2:169,312,372-169,631,644
(GRCh37/hg19)
Size:
319,273 bases
Orientation:
Plus strand

Genomic View for CERS6 Gene

Genes around CERS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CERS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CERS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CERS6 Gene

Proteins for CERS6 Gene

  • Protein details for CERS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMG9-CERS6_HUMAN
    Recommended name:
    Ceramide synthase 6
    Protein Accession:
    Q6ZMG9
    Secondary Accessions:
    • Q32M63
    • Q8N617

    Protein attributes for CERS6 Gene

    Size:
    384 amino acids
    Molecular mass:
    44890 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH30800.2; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for CERS6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CERS6 Gene

Post-translational modifications for CERS6 Gene

  • Phosphorylated at the C-terminus by CK2.
  • Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation.
  • Glycosylation at Asn18
  • Ubiquitination at Lys104
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CERS6_HUMAN (1107)

Other Protein References for CERS6 Gene

No data available for DME Specific Peptides for CERS6 Gene

Domains & Families for CERS6 Gene

Gene Families for CERS6 Gene

Protein Domains for CERS6 Gene

Blocks:
  • Longevity-assurance protein (LAG1)
  • TRAM, LAG1 and CLN8 homology
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CERS6 Gene

GenScript: Design optimal peptide antigens:
  • LAG1 longevity assurance homolog 6 (LASS6_HUMAN)
genes like me logo Genes that share domains with CERS6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CERS6 Gene

Function for CERS6 Gene

Molecular function for CERS6 Gene

UniProtKB/Swiss-Prot Function:
Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor (PubMed:17977534, PubMed:17609214, PubMed:23530041, PubMed:26887952). Can use other acyl donors, but with less efficiency (By similarity). Ceramides generated by CERS6 play a role in inflammatory response (By similarity). Acts as a regulator of metabolism and hepatic lipid accumulation (By similarity). Under high fat diet, palmitoyl- (C16:0-) ceramides generated by CERS6 specifically bind the mitochondrial fission factor MFF, thereby promoting mitochondrial fragmentation and contributing to the development of obesity (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanoyl-CoA + sphinganine = CoA + H(+) + N-hexadecanoylsphinganine; Xref=Rhea:RHEA:36539, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57817, ChEBI:CHEBI:67042; Evidence={ECO:0000269 PubMed:17977534, ECO:0000269 PubMed:23530041, ECO:0000269 PubMed:26887952}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36540; Evidence={ECO:0000269 PubMed:17977534, ECO:0000269 PubMed:23530041, ECO:0000269 PubMed:26887952};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=octadecanoyl-CoA + sphinganine = CoA + H(+) + N-(octadecanoyl)-sphinganine; Xref=Rhea:RHEA:36547, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57817, ChEBI:CHEBI:67033; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36548; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=sphinganine + tetradecanoyl-CoA = CoA + H(+) + N-(tetradecanoyl)-sphinganine; Xref=Rhea:RHEA:36571, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385, ChEBI:CHEBI:57817, ChEBI:CHEBI:67045; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36572; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanoyl-CoA + hexadecasphinganine = CoA + H(+) + N-hexadecanoylhexadecasphinganine; Xref=Rhea:RHEA:43040, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:71009, ChEBI:CHEBI:82810; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43041; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.0 uM for sphinganine {ECO:0000269 PubMed:17977534};
UniProtKB/Swiss-Prot Induction:
Up-regulated in adipose tissues in obese patients.

Enzyme Numbers (IUBMB) for CERS6 Gene

Phenotypes From GWAS Catalog for CERS6 Gene

Gene Ontology (GO) - Molecular Function for CERS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 28298427
GO:0016740 transferase activity IEA --
GO:0050291 sphingosine N-acyltransferase activity IDA 17609214
genes like me logo Genes that share ontologies with CERS6: view
genes like me logo Genes that share phenotypes with CERS6: view

Animal Models for CERS6 Gene

MGI Knock Outs for CERS6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS6

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CERS6 Gene

Localization for CERS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERS6 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CERS6 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
cytosol 3
mitochondrion 2
lysosome 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CERS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CERS6: view

Pathways & Interactions for CERS6 Gene

genes like me logo Genes that share pathways with CERS6: view

Pathways by source for CERS6 Gene

UniProtKB/Swiss-Prot Q6ZMG9-CERS6_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for CERS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006954 inflammatory response IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
genes like me logo Genes that share ontologies with CERS6: view

No data available for SIGNOR curated interactions for CERS6 Gene

Drugs & Compounds for CERS6 Gene

(4) Drugs for CERS6 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
Coenzyme A Investigational Nutra 0
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0
sphinganine Pharma 0
genes like me logo Genes that share compounds with CERS6: view

Transcripts for CERS6 Gene

mRNA/cDNA for CERS6 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS6

Alternative Splicing Database (ASD) splice patterns (SP) for CERS6 Gene

No ASD Table

Relevant External Links for CERS6 Gene

GeneLoc Exon Structure for
CERS6

Expression for CERS6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CERS6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CERS6 Gene

This gene is overexpressed in Lung (15.4), Fetal Brain (10.7), Testis (9.7), and Fetal gut (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CERS6 Gene



Protein tissue co-expression partners for CERS6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CERS6

SOURCE GeneReport for Unigene cluster for CERS6 Gene:

Hs.506829

Evidence on tissue expression from TISSUES for CERS6 Gene

  • Intestine(4.4)
  • Liver(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with CERS6: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CERS6 Gene

Orthologs for CERS6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CERS6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CERS6 31
  • 100 (a)
OneToOne
LASS6 30
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia CERS6 31 30
  • 93.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CERS6 31 30
  • 93.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cers6 17 31 30
  • 90.28 (n)
rat
(Rattus norvegicus)
Mammalia Cers6 30
  • 90.19 (n)
oppossum
(Monodelphis domestica)
Mammalia CERS6 31
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CERS6 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CERS6 31 30
  • 77.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CERS6 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cers6 30
  • 77.35 (n)
zebrafish
(Danio rerio)
Actinopterygii cers6 31 30
  • 72.96 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta schlank 31
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hyl-1 31
  • 27 (a)
ManyToMany
hyl-2 31
  • 26 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G26200 30
  • 45.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9504 31
  • 44 (a)
OneToMany
Species where no ortholog for CERS6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CERS6 Gene

ENSEMBL:
Gene Tree for CERS6 (if available)
TreeFam:
Gene Tree for CERS6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CERS6: view image

Paralogs for CERS6 Gene

Paralogs for CERS6 Gene

(5) SIMAP similar genes for CERS6 Gene using alignment to 1 proteins:

  • CERS6_HUMAN
genes like me logo Genes that share paralogs with CERS6: view

Variants for CERS6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CERS6 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
755924 Likely Benign: not provided 168,765,662(+) C/T SYNONYMOUS_VARIANT
769263 Benign: not provided 168,715,009(+) C/T SYNONYMOUS_VARIANT
780837 Benign: not provided 168,715,100(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CERS6 Gene

Structural Variations from Database of Genomic Variants (DGV) for CERS6 Gene

Variant ID Type Subtype PubMed ID
dgv2088n106 CNV deletion 24896259
dgv64n68 CNV gain 17160897
esv1631379 CNV deletion 17803354
esv1682076 CNV deletion 17803354
esv1983529 CNV deletion 18987734
esv2350302 CNV deletion 18987734
esv2428031 CNV deletion 19546169
esv2567946 CNV deletion 19546169
esv2663091 CNV deletion 23128226
esv2667449 CNV deletion 23128226
esv2721102 CNV deletion 23290073
esv2721103 CNV deletion 23290073
esv2721104 CNV deletion 23290073
esv2721105 CNV deletion 23290073
esv2721107 CNV deletion 23290073
esv2721108 CNV deletion 23290073
esv3022022 CNV deletion 24192839
esv3263 CNV loss 18987735
esv3304185 CNV mobile element insertion 20981092
esv3391091 CNV insertion 20981092
esv3440550 CNV insertion 20981092
esv3560503 CNV deletion 23714750
esv3560507 CNV deletion 23714750
esv3593311 CNV loss 21293372
esv3593313 CNV loss 21293372
esv3593314 CNV loss 21293372
esv3593317 CNV loss 21293372
esv4907 CNV loss 18987735
esv6815 CNV loss 19470904
esv999398 CNV deletion 20482838
nsv1072042 CNV deletion 25765185
nsv1114148 CNV deletion 24896259
nsv215317 CNV deletion 16902084
nsv428405 CNV loss 18775914
nsv473657 CNV novel sequence insertion 20440878
nsv475427 CNV novel sequence insertion 20440878
nsv821785 CNV loss 20364138
nsv834450 CNV gain 17160897
nsv954725 CNV deletion 24416366

Variation tolerance for CERS6 Gene

Residual Variation Intolerance Score: 37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CERS6 Gene

Human Gene Mutation Database (HGMD)
CERS6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CERS6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CERS6 Gene

Disorders for CERS6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CERS6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hereditary sensory and autonomic neuropathy type 1
  • hsan1
- elite association - COSMIC cancer census association via MalaCards
Search CERS6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CERS6

genes like me logo Genes that share disorders with CERS6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CERS6 Gene

Publications for CERS6 Gene

  1. Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region. (PMID: 26887952) Sassa T … Kihara A (The Journal of biological chemistry 2016) 3 4 54
  2. Kinetic characterization of mammalian ceramide synthases: determination of K(m) values towards sphinganine. (PMID: 17977534) Lahiri S … Futerman AH (FEBS letters 2007) 3 4 54
  3. A new functional motif in Hox domain-containing ceramide synthases: identification of a novel region flanking the Hox and TLC domains essential for activity. (PMID: 17609214) Mesika A … Futerman AH (The Journal of biological chemistry 2007) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for CERS6 Gene

  • Biorbyt antibodies for CERS6

Sources for CERS6 Gene