Aliases for CERS4 Gene

Aliases for CERS4 Gene

  • Ceramide Synthase 4 2 3 4 5
  • Sphingosine N-Acyltransferase CERS4 3 4
  • LAG1 Longevity Assurance Homolog 4 3 4
  • LAG1 Homolog, Ceramide Synthase 4 2 3
  • LASS4 3 4
  • Trh1 2 3
  • LAG1 Longevity Assurance Homolog 4 (S. Cerevisiae) 2
  • EC 2.3.1.24 4
  • EC 2.3.1.- 4
  • FLJ12089 2
  • CERS4 5
  • CerS4 4

External Ids for CERS4 Gene

Previous HGNC Symbols for CERS4 Gene

  • LASS4

Previous GeneCards Identifiers for CERS4 Gene

  • GC19P008276

Summaries for CERS4 Gene

GeneCards Summary for CERS4 Gene

CERS4 (Ceramide Synthase 4) is a Protein Coding gene. Diseases associated with CERS4 include Fetal Akinesia Deformation Sequence 1. Among its related pathways are Sphingolipid signaling pathway and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is CERS2.

UniProtKB/Swiss-Prot Summary for CERS4 Gene

  • Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward long and very-long chains (C18:0-C22:0) as acyl donor.

Additional gene information for CERS4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CERS4 Gene

Genomics for CERS4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CERS4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CERS4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CERS4

Genomic Locations for CERS4 Gene

Genomic Locations for CERS4 Gene
chr19:8,206,736-8,262,433
(GRCh38/hg38)
Size:
55,698 bases
Orientation:
Plus strand
chr19:8,271,620-8,327,305
(GRCh37/hg19)
Size:
55,686 bases
Orientation:
Plus strand

Genomic View for CERS4 Gene

Genes around CERS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CERS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CERS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CERS4 Gene

Proteins for CERS4 Gene

  • Protein details for CERS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HA82-CERS4_HUMAN
    Recommended name:
    Ceramide synthase 4
    Protein Accession:
    Q9HA82
    Secondary Accessions:
    • D6W665

    Protein attributes for CERS4 Gene

    Size:
    394 amino acids
    Molecular mass:
    46399 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CERS4 Gene

Post-translational modifications for CERS4 Gene

No data available for DME Specific Peptides for CERS4 Gene

Domains & Families for CERS4 Gene

Gene Families for CERS4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CERS4 Gene

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

Suggested Antigen Peptide Sequences for CERS4 Gene

GenScript: Design optimal peptide antigens:
  • LAG1 longevity assurance homolog 4 (LASS4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HA82

UniProtKB/Swiss-Prot:

CERS4_HUMAN :
  • The last loop motif confers selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) to behenoyl-CoA (docosanoyl-CoA; C22:0-CoA) as acyl donors.
Domain:
  • The last loop motif confers selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) to behenoyl-CoA (docosanoyl-CoA; C22:0-CoA) as acyl donors.
genes like me logo Genes that share domains with CERS4: view

Function for CERS4 Gene

Molecular function for CERS4 Gene

UniProtKB/Swiss-Prot Function:
Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward long and very-long chains (C18:0-C22:0) as acyl donor.
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={ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:23530041, ECO:0000269|PubMed:29632068};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + sphinganine = CoA + H(+) + N-eicosanoylsphinganine; Xref=Rhea:RHEA:36555, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57817, ChEBI:CHEBI:67027; Evidence={ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:26887952};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=docosanoyl-CoA + sphinganine = CoA + H(+) + N-docosanoylsphinganine; Xref=Rhea:RHEA:36535, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65059, ChEBI:CHEBI:67021; Evidence={ECO:0000250|UniProtKB:Q9D6J1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=sphinganine + tetracosanoyl-CoA = CoA + H(+) + N-tetracosanoylsphinganine; Xref=Rhea:RHEA:33591, ChEBI:CHEBI:15378, ChEBI:CHEBI:52961, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65052; Evidence={ECO:0000250|UniProtKB:Q9D6J1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexacosanoyl-CoA + sphinganine = CoA + H(+) + N-hexacosanoylsphinganine; Xref=Rhea:RHEA:33351, ChEBI:CHEBI:15378, ChEBI:CHEBI:52962, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:64868; Evidence={ECO:0000250|UniProtKB:Q9D6J1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an acyl-CoA + sphing-4-enine = an N-acylsphing-4-enine + CoA + H(+); Xref=Rhea:RHEA:23768, ChEBI:CHEBI:15378, ChEBI:CHEBI:52639, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:58342; EC=2.3.1.24; Evidence={ECO:0000250|UniProtKB:Q9D6J1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=octadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N-octadecanoylsphing-4-enine; Xref=Rhea:RHEA:36691, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57756, ChEBI:CHEBI:72961; Evidence={ECO:0000250|UniProtKB:Q9D6J1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecasphinganine + octadecanoyl-CoA = CoA + H(+) + N-octadecanoylhexadecasphinganine; Xref=Rhea:RHEA:43044, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:71009, ChEBI:CHEBI:82811; Evidence={ECO:0000269|PubMed:23530041};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.8 uM for sphinganine (with octadecanoyl-CoA as substrate) {ECO:0000269|PubMed:17977534}; KM=1.8 uM for sphinganine (with eicosanoyl-CoA as substrate) {ECO:0000269|PubMed:17977534};

Enzyme Numbers (IUBMB) for CERS4 Gene

Phenotypes From GWAS Catalog for CERS4 Gene

Gene Ontology (GO) - Molecular Function for CERS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0016410 N-acyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0050291 sphingosine N-acyltransferase activity IEA,IDA 17977534
genes like me logo Genes that share ontologies with CERS4: view
genes like me logo Genes that share phenotypes with CERS4: view

Animal Models for CERS4 Gene

MGI Knock Outs for CERS4:

Animal Model Products

CRISPR Products

miRNA for CERS4 Gene

miRTarBase miRNAs that target CERS4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS4

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CERS4 Gene

Localization for CERS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERS4 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 CERS4 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
mitochondrion 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CERS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CERS4: view

Pathways & Interactions for CERS4 Gene

genes like me logo Genes that share pathways with CERS4: view

Pathways by source for CERS4 Gene

UniProtKB/Swiss-Prot Q9HA82-CERS4_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for CERS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0046513 ceramide biosynthetic process IDA 17977534
genes like me logo Genes that share ontologies with CERS4: view

No data available for SIGNOR curated interactions for CERS4 Gene

Drugs & Compounds for CERS4 Gene

(3) Drugs for CERS4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
Coenzyme A Investigational Nutra 0
sphinganine Pharma 0
genes like me logo Genes that share compounds with CERS4: view

Transcripts for CERS4 Gene

mRNA/cDNA for CERS4 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
16 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 CERS4

Alternative Splicing Database (ASD) splice patterns (SP) for CERS4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - - - -
SP2: - - - - - -
SP3:
SP4: - - - - -
SP5: - - - - -
SP6: - - - - - - - - -
SP7: - - - - -

Relevant External Links for CERS4 Gene

GeneLoc Exon Structure for
CERS4

Expression for CERS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CERS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CERS4 Gene

This gene is overexpressed in Frontal cortex (14.6), Retina (14.3), and Liver (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CERS4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CERS4

SOURCE GeneReport for Unigene cluster for CERS4 Gene:

Hs.515111

Evidence on tissue expression from TISSUES for CERS4 Gene

  • Liver(4.5)
  • Lung(4.4)
  • Skin(2.5)
  • Nervous system(2.4)
  • Pancreas(2.3)
  • Kidney(2.3)
  • Thyroid gland(2.3)
  • Intestine(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with CERS4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CERS4 Gene

Orthologs for CERS4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CERS4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LASS4 30
  • 99.07 (n)
CERS4 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CERS4 30 31
  • 81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CERS4 30 31
  • 78.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cers4 30
  • 77.27 (n)
Mouse
(Mus musculus)
Mammalia Cers4 30 17 31
  • 76.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CERS4 31
  • 64 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 60 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
Chicken
(Gallus gallus)
Aves LOC420050 30
  • 60.29 (n)
-- 31
  • 51 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cers4 30
  • 53.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100330155 30
  • 56.77 (n)
CERS4 (1 of 2) 31
  • 45 (a)
OneToMany
cers4a 31
  • 44 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta schlank 31
  • 35 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hyl-1 31
  • 29 (a)
ManyToMany
hyl-2 31
  • 29 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAG1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 33 (a)
ManyToMany
Species where no ortholog for CERS4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CERS4 Gene

ENSEMBL:
Gene Tree for CERS4 (if available)
TreeFam:
Gene Tree for CERS4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CERS4: view image

Paralogs for CERS4 Gene

Paralogs for CERS4 Gene

(6) SIMAP similar genes for CERS4 Gene using alignment to 8 proteins:

  • CERS4_HUMAN
  • H0YKC9_HUMAN
  • H0YKR4_HUMAN
  • H0YKS3_HUMAN
  • H0YLY3_HUMAN
  • H0YMY6_HUMAN
  • H0YN04_HUMAN
  • H0YNR6_HUMAN
genes like me logo Genes that share paralogs with CERS4: view

Variants for CERS4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CERS4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
745004 Likely Benign: not provided 8,254,569(+) G/A MISSENSE_VARIANT
770654 Benign: not provided 8,256,678(+) C/T SYNONYMOUS_VARIANT
rs17159388 - p.Arg119Gln
rs17160348 - p.Ala353Val
rs17160349 - p.Arg379Gln

Additional dbSNP identifiers (rs#s) for CERS4 Gene

Structural Variations from Database of Genomic Variants (DGV) for CERS4 Gene

Variant ID Type Subtype PubMed ID
esv3555981 CNV deletion 23714750
nsv2401 CNV deletion 18451855
nsv469677 CNV loss 16826518
nsv472903 CNV novel sequence insertion 20440878
nsv953964 CNV deletion 24416366
nsv9664 CNV gain 18304495

Variation tolerance for CERS4 Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.38; 92.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CERS4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CERS4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CERS4 Gene

Disorders for CERS4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CERS4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fetal akinesia deformation sequence 1
  • fads1
- elite association - COSMIC cancer census association via MalaCards
Search CERS4 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CERS4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CERS4 Gene

Publications for CERS4 Gene

  1. Eleven residues determine the acyl chain specificity of ceramide synthases. (PMID: 29632068) Tidhar R … Futerman AH (The Journal of biological chemistry 2018) 3 4
  2. 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
  3. Kinetic characterization of mammalian ceramide synthases: determination of K(m) values towards sphinganine. (PMID: 17977534) Lahiri S … Futerman AH (FEBS letters 2007) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for CERS4 Gene

Sources for CERS4 Gene