This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] See more...

Aliases for CERS5 Gene

Aliases for CERS5 Gene

  • Ceramide Synthase 5 2 3 4 5
  • Sphingosine N-Acyltransferase CERS5 3 4
  • LAG1 Longevity Assurance Homolog 5 3 4
  • LAG1 Homolog, Ceramide Synthase 5 2 3
  • LASS5 3 4
  • LAG1 Longevity Assurance Homolog 5 (S. Cerevisiae) 2
  • TRAM Homolog 4 3
  • EC 2.3.1.24 4
  • EC 2.3.1.- 4
  • CerS5 4
  • Trh4 3

External Ids for CERS5 Gene

Previous HGNC Symbols for CERS5 Gene

  • LASS5

Previous GeneCards Identifiers for CERS5 Gene

  • GC12M050524

Summaries for CERS5 Gene

Entrez Gene Summary for CERS5 Gene

  • This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for CERS5 Gene

CERS5 (Ceramide Synthase 5) is a Protein Coding gene. Diseases associated with CERS5 include Plummer's Disease and 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 CERS6.

UniProtKB/Swiss-Prot Summary for CERS5 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:16951403, PubMed:18541923, PubMed:22144673, PubMed:22661289, PubMed:23530041, PubMed:26887952, PubMed:29632068). Can use other acyl donors, but with less efficiency (By similarity).

Additional gene information for CERS5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CERS5 Gene

Genomics for CERS5 Gene

GeneHancer (GH) Regulatory Elements for CERS5 Gene

Promoters and enhancers for CERS5 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 CERS5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CERS5

Genomic Locations for CERS5 Gene

Genomic Locations for CERS5 Gene
chr12:50,129,299-50,167,533
(GRCh38/hg38)
Size:
38,235 bases
Orientation:
Minus strand
chr12:50,523,575-50,561,288
(GRCh37/hg19)
Size:
37,714 bases
Orientation:
Minus strand

Genomic View for CERS5 Gene

Genes around CERS5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CERS5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CERS5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CERS5 Gene

Proteins for CERS5 Gene

  • Protein details for CERS5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5B7-CERS5_HUMAN
    Recommended name:
    Ceramide synthase 5
    Protein Accession:
    Q8N5B7
    Secondary Accessions:
    • B4DV54

    Protein attributes for CERS5 Gene

    Size:
    392 amino acids
    Molecular mass:
    45752 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CERS5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CERS5 Gene

Post-translational modifications for CERS5 Gene

  • Phosphorylated at the C-terminus by CK2.
  • Glycosylation at Asn26
  • Ubiquitination at Lys113 and Lys121
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CERS5 Gene

Domains & Families for CERS5 Gene

Gene Families for CERS5 Gene

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

Protein Domains for CERS5 Gene

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

Suggested Antigen Peptide Sequences for CERS5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59959, moderately similar to LAG1 longevity assurance homolog 5 (B4DQR7_HUMAN)
  • cDNA FLJ59438, highly similar to LAG1 longevity assurance homolog 5 (B4DV54_HUMAN)
  • LAG1 longevity assurance homolog 5 (LASS5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N5B7

UniProtKB/Swiss-Prot:

CERS5_HUMAN :
  • The last loop motif confers selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor.
Domain:
  • The last loop motif confers selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor.
genes like me logo Genes that share domains with CERS5: view

Function for CERS5 Gene

Molecular function for CERS5 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:16951403, PubMed:18541923, PubMed:22144673, PubMed:22661289, PubMed:23530041, PubMed:26887952, PubMed:29632068). Can use other acyl donors, but with less efficiency (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:16951403, ECO:0000269 PubMed:18541923, ECO:0000269 PubMed:22144673, ECO:0000269 PubMed:22661289, ECO:0000269 PubMed:23530041, ECO:0000269 PubMed:26887952, ECO:0000269 PubMed:29632068}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36540; Evidence={ECO:0000269 PubMed:16951403, ECO:0000269 PubMed:18541923, ECO:0000269 PubMed:22144673, ECO:0000269 PubMed:22661289, ECO:0000269 PubMed:23530041, ECO:0000269 PubMed:26887952, ECO:0000269 PubMed:29632068};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-hydroxyhexadecanoyl-CoA + sphinganine = CoA + H(+) + N-(2-hydroxyhexadecanoyl)-sphinganine; Xref=Rhea:RHEA:36647, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:67043, ChEBI:CHEBI:74115; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36648; 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 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=(9Z)-octadecenoyl-CoA + sphinganine = CoA + H(+) + N-(9Z-octadecenoyl)-sphinganine; Xref=Rhea:RHEA:36575, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:57817, ChEBI:CHEBI:74100; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36576; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:23769; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N-hexadecanoylsphing-4-enine; Xref=Rhea:RHEA:36687, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57756, ChEBI:CHEBI:72959; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36688; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by fumonisin B1.

Enzyme Numbers (IUBMB) for CERS5 Gene

Phenotypes From GWAS Catalog for CERS5 Gene

Gene Ontology (GO) - Molecular Function for CERS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0016740 transferase activity IEA --
GO:0050291 sphingosine N-acyltransferase activity IEA,IDA 16951403
genes like me logo Genes that share ontologies with CERS5: view
genes like me logo Genes that share phenotypes with CERS5: view

Animal Models for CERS5 Gene

MGI Knock Outs for CERS5:
  • Cers5 Cers5<tm2b(KOMP)Mbp>

Animal Model Products

CRISPR Products

miRNA for CERS5 Gene

miRTarBase miRNAs that target CERS5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS5

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CERS5 Gene

Localization for CERS5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERS5 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 CERS5 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
mitochondrion 2
nucleus 2
lysosome 2
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CERS5 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 CERS5: view

Pathways & Interactions for CERS5 Gene

genes like me logo Genes that share pathways with CERS5: view

Pathways by source for CERS5 Gene

UniProtKB/Swiss-Prot Q8N5B7-CERS5_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for CERS5 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 16951403
genes like me logo Genes that share ontologies with CERS5: view

No data available for SIGNOR curated interactions for CERS5 Gene

Drugs & Compounds for CERS5 Gene

(3) Drugs for CERS5 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

(109) Additional Compounds for CERS5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
genes like me logo Genes that share compounds with CERS5: view

Transcripts for CERS5 Gene

mRNA/cDNA for CERS5 Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
28 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 CERS5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CERS5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f ^ 10a · 10b ^ 11 ^ 12a · 12b ·
SP1: - - - - - - - - - -
SP2:
SP3: - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - - - - - -
SP6: - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - -
SP10: - -
SP11: - - - - - - - - -
SP12: - - - - - - - -
SP13: - - - - - - - - -
SP14:
SP15:
SP16: - - - - - - - - -
SP17: - - - - - - -
SP18: - - - - - - - - - - -
SP19:
SP20:
SP21:

ExUns: 12c · 12d ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c · 16d ^ 17 ^ 18 ^ 19a · 19b · 19c
SP1: - - - - - -
SP2: - - - - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - - - -
SP16:
SP17:
SP18:
SP19:
SP20: - - -
SP21: -

Relevant External Links for CERS5 Gene

GeneLoc Exon Structure for
CERS5

Expression for CERS5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CERS5 Gene

Protein differential expression in normal tissues from HIPED for CERS5 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (55.8) and Heart (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CERS5 Gene



Protein tissue co-expression partners for CERS5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CERS5

SOURCE GeneReport for Unigene cluster for CERS5 Gene:

Hs.270525

Evidence on tissue expression from TISSUES for CERS5 Gene

  • Intestine(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with CERS5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CERS5 Gene

Orthologs for CERS5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CERS5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LASS5 30
  • 99.19 (n)
CERS5 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CERS5 31 30
  • 91.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CERS5 30
  • 90.46 (n)
LASS5 31
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cers5 17 31 30
  • 82.57 (n)
rat
(Rattus norvegicus)
Mammalia Cers5 30
  • 81.76 (n)
chicken
(Gallus gallus)
Aves CERS5 31 30
  • 74.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CERS5 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cers5 30
  • 68.94 (n)
Str.2155 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.17394 30
zebrafish
(Danio rerio)
Actinopterygii cers5 31 30
  • 66.93 (n)
OneToOne
-- 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3018 30
fruit fly
(Drosophila melanogaster)
Insecta schlank 31 30
  • 53.16 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001761 30
  • 50.73 (n)
worm
(Caenorhabditis elegans)
Secernentea hyl-1 31 30
  • 47.28 (n)
ManyToMany
hyl-2 31
  • 30 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons LOH2 30
  • 45.59 (n)
rice
(Oryza sativa)
Liliopsida Os03g0264000 30
  • 47.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9504 31
  • 40 (a)
OneToMany
Species where no ortholog for CERS5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 CERS5 Gene

ENSEMBL:
Gene Tree for CERS5 (if available)
TreeFam:
Gene Tree for CERS5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CERS5: view image

Paralogs for CERS5 Gene

Paralogs for CERS5 Gene

(14) SIMAP similar genes for CERS5 Gene using alignment to 13 proteins:

  • CERS5_HUMAN
  • B4DQR7_HUMAN
  • F8VQZ6_HUMAN
  • F8VSK7_HUMAN
  • F8VXY1_HUMAN
  • F8VY42_HUMAN
  • F8W1K4_HUMAN
  • F8W1N7_HUMAN
  • F8W1Z3_HUMAN
  • H0YHG4_HUMAN
  • H0YHK2_HUMAN
  • H0YI10_HUMAN
  • H0YIG1_HUMAN
genes like me logo Genes that share paralogs with CERS5: view

Variants for CERS5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CERS5 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
768542 Benign: not provided 50,167,136(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs7302981 - p.Cys75Arg

Additional dbSNP identifiers (rs#s) for CERS5 Gene

Structural Variations from Database of Genomic Variants (DGV) for CERS5 Gene

Variant ID Type Subtype PubMed ID
esv2672487 CNV deletion 23128226
esv2674859 CNV deletion 23128226
esv3629472 CNV loss 21293372
esv3629473 CNV loss 21293372
nsv1144622 CNV deletion 24896259
nsv558840 CNV loss 21841781

Variation tolerance for CERS5 Gene

Residual Variation Intolerance Score: 57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CERS5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CERS5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CERS5 Gene

Disorders for CERS5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CERS5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
plummer's disease
  • plummer disease
hereditary sensory and autonomic neuropathy type 1
  • hsan1
- elite association - COSMIC cancer census association via MalaCards
Search CERS5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CERS5

genes like me logo Genes that share disorders with CERS5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CERS5 Gene

Publications for CERS5 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 54
  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 54
  3. Necessary role for the Lag1p motif in (dihydro)ceramide synthase activity. (PMID: 16951403) Spassieva S … Obeid LM (The Journal of biological chemistry 2006) 3 4 54
  4. LASS5 is a bona fide dihydroceramide synthase that selectively utilizes palmitoyl-CoA as acyl donor. (PMID: 16100120) Lahiri S … Futerman AH (The Journal of biological chemistry 2005) 3 23 54
  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 54

Products for CERS5 Gene

Sources for CERS5 Gene