Gene Gene information from NCBI Gene database.
Entrez ID 91012
Gene name Ceramide synthase 5
Gene symbol CERS5
Synonyms (NCBI Gene)
LASS5Trh4
Chromosome 12
Chromosome location 12q13.12
Summary 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. Alternat
miRNA miRNA information provided by mirtarbase database.
108
miRTarBase ID miRNA Experiments Reference
MIRT042119 hsa-miR-484 CLASH 23622248
MIRT1963032 hsa-miR-3189-5p CLIP-seq
MIRT1963033 hsa-miR-4707-5p CLIP-seq
MIRT1963034 hsa-miR-4738-3p CLIP-seq
MIRT1963035 hsa-miR-4758-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006629 Process Lipid metabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615335 23749 ENSG00000139624
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5B7
Protein name Ceramide synthase 5 (CerS5) (LAG1 longevity assurance homolog 5) (Sphingoid base N-palmitoyltransferase CERS5) (EC 2.3.1.291) (Sphingosine N-acyltransferase CERS5) (EC 2.3.1.24)
Protein function Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) (PubMed:16951403, PubMed:18541923, PubMed:22144673, PubMed:22661289, PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 83 135 Homeodomain Domain
PF03798 TRAM_LAG1_CLN8 140 333 TLC domain Domain
Sequence
Sequence length 392
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs765182768 RCV005939125
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Coronary Artery Disease Stimulate 37298446
Heart Valve Diseases Associate 37298446
Hypertension Associate 37175507
Lupus Erythematosus Systemic Associate 30777133
Neoplasms Associate 38244710
Pulmonary Arterial Hypertension Associate 37176017
Stomach Neoplasms Associate 38244710