Gene Gene information from NCBI Gene database.
Entrez ID 64781
Gene name Ceramide kinase
Gene symbol CERK
Synonyms (NCBI Gene)
LK4dA59H18.2dA59H18.3hCERK
Chromosome 22
Chromosome location 22q13.31
Summary CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).
miRNA miRNA information provided by mirtarbase database.
458
miRTarBase ID miRNA Experiments Reference
MIRT022006 hsa-miR-128-3p Sequencing 20371350
MIRT027241 hsa-miR-101-3p Sequencing 20371350
MIRT029316 hsa-miR-26b-5p Microarray 19088304
MIRT040252 hsa-miR-615-3p CLASH 23622248
MIRT696955 hsa-miR-548a-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 10947957
GO:0001729 Function Ceramide kinase activity IBA
GO:0001729 Function Ceramide kinase activity IDA 11956206, 16269826, 19501188
GO:0001729 Function Ceramide kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610307 19256 ENSG00000100422
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TCT0
Protein name Ceramide kinase (hCERK) (EC 2.7.1.138) (Acylsphingosine kinase) (Lipid kinase 4) (LK4)
Protein function Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate (PubMed:11956206, PubMed:16269826, PubMed:19168031). Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesse
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00781 DAGK_cat 132 274 Diacylglycerol kinase catalytic domain Family
Tissue specificity TISSUE SPECIFICITY: High level expression in heart, brain, skeletal muscle, kidney and liver; moderate in peripheral blood leukocytes and thymus; very low in spleen, small intestine, placenta and lung. {ECO:0000269|PubMed:11956206}.
Sequence
MGATGAAEPLQSVLWVKQQRCAVSLEPARALLRWWRSPGPGAGAPGADACSVPVSEIIAV
EETDVHGKHQGSGKWQKMEKPYAFTVHCVKRARRHRWKWAQVTFWCPEEQLCHLWLQTLR
EMLEKLTSRPKHLLVFINPFGGKGQGKRIYERKVAPLFTLASITTDIIVTEHANQAKETL
YEINIDKYDGIVCVGGDGMFSEVLHGLIGRTQRSAGVDQNHPRAVLVPSSLRIGIIPAGS
TDCVCYSTVGTSDAETSALHIVVGDSLAMDVSSV
HHNSTLLRYSVSLLGYGFYGDIIKDS
EKKRWLGLARYDFSGLKTFLSHHCYEGTVSFLPAQHTVGSPRDRKPCRAGCFVCRQSKQQ
LEEEQKKALYGLEAAEDVEEWQVVCGKFLAINATNMSCACRRSPRGLSPAAHLGDGSSDL
ILIRKCSRFNFLRFLIRHTNQQDQFDFTFVEVYRVKKFQFTSKHMEDEDSDLKEGGKKRF
GHICSSHPSCCCTVSNSSWNCDGEVLHSPAIEVRVHCQLVRLFARGIEENPKPDSHS
Sequence length 537
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sphingolipid metabolism
Metabolic pathways
  Glycosphingolipid metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30222969
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 32661301 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19125296, 25164007
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19125296, 25134723, 36309544, 36410675 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 29709917
★☆☆☆☆
Found in Text Mining only
Kaposi Sarcoma Kaposi Sarcoma BEFREE 29345349
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19125296, 25164007
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 25164007
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25164007
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 19903244, 22579669
★☆☆☆☆
Found in Text Mining only