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Aliases for CERK Gene

Aliases for CERK Gene

  • Ceramide Kinase 2 3 3 5
  • Acylsphingosine Kinase 3 4
  • Lipid Kinase 4 3 4
  • HCERK 3 4
  • LK4 3 4
  • Lipid Kinase LK4 3
  • EC 2.7.1.138 4
  • DA59H18.2 3
  • DA59H18.3 3
  • KIAA1646 4

External Ids for CERK Gene

Previous GeneCards Identifiers for CERK Gene

  • GC22M043648
  • GC22M045292
  • GC22M045400
  • GC22M047080
  • GC22M030025

Summaries for CERK Gene

Entrez Gene Summary for CERK Gene

  • 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]).[supplied by OMIM, Mar 2008]

GeneCards Summary for CERK Gene

CERK (Ceramide Kinase) is a Protein Coding gene. Diseases associated with CERK include Retinitis Pigmentosa 26 and Retinitis Pigmentosa. Among its related pathways are Integrated Breast Cancer Pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and diacylglycerol kinase activity. An important paralog of this gene is CERKL.

UniProtKB/Swiss-Prot for CERK Gene

  • Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate. Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines. Binds phosphoinositides.

Tocris Summary for CERK Gene

Gene Wiki entry for CERK Gene

Additional gene information for CERK Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CERK Gene

Genomics for CERK Gene

GeneHancer (GH) Regulatory Elements for CERK Gene

Promoters and enhancers for CERK 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
GH22J046733 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 660.7 -1.2 -1239 11.5 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CERK LOC105373077 ENSG00000260708 GC22M046764 GC22P046685 GC22P046684 GC22P046655
GH22J046648 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +88.2 88214 2.4 HDAC1 PKNOX1 ATF1 FOXA2 SIN3A RAD21 YY1 ZNF366 ATF7 CREM GC22M046648 CERK LOC642648 ENSG00000234869 CELSR1 GRAMD4 PPARA TTC38 GC22P046654
GH22J046573 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.2 +159.9 159929 10.3 PKNOX1 FOXA2 ARID4B FEZF1 ZNF48 YY1 SLC30A9 GLIS2 ZNF143 FOS GRAMD4 ENSG00000234869 CERK GC22M046648
GH22J046799 Enhancer 1.2 ENCODE dbSUPER 12.1 -60.5 -60528 1.1 MLX ARID4B DMAP1 ZNF2 ZNF48 YY1 SLC30A9 ZNF143 NFKBIZ RXRA TBC1D22A ENSG00000260708 CERK GC22P046799 GC22P046798 GC22P046797 GC22P046796 GC22P046815
GH22J046748 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.2 -13.5 -13538 7.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ENSG00000260708 TTC38 TBC1D22A CERK GRAMD4 TRMU GC22M046764 GC22P046655
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CERK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CERK gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • c-Fos
  • Nkx2-5
  • GATA-1
  • Pax-5

Genomic Locations for CERK Gene

Genomic Locations for CERK Gene
chr22:46,684,410-46,738,261
(GRCh38/hg38)
Size:
53,852 bases
Orientation:
Minus strand
chr22:47,080,307-47,134,158
(GRCh37/hg19)
Size:
53,852 bases
Orientation:
Minus strand

Genomic View for CERK Gene

Genes around CERK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CERK Gene

Proteins for CERK Gene

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

    Protein Symbol:
    Q8TCT0-CERK1_HUMAN
    Recommended name:
    Ceramide kinase
    Protein Accession:
    Q8TCT0
    Secondary Accessions:
    • A0JNT4
    • A8K611
    • Q6NX59
    • Q9BYB3
    • Q9UGE5

    Protein attributes for CERK Gene

    Size:
    537 amino acids
    Molecular mass:
    59977 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CERK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CERK Gene

Post-translational modifications for CERK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CERK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CERK Gene

Domains & Families for CERK Gene

Gene Families for CERK Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CERK Gene

Suggested Antigen Peptide Sequences for CERK Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CERK: view

No data available for UniProtKB/Swiss-Prot for CERK Gene

Function for CERK Gene

Molecular function for CERK Gene

UniProtKB/Swiss-Prot Function:
Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate. Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines. Binds phosphoinositides.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + ceramide = ADP + ceramide 1-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by sulfatide.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 6.0-7.5.;

Enzyme Numbers (IUBMB) for CERK Gene

Phenotypes From GWAS Catalog for CERK Gene

Gene Ontology (GO) - Molecular Function for CERK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 10947957
GO:0001729 ceramide kinase activity TAS --
GO:0003951 NAD+ kinase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CERK: view
genes like me logo Genes that share phenotypes with CERK: view

Animal Models for CERK Gene

MGI Knock Outs for CERK:

Animal Model Products

  • Taconic Biosciences Mouse Models for CERK

Clone Products

  • Addgene plasmids for CERK

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

Localization for CERK Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERK Gene

Cytoplasm. Membrane; Peripheral 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 CERK gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
nucleus 2
cytosol 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CERK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA 11956206
genes like me logo Genes that share ontologies with CERK: view

Pathways & Interactions for CERK Gene

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

Pathways by source for CERK Gene

Gene Ontology (GO) - Biological Process for CERK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process TAS 11956206
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0046834 lipid phosphorylation IEA --
genes like me logo Genes that share ontologies with CERK: view

No data available for SIGNOR curated interactions for CERK Gene

Drugs & Compounds for CERK Gene

(8) Drugs for CERK Gene - From: ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
NVP 231 Pharma CerK inhibitor 0
Necrostatin-1 Pharma RIP1 inhibitor, RIPK1 inhibitor; inhibits necroptosis 0

(43) Additional Compounds for CERK Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Cer(d18:0/12:0)
  • C12:0 DHCer
  • N-(Dodecanoyl)-sphinganine
  • N-Dodecanoyldihydrosphingosine
  • N-Lauroyldihydrosphingosine
  • N-Lauroylsphinganine
Cer(d18:0/14:0)
  • C14DH Cer
  • DHC-a 18:0/14:0
  • N-(Myristoyl)-dihydroceramide
  • N-(Tetradecanoyl)-dihydroceramide
  • N-(Tetradecanoyl)-sphinganine
Cer(d18:0/16:0)
  • C16DH Cer
  • DHC-a 18:0/16:0
  • N-(Hexadecanoyl)-dihydroceramide
  • N-(Hexadecanoyl)-sphinganine
  • N-(Palmitoyl)-dihydroceramide
Cer(d18:0/18:0)
  • C18DH Cer
  • DHC-a 18:0/18:0
  • N-(Octadecanoyl)-dihydroceramide
  • N-(Octadecanoyl)-sphinganine
  • N-(Octodecanoyl)-sphinganine

(5) Tocris Compounds for CERK Gene

Compound Action Cas Number
MRT 68601 hydrochloride Potent TBK1 inhibitor
MRT 68921 dihydrochloride Potent ULK inhibitor; inhibits autophagy
Necrostatin-1 RIPK1 inhibitor; inhibits necroptosis 4311-88-0
TNP Inhibitor of IP6K; also inhibits IP3K 519178-28-0
XL 413 hydrochloride Potent and selective Cdc7 inhibitor 1169562-71-3

(1) ApexBio Compounds for CERK Gene

Compound Action Cas Number
NVP 231 CerK inhibitor 362003-83-6
genes like me logo Genes that share compounds with CERK: view

Drug Products

Transcripts for CERK Gene

mRNA/cDNA for CERK Gene

Unigene Clusters for CERK Gene

Ceramide kinase:
Representative Sequences:

Clone Products

  • Addgene plasmids for CERK

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

No ASD Table

Relevant External Links for CERK Gene

GeneLoc Exon Structure for
CERK
ECgene alternative splicing isoforms for
CERK

Expression for CERK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CERK Gene

This gene is overexpressed in Urine (41.5) and Lung (24.4).

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



Protein tissue co-expression partners for CERK Gene

NURSA nuclear receptor signaling pathways regulating expression of CERK Gene:

CERK

SOURCE GeneReport for Unigene cluster for CERK Gene:

Hs.200668

mRNA Expression by UniProt/SwissProt for CERK Gene:

Q8TCT0-CERK1_HUMAN
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.

Evidence on tissue expression from TISSUES for CERK Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with CERK: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CERK Gene

Orthologs for CERK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CERK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CERK 34 33
  • 99.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CERK 34 33
  • 82.94 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cerk 33
  • 82.17 (n)
mouse
(Mus musculus)
Mammalia Cerk 16 34 33
  • 81.41 (n)
cow
(Bos Taurus)
Mammalia CERK 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CERK 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CERK 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CERK 34 33
  • 67.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CERK 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487080 33
  • 62.95 (n)
Str.10087 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9645 33
zebrafish
(Danio rerio)
Actinopterygii cerk 34 33
  • 62.95 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002932 33
  • 48.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cerk 34 33
  • 47.05 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T10B11.2 34 33
  • 44.44 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB4 34
  • 13 (a)
ManyToMany
LCB5 34
  • 13 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G51290 33
  • 47.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for CERK 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)
  • 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 CERK Gene

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

Paralogs for CERK Gene

Paralogs for CERK Gene

genes like me logo Genes that share paralogs with CERK: view

Variants for CERK Gene

Sequence variations from dbSNP and Humsavar for CERK Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000033302 -- 46,705,994(-) T/A intron_variant
rs1000052802 -- 46,694,670(-) T/C intron_variant
rs1000111192 -- 46,706,249(-) AGA/A intron_variant
rs1000124360 -- 46,688,078(-) C/T intron_variant
rs1000150390 -- 46,728,761(-) G/C intron_variant

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

Variant ID Type Subtype PubMed ID
dgv2469n106 OTHER inversion 24896259
esv2022578 CNV deletion 18987734
esv2673353 CNV deletion 23128226
esv2724451 CNV deletion 23290073
esv2724452 CNV deletion 23290073
esv2724453 CNV deletion 23290073
esv3558271 CNV deletion 23714750
esv3647960 CNV loss 21293372
esv3647961 CNV loss 21293372
esv3647962 CNV loss 21293372
nsv1060721 CNV gain 25217958
nsv1122058 CNV deletion 24896259
nsv1123607 CNV deletion 24896259
nsv1152661 OTHER inversion 26484159
nsv191421 CNV deletion 16902084
nsv589137 CNV gain 21841781
nsv829281 CNV gain 20364138
nsv829293 CNV gain 20364138
nsv834227 CNV loss 17160897
nsv955179 CNV deletion 24416366

Variation tolerance for CERK Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.08; 60.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CERK Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CERK Gene

MalaCards: The human disease database

(2) MalaCards diseases for CERK Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 26
  • rp26
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search CERK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CERK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CERK: view

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

Publications for CERK Gene

  1. A lipid binding domain in sphingosine kinase 2. (PMID: 19168031) Don AS … Rosen H (Biochemical and biophysical research communications 2009) 2 3 4 22 58
  2. The leucine 10 residue in the pleckstrin homology domain of ceramide kinase is crucial for its catalytic activity. (PMID: 16081073) Kim TJ … Igarashi Y (FEBS letters 2005) 3 4 22 58
  3. Ceramide kinase, a novel lipid kinase. Molecular cloning and functional characterization. (PMID: 11956206) Sugiura M … Kohama T (The Journal of biological chemistry 2002) 2 3 4 58
  4. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for CERK Gene

  • Addgene plasmids for CERK

Sources for CERK Gene

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