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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CERK Gene

protein-coding   GIFtS: 62
GCID: GC22M047080

Ceramide Kinase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ceramide Kinase1 2     dA59H18.22
Acylsphingosine Kinase2 3     dA59H18.32
Lipid Kinase 42 3     Lipid Kinase LK42
LK42 3     EC 2.7.1.1383
hCERK2 3     KIAA16463

External Ids:    HGNC: 192561   Entrez Gene: 647812   Ensembl: ENSG000001004227   OMIM: 6103075   UniProtKB: Q8TCT03   

Export aliases for CERK gene to outside databases

Previous GC identifers: GC22M043648 GC22M045292 GC22M045400 GC22M030025


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and retinal degeneration, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include diacylglycerol kinase activity and phospholipid binding. An important paralog of this gene is CERKL.

UniProtKB/Swiss-Prot: CERK1_HUMAN, Q8TCT0
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

summary for CERK Gene:
Ceramide kinase catalyzes the addition of a phosphate group to ceramide, generating ceramide-1-phosphate.

Gene Wiki entry for CERK Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CERK gene promoter:
         c-Fos   Pax-5   AP-1   ATF-2   Nkx2-5   c-Jun   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCERK promoter sequence
   Search SABiosciences Chromatin IP Primers for CERK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CERK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13.31

CERK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CERK gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M047080:  view genomic region     (about GC identifiers)

Start:
47,080,307 bp from pter      End:
47,134,158 bp from pter
Size:
53,852 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CERK1_HUMAN, Q8TCT0 (See protein sequence)
Recommended Name: Ceramide kinase  
Size: 537 amino acids; 59977 Da
Cofactor: Calcium
Cofactor: Magnesium
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein
Secondary accessions: A0JNT4 A8K611 Q9BYB3 Q9UGE5

Explore the universe of human proteins at neXtProt for CERK: NX_Q8TCT0

Explore proteomics data for CERK at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TCT0

  • CERK Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CERK Protein Expression
    REFSEQ proteins: NP_073603.2  
    ENSEMBL proteins: 
     ENSP00000216264   ENSP00000400859   ENSP00000438659  
    Reactome Protein details: Q8TCT0
    Human Recombinant Protein Products for CERK: 
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    Novus Biologicals CERK Lysates
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for CERK 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IDA11956206

    CERK for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001206 Diacylglycerol_kinase_cat_dom
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q8TCT0

    ProtoNet protein and cluster: Q8TCT0

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: CERK1_HUMAN, Q8TCT0
    Similarity: Contains 1 DAGKc domain


    CERK for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CERK1_HUMAN, Q8TCT0
    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
    Catalytic activity: ATP + ceramide = ADP + ceramide 1-phosphate
    Enzyme regulation: Inhibited by sulfatide
    Biophysicochemical properties: pH dependence: Optimum pH is 6.0-7.5;

         Enzyme Number (IUBMB): EC 2.7.1.1381

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA10947957
    GO:0001729ceramide kinase activity IDA11956206
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IEA--
    GO:0005524ATP binding IEA--
         
    CERK for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CERK:
     Increased apoptosis  Increased cell death in HCC-19  Increased telomerase activity 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cerk):
     behavior/neurological  digestive/alimentary  growth/size  hematopoietic system  immune system 
     mortality/aging 

    CERK for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CERK: Cerktm1Fbor Cerktm1Yiga

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CERK 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CERK 
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    SwitchGear 3'UTR luciferase reporter plasmidCERK 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CERK About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3TNF-Induced Apoptosis Implicating Sphingolipids
    TNF-Induced Apoptosis Implicating Sphingolipids0.32
    Ceramide Pathway0.32
    4Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CERK
        Ceramide Pathway
    TNF-Induced Apoptosis Implicating Sphingolipids

    2 BioSystems Pathways for CERK
        Integrated Breast Cancer Pathway
    Sphingolipid Metabolism


    4        Reactome Pathways for CERK
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins


    1         Kegg Pathway  (Kegg details for CERK):
        Sphingolipid metabolism


    CERK for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CERK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/19 Interacting proteins for CERK (Q8TCT03 ENSP000002162644) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP6R1Q9UPN73I2D: score=5 
    ACER1ENSP000003014524STRING: ENSP00000301452
    ACER2ENSP000003426094STRING: ENSP00000342609
    ASAH1ENSP000003711524STRING: ENSP00000371152
    ASAH2ENSP000003788974STRING: ENSP00000378897
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006672ceramide metabolic process TAS11956206
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0008152metabolic process ----

    CERK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CERK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CERK available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (5Z)-7-OxozeaenolPotent and selective TAK1 MAPKKK inhibitor[66018-38-0]
    GSK 650394Serum- and glucocorticoid-regulated kinase (SGK) inhibitor[890842-28-1]
    IPA 3Group I p21-activated kinase (PAK) inhibitor[42521-82-4]
    CGP 57380Selective inhibitor of Mnk1[522629-08-9]
    AZ 3146Potent and selective monopolar spindle 1 (Mps1) kinase inhibitor[1124329-14-1]

    10/39 HMDB Compounds for CERK (see all 39)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    Cer(d18:0/12:0) ----
    Cer(d18:0/14:0) ----
    Cer(d18:0/16:0) ----
    Cer(d18:0/18:0) ----
    Cer(d18:0/18:1(11Z)) ----
    Cer(d18:0/18:1(9Z)) ----
    Cer(d18:0/20:0) ----

    9 Novoseek inferred chemical compound relationships for CERK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceramide 1-phosphate 98.6 85 12855693 (4), 19101626 (3), 16488390 (3), 17392267 (3) (see all 32)
    ceramide 92.8 196 12855693 (6), 12927832 (6), 18206978 (5), 19101626 (4) (see all 62)
    sphingosine 79.9 10 16170208 (2), 15585321 (2), 13129923 (1), 17351295 (1) (see all 8)
    c2ceramide 75.7 3 17338639 (2)
    ceramides 73.2 7 19101626 (2), 18831956 (2), 16170208 (1), 12927832 (1)
    lipid 48.2 19 12927832 (3), 15899891 (2), 17351295 (1), 15464297 (1) (see all 10)
    arachidonic acid 31.1 7 12855693 (4), 19101626 (2), 14676210 (1)
    calcium 20.4 12 8245978 (2), 18156590 (2), 14769792 (2), 16203736 (1) (see all 6)
    atp 12.4 1 18206978 (1)

    Search CenterWatch for drugs/clinical trials and news about CERK / CERK1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CERK gene (2 alternative transcripts): 
    NM_182661.1  NM_022766.5  

    Unigene Cluster for CERK:

    Ceramide kinase
    Hs.200668  [show with all ESTs]
    Unigene Representative Sequence: NM_022766
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216264(uc010hae.3 uc003bia.3) ENST00000443629 ENST00000471929
    ENST00000460254 ENST00000541677
    miRNA
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    Additional mRNA sequence: 

    AB051433.1 AB079066.1 AJ457828.1 AK025083.1 AK026892.1 AK291476.1 AL137600.1 AL832794.1 
    AY927550.1 BC004278.1 BC008382.1 BC067255.1 BC108712.1 BC126940.1 CR456404.1 CR457365.1 

    11 DOTS entries:

    DT.441741  DT.99929377  DT.95198581  DT.95211276  DT.99976536  DT.100784669  DT.95268094  DT.97785411 
    DT.99928430  DT.120647370  DT.91699418 

    24/189 AceView cDNA sequences (see all 189):

    AI299775 AL137600 AI610717 H55199 AI679433 BM479389 AI694771 AK026892 
    CA443049 BM737702 BC004278 AA682589 CR597559 BX952302 CD631565 NM_182661 
    H55443 BQ063738 AA598921 AI131493 NM_022766 BM846741 CR609594 BQ230294 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CERK expression in normal human tissues (normalized intensities)      CERK embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGTTCCT
    CERK Expression
    About this image


    CERK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Annulus Fibrosus Cells Thoracic Intervertebral Disc
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
             ganglion/cranial   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See CERK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CERK

    SOURCE GeneReport for Unigene cluster: Hs.200668

    UniProtKB/Swiss-Prot: CERK1_HUMAN, Q8TCT0
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CERK gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cerk1 , 5 ceramide kinase1, 5 81.41(n)1
    84.88(a)1
      15 (40.52 cM)5
    2237531  NM_145475.41  NP_663450.31 
     861391285 
    chicken
    (Gallus gallus)
    Aves CERK1 ceramide kinase 67.51(n)
    67.9(a)
      425523  NM_001031340.1  NP_001026511.1 
    lizard
    (Anolis carolinensis)
    Reptilia CERK6
    --
    --
    62(a)
    46(a)
    1 ↔ 1
    possible ortholog
    5(72547773-72595744)
    2(89682343-89702567)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.96452 Xenopus laevis transcribed sequence with weak similarity more 70.98(n)    BJ615281.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cerk1 ceramide kinase 62.57(n)
    59.82(a)
      558496  NM_001105586.1  NP_001099056.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cerk1 Ceramide kinase 46.82(n)
    40.92(a)
      40640  NM_141273.2  NP_649530.2 
    worm
    (Caenorhabditis elegans)
    Secernentea T10B11.21 Protein T10B11.2 43.89(n)
    35.16(a)
      172423  NM_059576.3  NP_491977.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB46
    LCB56
    Sphingoid long-chain base kinase, responsible for ...
    Minor sphingoid long-chain base kinase, paralog of...
    13(a)
    13(a)
    many ↔ many
    many ↔ many
    XV(652010-653884)
    XII(665844-667907)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G512901 diacylglycerol kinase family protein 47.23(n)
    40.48(a)
      835203  NM_124508.3  NP_568756.2 


    ENSEMBL Gene Tree for CERK (if available)
    TreeFam Gene Tree for CERK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CERK gene
    CERKL2  SPHK12  SPHK22  AGK2  

    CERK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1594 SNPs in CERK are shown (see all 1594)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs341020161,2
    C--30059997(+) ACTTT-/T/TG  
            
    GTGTG
    1 -- int11CSA 2
    rs1837573521,2
    --47079839(+) AGGCAA/GGAGAA 1 -- ds50010--------
    rs1401686771,2
    --47079848(+) AATGGC/TGTGAA 1 -- ds50010--------
    rs48235711,2
    C,A--47079863(+) GGAGGC/TGAGCT 1 -- ds50010--------
    rs1468355371,2
    --47079876(+) CAGTGA/GGCCAA 1 -- ds50010--------
    rs1406602511,2
    --47079904(+) ATTGCA/GCCACT 1 -- ds50010--------
    rs1419695341,2
    --47079941(+) AACTCC/TGTCTC 1 -- ds50010--------
    rs1126318781,2
    C,F--47080011(+) AACACG/ATTTCC 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1884785151,2
    --47080017(+) TTTCCC/TTTGGA 1 -- ds50010--------
    rs8017241,2
    C,F,O,A,H--47080026(-) TGCTCT/CTTATC 1 -- ds500122Minor allele frequency- C:0.42NS EA WA NA CSA 2348

    HapMap Linkage Disequilibrium report for CERK (47080307 - 47134158 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for CERK (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724452CNV Deletion23290073
    esv2724451CNV Deletion23290073
    esv2724453CNV Deletion23290073
    esv2022578CNV Deletion18987734
    esv2673353CNV Deletion23128226
    nsv915377CNV Loss21882294
    dgv5020n71CNV Loss21882294
    nsv915373CNV Loss21882294
    dgv5017n71CNV Loss21882294
    nsv191421CNV Loss16902084

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610307    OMIM disorders: --

    10 diseases for CERK:    About MalaCards
    retinitis pigmentosa    retinal degeneration    lung adenocarcinoma    retinitis
    neuroblastoma    adenocarcinoma    prostate cancer    prostatitis
    breast cancer    leukemia


    CERK for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for CERK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 55.3 1 16581028 (1)
    inflammation 3.38 1 18691014 (1)

    Genetic Association Database (GAD): CERK
    Human Genome Epidemiology (HuGE) Navigator: CERK (2 documents)

    Export disorders for CERK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CERK gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with CERK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ceramide kinase, a novel lipid kinase. Molecular cloning and functional characterization. (PubMed id 11956206)1, 2, 3 Sugiura M....Kohama T. (2002)
    2. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)1, 2, 3 Hirosawa M....Ohara O. (2001)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    7. Substrate specificity of human ceramide kinase. (PubMed id 16170208)1, 9 Wijesinghe D.S....Chalfant C.E. (2005)
    8. Subcellular localization of ceramide kinase and ceram ide kinase-like protein requires interplay of their Pleckstrin Homology domain- containing N-terminal regions together with C-terminal domains. (PubMed id 19501188)1, 9 Rovina P....Bornancin F. (2009)
    9. The interaction between the pleckstrin homology domain of ceramide kinase and phosphatidylinositol 4,5-bisphosphate regulates the plasma membrane targeting and ceramide 1-phosphate levels. (PubMed id 16488390)1, 9 Kim T.J....Igarashi Y. (2006)
    10. Ceramide kinase promotes Ca2+ signaling near IgG-opsonized targets and enhances phagolysosomal fusion in COS-1 cells. (PubMed id 18156590)1, 9 Hinkovska-Galcheva V....Boxer L.A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64781 HGNC: 19256 AceView: CERK Ensembl:ENSG00000100422 euGenes: HUgn64781
    ECgene: CERK Kegg: 64781 H-InvDB: CERK

    (According to HUGE)
    About This Section
    HUGE: KIAA1646

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CERK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CERK gene:
    Search GeneIP for patents involving CERK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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