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

CERKL Gene

protein-coding   GIFtS: 50
GCID: GC02M182401

Ceramide Kinase-Like

(Previous name: retinitis pigmentosa 26 (autosomal recessive))
(Previous symbol: RP26)
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ceramide Kinase-Like1 2
RP261 2 5
Retinitis Pigmentosa 26 (Autosomal Recessive)1
Ceramide Kinase-Like Protein2

External Ids:    HGNC: 216991   Entrez Gene: 3752982   Ensembl: ENSG000001884527   OMIM: 6083815   UniProtKB: Q49MI33   
ORGUL members:         
NONCODE14:n407974      

Export aliases for CERKL gene to outside databases

Previous GC identifers: GC02M182229 GC02M182109 GC02M174258


(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 CERKL Gene:
This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis
pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein
does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative
regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa
characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in
multiple transcript variants encoding different isoforms and non-coding transcripts.(provided by RefSeq, May
2010)

GeneCards Summary for CERKL Gene: 
CERKL (ceramide kinase-like) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with CERKL include retinitis pigmentosa 26, and cerkl-related retinitis pigmentosa. GO annotations related to this gene include diacylglycerol kinase activity. An important paralog of this gene is SPHK1.

UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3
Function: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in
oxidative stress conditions




(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_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CERKL gene promoter:
         AREB6   POU3F1   p300   FOXO3   FOXD3   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCERKL promoter sequence
   Search SABiosciences Chromatin IP Primers for CERKL

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


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

Entrez Gene cytogenetic band: 2q31.3   Ensembl cytogenetic band:  2q31.3   HGNC cytogenetic band: 2q31.3

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M182401:  view genomic region     (about GC identifiers)

Start:
182,401,399 bp from pter      End:
182,545,392 bp from pter
Size:
143,994 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: CERKL_HUMAN, Q49MI3 (See protein sequence)
Recommended Name: Ceramide kinase-like protein  
Size: 558 amino acids; 62622 Da
Subcellular location: Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and
cytoplasm. Isoform 5 is not enriched in the nucleoli
Subcellular location: Isoform 2: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic
reticulum
Developmental stage: Expressed in fetal lung, kidney and brain
Sequence caution: Sequence=BAC85266.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAG26980.1;
Type=Frameshift; Positions=Several;
Secondary accessions: B2RPL2 B4DEY1 Q49MH9 Q49MI0 Q49MI1 Q49MI2 Q5DVJ2 Q5DVJ4 Q5DVJ5 Q6UZF6
Q6ZP59
Alternative splicing: 8 isoforms:  Q49MI3-1   Q49MI3-2   Q49MI3-3   Q49MI3-4   Q49MI3-5   Q49MI3-7   Q49MI3-8   Q49MI3-9   
(May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CERKL: NX_Q49MI3

Explore proteomics data for CERKL at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on serine residues
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q49MI3

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

    CERKL Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001025482.1  NP_001025483.1  NP_001025484.1  NP_001153749.1  NP_963842.1  

    ENSEMBL proteins: 
     ENSP00000386725   ENSP00000387080   ENSP00000364108   ENSP00000409198   ENSP00000341159  
     ENSP00000364109   ENSP00000364106   ENSP00000411466  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CERKL 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA19158957
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    CERKL 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
    1 InterPro protein domain:
     IPR001206 Diacylglycerol_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q49MI3

    ProtoNet protein and cluster: Q49MI3

    UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3
    Similarity: Contains 1 DAGKc domain


    CERKL 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: CERKL_HUMAN, Q49MI3
    Function: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in
    oxidative stress conditions

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IEA--
         
    CERKL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CERKL:
     Decreased Salmonella enterica  

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cerkl):
     cellular  vision/eye 

    CERKL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CERKL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CERKL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CERKL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CERKL 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CERKL
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CERKL:
    hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidCERKL 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CERKL


    (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



    Interactions:

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

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0043066negative regulation of apoptotic process IDA19158957

    CERKL 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

    CERKL for compounds           About GeneDecksing

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

    Browse Tocris compounds for CERKL

    1 PharmGKB related drug/compound annotation for CERKL gene    About this table
    Drug/compound PharmGKB Annotation
    iloperidoneCA  

    Search CenterWatch for drugs/clinical trials and news about CERKL

    (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 CERKL gene (5 alternative transcripts): 
    NM_001030311.2  NM_001030312.2  NM_001030313.2  NM_001160277.1  NM_201548.4  

    Unigene Cluster for CERKL:

    Ceramide kinase-like
    Hs.732358  [show with all ESTs]
    Unigene Representative Sequence: NM_001030311
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000410087(uc002unw.3 uc002unx.3 uc010frk.3 uc002uny.3 uc010zfm.2 uc002unz.3 uc002uoa.3 uc002uob.3 uc002uoc.3 uc021vth.1 uc021vti.1 uc021vtj.1 uc021vtk.1 uc021vtl.1 uc021vtm.1 uc002uod.2)
    ENST00000409440 ENST00000374969 ENST00000452174 ENST00000339098 ENST00000374970
    ENST00000374967 ENST00000494398(uc002uoe.3) ENST00000421817 ENST00000479558
    ENST00000466715 ENST00000460319 ENST00000476070 ENST00000497337
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CERKL
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CERKL:
    hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidCERKL 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Sirion Biotech Customized lentivirus for stable overexpression of CERKL 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CERKL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CERKL

    Additional mRNA sequence: 

    AJ640141.1 AJ697858.1 AK129976.1 AK293844.1 AY357073.1 AY690329.1 AY690330.1 AY690331.1 
    BC137498.1 BC137499.1 HQ426666.1 HQ426667.1 HQ426668.1 HQ426669.1 HQ426670.1 HQ426671.1 
    HQ426672.1 HQ426673.1 HQ426674.1 HQ426675.1 HQ426676.1 HQ426677.1 HQ426678.1 HQ426679.1 
    JF290420.1 NR_027689.1 NR_027690.1 

    7 DOTS entries:

    DT.100757359  DT.99946353  DT.112809  DT.438156  DT.97840348  DT.120966502  DT.120966656 

    24/29 AceView cDNA sequences (see all 29):

    NM_201548 AY357073 AI906687 BM979388 BU689441 AW148543 BM983875 BM969366 
    AI935410 AI273051 AK129976 CA941582 CA941289 BE501780 AI769736 R85727 
    BE781384 BC020465 AW880375 BE797822 AW968736 H95691 AW299362 AW058563 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CERKL (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:                          -                                                                                       
    SP2:                          -                       -                                                               
    SP3:                          -                 -     -                                                               
    SP4:                          -           -     -     -                                                               
    SP5:                          -                 -     -     -                                                         


    ECgene alternative splicing isoforms for CERKL

    (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

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


    CERKL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud

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

    SOURCE GeneReport for Unigene cluster: Hs.732358

    UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3
    Tissue specificity: Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal
    brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is
    expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina,
    kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver

        SABiosciences Custom PCR Arrays for CERKL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CERKL

    (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 animals and fungi.

    Orthologs for CERKL gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cerkl1 , 5 ceramide kinase-like1, 5 79.71(n)1
    76.88(a)1
      2 (47.43 cM)5
    2280941  NM_001048176.11  NP_001041641.11 
     793305435 
    chicken
    (Gallus gallus)
    Aves CERKL1 ceramide kinase-like 70.82(n)
    66.12(a)
      424120  XM_421973.3  XP_421973.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    66(a)
    63(a)
    1 ↔ many
    1 ↔ many
    GL343455.1(646734-665193)
    GL343783.1(294-43472)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1622131 zgc:162213 61.41(n)
    60.25(a)
      100037318  NM_001089474.1  NP_001082943.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cerk6
    Ceramide kinase
    18(a)
    1 ↔ 1
    3R(1184585-1194027)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB56
    LCB46
    Minor sphingoid long-chain base kinase, paralog of...
    Sphingoid long-chain base kinase, responsible for ...
    11(a)
    11(a)
    many ↔ many
    many ↔ many
    XII(665844-667907)
    XV(652010-653884)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CERKL gene
    SPHK12  CERK2  SPHK22  AGK2  

    CERKL 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

    10/2604 SNPs in CERKL are shown (see all 2604)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0651824
    Retinitis pigmentosa 26 (RP26)4--see VAR_0651822 R S mis40--------
    rs1219093981,2
    Cpathogenic1181811215(-) CAGACC/G/TGAATC 10 R * int1 stg10--------
    rs676167931,2
    C--174260647(+) GACAA-/TTAAGC 7 -- int10--------
    rs1490117311,2
    C--174283406(+) TAATT-/TTTTA 
            
    TTTTA
    7 -- int10--------
    rs339340861,2
    C--174294225(+) ACATA-/GAAGGT 7 -- int10--------
    rs339821841,2
    C--174366393(+) CATGA-/TATCAT 7 -- int10--------
    rs666523481,2
    C--174376508(+) TTTAA-/GACTCT 7 -- int10--------
    rs14492581,2
    C,F,A,H--181788786(-) GAAGTC/AATTTC 7 -- int121Minor allele frequency- A:0.02EA MN NS NA WA CSA 1775
    rs730264891,2
    C--181788918(+) ATCAAG/ACATAC 7 -- int12Minor allele frequency- A:0.02WA 120
    rs2005266061,2
    C--181788990(+) TTACCA/TGATAC 7 -- int10--------

    HapMap Linkage Disequilibrium report for CERKL (182401399 - 182545392 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CERKL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676063CNV Deletion23128226
    nsv834477CNV Gain17160897


    Human Gene Mutation Database (HGMD): CERKL
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CERKL
    DNA2.0 Custom Variant and Variant Library Synthesis for CERKL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608381   
    OMIM disorders: 608380  
    UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3
  • Retinitis pigmentosa 26 (RP26) [MIM:608380]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for CERKL:    About MalaCards
    retinitis pigmentosa 26    cerkl-related retinitis pigmentosa    rhyns syndrome    retinitis pigmentosa
    cone-rod dystrophy    retinitis    fundus dystrophy    retinal disease
    retinal degeneration    narcolepsy    blindness    schizophrenia

    2 diseases from the University of Copenhagen DISEASES database for CERKL:
    Retinitis pigmentosa     cone-rod dystrophy

    CERKL for disorders           About GeneDecksing

    Genetic Association Database (GAD): CERKL
    Human Genome Epidemiology (HuGE) Navigator: CERKL (9 documents)

    Export disorders for CERKL 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 CERKL gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with CERKL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). (PubMed id 14681825)1, 2, 3, 9 Tuson M.... Gonzalez-Duarte R. (2004)
    2. Characterization of a ceramide kinase-like protein. (PubMed id 15708351)1, 2, 9 Bornancin F.... Billich A. (2005)
    3. Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress. (PubMed id 19158957)1, 2, 9 Tuson M....Marfany G. (2009)
    4. 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, 2, 9 Rovina P....Bornancin F. (2009)
    5. A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. (PubMed id 18978954)1, 2, 9 Ali M....Inglehearn C.F. (2008)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    8. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 4 Clark G.R....Simpson D.A. (2010)
    9. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 375298 HGNC: 21699 AceView: RP26 Ensembl:ENSG00000188452 euGenes: HUgn375298
    ECgene: CERKL H-InvDB: CERKL

    (According to HUGE)
    About This Section
      --

    (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 CERKL 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 CERKL gene:
    Search GeneIP for patents involving CERKL

    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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