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CDKAL1 Gene

protein-coding   GIFtS: 54
GCID: GC06P020534

CDK5 Regulatory Subunit Associated Protein 1-Like 1

  See CDKAL1-related disease
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
CDK5 Regulatory Subunit Associated Protein 1-Like 11 2
TRNA-T(6)A37 Methylthiotransferase2 3
Threonylcarbamoyladenosine TRNA Methylthiotransferase2
EC 2.-.-.-3
CDK5 Regulatory Subunit-Associated Protein 1-Like 13

External Ids:    HGNC: 210501   Entrez Gene: 549012   Ensembl: ENSG000001459967   OMIM: 6112595   UniProtKB: Q5VV423   

Export aliases for CDKAL1 gene to outside databases

Previous GC identifers: GC06P020597 GC06P020642 GC06P020478


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


Entrez Gene summary for CDKAL1 Gene:
The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not
known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with
susceptibilty to type 2 diabetes. (provided by RefSeq, May 2010)

GeneCards Summary for CDKAL1 Gene:
CDKAL1 (CDK5 regulatory subunit associated protein 1-like 1) is a protein-coding gene. Diseases associated with CDKAL1 include diabetes mellitus, noninsulin-dependent. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and transferase activity. An important paralog of this gene is CDK5RAP1.

UniProtKB/Swiss-Prot: CDKAL_HUMAN, Q5VV42
Function: Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of
2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with
adenine




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDKAL1 gene promoter:
         STAT1   Egr-1   STAT1beta   FOXO3   Gfi-1   STAT1alpha   FOXO3b   FOXO3a   Pax-4a   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDKAL1 promoter sequence
   Search Chromatin IP Primers for CDKAL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDKAL1


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

Entrez Gene cytogenetic band: 6p22.3   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22.2

CDKAL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDKAL1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P020534:  view genomic region     (about GC identifiers)

Start:
20,534,688 bp from pter      End:
21,232,635 bp from pter
Size:
697,948 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section


UniProtKB/Swiss-Prot: CDKAL_HUMAN, Q5VV42 (See protein sequence)
Recommended Name: Threonylcarbamoyladenosine tRNA methylthiotransferase  
Size: 579 amino acids; 65111 Da
Cofactor: Binds 2 4Fe-4S clusters. One cluster is coordinated with 3 cysteines and an exchangeable
S-adenosyl-L-methionine (By similarity)
Sequence caution: Sequence=BAC87494.1; Type=Frameshift; Positions=575;
Secondary accessions: A8K6S0 Q6P385 Q6ZR27 Q9NXB3
Alternative splicing: 3 isoforms:  Q5VV42-1   Q5VV42-2   Q5VV42-3   

Explore the universe of human proteins at neXtProt for CDKAL1: NX_Q5VV42

Explore proteomics data for CDKAL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys45, Lys112, Lys150, Lys172, Lys243, Lys334, Lys516
  • Modification sites at PhosphoSitePlus

  • See CDKAL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060244.2  
    ENSEMBL proteins: 
     ENSP00000367873   ENSP00000274695   ENSP00000367889  

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    Novus Biologicals CDKAL1 Protein
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    Cloud-Clone Corp. Proteins for CDKAL1

     
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    antibodies-online proteins for CDKAL1 (2 products) 

     
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    antibodies-online antibodies for CDKAL1 (16 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    Selected InterPro protein domains (see all 9):
     IPR005839 Methylthiotransferase
     IPR023970 MeThioTfrase/rSAM
     IPR020612 Methylthiotransferase_CS
     IPR013848 Methylthiotransferase_N
     IPR007197 rSAM

    Graphical View of Domain Structure for InterPro Entry Q5VV42

    ProtoNet protein and cluster: Q5VV42

    2 Blocks protein domains:
    IPB002792 Deoxyribonuclease/rho motif-related TRAM
    IPB005839 Protein of unknown function UPF0004


    UniProtKB/Swiss-Prot: CDKAL_HUMAN, Q5VV42
    Similarity: Belongs to the methylthiotransferase family. CDKAL1 subfamily
    Similarity: Contains 1 MTTase N-terminal domain
    Similarity: Contains 1 TRAM domain


    Find genes that share domains with CDKAL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CDKAL_HUMAN, Q5VV42
    Function: Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of
    2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with
    adenine

         Enzyme Number (IUBMB): EC 2.-.-.-1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003824catalytic activity ----
    GO:0016740transferase activity ----
    GO:0035598N6-threonylcarbomyladenosine methylthiotransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with CDKAL1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CDKAL1:
     G0/1 arrest  Increased G1 DNA content 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cdkal1):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  liver/biliary system  normal 

    Find genes that share phenotypes with CDKAL1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CDKAL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CDKAL1:
    hsa-let-7b-5p (MIRT001643), hsa-let-7e-5p (MIRT051707), hsa-mir-98-5p (MIRT027819)

    Block miRNA regulation of human, mouse, rat CDKAL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CDKAL1 (see all 10):
    hsa-miR-3671 hsa-miR-4328 hsa-miR-938 hsa-miR-650 hsa-miR-744* hsa-miR-873 hsa-miR-3927 hsa-miR-630
    SwitchGear 3'UTR luciferase reporter plasmidCDKAL1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDKAL1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKAL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section


    Subcellular locations from UniProtKB/Swiss-Prot
    CDKAL_HUMAN, Q5VV42: Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Is a tail-anchored
    protein that exploits the TCR40 pathway for insertion into the endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005791rough endoplasmic reticulum IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CDKAL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section







        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CDKAL1
    Interactions:

        GeneGlobe Interaction Network for CDKAL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for CDKAL1 (Q5VV423 ENSP000002746954) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GINS4Q9BRT93I2D: score=2 
    ATG2AQ2TAZ03I2D: score=1 
    ATP2A1ENSP000003495954STRING: ENSP00000349595
    ATP2A3ENSP000003530724STRING: ENSP00000353072
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008033tRNA processing ----
    GO:0008150biological_process ND--
    GO:0009451RNA modification ----
    GO:0035600tRNA methylthiolation ----
    GO:0043412macromolecule modification ----

    Find genes that share ontologies with CDKAL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for CDKAL1 (CDKAL)

    1 HMDB Compound for CDKAL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section


    REFSEQ mRNAs for CDKAL1 gene: 
    NM_017774.3  

    Unigene Cluster for CDKAL1:

    CDK5 regulatory subunit associated protein 1-like 1
    Hs.657604  [show with all ESTs]
    Unigene Representative Sequence: NM_017774
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378610(uc021ymk.1 uc003ndf.2) ENST00000476517 ENST00000274695(uc003ndb.1 uc010jpo.1 uc003ndd.2)
    ENST00000378624(uc003nde.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CDKAL1 (see all 10):
    hsa-miR-3671 hsa-miR-4328 hsa-miR-938 hsa-miR-650 hsa-miR-744* hsa-miR-873 hsa-miR-3927 hsa-miR-630
    SwitchGear 3'UTR luciferase reporter plasmidCDKAL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CDKAL1
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat CDKAL1

    Additional mRNA sequence: 

    AK024151.1 AK128546.1 AK291735.1 AK309457.1 AK310219.1 BC064145.1 BC121020.1 BC121021.1 

    12 DOTS entries:

    DT.40264388  DT.95205362  DT.101979966  DT.91872590  DT.95293844  DT.99987687  DT.95071737  DT.100751842 
    DT.121368127  DT.40194197  DT.421593  DT.95163006 

    Selected AceView cDNA sequences (see all 70):

    AL518999 BI911122 BM666014 BE514950 BE793200 W73041 AJ710920 BP369016 
    CD171827 BM767370 AK128546 BM710919 BC064145 BX109622 CR608328 CR623381 
    BQ433420 BG032307 BM560477 BE797743 NM_017774 CD644276 BX354213 BE798597 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CDKAL1    About this scheme

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


    ECgene alternative splicing isoforms for CDKAL1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CDKAL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CDKAL1 Expression
    About this image

    CDKAL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDKAL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657604

    UniProtKB/Swiss-Prot: CDKAL_HUMAN, Q5VV42
    Tissue specificity: Expressed in pancreatic islets

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    In Situ
    Assay Products:
     

     
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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 CDKAL1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdkal11 , 5 CDK5 regulatory subunit associated protein 1-like 11, 5 86.52(n)1
    92.31(a)1
      13 (12.93 cM)5
    689161  NM_144536.21  NP_653119.11 
     291917465 
    chicken
    (Gallus gallus)
    Aves CDKAL11 CDK5 regulatory subunit associated protein 1-like 1 82.46(n)
    86.47(a)
      420823  XM_004939622.1  XP_004939679.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDKAL16
    CDK5 regulatory subunit associated protein 1-like ...
    87(a)
    1 ↔ 1
    4(55500333-55680524)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.130792 Xenopus laevis transcribed sequence with moderate similarity more 81.68(n)    CA790946.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658642 hypothetical protein MGC65864 74.25(n)   393600  BC057248.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG65501 CG6550 58.49(n)
    64.42(a)
      36954  NM_137363.3  NP_611207.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y92H12BL.11 Y92H12BL.1 57.41(n)
    58.07(a)
      190786  NM_170800.3  NP_740783.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G720901 AT1G72090 57.56(n)
    55.56(a)
      843540  NM_105867.3  NP_565035.1 
    rice
    (Oryza sativa)
    Liliopsida Os.117552 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 69.97(n)    AK101879.1 


    ENSEMBL Gene Tree for CDKAL1 (if available)
    TreeFam Gene Tree for CDKAL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    Paralogs for CDKAL1 gene
    CDK5RAP12  

    Find genes that share paralogs with CDKAL1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section


    Selected SNPs for CDKAL1 (see all 15964)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1475730261,2
    --20454927(+) TCCTTC/TCTTCC 1 -- us2k10--------
    rs1854301981,2
    --20455025(+) GCCAAC/TAACTC 1 -- us2k10--------
    rs768130091,2
    C--20455120(+) ATGTT-/GGCCTA 1 -- us2k10--------
    rs1407753521,2
    --20455288(+) CTTTTA/GCTCTG 1 -- us2k10--------
    rs94657911,2
    C,F,H--20455299(+) GCTGAC/TTCTCC 1 -- us2k19Minor allele frequency- T:0.04NS EA WA 1308
    rs69094671,2
    C,F,A,H--20455402(+) ATTTTC/TTCAAA 1 -- us2k1 tfbs329Minor allele frequency- N:0.00NS EA NA WA CSA 2561
    rs1899034761,2
    --20455488(+) ATGGGC/GTACAT 1 -- us2k10--------
    rs345256801,2
    C,F,H--20455509(+) ATATCT/CTTTAC 1 -- us2k117Minor allele frequency- C:0.17NS EA NA CSA WA 2051
    rs1815937421,2
    --20455537(+) TGGGGA/GAAAAG 1 -- us2k10--------
    rs354575341,2
    C--20455551(+) TGGAGTCAT/-  
            
    TCATT
    1 -- us2k11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for CDKAL1 (20534688 - 20784688 bp, first 250kb of CDKAL1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CDKAL1 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2034903CNV Deletion18987734
    esv2731676CNV Deletion23290073
    esv2658301CNV Deletion23128226
    esv2356880CNV Deletion18987734
    esv2672282CNV Deletion23128226
    esv2533735CNV Deletion19546169
    esv2532671CNV Deletion19546169
    esv2731673CNV Deletion23290073
    esv2731675CNV Deletion23290073
    esv5216CNV Deletion18987735

    Human Gene Mutation Database (HGMD): CDKAL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDKAL1
    DNA2.0 Custom Variant and Variant Library Synthesis for CDKAL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    OMIM gene information: 611259   
    OMIM disorders: 125853  
    UniProtKB/Swiss-Prot: CDKAL_HUMAN, Q5VV42
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose
    homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese
    body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance,
    hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes,
    kidneys, nerves, and blood vessels. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • 1 disease for CDKAL1:    
    About MalaCards
    diabetes mellitus, noninsulin-dependent

    1 inferred disease relationship from the University of Copenhagen DISEASES database for CDKAL1:
    Diabetes mellitus

    Find genes that share disorders with CDKAL1           About GenesLikeMe

    Genetic Association Database (GAD): CDKAL1
    Human Genome Epidemiology (HuGE) Navigator: CDKAL1 (116 documents)

    Export disorders for CDKAL1 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 CDKAL1 gene, integrated from 10 sources (see all 154):
    (articles sorted by number of sources associating them with CDKAL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. (PubMed id 17460697)1, 2, 4 Steinthorsdottir V.... Stefansson K. (Nat. Genet. 2007)
    2. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. (PubMed id 17463246)1, 2, 4 Saxena R.... Purcell S. (Science 2007)
    3. Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. (PubMed id 17928989)1, 4, 9 Horikoshi M....Kadowaki T. (Diabetologia 2007)
    4. CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1) is a tail-anchored protein in the endoplasmic reticulum (ER) of insulinoma cells. (PubMed id 23048041)1, 2 Brambillasca S.... Solimena M. (J. Biol. Chem. 2012)
    5. A genome-wide association study of gestational diabetes mellitus in Korean women. (PubMed id 22233651)1, 4 Kwak S.H....Park K.S. (Diabetes 2012)
    6. Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. (PubMed id 22344221)1, 4 Okada Y....Tanaka T. (Nat. Genet. 2012)
    7. Meta-analysis identifies common variants associated with body mass index in east Asians. (PubMed id 22344219)1, 4 Wen W....Shu X.O. (Nat. Genet. 2012)
    8. Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study. (PubMed id 22290723)1, 4 Ryu J. and Lee C. (Hum. Mutat. 2012)
    9. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PubMed id 21490949)1, 4 Sim X....Tai E.S. (PLoS Genet. 2011)
    10. Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population. (PubMed id 20550665)1, 4 Lin Y....Yang Z. (BMC Med. Genet. 2010)

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

      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54901 HGNC: 21050 AceView: CDKAL1 Ensembl:ENSG00000145996 euGenes: HUgn54901
    ECgene: CDKAL1 H-InvDB: CDKAL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CDKAL1 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 CDKAL1 gene:
    Search GeneIP for patents involving CDKAL1

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



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    About This Section


     
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