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    CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 [ Homo sapiens (human) ]

    Gene ID: 54901, updated on 26-Jun-2015
    Official Symbol
    CDKAL1provided by HGNC
    Official Full Name
    CDK5 regulatory subunit associated protein 1-like 1provided by HGNC
    Primary source
    HGNC:HGNC:21050
    See related
    Ensembl:ENSG00000145996; HPRD:13022; MIM:611259; Vega:OTTHUMG00000014340
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Orthologs
    See CDKAL1 in Epigenomics, MapViewer
    Location:
    6p22.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (20534457..21232404)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (20534688..21232635)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928573 Neighboring gene uncharacterized LOC105375105 Neighboring gene E2F transcription factor 3 Neighboring gene uncharacterized LOC105374968 Neighboring gene ribosomal protein L36a pseudogene 25 Neighboring gene uncharacterized LOC105374967 Neighboring gene uncharacterized LOC105374966 Neighboring gene long intergenic non-protein coding RNA 581 Neighboring gene SRY (sex determining region Y)-box 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Diabetes mellitus type 2
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
    NHGRI GWA Catalog
    A genome-wide association study of gestational diabetes mellitus in Korean women.
    NHGRI GWA Catalog
    A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
    NHGRI GWA Catalog
    A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.
    NHGRI GWA Catalog
    A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.
    NHGRI GWA Catalog
    Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
    NHGRI GWA Catalog
    Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study.
    NHGRI GWA Catalog
    Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
    NHGRI GWA Catalog
    Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
    NHGRI GWA Catalog
    Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    NHGRI GWA Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    NHGRI GWA Catalog
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Meta-analysis identifies common variants associated with body mass index in east Asians.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    NHGRI GWA Catalog
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    NHGRI GWA Catalog
    New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
    NHGRI GWA Catalog
    New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    NHGRI GWA Catalog
    SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.
    NHGRI GWA Catalog
    Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
    NHGRI GWA Catalog
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    NHGRI GWA Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20342, FLJ46705, MGC75469

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    N6-threonylcarbomyladenosine methylthiotransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    maintenance of translational fidelity IEA
    Inferred from Electronic Annotation
    more info
     
    tRNA methylthiolation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    threonylcarbamoyladenosine tRNA methylthiotransferase
    Names
    threonylcarbamoyladenosine tRNA methylthiotransferase
    tRNA-t(6)A37 methylthiotransferase
    NP_060244.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021195.1 RefSeqGene

      Range
      5001..702948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017774.3NP_060244.2  threonylcarbamoyladenosine tRNA methylthiotransferase

      See identical proteins and their annotated locations for NP_060244.2

      Status: REVIEWED

      Source sequence(s)
      AK128546, AL451080, BC121020
      Consensus CDS
      CCDS4546.1
      UniProtKB/Swiss-Prot
      Q5VV42
      Related
      ENSP00000274695, ENST00000274695
      Conserved Domains (3) summary
      cd01335
      Location:208406
      Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
      COG0621
      Location:65492
      MiaB; 2-methylthioadenine synthetase [Translation, ribosomal structure and biogenesis]
      pfam00919
      Location:65146
      UPF0004; Uncharacterized protein family UPF0004

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

      Range
      20534457..21232404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514718.1XP_011513020.1  

      Conserved Domains (3) summary
      cd01335
      Location:208416
      Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
      pfam00919
      Location:65146
      UPF0004; Uncharacterized protein family UPF0004
      TIGR01578
      Location:65481
      MiaB-like-B; MiaB-like tRNA modifying enzyme, archaeal-type
    2. XM_011514719.1XP_011513021.1  

      Conserved Domains (3) summary
      cd01335
      Location:208406
      Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
      pfam00919
      Location:65146
      UPF0004; Uncharacterized protein family UPF0004
      pfam04055
      Location:208381
      Radical_SAM; Radical SAM superfamily
    3. XM_006715128.2XP_006715191.1  

      Conserved Domains (3) summary
      cd01335
      Location:208406
      Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
      pfam00919
      Location:65146
      UPF0004; Uncharacterized protein family UPF0004
      pfam04055
      Location:208381
      Radical_SAM; Radical SAM superfamily

    RNA

    1. XR_926266.1 RNA Sequence

    2. XR_926265.1 RNA Sequence

    3. XR_926267.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      20536980..21234732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)