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

Gene ID: 54901, updated on 6-Jul-2014
Official Symbol
CDKAL1provided by HGNC
Official Full Name
CDK5 regulatory subunit associated protein 1-like 1provided by HGNC
Primary source
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]
See CDKAL1 in Epigenomics, MapViewer
Location:
6p22.3
Exon count :
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 membrane bound O-acyltransferase domain containing 1 Neighboring gene E2F transcription factor 3 Neighboring gene ribosomal protein L36a pseudogene 25 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 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
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
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

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
 
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
cellular_component ND
No biological Data available
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
threonylcarbamoyladenosine tRNA methylthiotransferase
Names
threonylcarbamoyladenosine tRNA methylthiotransferase
tRNA-t(6)A37 methylthiotransferase

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 

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

mRNA and Protein(s)

  1. NM_017774.3NP_060244.2  threonylcarbamoyladenosine tRNA methylthiotransferase

    See proteins identical to 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
    Blast Score: 112
    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
    Blast Score: 970
    MiaB; 2-methylthioadenine synthetase [Translation, ribosomal structure and biogenesis]
    pfam00919
    Location:65146
    Blast Score: 258
    UPF0004; Uncharacterized protein family UPF0004

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

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

mRNA and Protein(s)

  1. XM_006715128.1XP_006715191.1  

    Conserved Domains (3) summary
    cd01335
    Location:208406
    Blast Score: 109
    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
    Blast Score: 256
    UPF0004; Uncharacterized protein family UPF0004
    pfam04055
    Location:208381
    Blast Score: 202
    Radical_SAM; Radical SAM superfamily
  2. XM_006715127.1XP_006715190.1  

    See proteins identical to XP_006715190.1

    UniProtKB/Swiss-Prot
    Q5VV42
    Conserved Domains (3) summary
    cd01335
    Location:208406
    Blast Score: 112
    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
    Blast Score: 970
    MiaB; 2-methylthioadenine synthetase [Translation, ribosomal structure and biogenesis]
    pfam00919
    Location:65146
    Blast Score: 258
    UPF0004; Uncharacterized protein family UPF0004

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    20478924..21176389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

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

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