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Aliases for CDKAL1 Gene

Aliases for CDKAL1 Gene

  • CDK5 Regulatory Subunit Associated Protein 1-Like 1 2 3
  • CDK5 Regulatory Subunit-Associated Protein 1-Like 1 4
  • TRNA-T(6)A37 Methylthiotransferase 4
  • EC 2.8.4.5 4

External Ids for CDKAL1 Gene

Previous GeneCards Identifiers for CDKAL1 Gene

  • GC06P020597
  • GC06P020642
  • GC06P020478

Summaries for CDKAL1 Gene

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 podoconiosis and diabetes mellitus, noninsulin-dependent. Among its related pathways are Gene Expression and tRNA modification in the nucleus and cytosol. GO annotations related to this gene include transferase activity and iron-sulfur cluster binding. An important paralog of this gene is CDK5RAP1.

UniProtKB/Swiss-Prot for CDKAL1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDKAL1 Gene

Genomics for CDKAL1 Gene

Regulatory Elements for CDKAL1 Gene

Genomic Location for CDKAL1 Gene

Chromosome:
6
Start:
20,534,457 bp from pter
End:
21,232,404 bp from pter
Size:
697,948 bases
Orientation:
Plus strand

Genomic View for CDKAL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CDKAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDKAL1 Gene

Proteins for CDKAL1 Gene

  • Protein details for CDKAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VV42-CDKAL_HUMAN
    Recommended name:
    Threonylcarbamoyladenosine tRNA methylthiotransferase
    Protein Accession:
    Q5VV42
    Secondary Accessions:
    • A8K6S0
    • Q6P385
    • Q6ZR27
    • Q9NXB3

    Protein attributes for CDKAL1 Gene

    Size:
    579 amino acids
    Molecular mass:
    65111 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 2 [4Fe-4S] clusters. One cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC87494.1; Type=Frameshift; Positions=575; Evidence={ECO:0000305};

    Alternative splice isoforms for CDKAL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDKAL1 Gene

Proteomics data for CDKAL1 Gene at MOPED

Post-translational modifications for CDKAL1 Gene

  • Ubiquitination at Lys 45, Lys 112, Lys 150, Lys 172, Lys 243, Lys 334, and Lys 516
  • Modification sites at PhosphoSitePlus

Other Protein References for CDKAL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CDKAL1 Gene

Domains & Families for CDKAL1 Gene

Suggested Antigen Peptide Sequences for CDKAL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VV42

UniProtKB/Swiss-Prot:

CDKAL_HUMAN :
  • Contains 1 MTTase N-terminal domain.
  • Belongs to the methylthiotransferase family. CDKAL1 subfamily.
Domain:
  • Contains 1 MTTase N-terminal domain.
  • Contains 1 TRAM domain.
Family:
  • Belongs to the methylthiotransferase family. CDKAL1 subfamily.
genes like me logo Genes that share domains with CDKAL1: view

No data available for Gene Families for CDKAL1 Gene

Function for CDKAL1 Gene

Molecular function for CDKAL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
N(6)-L-threonylcarbamoyladenine(37) in tRNA + sulfur-(sulfur carrier) + 2 S-adenosyl-L-methionine + reduced electron acceptor = 2-methylthio-N(6)-L-threonylcarbamoyladenine(37) in tRNA + S-adenosyl-L-homocysteine + (sulfur carrier) + L-methionine + 5-deoxyadenosine + electron acceptor.
UniProtKB/Swiss-Prot 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 Numbers (IUBMB) for CDKAL1 Gene

Gene Ontology (GO) - Molecular Function for CDKAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity --
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity --
GO:0035598 N6-threonylcarbomyladenosine methylthiotransferase activity IBA --
genes like me logo Genes that share ontologies with CDKAL1: view
genes like me logo Genes that share phenotypes with CDKAL1: view

Animal Model Products

miRNA for CDKAL1 Gene

miRTarBase miRNAs that target CDKAL1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CDKAL1 Gene

Localization for CDKAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKAL1 Gene

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
Jensen Localization Image for CDKAL1 Gene COMPARTMENTS Subcellular localization image for CDKAL1 gene
Compartment Confidence
endoplasmic reticulum 3
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CDKAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CDKAL1: view

Pathways & Interactions for CDKAL1 Gene

genes like me logo Genes that share pathways with CDKAL1: view

Pathways by source for CDKAL1 Gene

Gene Ontology (GO) - Biological Process for CDKAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification TAS --
GO:0008033 tRNA processing TAS --
GO:0008150 biological_process ND --
GO:0009451 RNA modification --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with CDKAL1: view

No data available for SIGNOR curated interactions for CDKAL1 Gene

Drugs & Compounds for CDKAL1 Gene

(1) Drugs for CDKAL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
genes like me logo Genes that share compounds with CDKAL1: view

Transcripts for CDKAL1 Gene

Unigene Clusters for CDKAL1 Gene

CDK5 regulatory subunit associated protein 1-like 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CDKAL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDKAL1 Gene

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

Relevant External Links for CDKAL1 Gene

GeneLoc Exon Structure for
CDKAL1
ECgene alternative splicing isoforms for
CDKAL1

Expression for CDKAL1 Gene

mRNA expression in normal human tissues for CDKAL1 Gene

Protein differential expression in normal tissues from HIPED for CDKAL1 Gene

This gene is overexpressed in Breast (40.0) and Bone (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CDKAL1 Gene



SOURCE GeneReport for Unigene cluster for CDKAL1 Gene Hs.657604

mRNA Expression by UniProt/SwissProt for CDKAL1 Gene

Q5VV42-CDKAL_HUMAN
Tissue specificity: Expressed in pancreatic islets.
genes like me logo Genes that share expression patterns with CDKAL1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for CDKAL1 Gene

Orthologs for CDKAL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDKAL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDKAL1 35
  • 90.25 (n)
  • 93.43 (a)
CDKAL1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDKAL1 35
  • 90.37 (n)
  • 91.87 (a)
CDKAL1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdkal1 35
  • 86.52 (n)
  • 92.31 (a)
Cdkal1 16
Cdkal1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CDKAL1 35
  • 99.87 (n)
  • 100 (a)
CDKAL1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CDKAL1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDKAL1 35
  • 82.46 (n)
  • 86.47 (a)
CDKAL1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDKAL1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdkal1 35
  • 78.95 (n)
  • 87.13 (a)
MGC76088 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13079 35
zebrafish
(Danio rerio)
Actinopterygii cdkal1 35
  • 69.15 (n)
  • 75.93 (a)
zgc65864 35
cdkal1 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005211 35
  • 58.75 (n)
  • 62.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6550 35
  • 58.49 (n)
  • 64.42 (a)
CG6550 36
  • 58 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y92H12BL.1 35
  • 57.41 (n)
  • 58.07 (a)
Y92H12BL.1 36
  • 49 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72090 35
  • 57.56 (n)
  • 55.56 (a)
rice
(Oryza sativa)
Liliopsida Os.11755 35
Os04g0434300 35
  • 55.49 (n)
  • 53.96 (a)
corn
(Zea mays)
Liliopsida Zm.5072 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5502 36
  • 59 (a)
OneToOne
Species with no ortholog for CDKAL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CDKAL1 Gene

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

Paralogs for CDKAL1 Gene

Paralogs for CDKAL1 Gene

genes like me logo Genes that share paralogs with CDKAL1: view

Variants for CDKAL1 Gene

Sequence variations from dbSNP and Humsavar for CDKAL1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs2064 -- 20,617,285(-) CCCCC(A/C/T)AGGAA intron-variant
rs2065 -- 20,617,289(-) GTGGC(A/C)CCCTA intron-variant
rs169293 -- 21,025,190(-) GACTG(A/G)TTGTA intron-variant
rs201287 -- 21,021,998(-) TTTTG(C/G)TTTAA intron-variant
rs201288 -- 21,021,771(-) CTACC(C/T)TAGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CDKAL1 Gene

Variant ID Type Subtype PubMed ID
esv2533735 CNV Deletion 19546169
esv2356880 CNV Deletion 18987734
esv5216 CNV Deletion 18987735
esv2731673 CNV Deletion 23290073
esv9437 CNV Loss 19470904
nsv348939 CNV Loss 16902084
esv2034903 CNV Deletion 18987734
esv1117045 CNV Insertion 17803354
nsv883469 CNV Loss 21882294
nsv527696 CNV Loss 19592680
nsv510018 CNV Loss 20534489
esv2731674 CNV Deletion 23290073
esv2731675 CNV Deletion 23290073
esv2731676 CNV Deletion 23290073
nsv519141 CNV Loss 19592680
nsv524793 CNV Loss 19592680
nsv528152 CNV Gain 19592680
nsv524280 CNV Loss 19592680
nsv830600 CNV Loss 17160897
nsv521200 CNV Loss 19592680
esv2658301 CNV Deletion 23128226
esv2532671 CNV Deletion 19546169
dgv6437n71 CNV Loss 21882294
esv2672282 CNV Deletion 23128226

Variation tolerance for CDKAL1 Gene

Residual Variation Intolerance Score: 30.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.14; 69.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDKAL1 Gene

HapMap Linkage Disequilibrium report
CDKAL1
Human Gene Mutation Database (HGMD)
CDKAL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKAL1 Gene

Disorders for CDKAL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CDKAL1 Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
podoconiosis
  • podoconiosis, susceptibility to
diabetes mellitus, noninsulin-dependent
  • diabetes mellitus, noninsulin-dependent, 2
glucose metabolism disease
  • disorder of glucose metabolism
acquired metabolic disease
diabetes mellitus, insulin-dependent
  • diabetes, type 1
- elite association

UniProtKB/Swiss-Prot

CDKAL_HUMAN
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys 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. {ECO:0000269 PubMed:17460697, ECO:0000269 PubMed:17463246}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CDKAL1

Genetic Association Database (GAD)
CDKAL1
Human Genome Epidemiology (HuGE) Navigator
CDKAL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDKAL1
genes like me logo Genes that share disorders with CDKAL1: view

No data available for Genatlas for CDKAL1 Gene

Publications for CDKAL1 Gene

  1. Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. (PMID: 17928989) Horikoshi M. … Kadowaki T. (Diabetologia 2007) 23 67
  2. Transcriptomic Analysis of mRNAs in Human Monocytic Cells Expressing the HIV-1 Nef Protein and Their Exosomes. (PMID: 25961023) Aqil M. … Jameel S. (Biomed Res Int 2015) 67
  3. Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the Tunisian population. (PMID: 24636221) Lasram K. … Abdelhak S. (J Diabetes 2015) 67
  4. Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. (PMID: 25187374) Hwang J.Y. … Kim B.J. (Diabetes 2015) 67
  5. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. (PMID: 24509480) . … Morris A.P. (Nat. Genet. 2014) 67

Products for CDKAL1 Gene

Sources for CDKAL1 Gene

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