Gene Gene information from NCBI Gene database.
Entrez ID 54901
Gene name CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase
Gene symbol CDKAL1
Synonyms (NCBI Gene)
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Chromosome 6
Chromosome location 6p22.3
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 di
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs7754840 G>A,C,T Risk-factor Genic upstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
727
miRTarBase ID miRNA Experiments Reference
MIRT001643 hsa-let-7b-5p pSILAC 18668040
MIRT027819 hsa-miR-98-5p Microarray 19088304
MIRT001643 hsa-let-7b-5p Proteomics;Other 18668040
MIRT051707 hsa-let-7e-5p CLASH 23622248
MIRT631962 hsa-miR-890 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32814053
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611259 21050 ENSG00000145996
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VV42
Protein name Threonylcarbamoyladenosine tRNA methylthiotransferase (EC 2.8.4.5) (CDK5 regulatory subunit-associated protein 1-like 1) (tRNA-t(6)A37 methylthiotransferase)
Protein 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. {ECO:0000250|UniProtKB:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00919 UPF0004 65 152 Uncharacterized protein family UPF0004 Family
PF04055 Radical_SAM 208 381 Radical SAM superfamily Domain
PF01938 TRAM 431 492 TRAM domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreatic islets. {ECO:0000269|PubMed:23048041}.
Sequence
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTI
PGIQKIWIRTWGCSHNNSDGEYMAGQLAAYGYKITENASDADLWLLNSCTVKNPAEDHFR
NSIKKAQEENKKIVLAGCVPQAQPRQDYLKGL
SIIGVQQIDRVVEVVEETIKGHSVRLLG
QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVD
RAKQSFQEGVCEIWLTSEDTGAYGRDIGTNLPTLLWKLVEVIPEGAMLRLGMTNPPYILE
HLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMKREYCVADFKRVVDFLKEKVPGITIAT
DIICGFPGETDQDFQETVKLV
EEYKFPSLFINQFYPRPGTPAAKMEQVPAQVKKQRTKDL
SRVFHSYSPYDHKIGERQQVLVTEESFDSKFYVAHNQFYEQVLVPKNPAFMGKMVEVDIY
ESGKHFMKGQPV
SDAKVYTPSISKPLAKGEVSGLTKDFRNGLGNQLSSGSHTSAASQCDS
ASSRMVLPMPRLHQDCALRMSVGLALLGLLFAFFVKVYN
Sequence length 579
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    tRNA modification in the nucleus and cytosol
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs114325352 RCV005904778
Obesity risk factor rs7754840 RCV001002802
Type 2 diabetes mellitus Uncertain significance; not provided rs10946398, rs7756992, rs2532458534 RCV000001037
RCV000001038
RCV003331560
Uterine carcinosarcoma Benign rs114325352 RCV005904779
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Birth Weight Associate 26168825
Breast Neoplasms Inhibit 27314662
Breast Neoplasms Associate 27314662, 30457165, 38217005
Carcinogenesis Associate 24163127
Carotid Stenosis Associate 36894991
Colitis Ulcerative Associate 19068216
Congenital Hyperinsulinism Associate 23869231
Coronary Artery Disease Associate 22216278
Crohn Disease Associate 19068216, 21152001
Cystic Fibrosis Associate 23670970