Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54901
Gene name Gene Name - the full gene name approved by the HGNC.
CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDKAL1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
Summary Summary of gene provided in NCBI Entrez 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 di
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611259 21050 ENSG00000145996
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease 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