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Gene Gene information from NCBI Gene database.
Entrez ID 54901
Gene name CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase
Gene symbol CDKAL1
Synonyms (NCBI Gene)
-
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 Show/Hide all (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.
23 Show/Hide all (23)
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
PF01938 TRAM 431 → 492 TRAM domain Domain
PF04055 Radical_SAM 208 → 381 Radical SAM superfamily 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 Pathway
tRNA modification in the nucleus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
56
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (56)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 26830138, 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA — GWAS catalog 30573740
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — GWAS catalog 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (88)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 27936930
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arteriosclerosis Arteriosclerosis BEFREE 20142250
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 21150878
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 20142250
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism GWASDB_DG 22843504
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 18037967
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27314662
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations