YRDC (yrdC N6-threonylcarbamoyltransferase domain containing)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79693
Gene name YrdC N6-threonylcarbamoyltransferase domain containing
Gene symbol YRDC
Synonyms (NCBI Gene)
DRIP3GAMOS10IRIPSUA5
Chromosome 1
Chromosome location 1p34.3
miRNA miRNA information provided by mirtarbase database.
649
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (649)
miRTarBase ID miRNA Experiments Reference
MIRT016622 hsa-miR-484 Sequencing 20371350
MIRT016659 hsa-miR-425-5p Sequencing 20371350
MIRT028515 hsa-miR-30a-5p Proteomics 18668040
MIRT044445 hsa-miR-320a CLASH 23622248
MIRT037881 hsa-miR-455-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA
GO:0002949 Process TRNA threonylcarbamoyladenosine modification IDA 29760464, 31481669, 34545459
GO:0003725 Function Double-stranded RNA binding IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612276 28905 ENSG00000196449
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86U90
Protein name Threonylcarbamoyl-AMP synthase (EC 2.7.7.87) (Dopamine receptor-interacting protein 3) (Ischemia/reperfusion-inducible protein homolog) (hIRIP)
Protein function Cytoplasmic and mitochondrial threonylcarbamoyl-AMP synthase required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:29760464, PubMed:31481669, PubMed
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01300 Sua5_yciO_yrdC 75 → 255 Telomere recombination Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12730717}.
Sequence
Sequence length 279
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Galloway-Mowat syndrome 10 Pathogenic rs1646752498, rs747256043, rs1646718218, rs2148390396 RCV001777187
RCV001777188
RCV001777189
RCV001777190
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
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.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GALLOWAY MOWAT SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GALLOWAY-MOWAT SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cutis Laxa Autosomal Recessive Type IIB Cutis laxa Pubtator 34545459 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 34545459 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Galloway Mowat syndrome Galloway-Mowat Syndrome BEFREE 31481669
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Galloway Mowat syndrome Galloway-mowat syndrome Pubtator 31481669 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Skin Diseases Skin disease Pubtator 34545459 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only