YRDC

Chr 1p34.3

yrdC N6-threonylcarbamoyltransferase domain containing

Aliases:: FLJ23476, IRIP, SUA5
MANE:: ENST00000373044.3

OMIM: 612276 ↗NCBI: 79693 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

YRDC · Q86U90

v62025-08-01

Predicted Aligned Error matrix for YRDC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.6/ 100

Confident

279 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)10%
Low(50–70)5%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Galloway-Mowat syndrome 10
0.70
Galloway-Mowat syndrome
0.46
rheumatoid arthritis
0.10
systemic lupus erythematosus
0.10
skin cancer
0.09
neoplasm
0.09
non-small cell lung carcinoma
0.08
hepatocellular carcinoma
0.07
autoimmune disease
0.06
cancer
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Threonylcarbamoyl-AMP synthase

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:34545459). Catalyzes the conversion of L-threonine, HCO(3)(-)/CO(2) and ATP to give threonylcarbamoyl-AMP (TC-AMP) as the acyladenylate intermediate, with the release of diphosphate (PubMed:29760464). Participates in t(6)A37 formation in cytoplasmic and mitochondrial tRNAs (PubMed:29760464). May regulate the activity of some transporters (By similarity)