PTRHD1

Chr 2p23.3

peptidyl-tRNA hydrolase domain containing 1

Aliases:: LOC391356
MANE:: ENST00000328379.6

OMIM: 617342 ↗NCBI: 391356 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PTRHD1 · Q6GMV3

v62025-08-01

Predicted Aligned Error matrix for PTRHD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.8/ 100

Very high

140 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)1%
Low(50–70)12%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
0.63
Parkinson disease
0.35
parkinsonian disorder
0.34
intestinal impaction
0.12
Inguinal hernia
0.07
Abnormality of the skeletal system
0.07
multiple sclerosis
0.07
essential hypertension
0.06
hypertensive disorder
0.06
cervical carcinoma
0.06

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

Protein function (UniProt)

Putative peptidyl-tRNA hydrolase PTRHD1

As a putative peptidyl-tRNA hydrolase, it might be involved in releasing tRNAs from the ribosome during protein synthesis (Probable). Some evidence, however, suggests that it lacks peptidyl-tRNA hydrolase activity (PubMed:27235175)