POP1

Chr 8q22.2

POP1 ribonuclease P/MRP subunit

MANE:: ENST00000401707.7

OMIM: 602486 ↗NCBI: 10940 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

POP1 · Q99575

v62025-08-01

Predicted Aligned Error matrix for POP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.1/ 100

Confident

1,024 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)22%
Low(50–70)9%
Very low(< 50)23%

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
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
Unknown
Mitochondrial disorders

Disease associations (Open Targets)

anauxetic dysplasia
0.73
hereditary disease
0.47
Hodgkins lymphoma
0.26
placental retention
0.25
neurodegenerative disease
0.18
breast cancer
0.09
breast carcinoma
0.07
gout
0.05
skeletal dysplasia
0.04
Abnormality of the skeletal system
0.03

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

Protein function (UniProt)

Pyrin domain-containing protein 1

Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro-caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS