JPH1

Chr 8q21.11

junctophilin 1

Aliases:: JP-1, JP1
MANE:: ENST00000342232.5

OMIM: 605266 ↗NCBI: 56704 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

JPH1 · Q9HDC5

v62025-08-01

Predicted Aligned Error matrix for JPH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.4/ 100

Low

661 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)10%
Low(50–70)5%
Very low(< 50)47%

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
Clefting
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital myopathy 25
0.60
type 2 diabetes mellitus
0.46
congenital myopathy
0.46
Abnormality of the skeletal system
0.35
COVID-19
0.30
Barrett esophagus
0.29
lower urinary tract calculus
0.29
phobic disorder
0.28
Charcot-Marie-Tooth disease axonal type 2K
0.15
femoral neck fracture
0.11

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

Protein function (UniProt)

Junctophilin-1

Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes