MPC1

Chr 6q27

mitochondrial pyruvate carrier 1

Aliases:: dJ68L15.3, CGI-129, SLC54A1
MANE:: ENST00000360961.11

OMIM: 614738 ↗NCBI: 51660 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MPC1 · Q9Y5U8

v62025-08-01

Predicted Aligned Error matrix for MPC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.8/ 100

Very high

109 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)17%
Low(50–70)0%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mitochondrial pyruvate carrier deficiency
0.73
mitochondrial disease
0.37
inborn mitochondrial metabolism disorder
0.37
bronchial disorder
0.24
Fraser syndrome
0.11
colorectal carcinoma
0.09
neoplasm
0.09
plasma cell myeloma
0.09
prostate carcinoma
0.09
Familial prostate cancer
0.08

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

Protein function (UniProt)

Mitochondrial pyruvate carrier 1

Mediates the uptake of pyruvate into mitochondria to maintain the balance between glycolysis and oxidative phosphorylation (PubMed:22628558, PubMed:26253029, PubMed:27317664, PubMed:40044865, PubMed:40101766). Plays an essential role in cellular metabolism (PubMed:40044865, PubMed:40101766)