UCP1

Chr 4

uncoupling protein 1

Also known as: SLC25A7, UCP

Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
3
Active trials
519
Pubs (1 yr)
P/LP submissions
P/LP missense
1.79
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.000
Z-score -0.70
OE 1.21 (0.811.79)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.22Z-score
OE missense 0.95 (0.841.08)
165 obs / 173.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.21 (0.811.79)
00.351.4
Missense OE?0.95 (0.841.08)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 15 / 12.4Missense obs/exp: 165 / 173.2Syn Z: -0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UCP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.