SLCtables

SLC25A9

Protein name: UCP3 (uncoupling protein 3) Aliases: proton carrier Substrates: H+ Transport type: Facilitated transporter Tissue and cellular expression: skeletal muscle, lung Subcellular expression: inner mitochondrial membrane Disease: (obesity, type II diabetes) Locus: 11q13 Sequence ID: NP_003347.1, NM_003356.3 NP_073714.1, NM_022803.2 Gene ID: 7352 Splice variants: 2 splice variants

UCP3_HUMAN (UniProt)

Gene names: UCP3, SLC25A9
Protein names and data: UCP3_HUMAN, Full=Mitochondrial uncoupling protein 3;Short=UCP 3, Full=Solute carrier family 25 member 9; Length: 312 a.a., Mass: 34216 Da,
fasta formatted sequence
Function: UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation. As a result, energy is dissipated in the form of heat. May play a role in the modulation of tissue respiratory control. Participates in thermogenesis and energy balance
Disease: (OMIM: 601665 602044) Defects in UCP3 may be involved in obesity (OBESITY) [MIM:601665]. It is a condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat
Cellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Tissue specificity: Only in skeletal muscle and heart. Is more expressed in glycolytic than in oxidative skeletal muscles

Database cross-references

UniProt: P55916
NextBio: 28782
OMIM: 601665 602044
Ensembl: ENST00000426995
GeneCard: GC11M074000
TCDB: 2.A.29.3.5
Guide to Pharmacology: SLC25A9 (1068)
Mitochondrial uncoupling proteins (1068)
HGNC: HGNC:12519

Genetic variants

See also Ensembl:ENST00000426995

9 - 9 V -> M (in dbSNP:rs8179180). VAR_050136 8179180
70 - 70 R -> W (in severe obesity with type 2 diabetes; dbSNP:rs17848368). VAR_004407 17848368
102 - 102 V -> I (in obesity; dbSNP:rs2229707). VAR_004408 2229707