Human Gene UCP3 (ENST00000426995.2) from GENCODE V44
  Description: Homo sapiens uncoupling protein 3 (UCP3), transcript variant short, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_022803)
RefSeq Summary (NM_022803): Mitochondrial uncoupling proteins (UCP) are members of the larger 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. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008].
Gencode Transcript: ENST00000426995.2
Gencode Gene: ENSG00000175564.13
Transcript (Including UTRs)
   Position: hg38 chr11:74,003,448-74,009,085 Size: 5,638 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr11:74,003,823-74,007,042 Size: 3,220 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:74,003,448-74,009,085)mRNA (may differ from genome)Protein (275 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: UCP3_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial uncoupling protein 3; Short=UCP 3; AltName: Full=Solute carrier family 25 member 9;
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.
SUBCELLULAR 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.
DISEASE: 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.
SIMILARITY: Belongs to the mitochondrial carrier family.
SIMILARITY: Contains 3 Solcar repeats.
SEQUENCE CAUTION: Sequence=AAC51785.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: UCP3
Diseases sorted by gene-association score: obesity* (930), obesity, ucp3-related* (100), diabetes mellitus, noninsulin-dependent (2), overnutrition (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.36 RPKM in Muscle - Skeletal
Total median expression: 107.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.30203-0.405 Picture PostScript Text
3' UTR -98.80375-0.263 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002030 - Mit_uncoupling
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein

ModBase Predicted Comparative 3D Structure on P55916
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0017077 oxidative phosphorylation uncoupler activity

Biological Process:
GO:0000303 response to superoxide
GO:0001666 response to hypoxia
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006839 mitochondrial transport
GO:0007568 aging
GO:0007584 response to nutrient
GO:0007585 respiratory gaseous exchange
GO:0009409 response to cold
GO:0014823 response to activity
GO:0032868 response to insulin
GO:0032870 cellular response to hormone stimulus
GO:0048545 response to steroid hormone
GO:0051384 response to glucocorticoid
GO:1902600 hydrogen ion transmembrane transport
GO:1990542 mitochondrial transmembrane transport
GO:1990845 adaptive thermogenesis

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  KJ904584 - Synthetic construct Homo sapiens clone ccsbBroadEn_13978 UCP3-like gene, encodes complete protein.
BC008392 - Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier), mRNA (cDNA clone MGC:14479 IMAGE:4291158), complete cds.
U84763 - Homo sapiens UCP3 mRNA, complete cds.
AF011449 - Homo sapiens uncoupling protein-3 (UCP3) mRNA, nuclear gene encoding mitochondrial protein, complete cds.
AF001787 - Homo sapiens uncoupling protein 3 mRNA, complete cds.
AB529052 - Synthetic construct DNA, clone: pF1KB3659, Homo sapiens UCP3 gene for uncoupling protein 3, without stop codon, in Flexi system.
KU178371 - Homo sapiens uncoupling protein 3 isoform 1 (UCP3) mRNA, partial cds, alternatively spliced.
KU178372 - Homo sapiens uncoupling protein 3 isoform 2 (UCP3) mRNA, partial cds.
AK092685 - Homo sapiens cDNA FLJ35366 fis, clone SKMUS2001215, highly similar to MITOCHONDRIAL UNCOUPLING PROTEIN 3.
AK309873 - Homo sapiens cDNA, FLJ99914.
U82818 - Homo sapiens UCP3S mRNA, complete cds.
AK291889 - Homo sapiens cDNA FLJ78613 complete cds, highly similar to Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), transcript variant short, mRNA.
AK290630 - Homo sapiens cDNA FLJ77071 complete cds, highly similar to Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), transcript variant short, mRNA.
JD485230 - Sequence 466254 from Patent EP1572962.
JD366891 - Sequence 347915 from Patent EP1572962.
JD151029 - Sequence 132053 from Patent EP1572962.
JD398880 - Sequence 379904 from Patent EP1572962.
JD190556 - Sequence 171580 from Patent EP1572962.
CU678945 - Synthetic construct Homo sapiens gateway clone IMAGE:100020175 5' read UCP3 mRNA.
JD108857 - Sequence 89881 from Patent EP1572962.
JD436872 - Sequence 417896 from Patent EP1572962.
JD355192 - Sequence 336216 from Patent EP1572962.
JD449686 - Sequence 430710 from Patent EP1572962.
JD085410 - Sequence 66434 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55916 (Reactome details) participates in the following event(s):

R-HSA-166220 FA anion diffuses laterally to UCP
R-HSA-166387 The FA anion diffuses away laterally from UCP
R-HSA-166214 FA anion flip-flops to the opposite surface
R-HSA-170026 Protons are translocated from the intermembrane space to the matrix
R-HSA-167826 The fatty acid cycling model
R-HSA-166187 Mitochondrial Uncoupling Proteins
R-HSA-167827 The proton buffering model
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000426995.1, NM_022803, O60475, P55916, Q96HL3, SLC25A9, uc001ous.1, uc001ous.2, uc001ous.3, UCP3_HUMAN
UCSC ID: ENST00000426995.2
RefSeq Accession: NM_022803
Protein: P55916 (aka UCP3_HUMAN)
CCDS: CCDS44677.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.