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UCP1 Gene(Protein Coding)

Uncoupling Protein 1

GCID:
GC04M140559
GIFtS:
54
Genes Participants
UDN Logo

Aliases for UCP1 Gene

Aliases for UCP1 Gene

  • Uncoupling Protein 1 2 3 5
  • Uncoupling Protein 1 (Mitochondrial, Proton Carrier) 2 3
  • Solute Carrier Family 25 Member 7 3 4
  • Thermogenin 3 4
  • SLC25A7 3 4
  • UCP 3 4
  • Mitochondrial Brown Fat Uncoupling Protein 1 3
  • UCP 1 4

External Ids for UCP1 Gene

Previous HGNC Symbols for UCP1 Gene

  • UCP

Previous GeneCards Identifiers for UCP1 Gene

  • GC04M142344
  • GC04M141798
  • GC04M141947
  • GC04M142058
  • GC04M141838
  • GC04M141700
  • GC04M141480
  • GC04M137211

Summaries for UCP1 Gene

Entrez Gene Summary for UCP1 Gene

  • 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]

GeneCards Summary for UCP1 Gene

UCP1 (Uncoupling Protein 1) is a Protein Coding gene. Diseases associated with UCP1 include Body Mass Index Quantitative Trait Locus 11 and Lipomatosis, Multiple Symmetric. Among its related pathways are The fatty acid cycling model and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidative phosphorylation uncoupler activity. An important paralog of this gene is UCP3.

UniProtKB/Swiss-Prot for UCP1 Gene

  • Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane (PubMed:24196960). However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in an apparent transport of protons activated by LCFAs. Thereby, dissipates the mitochondrial proton gradient and converts the energy of substrate oxydation into heat instead of ATP. Regulates the production of reactive oxygen species/ROS by mitochondria (By similarity).

Gene Wiki entry for UCP1 Gene

Additional gene information for UCP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UCP1 Gene

Genomics for UCP1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for UCP1 Gene

Promoters and enhancers for UCP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04I140568 Enhancer 0.5 Ensembl 550.8 -0.1 -58 1.1 CTCF SUZ12 POLR2A SIN3A EZH2 UCP1 CLGN LOC101927516 RN7SL152P
GH04I140567 Enhancer 0.3 Ensembl 550.8 +0.9 901 0.4 EZH2 UCP1 CLGN ELMOD2
GH04I140753 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.5 -187.2 -187205 4.3 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 SP3 KAT8 TBC1D9 GC04P140757 ENSG00000273472 ENSG00000248335 UCP1
GH04I140372 Promoter/Enhancer 1.5 Ensembl ENCODE 10.6 +195.3 195272 2.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B SCOC-AS1 CLGN UCP1 SCOC
GH04I140725 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.1 -159.1 -159108 5.5 CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 ETS1 ATF7 FOS TBC1D9 UCP1 ENSG00000248335
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UCP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UCP1 gene promoter:

Genomic Locations for UCP1 Gene

Genomic Locations for UCP1 Gene
chr4:140,559,394-140,568,902
(GRCh38/hg38)
Size:
9,509 bases
Orientation:
Minus strand
chr4:141,480,588-141,489,959
(GRCh37/hg19)

Genomic View for UCP1 Gene

Genes around UCP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UCP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UCP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for UCP1 Gene

Proteins for UCP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for UCP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25874-UCP1_HUMAN
    Recommended name:
    Mitochondrial brown fat uncoupling protein 1
    Protein Accession:
    P25874
    Secondary Accessions:
    • Q13218
    • Q4KMZ3
    • Q68G66

    Protein attributes for UCP1 Gene

    Size:
    307 amino acids
    Molecular mass:
    33005 Da
    Quaternary structure:
    • Most probably functions as a monomer. Binds one purine nucleotide per monomer (By similarity). However, has also been suggested to function as a homodimer or a homotetramer (PubMed:24196960). Tightly associates with cardiolipin in the mitochondrion inner membrane; may stabilize and regulate its activity (PubMed:24196960).

neXtProt entry for UCP1 Gene

Protein Expression for UCP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for UCP1 Gene

  • May undergo sulfenylation upon cold exposure. May increase the sensitivity of UCP1 thermogenic function to the activation by noradrenaline probably through structural effects.
  • May undergo ubiquitin-mediated proteasomal degradation.

Other Protein References for UCP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UCP1 (UCP1)
  • Abcam antibodies for UCP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for UCP1

No data available for DME Specific Peptides for UCP1 Gene

Domains & Families for UCP1 Gene

Gene Families for UCP1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for UCP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for UCP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P25874

UniProtKB/Swiss-Prot:

UCP1_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with UCP1: view

Function for UCP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for UCP1 Gene

GENATLAS Biochemistry:
uncoupling protein of inner mitochondrial membrane 1,dissipating the proton electrochemical gradient and uncoupling fuel oxidation from ADP-ATP conversion,expressed in brown adipose tissue,regulated by PPARA and PPARG in mice,with a minor role of the 5utr polymorphism in obesity and diabetes
UniProtKB/Swiss-Prot EnzymeRegulation:
Has no constitutive proton transporter activity and has to be activated by long-chain fatty acids/LCFAs. Inhibited by purine nucleotides. Both purine nucleotides and LCFAs bind the cytosolic side of the transporter and directly compete to activate or inhibit it. Activated by noradrenaline and reactive oxygen species.
UniProtKB/Swiss-Prot Function:
Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane (PubMed:24196960). However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in an apparent transport of protons activated by LCFAs. Thereby, dissipates the mitochondrial proton gradient and converts the energy of substrate oxydation into heat instead of ATP. Regulates the production of reactive oxygen species/ROS by mitochondria (By similarity).

Gene Ontology (GO) - Molecular Function for UCP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017077 oxidative phosphorylation uncoupler activity IEA,ISS --
GO:0022857 transmembrane transporter activity IDA 24196960
GO:0032555 purine ribonucleotide binding IEA,ISS --
GO:0036041 long-chain fatty acid binding ISS,IEA --
GO:1901612 cardiolipin binding ISS --
genes like me logo Genes that share ontologies with UCP1: view
genes like me logo Genes that share phenotypes with UCP1: view

Animal Models for UCP1 Gene

MGI Knock Outs for UCP1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UCP1 Gene

Localization for UCP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UCP1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UCP1 gene
Compartment Confidence
mitochondrion 5
extracellular 2
peroxisome 2
nucleus 2
cytosol 2
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for UCP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 9054939
GO:0005740 mitochondrial envelope IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with UCP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UCP1 Gene

Pathways & Interactions for UCP1 Gene

genes like me logo Genes that share pathways with UCP1: view

SIGNOR curated interactions for UCP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UCP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002024 diet induced thermogenesis IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006839 mitochondrial transport IBA --
genes like me logo Genes that share ontologies with UCP1: view

Drugs & Compounds for UCP1 Gene

Products:

  1. Drug

(33) Drugs for UCP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(29) Additional Compounds for UCP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with UCP1: view

Transcripts for UCP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for UCP1 Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UCP1 Gene

Uncoupling protein 1 (mitochondrial, proton carrier):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UCP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2:

Relevant External Links for UCP1 Gene

GeneLoc Exon Structure for
UCP1
ECgene alternative splicing isoforms for
UCP1

Expression for UCP1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UCP1 Gene

mRNA expression in normal human tissues for UCP1 Gene
mRNA expression by BioGPS for UCP1 GenemRNA expression by GTEx for UCP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UCP1 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x16.0), Breast - Mammary Tissue (x6.6), and Heart - Atrial Appendage (x4.9).

Protein differential expression in normal tissues from HIPED for UCP1 Gene

This gene is overexpressed in Adrenal (64.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UCP1 Gene



Protein tissue co-expression partners for UCP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UCP1 Gene:

UCP1

SOURCE GeneReport for Unigene cluster for UCP1 Gene:

Hs.249211

mRNA Expression by UniProt/SwissProt for UCP1 Gene:

P25874-UCP1_HUMAN
Tissue specificity: Brown adipose tissue.

Evidence on tissue expression from TISSUES for UCP1 Gene

  • Muscle(2.7)
  • Nervous system(2.3)
  • Blood(2.2)
  • Thyroid gland(2.2)
  • Liver(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with UCP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for UCP1 Gene

Orthologs for UCP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UCP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia UCP1 33 34
  • 96.83 (n)
cow
(Bos Taurus)
 Mammalia UCP1 33 34
  • 84.7 (n)
dog
(Canis familiaris)
 Mammalia UCP1 33 34
  • 80.62 (n)
mouse
(Mus musculus)
 Mammalia Ucp1 33 16 34
  • 79.98 (n)
rat
(Rattus norvegicus)
 Mammalia Ucp1 33
  • 79.54 (n)
oppossum
(Monodelphis domestica)
 Mammalia UCP1 34
  • 65 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia UCP1 34
  • 64 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii ucp1 34
  • 61 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Dic1 34
  • 28 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DIC1 34
  • 29 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10779 34
  • 32 (a)
 OneToMany
Species where no ortholog for UCP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UCP1 Gene

ENSEMBL:
Gene Tree for UCP1 (if available)
TreeFam:
Gene Tree for UCP1 (if available)

Paralogs for UCP1 Gene

Paralogs for UCP1 Gene

(9) SIMAP similar genes for UCP1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with UCP1: view

Variants for UCP1 Gene

Sequence variations from dbSNP and Humsavar for UCP1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000016299 -- 140,568,792(-) C/G 5_prime_UTR_variant
rs1000023733 -- 140,556,515(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000081543 -- 140,567,204(-) C/G intron_variant
rs1000121916 -- 140,568,168(-) C/G intron_variant
rs1000305568 -- 140,562,797(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UCP1 Gene

Variant ID Type Subtype PubMed ID
nsv830088 CNV gain 17160897

Variation tolerance for UCP1 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.72; 73.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UCP1 Gene

Human Gene Mutation Database (HGMD)
UCP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UCP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UCP1 Gene

Disorders for UCP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for UCP1 Gene - From: HGMD, OMIM, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
body mass index quantitative trait locus 11
  • bmiq11
lipomatosis, multiple symmetric
  • msl
lipomatosis
  • benign symmetrical lipomatosis
multiple symmetrical lipomatosis
  • lipomatosis, familial benign cervical
overnutrition
- elite association - COSMIC cancer census association via MalaCards
Search UCP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UCP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UCP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UCP1 Gene

Publications for UCP1 Gene

  1. Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4. (PMID: 2380264) Cassard AM … Ricquier D (Journal of cellular biochemistry 1990) 2 3 4 22 58
  2. A haplotype at the UCP1 gene locus contributes to genetic risk for type 2 diabetes in Asian Indians (CURES-72). (PMID: 19943796) Vimaleswaran KS … Mohan V (Metabolic syndrome and related disorders 2010) 3 22 44 58
  3. UCP1 -3826 AG+GG genotypes, adiponectin, and leptin/adiponectin ratio in severe obesity. (PMID: 19474520) Labruna G … Sacchetti L (Journal of endocrinological investigation 2009) 3 22 44 58
  4. Low-calorie diet-induced reduction in serum HDL cholesterol is ameliorated in obese women with the -3826 G allele in the uncoupling protein-1 gene. (PMID: 19966534) Hamada T … Sakane N (The Tohoku journal of experimental medicine 2009) 3 22 44 58
  5. Association of UCP1 genetic polymorphisms with blood pressure among Korean female subjects. (PMID: 18955781) Cha MH … Yoon Y (Journal of Korean medical science 2008) 3 22 44 58

Products for UCP1 Gene

Sources for UCP1 Gene

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