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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UCP1 Gene

protein-coding   GIFtS: 65
GCID: GC04M141480

Uncoupling Protein 1 (Mitochondrial, Proton Carrier)


(Previous symbol: UCP)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Uncoupling Protein 1 (Mitochondrial, Proton Carrier)1 2     Mitochondrial Brown Fat Uncoupling Protein 12
UCP1 2 3     thermogenin2
Solute Carrier Family 25 Member 72 3     Thermogenin3
SLC25A72 3     UCP 13

External Ids:    HGNC: 125171   Entrez Gene: 73502   Ensembl: ENSG000001094247   OMIM: 1137305   UniProtKB: P258743   
ORGUL members:         
NONCODE14:n340238      

Export aliases for UCP1 gene to outside databases

Previous GC identifers: GC04M142344 GC04M141798 GC04M141947 GC04M142058 GC04M141838 GC04M141700 GC04M137211


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (mitochondrial, proton carrier)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with UCP1 include multiple symmetric lipomatosis, and multiple symmetrical lipomatosis, and among its related super-pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and The proton buffering model. GO annotations related to this gene include oxidative phosphorylation uncoupler activity. An important paralog of this gene is UCP3.

UniProtKB/Swiss-Prot: UCP1_HUMAN, P25874
Function: UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial
membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the
form of heat

Gene Wiki entry for UCP1 (Thermogenin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UCP1 gene promoter:
         ATF-2   NF-AT   HNF-4alpha1   CREB   CRE-BP1   NF-AT2   POU2F1   deltaCREB   POU2F1a   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUCP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UCP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UCP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q28-q31   Ensembl cytogenetic band:  4q31.1   HGNC cytogenetic band: 4q28-q31

UCP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UCP1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M141480:  view genomic region     (about GC identifiers)

Start:
141,480,588 bp from pter      End:
141,489,959 bp from pter
Size:
9,372 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UCP1_HUMAN, P25874 (See protein sequence)
Recommended Name: Mitochondrial brown fat uncoupling protein 1  
Size: 307 amino acids; 33005 Da
Subunit: Acts as a dimer forming a proton channel
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: Q13218 Q4KMZ3 Q68G66

Explore the universe of human proteins at neXtProt for UCP1: NX_P25874

Explore proteomics data for UCP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P25874

  • UCP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UCP1 Protein Expression
    REFSEQ proteins: NP_068605.1  
    ENSEMBL proteins: 
     ENSP00000262999  
    Reactome Protein details: P25874
    Human Recombinant Protein Products for UCP1: 
    EMD Millipore Purified and/or Recombinant UCP1 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for UCP1
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    Novus Biologicals UCP1 Protein
    Novus Biologicals UCP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UCP1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA9054939
    GO:0005740mitochondrial envelope ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral to membrane IEA--

    UCP1 for ontologies           About GeneDecksing



    UCP1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for UCP1 

    Assay Products for UCP1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for UCP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UCP1 
    Cloud-Clone Corp. CLIAs for UCP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Uncoupling protein 1 
    Mitochondrial uncoupling proteins

    3 InterPro protein domains:
     IPR023395 Mt_carrier_dom
     IPR002030 Mit_uncoupling
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry P25874

    ProtoNet protein and cluster: P25874

    1 Blocks protein domain: IPB002030 Mitochondrial brown fat uncoupling protein signature

    UniProtKB/Swiss-Prot: UCP1_HUMAN, P25874
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    UCP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UCP1_HUMAN, P25874
    Function: UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial
    membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the
    form of heat

         Genatlas biochemistry entry for UCP1:
    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 5'utr polymorphism in obesity and diabetes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0017077oxidative phosphorylation uncoupler activity IEA--
         
    UCP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UCP1:
     Decreased viability of wild-ty 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ucp1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size 
     homeostasis/metabolism  other  vision/eye 

    UCP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ucp1tm1Kz for UCP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UCP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UCP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UCP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UCP1 

    miRNA
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    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UCP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UCP1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Electron Transport Chain0.75
    Huntington's disease0.47
    2The fatty acid cycling model
    Mitochondrial Uncoupling Proteins1.00
    The fatty acid cycling model1.00
    The proton buffering model1.00
    3Metabolism
    Metabolism0.40
    4PKA activation in glucagon signalling
    Development Beta-adrenergic receptors signaling via cAMP0.32
    5PPAR signaling pathway
    PPAR signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for UCP1
        Development Beta-adrenergic receptors signaling via cAMP


    1 GeneGo (Thomson Reuters) Pathway for UCP1
        Development Beta-adrenergic receptors signaling via cAMP

    2 BioSystems Pathways for UCP1
        Adipogenesis
    Electron Transport Chain

    5/6        Reactome Pathways for UCP1 (see all 6)
        The proton buffering model
    Mitochondrial Uncoupling Proteins
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    2         Kegg Pathways  (Kegg details for UCP1):
        PPAR signaling pathway
    Huntington's disease


    UCP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UCP1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for UCP1 (P258743 ENSP000002629994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOMM20Q153883, ENSP000003555664I2D: score=2 STRING: ENSP00000355566
    CIDEAO605433I2D: score=1 
    UCP2ENSP000003120294STRING: ENSP00000312029
    --ENSP000003393444STRING: ENSP00000339344
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006839mitochondrial transport IEA--
    GO:0015992proton transport TAS--
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--

    UCP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UCP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UCP1

    10/62 Novoseek inferred chemical compound relationships for UCP1 gene (see all 62)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pgc1 73.4 2 18287225 (1), 10585775 (1)
    fatty acid 67.9 61 11468281 (3), 8626410 (3), 11004454 (3), 12807871 (2) (see all 33)
    atp 63.5 62 12734183 (4), 16180337 (3), 1756853 (2), 8132485 (2) (see all 41)
    hydrogen 57.5 65 11468281 (3), 10736318 (2), 10868929 (2), 11721329 (2) (see all 42)
    gdp 57.2 17 9813009 (1), 9271366 (1), 9562032 (1), 10622736 (1) (see all 13)
    carboxyatractyloside 55.7 3 1420170 (1), 15146050 (1)
    glucose 54.3 47 19833897 (2), 17873137 (2), 18593740 (2), 20338842 (2) (see all 26)
    adp 50.5 12 1756853 (2), 8132485 (2), 9813009 (1), 11171965 (1) (see all 8)
    lipid 49.9 34 11870545 (4), 12475182 (3), 12753942 (2), 17242157 (2) (see all 20)
    3,3'-dihexyloxacarbocyanine iodide 48.6 1 11285367 (1)

    Search CenterWatch for drugs/clinical trials and news about UCP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UCP1 gene: 
    NM_021833.4  

    Unigene Cluster for UCP1:

    Uncoupling protein 1 (mitochondrial, proton carrier)
    Hs.249211  [show with all ESTs]
    Unigene Representative Sequence: BC098258
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000262999(uc011chj.2 uc011chk.2)
    miRNA
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    Additional mRNA sequence: 

    BC069556.1 BC096736.1 BC098168.1 BC098258.1 BC098352.1 U28480.1 

    1 DOTS entry:

    DT.405464 

    4 AceView cDNA sequences:

    BC069556 NM_021833 U28480 BG203995 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for UCP1    About this scheme

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


    ECgene alternative splicing isoforms for UCP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UCP1 expression in normal human tissues (normalized intensities)      UCP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UCP1 Expression
    About this image


    UCP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 21 entries
             Sacral Brown Adipocyte Cells Sacral Brown Adipose Depot
             Body Subcutaneous White Adipose
             Immature adipocyte-like cells ( Generation of adipocytes from human pluripotent...
     
     Breast (Uncategorized)
             mammary gland   
     
     Endothelium (Cardiovascular System)
             aorta   
     
     Kidney (Urinary System)

    See UCP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UCP1

    SOURCE GeneReport for Unigene cluster: Hs.249211

    UniProtKB/Swiss-Prot: UCP1_HUMAN, P25874
    Tissue specificity: Brown adipose tissue

        SABiosciences Expression via Pathway-Focused PCR Arrays including UCP1 (see all 11): 
              Insulin Signaling Pathway in human mouse rat
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              Mitochondrial Energy Metabolism in human mouse rat
              Cardiotoxicity in human mouse rat
              Adipogenesis in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UCP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for UCP1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ucp11 , 5 uncoupling protein 1 (mitochondrial, proton carrier)1, 5 79.98(n)1
    79.87(a)1
      8 (39.65 cM)5
    222271  NM_009463.31  NP_033489.11 
     832903485 
    lizard
    (Anolis carolinensis)
    Reptilia UCP36
    Uncharacterized protein
    56(a)
    1 ↔ 1
    GL343978.1(51675-84185)
    zebrafish
    (Danio rerio)
    Actinopterygii ucp16
    ucp36
    uncoupling protein 3
    61(a)
    54(a)
    1 ↔ 1
    possible ortholog
    1(53870145-53884605)
    10(37894303-37900774)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DIC16
    Mitochondrial dicarboxylate carrier, integral memb...
    29(a)
    1 → many
    XII(826977-827873)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UCP1 gene
    UCP32  UCP22  SLC25A142  SLC25A112  ENSG000002626602  SLC25A102  SLC25A302  SLC25A272  
    9 SIMAP similar genes for UCP1 using alignment to 2 protein entries:     UCP1_HUMAN (see all proteins):
    UCP2    SLC25A10    SLC25A14    SLC25A27    SLC25A11    UCP3
    SLC25A30    SLC25A34    SLC25A35

    UCP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: UCP1_HUMAN, P25874
    Polymorphism: The Thr-64 polymorphism is associated with an increased waist-to-hip ratio. The Leu-229 polymorphism
    is associated with susceptibility to type II diabetes mellitus


    10/233 SNPs in UCP1 are shown (see all 233)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58624871,2
    C--137212355(+) GCTGC-/A/A   
       A
    /AAA
    AAAAA
    2 -- int1 cds1 trp31CSA 2
    rs1120193881,2
    C--137215219(+) TTGTA-/TTTTTT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs362023381,2
    C--137219716(+) CTACCGTGTGT  
      GTGT
    /-
    GTGTG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1477019721,2
    --141264991(+) CTCTTA/GCACCC 1 -- ds50010--------
    rs790012461,2
    C,F--141265437(+) ATGATC/ACAGTC 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1461143271,2
    C,F--141265588(+) CAAGAA/GGGAAG 2 L F mis11Minor allele frequency- G:0.00NA 4550
    rs1421455261,2
    C--141265622(+) TCATCA/GTTCGA 1 -- int10--------
    rs1179494891,2
    C,F--141265683(+) CTGCCG/ACCCAG 1 -- int11Minor allele frequency- A:0.03EA 120
    rs1459184761,2
    --141265725(+) TGCAAC/TCTCGA 1 -- int10--------
    rs787242851,2
    F--141265957(+) CAACAC/TAGCCC 1 -- int11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for UCP1 (141480588 - 141489959 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UCP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv880165CNV Loss21882294
    nsv830088CNV Gain17160897


    Human Gene Mutation Database (HGMD): UCP1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UCP1
    DNA2.0 Custom Variant and Variant Library Synthesis for UCP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 113730   
    OMIM disorders: 601665  
    20/38 diseases for UCP1 (see all 38):    About MalaCards
    multiple symmetric lipomatosis    multiple symmetrical lipomatosis    lipomatosis    morbid obesity
    sudden infant death syndrome    diabetic neuropathy    familial combined hyperlipidemia    lipoma
    obesity, association with    insulinoma    metabolic disorders    spinal cord injury
    insulin resistance    lipodystrophy    obesity    pheochromocytoma
    cleft lip    diabetes mellitus    anorexia nervosa    hyperglycemia

    2 diseases from the University of Copenhagen DISEASES database for UCP1:
    Diabetes mellitus     Lipomatosis

    UCP1 for disorders           About GeneDecksing

    10/21 Novoseek inferred disease relationships for UCP1 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 73.7 105 10753048 (3), 11484071 (3), 10702757 (3), 11093283 (3) (see all 53)
    hibernoma 58.9 2 8468458 (1), 8054887 (1)
    lipomatosis, multiple symmetric 52.2 2 11095987 (1)
    insulin resistance 51.8 6 10999801 (2), 16034720 (1), 17397545 (1), 10337866 (1)
    insulin sensitivity 48.4 6 18059082 (2), 9398715 (1), 19136989 (1), 17531095 (1)
    metabolic disorder 38.7 8 10395193 (1), 19946892 (1), 15281018 (1), 10469165 (1) (see all 6)
    niddm 36.2 13 1959481 (2), 11484071 (1), 10403804 (1), 16338218 (1) (see all 6)
    sudden infant death syndrome 7.94 3 12029453 (2), 1584092 (1)
    lipoma 4.76 4 11095987 (2), 8468458 (1)
    cancer 4.29 16 8033632 (4), 18780286 (3), 16904608 (2), 9389065 (2) (see all 7)

    Genetic Association Database (GAD): UCP1
    Human Genome Epidemiology (HuGE) Navigator: UCP1 (60 documents)

    Export disorders for UCP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UCP1 gene, integrated from 9 sources (see all 474):
    (articles sorted by number of sources associating them with UCP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4. (PubMed id 2380264)1, 2, 3, 9 Cassard A.M.... Ricquier D. (1990)
    2. Uncoupling protein 1 and 3 polymorphisms are associated with waist- to-hip ratio. (PubMed id 12756473)1, 2, 4, 9 Herrmann S.M.... Brand E. (2003)
    3. A polymorphism in the 5' untranslated region and a Met229-->Leu variant in exon 5 of the human UCP1 gene are associated with susceptibility to type II diabetes mellitus. (PubMed id 11317671)1, 2, 4 Mori H.... Kasuga M. (2001)
    4. The effects of uncoupling protein-1 genotype on lipoprotein cholesterol level in Korean obese subjects. (PubMed id 15281018)1, 4, 9 Oh H.H....Yoon Y. (2004)
    5. The uncoupling protein 1 gene, UCP1, is expressed in mammalian islet cells and associated with acute insulin response to glucose in African American families from the IRAS Family Study. (PubMed id 17397545)1, 4, 9 Sale M.M....Norris J.M. (2007)
    6. Synergistic effect of polymorphisms of uncoupling protein 1 and beta3-adrenergic receptor genes on autonomic nervous system activity. (PubMed id 11439286)1, 4, 9 Shihara N....Tsuda K. (2001)
    7. Association of UCP1 genetic polymorphisms with blood pressure among Korean female subjects. (PubMed id 18955781)1, 4, 9 Cha M.H....Yoon Y. (2008)
    8. Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes. (PubMed id 12029453)1, 4, 9 Fatemi A....Strobl W. (2002)
    9. A haplotype at the UCP1 gene locus contributes to gen etic risk for type 2 diabetes in Asian Indians (CURES-72). (PubMed id 19943796)1, 4, 9 Vimaleswaran K.S....Mohan V. (2010)
    10. Absence of Association of Metabolic Syndrome with PPARGC1A, PPARG and UCP1 Gene Polymorphisms in Asian Indians. (PubMed id 18370824)1, 4, 9 Vimaleswaran K.S....Mohan V. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7350 HGNC: 12517 AceView: UCP1 Ensembl:ENSG00000109424 euGenes: HUgn7350
    ECgene: UCP1 Kegg: 7350 H-InvDB: UCP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UCP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UCP1 gene:
    Search GeneIP for patents involving UCP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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