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UCP1 Gene

protein-coding GIFtS: 63
GCID: GC04M141480

Uncoupling Protein 1 (Mitochondrial, Proton Carrier)

(Previous symbol: UCP)

See related diseases
at

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

Export aliases for UCP1 gene to outside databases

Previous GC identifers: GC04M142344 GC04M141798 GC04M141947 GC04M142058 GC04M141838 GC04M141700 GC04M137211

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with UCP1 include multiple symmetric lipomatosis, and multiple symmetrical lipomatosis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000004.12 NT_016354.20 NC_018915.2

Regulatory elements:

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 plasmid: UCP1 promoter sequence

Search Chromatin IP Primers for UCP1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

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:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See UCP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_068605.1

ENSEMBL proteins:

ENSP00000262999

Reactome Protein details: P25874

UCP1 Human Recombinant Protein Products:

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UCP1 Antibody Products:

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	Novus Biologicals UCP1 Antibodies
	Abcam antibodies for UCP1
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	ThermoFisher Antibodies for UCP1
	LSBio Antibodies in human, mouse, rat for UCP1

UCP1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for UCP1
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	GenScript Custom Assay Services for UCP1
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	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)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0017077	oxidative 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/body
homeostasis/metabolism	other	vision/eye

UCP1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Ucp1^tm1Kz for UCP1

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UCP1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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 Products:		Block miRNA regulation of human, mouse, rat UCP1 using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate UCP1
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for UCP1
		Predesigned siRNA for gene silencing in human, mouse, rat UCP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for UCP1

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		GenScript: all cDNA clones in your preferred vector: UCP1 (NM_021833)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for UCP1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for UCP1
		Browse ESI BIO Cell Lines and PureStem Progenitors for UCP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UCP1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

UCP1_HUMAN, P25874: Mitochondrion inner membrane; Multi-pass membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
cytosol	2
nucleus	2
peroxisome	2
plasma membrane	2
extracellular	1

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Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	9054939
GO:0005740	mitochondrial envelope	--	--
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0016021	integral component of membrane	IEA	--

UCP1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for UCP1 About (see all 6)

See pathways by source

SuperPath

Contained pathways About

Respiratory 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 transport	0.71
	Electron Transport Chain	0.75			Huntington's disease	0.45

The fatty acid cycling model

	The fatty acid cycling model			Mitochondrial Uncoupling Proteins	0.00
	The proton buffering model	0.00

Metabolism

Metabolism

0.38

Ca-dependent events

Development Beta adrenergic receptors signaling via cAMP

0.32

PPAR signaling pathway

PPAR signaling pathway

Pathways by source See SuperPaths
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for UCP1

Development Beta-adrenergic receptors signaling via cAMP

2 BioSystems Pathways for UCP1

	Adipogenesis
	Electron Transport Chain

2 Reactome Pathways for UCP1

	The proton buffering model
	The fatty acid cycling model

2 Kegg Pathways (Kegg details for UCP1):

	PPAR signaling pathway
	Huntington's disease

UCP1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler 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

Interactions:

GeneGlobe Interaction Network for UCP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

Selected Interacting proteins for UCP1 (P25874³ ENSP00000262999⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TOMM20	Q15388³, ENSP00000355566⁴	I2D: score=2 STRING: ENSP00000355566
CIDEA	O60543³	I2D: score=1
UCP2	ENSP00000312029⁴	STRING: ENSP00000312029
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
UBB	ENSP00000304697⁴	STRING: ENSP00000304697

About this table

Gene Ontology (GO): Selected biological process terms (see all 7): About this table

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

UCP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for UCP1

Selected 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)

UCP1 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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 Products:		Block miRNA regulation of human, mouse, rat UCP1 using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate UCP1
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		GenScript: all cDNA clones in your preferred vector: UCP1 (NM_021833)
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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat UCP1
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		QuantiFast Probe-based Assays in human, mouse, rat UCP1

Additional mRNA sequence:

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

1 DOTS entry:

DT.405464

4 AceView cDNA sequences:

NM_021833 BC069556 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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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UCP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

UCP1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Adipose (Muscoskeletal System) fully expand to see all 23 entries
Sacral Brown Adipocyte Cells Sacral Brown Adipose Depot
Body Subcutaneous White Adipose
Brown adipocyte-like cells

Kidney (Urinary System)

UCP1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

UCP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.249211

UniProtKB/Swiss-Prot: UCP1_HUMAN, P25874

Tissue specificity: Brown adipose tissue

Pathway & Disease-focused RT² Profiler 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

Primer Products:		OriGene qPCR primer pairs and template standards for UCP1 OriGene qSTAR qPCR primer pairs in human, mouse for UCP1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat UCP1
		QuantiTect SYBR Green Assays in human, mouse, rat UCP1
		QuantiFast Probe-based Assays in human, mouse, rat UCP1

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

Orthologs for UCP1 gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ucp1^{1 , 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
zebrafish (Danio rerio)	Actinopterygii	ucp1⁶	uncoupling protein 1	61(a)	1 ↔ 1	1(53870145-53884605) ENSDARG00000023151
fruit fly (Drosophila melanogaster)	Insecta	Dic1⁶	Dicarboxylate carrier 1	28(a)	many ↔ many	3R(9190661-9194813)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	DIC1⁶	Mitochondrial dicarboxylate carrier, integral memb...	29(a)	1 → many	XII(826977-827873) YLR348C

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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot

UCP1_HUMAN, P25874: 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

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs5862487^1,2	C	--	137212355(+)	`GCTGC-/A/A A/AAAAAAAA`	2	--	int¹ cds¹ trp³		1		CSA	2
rs112019388^1,2	C	--	137215219(+)	`TTGTA-/TTTTTT`	1	--	int¹		1		CSA	2
rs36202338^1,2	C	--	137219716(+)	`CTACCGTGTGT GTGT/-GTGTG`	1	--	int¹		1		CSA	2
rs147701972^1,2		--	141264991(+)	`CTCTTA/GCACCC`	1	--	ds500¹		0	--	--	--	--
rs79001246^1,2	C,F	--	141265437(+)	`ATGATC/ACAGTC`	1	--	ds500¹		1		WA	118
rs146114327^1,2	C,F	--	141265588(+)	`CAAGAA/GGGAAG`	2	L F	mis¹		1		NA	4550
rs142145526^1,2	C	--	141265622(+)	`TCATCA/GTTCGA`	1	--	int¹		0	--	--	--	--
rs117949489^1,2	C,F	--	141265683(+)	`CTGCCG/ACCCAG`	1	--	int¹		1		EA	120
rs145918476^1,2		--	141265725(+)	`TGCAAC/TCTCGA`	1	--	int¹		0	--	--	--	--
rs78724285^1,2	F	--	141265957(+)	`CAACAC/TAGCCC`	1	--	int¹		1		WA	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 ID	Type	Subtype	PubMed ID
nsv880165	CNV	Loss	21882294
nsv830088	CNV	Gain	17160897

Human Gene Mutation Database (HGMD): UCP1

Site Specific Mutation Identification with PCR Assays

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(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.)
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OMIM gene information: 113730
OMIM disorders: 601665
Selected diseases for UCP1 (see all 44):
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multiple symmetric lipomatosis multiple symmetrical lipomatosis lipomatosis obesity

acute insulin response morbid obesity familial combined hyperlipidemia sudden infant death syndrome

diabetic neuropathy insulinoma lipoma obesity, association with

diabetic nephropathy spinal cord injury pheochromocytoma insulin resistance

burns lipodystrophy cleft lip anorexia nervosa

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

Diabetes mellitus Lipomatosis

UCP1 for disorders About GeneDecksing

Selected 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)
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PubMed articles for UCP1 gene, integrated from 10 sources (see all 477):
(articles sorted by number of sources associating them with UCP1)

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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. (J. Cell. Biochem. 1990)
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. (J. Mol. Med. 2003)
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. (Diabetologia 2001)
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. (Metab. Clin. Exp. 2004)
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. (BMC Endocr Disord 2007)
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. (Int. J. Obes. Relat. Metab. Disord. 2001)
Association of UCP1 genetic polymorphisms with blood pressure among Korean female subjects. (PubMed id 18955781)^{1, 4, 9} Cha M.H....Yoon Y. (J. Korean Med. Sci. 2008)
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. (Eur. J. Pediatr. 2002)
A haplotype at the UCP1 gene locus contributes to genetic risk for type 2 diabetes in Asian Indians (CURES-72). (PubMed id 19943796)^{1, 4, 9} Vimaleswaran K.S....Mohan V. (Metab Syndr Relat Disord 2010)
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. (Metab Syndr Relat Disord 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(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)
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Entrez Gene: 7350	HGNC: 12517	AceView: UCP1	Ensembl:ENSG00000109424	euGenes: HUgn7350
ECgene: UCP1	Kegg: 7350	H-InvDB: UCP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UCP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UCP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for UCP1 gene:
Search GeneIP for patents involving UCP1

GeneCards and IP:
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UCP1 Gene

Uncoupling Protein 1 (Mitochondrial, Proton Carrier)

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Lipoma
Insulin Resistance
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Hyperlipidemia
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UCP1 Gene

Uncoupling Protein 1 (Mitochondrial, Proton Carrier)

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