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UCP1 uncoupling protein 1 [ Homo sapiens (human) ]

Gene ID: 7350, updated on 2-Nov-2024

Summary

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Official Symbol
UCP1provided by HGNC
Official Full Name
uncoupling protein 1provided by HGNC
Primary source
HGNC:HGNC:12517
See related
Ensembl:ENSG00000109424 MIM:113730; AllianceGenome:HGNC:12517
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UCP; SLC25A7
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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See UCP1 in Genome Data Viewer
Location:
4q31.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (140559431..140568961, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (143879138..143888662, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (141480585..141490115, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene MGAT4 family member D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141418967-141419468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141419469-141419968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15711 Neighboring gene ELMO domain containing 2 Neighboring gene RNA, 7SL, cytoplasmic 152, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141521261-141521798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141539361-141539964 Neighboring gene TBC1 domain family member 9 Neighboring gene trinucleotide repeat containing 18 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Uncoupling protein 1 binds one nucleotide per monomer and is stabilized by tightly bound cardiolipin. Lee Y, et al. Proc Natl Acad Sci U S A, 2015 Jun 2. PMID 26038550, Free PMC Article
  2. UCP1 genetic polymorphism (-3826 A/G) diminishes resting energy expenditure and thermoregulatory sympathetic nervous system activity in young females. Nagai N, et al. Int J Obes (Lond), 2011 Aug. PMID 21189472
  3. Human prostate cancer harbors the stem cell properties of bone marrow mesenchymal stem cells. Zhau HE, et al. Clin Cancer Res, 2011 Apr 15. PMID 21355075, Free PMC Article
  4. Uncoupling protein 1 gene -3826 A/G polymorphism is associated with weight loss on a short-term, controlled-energy diet in young women. Nagai N, et al. Nutr Res, 2011 Apr. PMID 21530798
  5. Two variants located in the upstream enhancer region of human UCP1 gene affect gene expression and are correlated with human longevity. Rose G, et al. Exp Gerontol, 2011 Nov. PMID 21827845

See all (193) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Comparative functional analysis reveals differential nucleotide sensitivity between human and mouse UCP1.
    Title: Comparative functional analysis reveals differential nucleotide sensitivity between human and mouse UCP1.
  2. UCP1 expression in human brown adipose tissue is inversely associated with cardiometabolic risk factors.
    Title: UCP1 expression in human brown adipose tissue is inversely associated with cardiometabolic risk factors.
  3. Loss of Uncoupling Protein 1 Expression in the Subcutaneous Adipose Tissue Predicts Childhood Obesity.
    Title: Loss of Uncoupling Protein 1 Expression in the Subcutaneous Adipose Tissue Predicts Childhood Obesity.
  4. Structural basis for the binding of DNP and purine nucleotides onto UCP1.
    Title: Structural basis for the binding of DNP and purine nucleotides onto UCP1.
  5. Structural basis of purine nucleotide inhibition of human uncoupling protein 1.
    Title: Structural basis of purine nucleotide inhibition of human uncoupling protein 1.
  6. Expressions of mRNA and encoded proteins of mitochondrial uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and mediastinal adipose tissue and associations with coronary artery disease.
    Title: Expressions of mRNA and encoded proteins of mitochondrial uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and mediastinal adipose tissue and associations with coronary artery disease.
  7. Increased uncoupling protein 1 levels are associated with attention deficit and hyperactivity disorder in medication-free children.
    Title: Increased uncoupling protein 1 levels are associated with attention deficit and hyperactivity disorder in medication-free children.
  8. Relationships between Uncoupling Protein Genes UCP1, UCP2 and UCP3 and Irisin Levels in Residents of the Coldest Region of Siberia.
    Title: Relationships between Uncoupling Protein Genes UCP1, UCP2 and UCP3 and Irisin Levels in Residents of the Coldest Region of Siberia.
  9. Chronic Fatty Acid Depletion Induces Uncoupling Protein 1 (UCP1) Expression to Coordinate Mitochondrial Inducible Proton Leak in a Human-Brown-Adipocyte Model.
    Title: Chronic Fatty Acid Depletion Induces Uncoupling Protein 1 (UCP1) Expression to Coordinate Mitochondrial Inducible Proton Leak in a Human-Brown-Adipocyte Model.
  10. Activating ligands of Uncoupling protein 1 identified by rapid membrane protein thermostability shift analysis.
    Title: Activating ligands of Uncoupling protein 1 identified by rapid membrane protein thermostability shift analysis.
Submit: New GeneRIF Correction See all GeneRIFs (148)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables cardiolipin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables long-chain fatty acid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables long-chain fatty acid binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables oxidative phosphorylation uncoupler activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxidative phosphorylation uncoupler activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables proton transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables purine ribonucleotide binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in adaptive thermogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adaptive thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in brown fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to cold IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to dehydroepiandrosterone IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to fatty acid ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to hormone stimulus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to reactive oxygen species ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in diet induced thermogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in proton transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of reactive oxygen species biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in response to cold IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to nutrient levels ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to temperature stimulus ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mitochondrial brown fat uncoupling protein 1
Names
solute carrier family 25 member 7
thermogenin
uncoupling protein 1 (mitochondrial, proton carrier)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012139.1 RefSeqGene

    Range
    4845..14375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021833.5 → NP_068605.1  mitochondrial brown fat uncoupling protein 1

    See identical proteins and their annotated locations for NP_068605.1

    Status: REVIEWED

    Source sequence(s)
    AC108019, BC098258
    Consensus CDS
    CCDS3753.1
    UniProtKB/Swiss-Prot
    P25874, Q13218, Q4KMZ3, Q68G66
    Related
    ENSP00000262999.3, ENST00000262999.4
    Conserved Domains (1) summary
    pfam00153
    Location:111 → 206
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    140559431..140568961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263206.4 → XP_005263263.1  mitochondrial brown fat uncoupling protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005263263.1

    UniProtKB/TrEMBL
    Q4KMT7
    Conserved Domains (1) summary
    pfam00153
    Location:108 → 205
    Mito_carr; Mitochondrial carrier protein

  2. XM_011532228.3 → XP_011530530.1  mitochondrial brown fat uncoupling protein 1 isoform X2

    Conserved Domains (1) summary
    pfam00153
    Location:111 → 206
    Mito_carr; Mitochondrial carrier protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    143879138..143888662 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350789.1 → XP_054206764.1  mitochondrial brown fat uncoupling protein 1 isoform X1

    UniProtKB/TrEMBL
    Q4KMT7

  2. XM_054350790.1 → XP_054206765.1  mitochondrial brown fat uncoupling protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P25874.3 GenPept UniProtKB/Swiss-Prot:P25874

Gene LinkOut

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