UCP1 uncoupling protein 1 [Homo sapiens (human)] - Gene

Summary

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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Structural basis of purine nucleotide inhibition of human uncoupling protein 1.
Title: Structural basis of purine nucleotide inhibition of human uncoupling protein 1.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UCP1 (e-PCR), detects polymorphism
- UniSTS:251665

D4S420 (e-PCR), detects polymorphism
- UniSTS:82238

SHGC4-1035 (e-PCR)
- UniSTS:85074

NoName (e-PCR)
- UniSTS:481374

SHGC-50226 (e-PCR)
- UniSTS:67442

SHGC-50806 (e-PCR)
- UniSTS:14725

D4S420 (e-PCR), detects polymorphism
- UniSTS:79263

SHGC-152690 (e-PCR)
- UniSTS:177588

GDB:386145 (e-PCR)
- UniSTS:157144

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 more info	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

NG_012139.1 RefSeqGene

Range

4845..14375

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

140559431..140568961 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060928.1 Alternate T2T-CHM13v2.0

Range

143879138..143888662 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q4KMT7
XM_054350790.1 → XP_054206765.1 mitochondrial brown fat uncoupling protein 1 isoform X2