UCP3 uncoupling protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UCP3provided by HGNC
Official Full Name: uncoupling protein 3provided by HGNC
Primary source: HGNC:HGNC:12519
See related: Ensembl:ENSG00000175564 MIM:602044; AllianceGenome:HGNC:12519
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: SLC25A9
Summary: Mitochondrial uncoupling proteins (UCP) are members of the larger 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. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (74000277..74009085, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (73929606..73938415, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (73711322..73720130, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human mitochondrial uncoupling protein 3 functions as a metabolite transporter.
Title: Human mitochondrial uncoupling protein 3 functions as a metabolite transporter.
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.
The influence of six polymorphisms of uncoupling protein 3 (UCP3) gene and childhood obesity: a case-control study.
Title: The influence of six polymorphisms of uncoupling protein 3 (UCP3) gene and childhood obesity: a case-control study.
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.
Association of UCP3 Polymorphisms with Nonalcoholic Steatohepatitis and Metabolic Syndrome in Nonalcoholic Fatty Liver Disease Brazilian Patients.
Title: Association of UCP3 Polymorphisms with Nonalcoholic Steatohepatitis and Metabolic Syndrome in Nonalcoholic Fatty Liver Disease Brazilian Patients.
Effect of -55C/T Polymorphism of Uncoupling Protein 3 Gene on Risk for New-Onset Diabetes in Chinese Peritoneal Dialysis Patients: A Prospective Cohort Study.
Title: Effect of -55C/T Polymorphism of Uncoupling Protein 3 Gene on Risk for New-Onset Diabetes in Chinese Peritoneal Dialysis Patients: A Prospective Cohort Study.
Ethnicity Differences in the Association of UCP1-3826A/G, UCP2-866G/A and Ala55Val, and UCP3-55C/T Polymorphisms with Type 2 Diabetes Mellitus Susceptibility: An Updated Meta-Analysis.
Title: Ethnicity Differences in the Association of UCP1-3826A/G, UCP2-866G/A and Ala55Val, and UCP3-55C/T Polymorphisms with Type 2 Diabetes Mellitus Susceptibility: An Updated Meta-Analysis.
Uncoupling protein gene UCP1-3826A/G, UCP2 Ins/Del and UCP3-55C/T polymorphisms in obese Turkish children.
Title: Uncoupling protein gene UCP1-3826A/G, UCP2 Ins/Del and UCP3-55C/T polymorphisms in obese Turkish children.
Association of UCP1, UCP2 and UCP3 gene polymorphisms with cardiovascular disease risk factors in European adolescents: the HELENA study.
Title: Association of UCP1, UCP2 and UCP3 gene polymorphisms with cardiovascular disease risk factors in European adolescents: the HELENA study.
Studied physiology of weight loss through gene expression of uncoupling protein 3(UCP3), perilipin 1 (PLIN1), and peroxisome proliferator activated receptor gamma (PPARG2) in obese female patients after low calorie diet intervention. With hypocaloric diet, found UCP3 reduced in obese patients and UCP3, PLIN1 and PPARG2 correlate positively with carbohydrate oxidation and negatively with lipid oxidation.
Title: Influence of expression of UCP3, PLIN1 and PPARG2 on the oxidation of substrates after hypocaloric dietary intervention.

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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

Associated conditions

Description	Tests
Inherited obesity MedGen: C4054476 OMIM: 601665 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of uncoupling protein 3 (UCP3, mitochondrial, proton carrier) in Vif-expression T cells	PubMed

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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

D11S2233E (e-PCR)
- UniSTS:19718

UCP3 (e-PCR)
- UniSTS:504137

RH65723 (e-PCR)
- UniSTS:78444

D11S2239E (e-PCR)
- UniSTS:48800

D11S2240E (e-PCR)
- UniSTS:57038

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables calcium ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
NOT enables oxidative phosphorylation uncoupler activity	IDA Inferred from Direct Assay more info	PubMed
enables oxidative phosphorylation uncoupler activity	IDA Inferred from Direct Assay more info	PubMed
enables oxidative phosphorylation uncoupler activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in adaptive thermogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid hydroperoxide transport	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in respiratory gaseous exchange by respiratory system	TAS Traceable Author Statement more info	PubMed
involved_in response to activity	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 fenofibrate	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to superoxide	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: putative mitochondrial transporter UCP3

Names: mitochondrial uncoupling protein 3; solute carrier family 25 member 9; uncoupling protein 3 (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_011515.1 RefSeqGene

Range

5153..13961

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003356.4 → NP_003347.1 putative mitochondrial transporter UCP3 isoform UCP3L

See identical proteins and their annotated locations for NP_003347.1

Status: REVIEWED

Description

Transcript Variant: This variant (long) encodes the full length isoform.

Source sequence(s)

AP003717, AW295096, BC008392, BU618868, DA876282, U84763

Consensus CDS

CCDS8229.1

UniProtKB/Swiss-Prot

O60475, P55916, Q96HL3

UniProtKB/TrEMBL

A0A0S2Z4G5, A8K3L5, A8K774

Related

ENSP00000323740.4, ENST00000314032.9

Conserved Domains (2) summary

PTZ00169
Location:14 → 302

PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional

pfam00153
Location:112 → 210

Mito_carr; Mitochondrial carrier protein
NM_022803.3 → NP_073714.1 putative mitochondrial transporter UCP3 isoform UCP3S

See identical proteins and their annotated locations for NP_073714.1

Status: REVIEWED

Description

Transcript Variant: This variant (short) encodes a protein which is different at the C-terminus from isoform UCP3L. It has an incomplete sixth transmembrane domain and an incomplete purine nucleotide binding domain.

Source sequence(s)

AP003717, DA876282, U82818

Consensus CDS

CCDS44677.1

UniProtKB/TrEMBL

A8K3L5, A8K774

Related

ENSP00000392143.2, ENST00000426995.2

Conserved Domains (1) summary

pfam00153
Location:112 → 210

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

74000277..74009085 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427519.1 → XP_047283475.1 putative mitochondrial transporter UCP3 isoform X1

UniProtKB/Swiss-Prot

O60475, P55916, Q96HL3

UniProtKB/TrEMBL

A0A0S2Z4G5, A8K3L5, A8K774