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P55916

- UCP3_HUMAN

UniProt

P55916 - UCP3_HUMAN

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Protein
Mitochondrial uncoupling protein 3
Gene
UCP3, SLC25A9
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation. As a result, energy is dissipated in the form of heat. May play a role in the modulation of tissue respiratory control. Participates in thermogenesis and energy balance.

GO - Molecular functioni

  1. oxidative phosphorylation uncoupler activity Source: Ensembl
  2. protein binding Source: IntAct
  3. transporter activity Source: ProtInc

GO - Biological processi

  1. aging Source: Ensembl
  2. cellular metabolic process Source: Reactome
  3. cellular response to hormone stimulus Source: Ensembl
  4. fatty acid metabolic process Source: Ensembl
  5. lipid metabolic process Source: ProtInc
  6. mitochondrial transport Source: InterPro
  7. proton transport Source: Reactome
  8. respiratory electron transport chain Source: Reactome
  9. respiratory gaseous exchange Source: ProtInc
  10. response to activity Source: Ensembl
  11. response to cold Source: Ensembl
  12. response to glucocorticoid Source: Ensembl
  13. response to hypoxia Source: Ensembl
  14. response to insulin Source: Ensembl
  15. response to nutrient Source: Ensembl
  16. response to superoxide Source: Ensembl
  17. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_6196. The proton buffering model.
REACT_6258. The fatty acid cycling model.

Protein family/group databases

TCDBi2.A.29.3.5. the mitochondrial carrier (mc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial uncoupling protein 3
Short name:
UCP 3
Alternative name(s):
Solute carrier family 25 member 9
Gene namesi
Name:UCP3
Synonyms:SLC25A9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:12519. UCP3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei11 – 3222Helical; Name=1; Reviewed prediction
Add
BLAST
Transmembranei77 – 9923Helical; Name=2; Reviewed prediction
Add
BLAST
Transmembranei120 – 13617Helical; Name=3; Reviewed prediction
Add
BLAST
Transmembranei184 – 20017Helical; Name=4; Reviewed prediction
Add
BLAST
Transmembranei218 – 23720Helical; Name=5; Reviewed prediction
Add
BLAST
Transmembranei272 – 29423Helical; Name=6; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Reactome
  3. mitochondrion Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
Note: The gene represented in this entry may be involved in disease pathogenesis.2 Publications

Keywords - Diseasei

Diabetes mellitus, Disease mutation, Obesity

Organism-specific databases

MIMi601665. phenotype.
PharmGKBiPA37166.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 312312Mitochondrial uncoupling protein 3
PRO_0000090672Add
BLAST

Proteomic databases

PaxDbiP55916.
PRIDEiP55916.

Expressioni

Tissue specificityi

Only in skeletal muscle and heart. Is more expressed in glycolytic than in oxidative skeletal muscles.1 Publication

Gene expression databases

ArrayExpressiP55916.
BgeeiP55916.
CleanExiHS_UCP3.
GenevestigatoriP55916.

Organism-specific databases

HPAiCAB010771.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NSP034952EBI-9116865,EBI-2548993From a different organism.

Protein-protein interaction databases

BioGridi113199. 3 interactions.
IntActiP55916. 1 interaction.
STRINGi9606.ENSP00000323740.

Structurei

3D structure databases

ProteinModelPortaliP55916.
SMRiP55916. Positions 13-311.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati11 – 10595Solcar 1
Add
BLAST
Repeati114 – 20693Solcar 2
Add
BLAST
Repeati215 – 30086Solcar 3
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni279 – 30123Purine nucleotide binding By similarity
Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG300436.
HOGENOMiHOG000165140.
HOVERGENiHBG009528.
InParanoidiP55916.
KOiK15103.
OMAiRFQASIH.
OrthoDBiEOG793B7Z.
PhylomeDBiP55916.
TreeFamiTF323211.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002030. Mit_uncoupling.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00784. MTUNCOUPLING.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform UCP3L (identifier: P55916-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MVGLKPSDVP PTMAVKFLGA GTAACFADLV TFPLDTAKVR LQIQGENQAV    50
QTARLVQYRG VLGTILTMVR TEGPCSPYNG LVAGLQRQMS FASIRIGLYD 100
SVKQVYTPKG ADNSSLTTRI LAGCTTGAMA VTCAQPTDVV KVRFQASIHL 150
GPSRSDRKYS GTMDAYRTIA REEGVRGLWK GTLPNIMRNA IVNCAEVVTY 200
DILKEKLLDY HLLTDNFPCH FVSAFGAGFC ATVVASPVDV VKTRYMNSPP 250
GQYFSPLDCM IKMVAQEGPT AFYKGFTPSF LRLGSWNVVM FVTYEQLKRA 300
LMKVQMLRES PF 312
Length:312
Mass (Da):34,216
Last modified:November 1, 1997 - v1
Checksum:iD0E04A8DB352B17C
GO
Isoform UCP3S (identifier: P55916-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     276-312: Missing.

Show »
Length:275
Mass (Da):29,783
Checksum:i4E0FDF29E06A8AD9
GO
Isoform 3 (identifier: P55916-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     114-216: Missing.

Show »
Length:209
Mass (Da):22,874
Checksum:i4DC46DECA9A50E17
GO

Sequence cautioni

The sequence AAC51785.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91V → M.
Corresponds to variant rs8179180 [ dbSNP | Ensembl ].
VAR_050136
Natural varianti70 – 701R → W in severe obesity with type 2 diabetes. 1 Publication
Corresponds to variant rs17848368 [ dbSNP | Ensembl ].
VAR_004407
Natural varianti102 – 1021V → I in obesity. 1 Publication
Corresponds to variant rs2229707 [ dbSNP | Ensembl ].
VAR_004408

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei114 – 216103Missing in isoform 3.
VSP_003270Add
BLAST
Alternative sequencei276 – 31237Missing in isoform UCP3S.
VSP_003271Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti193 – 1942NC → KS in AAC18822. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U84763 mRNA. Translation: AAC51367.1.
U82818 mRNA. Translation: AAC51356.1.
AF001787 mRNA. Translation: AAC51369.1.
AF011449 mRNA. Translation: AAC51767.1.
AF012202
, AF012197, AF012198, AF012199, AF012200, AF012201 Genomic DNA. Translation: AAC51785.1. Different initiation.
AF026958, AF026956, AF026957 Genomic DNA. Translation: AAC18822.1.
AF050113 Genomic DNA. Translation: AAG02284.1.
BC008392 mRNA. Translation: AAH08392.1.
CCDSiCCDS44677.1. [P55916-2]
CCDS8229.1. [P55916-1]
PIRiJC5522.
RefSeqiNP_003347.1. NM_003356.3. [P55916-1]
NP_073714.1. NM_022803.2. [P55916-2]
UniGeneiHs.101337.
Hs.621879.

Genome annotation databases

EnsembliENST00000314032; ENSP00000323740; ENSG00000175564. [P55916-1]
ENST00000426995; ENSP00000392143; ENSG00000175564. [P55916-2]
GeneIDi7352.
KEGGihsa:7352.
UCSCiuc001our.3. human. [P55916-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U84763 mRNA. Translation: AAC51367.1 .
U82818 mRNA. Translation: AAC51356.1 .
AF001787 mRNA. Translation: AAC51369.1 .
AF011449 mRNA. Translation: AAC51767.1 .
AF012202
, AF012197 , AF012198 , AF012199 , AF012200 , AF012201 Genomic DNA. Translation: AAC51785.1 . Different initiation.
AF026958 , AF026956 , AF026957 Genomic DNA. Translation: AAC18822.1 .
AF050113 Genomic DNA. Translation: AAG02284.1 .
BC008392 mRNA. Translation: AAH08392.1 .
CCDSi CCDS44677.1. [P55916-2 ]
CCDS8229.1. [P55916-1 ]
PIRi JC5522.
RefSeqi NP_003347.1. NM_003356.3. [P55916-1 ]
NP_073714.1. NM_022803.2. [P55916-2 ]
UniGenei Hs.101337.
Hs.621879.

3D structure databases

ProteinModelPortali P55916.
SMRi P55916. Positions 13-311.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113199. 3 interactions.
IntActi P55916. 1 interaction.
STRINGi 9606.ENSP00000323740.

Protein family/group databases

TCDBi 2.A.29.3.5. the mitochondrial carrier (mc) family.

Proteomic databases

PaxDbi P55916.
PRIDEi P55916.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314032 ; ENSP00000323740 ; ENSG00000175564 . [P55916-1 ]
ENST00000426995 ; ENSP00000392143 ; ENSG00000175564 . [P55916-2 ]
GeneIDi 7352.
KEGGi hsa:7352.
UCSCi uc001our.3. human. [P55916-1 ]

Organism-specific databases

CTDi 7352.
GeneCardsi GC11M073711.
HGNCi HGNC:12519. UCP3.
HPAi CAB010771.
MIMi 601665. phenotype.
602044. gene.
neXtProti NX_P55916.
PharmGKBi PA37166.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG300436.
HOGENOMi HOG000165140.
HOVERGENi HBG009528.
InParanoidi P55916.
KOi K15103.
OMAi RFQASIH.
OrthoDBi EOG793B7Z.
PhylomeDBi P55916.
TreeFami TF323211.

Enzyme and pathway databases

Reactomei REACT_6196. The proton buffering model.
REACT_6258. The fatty acid cycling model.

Miscellaneous databases

GeneWikii UCP3.
GenomeRNAii 7352.
NextBioi 28782.
PROi P55916.
SOURCEi Search...

Gene expression databases

ArrayExpressi P55916.
Bgeei P55916.
CleanExi HS_UCP3.
Genevestigatori P55916.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
InterProi IPR002030. Mit_uncoupling.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
PRINTSi PR00784. MTUNCOUPLING.
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Uncoupling protein-3: a new member of the mitochondrial carrier family with tissue-specific expression."
    Boss O., Samec S., Paoloni-Giacobino A., Dulloo A., Seydoux J., Rossier C., Muzzin P., Giacobino J.-P.
    FEBS Lett. 408:39-42(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Skeletal muscle.
  2. "The human uncoupling protein-3 gene. Genomic structure, chromosomal localization, and genetic basis for short and long form transcripts."
    Solanes G., Vidal-Puig A., Grujic D., Flier J.S., Lowell B.B.
    J. Biol. Chem. 272:25433-25436(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS UCP3L AND UCP3S).
  3. "UCP3: an uncoupling protein homologue expressed preferentially and abundantly in skeletal muscle and brown adipose tissue."
    Vidal-Puig A., Solanes G., Grujic D., Flier J.S., Lowell B.B.
    Biochem. Biophys. Res. Commun. 235:79-82(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM UCP3L), TISSUE SPECIFICITY.
  4. "Uncoupling protein-3 is a mediator of thermogenesis regulated by thyroid hormone, beta3-adrenergic agonists, and leptin."
    Gong D.-W., He Y., Karas M., Reitman M.
    J. Biol. Chem. 272:24129-24132(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  5. "Organisation of the coding exons and mutational screening of the uncoupling protein 3 gene in subjects with juvenile-onset obesity."
    Urhammer S.A., Dalgaard L.T., Soerensen T.I.A., Tybjaerg-Hansen A., Echwald S.M., Andersen T., Clausen J.O., Pedersen O.
    Diabetologia 41:241-244(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "The uncoupling protein-3 gene is transcribed from tissue-specific promoters in humans but not in rodents."
    Esterbauer H., Oberkofler H., Krempler F., Strosberg A.D., Patsch W.
    J. Biol. Chem. 275:36394-36399(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Skeletal muscle.
  8. "Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes."
    Argyropoulos G., Brown A.M., Willi S.M., Zhu J., He Y., Reitman M., Gevao S.M., Spruill I., Garvey W.T.
    J. Clin. Invest. 102:1345-1351(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OBESITY ILE-102.
  9. "A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes."
    Brown A.M., Willi S.M., Argyropoulos G., Garvey W.T.
    Hum. Mutat. 13:506-506(1999)
    Cited for: VARIANT OBESITY TRP-70.

Entry informationi

Entry nameiUCP3_HUMAN
AccessioniPrimary (citable) accession number: P55916
Secondary accession number(s): O60475, Q96HL3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: September 3, 2014
This is version 132 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi