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P55916

- UCP3_HUMAN

UniProt

P55916 - UCP3_HUMAN

Protein

Mitochondrial uncoupling protein 3

Gene

UCP3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 Nov 1997)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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.2 Publications
    Note: The gene represented in this entry may be involved in disease pathogenesis.

    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 3PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    Family & Domainsi

    Domains and Repeats

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

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni279 – 30123Purine nucleotide bindingBy similarityAdd
    BLAST

    Sequence similaritiesi

    Contains 3 Solcar repeats.PROSITE-ProRule annotation

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti193 – 1942NC → KS in AAC18822. (PubMed:9498661)Curated

    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. 1 PublicationVSP_003270Add
    BLAST
    Alternative sequencei276 – 31237Missing in isoform UCP3S. CuratedVSP_003271Add
    BLAST

    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

    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: October 1, 2014
    This is version 133 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