• Gene id: 7350

Gene Summary

• Gene Symbol: UCP1   Gene   UCSC   Ensembl
• Aliases: SLC25A7, UCP
• Gene name: uncoupling protein 1
• Alternate names: mitochondrial brown fat uncoupling protein 1, solute carrier family 25 member 7, thermogenin, uncoupling protein 1 (mitochondrial, proton carrier),
• Gene location: 4q31.1 (140568960: 140555769)     Exons: 11     NC_000004.12
• Gene summary(Entrez): 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.
• OMIM: 113730

Protein Summary

• Protein general information: P25874  
  • Name: Mitochondrial brown fat uncoupling protein 1 (UCP 1) (Solute carrier family 25 member 7) (Thermogenin)
  • Length: 307  
  • Mass: 33005
  • Tissue specificity: Brown adipose tissue. {ECO
• Sequence:

  MGGLTASDVHPTLGVQLFSAGIAACLADVITFPLDTAKVRLQVQGECPTSSVIRYKGVLGTITAVVKTEGRMKLY
  SGLPAGLQRQISSASLRIGLYDTVQEFLTAGKETAPSLGSKILAGLTTGGVAVFIGQPTEVVKVRLQAQSHLHGI
  KPRYTGTYNAYRIIATTEGLTGLWKGTTPNLMRSVIINCTELVTYDLMKEAFVKNNILADDVPCHLVSALIAGFC
  ATAMSSPVDVVKTRFINSPPGQYKSVPNCAMKVFTNEGPTAFFKGLVPSFLRLGSWNVIMFVCFEQLKRELSKSR
  QTMDCAT

• Structural information:
  • Interpro: IPR002030  IPR018108  IPR023395  IPR040011  
  • Prosite: PS50920
  • STRING: ENSP00000262999
• Other Databases: GeneCards:  UCP1  Malacards:  UCP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050873	brown fat cell differentiation	ISS	biological process
GO:0017077	oxidative phosphorylation uncoupler activity	IBA	molecular function
GO:1990542	mitochondrial transmembrane transport	IBA	biological process
GO:1990845	adaptive thermogenesis	IBA	biological process
GO:0009409	response to cold	IBA	biological process
GO:1902600	proton transmembrane transport	IDA	biological process
GO:0022857	transmembrane transporter activity	IDA	molecular function
GO:1901612	cardiolipin binding	ISS	molecular function
GO:0036041	long-chain fatty acid binding	ISS	molecular function
GO:0017077	oxidative phosphorylation uncoupler activity	ISS	molecular function
GO:1990845	adaptive thermogenesis	ISS	biological process
GO:1990542	mitochondrial transmembrane transport	ISS	biological process
GO:0071398	cellular response to fatty acid	ISS	biological process
GO:0034614	cellular response to reactive oxygen species	ISS	biological process
GO:0009266	response to temperature stimulus	ISS	biological process
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0032555	purine ribonucleotide binding	ISS	molecular function
GO:1903426	regulation of reactive oxygen species biosynthetic process	ISS	biological process
GO:0032870	cellular response to hormone stimulus	ISS	biological process
GO:0031667	response to nutrient levels	ISS	biological process
GO:0017077	oxidative phosphorylation uncoupler activity	IEA	molecular function
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:1990542	mitochondrial transmembrane transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006839	mitochondrial transport	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:1902600	proton transmembrane transport	TAS	biological process
GO:1902600	proton transmembrane transport	TAS	biological process
GO:1990845	adaptive thermogenesis	IEA	biological process
GO:1990542	mitochondrial transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0036041	long-chain fatty acid binding	IEA	molecular function
GO:0034614	cellular response to reactive oxygen species	IEA	biological process
GO:0017077	oxidative phosphorylation uncoupler activity	IEA	molecular function
GO:0009266	response to temperature stimulus	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0002024	diet induced thermogenesis	IEA	biological process
GO:1903426	regulation of reactive oxygen species biosynthetic process	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0070417	cellular response to cold	IEA	biological process
GO:0032870	cellular response to hormone stimulus	IEA	biological process
GO:0032555	purine ribonucleotide binding	IEA	molecular function
GO:0031667	response to nutrient levels	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005740	mitochondrial envelope	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04714	Thermogenesis
hsa04371	Apelin signaling pathway
hsa03320	PPAR signaling pathway

Diseases

Associated diseases	References
Genetic obesity	KEGG:H02106
Genetic obesity	KEGG:H02106
Alzheimer's disease	PMID:24498895
Hypertension	PMID:17635070
type 2 diabetes mellitus	PMID:11317671
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray