P25874 (UCP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mitochondrial brown fat uncoupling protein 1
Short name=UCP 1

Alternative name(s):
Solute carrier family 25 member 7
Thermogenin

Gene names

Name:	UCP1
Synonyms:	SLC25A7, UCP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	307 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat.
Subunit structure	Acts as a dimer forming a proton channel.
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein.
Tissue specificity	Brown adipose tissue. Ref.6
Polymorphism	The Thr-64 polymorphism is associated with an increased waist-to-hip ratio. The Leu-229 polymorphism is associated with susceptibility to type II diabetes mellitus.
Sequence similarities	Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats.

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
Disease	Diabetes mellitus Obesity
Domain	Repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	brown fat cell differentiation Inferred from sequence or structural similarity. Source: HGNC cellular lipid metabolic process Traceable author statement. Source: Reactome respiratory electron transport chain Traceable author statement. Source: Reactome
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Traceable author statement. Source: Reactome
Molecular function	anion transmembrane transporter activity Traceable author statement. Source: Reactome binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 307	307	Mitochondrial brown fat uncoupling protein 1		PRO_0000090657
Regions
	Transmembrane	11 – 32	22	Helical; Name=1; Potential
	Transmembrane	74 – 96	23	Helical; Name=2; Potential
	Transmembrane	117 – 133	17	Helical; Name=3; Potential
	Transmembrane	179 – 195	17	Helical; Name=4; Potential
	Transmembrane	213 – 232	20	Helical; Name=5; Potential
	Transmembrane	267 – 289	23	Helical; Name=6; Potential
	Repeat	11 – 102	92	Solcar 1
	Repeat	111 – 201	91	Solcar 2
	Repeat	210 – 295	86	Solcar 3
	Region	274 – 296	23	Purine nucleotide binding By similarity
Natural variations
	Natural variant	64	1	A → T. Ref.8 Corresponds to variant rs45539933 [ dbSNP | Ensembl ].		VAR_022840
	Natural variant	229	1	M → L. Ref.7 Corresponds to variant rs2270565 [ dbSNP | Ensembl ].		VAR_022841
Experimental info
	Sequence conflict	21	1	G → P in CAA36214. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P25874 [UniParc]. Last modified July 19, 2005. Version 3. Checksum: BCC99AB27171FC67	FASTA	307	33,005
	10 20 30 40 50 60 MGGLTASDVH PTLGVQLFSA GIAACLADVI TFPLDTAKVR LQVQGECPTS SVIRYKGVLG 70 80 90 100 110 120 TITAVVKTEG RMKLYSGLPA GLQRQISSAS LRIGLYDTVQ EFLTAGKETA PSLGSKILAG 130 140 150 160 170 180 LTTGGVAVFI GQPTEVVKVR LQAQSHLHGI KPRYTGTYNA YRIIATTEGL TGLWKGTTPN 190 200 210 220 230 240 LMRSVIINCT ELVTYDLMKE AFVKNNILAD DVPCHLVSAL IAGFCATAMS SPVDVVKTRF 250 260 270 280 290 300 INSPPGQYKS VPNCAMKVFT NEGPTAFFKG LVPSFLRLGS WNVIMFVCFE QLKRELSKSR QTMDCAT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4." Cassard A.M., Bouillaud F., Mattei M.-G., Hentz E., Raimbault S., Thomas M., Ricquier D. J. Cell. Biochem. 43:255-264(1990) [PubMed: 2380264] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	Bouillaud F. Submitted (JUL-1995) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[3]	"Sequence of the cDNA coding for the human uncoupling protein UCP." Bouillaud F., Ricquier D., Raimbault S. Submitted (JUL-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brown adipose tissue.
[4]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"Detection of brown adipose tissue uncoupling protein mRNA in adult patients by a human genomic probe." Bouillaud F., Villarroya F., Hentz E., Raimbault S., Cassard A.M., Ricquier D. Clin. Sci. 75:21-27(1988) [PubMed: 3165741] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 113-196, TISSUE SPECIFICITY. Tissue: Brown adipose tissue.
[7]	"A polymorphism in the 5' untranslated region and a Met229-->Leu variant in exon 5 of the human UCP1 gene are associated with susceptibility to type II diabetes mellitus." Mori H., Okazawa H., Iwamoto K., Maeda E., Hashiramoto M., Kasuga M. Diabetologia 44:373-376(2001) [PubMed: 11317671] [Abstract] Cited for: VARIANT LEU-229.
[8]	"Uncoupling protein 1 and 3 polymorphisms are associated with waist-to-hip ratio." Herrmann S.M., Wang J.G., Staessen J.A., Kertmen E., Schmidt-Petersen K., Zidek W., Paul M., Brand E. J. Mol. Med. 81:327-332(2003) [PubMed: 12756473] [Abstract] Cited for: VARIANT THR-64.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X51952 , X51953, X51954, X51955 Genomic DNA. Translation: CAA36214.1. U28480 mRNA. Translation: AAA85271.1. AC108019 Genomic DNA. Translation: AAY41026.1. BC069556 mRNA. Translation: AAH69556.1. BC098168 mRNA. Translation: AAH98168.1. BC098258 mRNA. Translation: AAH98258.1.
IPI	IPI00299306.
PIR	G01858.
RefSeq	NP_068605.1. NM_021833.4.
UniGene	Hs.249211.
3D structure databases
ProteinModelPortal	P25874.
SMR	P25874. Positions 14-305.
ModBase	Search...
Protein-protein interaction databases
STRING	P25874.
Protein family/group databases
TCDB	2.A.29.3.2. mitochondrial carrier (MC) family.
PTM databases
PhosphoSite	P25874.
Polymorphism databases
DMDM	71153184.
Proteomic databases
PRIDE	P25874.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262999; ENSP00000262999; ENSG00000109424.
GeneID	7350.
KEGG	hsa:7350.
UCSC	uc003iil.1. human.
Organism-specific databases
CTD	7350.
GeneCards	GC04M141480.
H-InvDB	HIX0031476.
HGNC	HGNC:12517. UCP1.
HPA	CAB037199.
MIM	113730. gene.
neXtProt	NX_P25874.
PharmGKB	PA37164.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12781.
HOGENOM	HBG735918.
HOVERGEN	HBG009528.
InParanoid	P25874.
OMA	QSHLHGL.
OrthoDB	EOG4V6ZH7.
PhylomeDB	P25874.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	P25874.
Bgee	P25874.
CleanEx	HS_UCP1.
Genevestigator	P25874.
GermOnline	ENSG00000109424. Homo sapiens.
Family and domain databases
InterPro	IPR002030. Mit_uncoupling. IPR018108. Mitochondrial_sb/sol_carrier. IPR023395. Mt_carrier_dom. [Graphical view]
Gene3D	G3DSA:1.50.40.10. G3DSA:1.50.40.10. 1 hit.
KO	K08769.
Pfam	PF00153. Mito_carr. 3 hits. [Graphical view]
PRINTS	PR00784. MTUNCOUPLING.
SUPFAM	SSF103506. Mitoch_carrier. 1 hit.
PROSITE	PS50920. SOLCAR. 3 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	28774.
SOURCE	Search...

Entry information

Entry name

UCP1_HUMAN

Accession

Primary (citable) accession number: P25874
Secondary accession number(s): Q13218, Q4KMZ3, Q68G66

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 1992
Last sequence update:	July 19, 2005
Last modified:	January 25, 2012
This is version 107 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.