• Gene id: 10891

Gene Summary

• Gene Symbol: PPARGC1A   Gene   UCSC   Ensembl
• Aliases: LEM6, PGC-1(alpha), PGC-1alpha, PGC-1v, PGC1, PGC1A, PPARGC1
• Gene name: PPARG coactivator 1 alpha
• Alternate names: peroxisome proliferator-activated receptor gamma coactivator 1-alpha, L-PGC-1alpha, PGC-1-alpha, PPAR gamma coactivator variant form, PPARGC-1-alpha, PPARgamma coactivator 1alpha, ligand effect modulator-6, peroxisome proliferator-activated receptor gamma coacti,
• Gene location: 4p15.2 (1229721: 1003518)     Exons: 36     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protei
• OMIM: 604517

Protein Summary

• Protein general information: Q9UBK2  
  • Name: Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC 1 alpha) (PPAR gamma coactivator 1 alpha) (PPARGC 1 alpha) (Ligand effect modulator 6)
  • Length: 798  
  • Mass: 91027
  • Tissue specificity: Heart, skeletal muscle, liver and kidney. Expressed at lower levels in brain and pancreas and at very low levels in the intestine and white adipose tissue. In skeletal muscle, levels were lower in obese than in lean subjects and fastin
• Sequence:

  MAWDMCNQDSESVWSDIECAALVGEDQPLCPDLPELDLSELDVNDLDTDSFLGGLKWCSDQSEIISNQYNNEPSN
  IFEKIDEENEANLLAVLTETLDSLPVDEDGLPSFDALTDGDVTTDNEASPSSMPDGTPPPQEAEEPSLLKKLLLA
  PANTQLSYNECSGLSTQNHANHNHRIRTNPAIVKTENSWSNKAKSICQQQKPQRRPCSELLKYLTTNDDPPHTKP
  TENRNSSRDKCTSKKKSHTQSQSQHLQAKPTTLSLPLTPESPNDPKGSPFENKTIERTLSVELSGTAGLTPPTTP
  PHKANQDNPFRASPKLKSSCKTVVPPPSKKPRYSESSGTQGNNSTKKGPEQSELYAQLSKSSVLTGGHEERKTKR
  PSLRLFGDHDYCQSINSKTEILINISQELQDSRQLENKDVSSDWQGQICSSTDSDQCYLRETLEASKQVSPCSTR
  KQLQDQEIRAELNKHFGHPSQAVFDDEADKTGELRDSDFSNEQFSKLPMFINSGLAMDGLFDDSEDESDKLSYPW
  DGTQSYSLFNVSPSCSSFNSPCRDSVSPPKSLFSQRPQRMRSRSRSFSRHRSCSRSPYSRSRSRSPGSRSSSRSC
  YYYESSHYRHRTHRNSPLYVRSRSRSPYSRRPRYDSYEEYQHERLKREEYRREYEKRESERAKQRERQRQKAIEE
  RRVIYVGKIRPDTTRTELRDRFEVFGEIEECTVNLRDDGDSYGFITYRYTCDAFAALENGYTLRRSNETDFELYF
  CGRKQFFKSNYADLDSNSDDFDPASTKSKYDSLDFDSLLKEAQRSLRR

• Structural information:
  • Protein Domains: (677..75-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR034605  IPR034625  IPR034833  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12623
  • PDB: 1XB7 3B1M 3CS8 3D24 3U9Q 3V9T 3V9V 4QJR 4QK4 5Q0I 5TWO 5UNJ 5Z5S 5Z6S 6AD9 6FZF 6FZP 6IZM 6IZN 6K0T 6MS7 6NWK 6NWL
  • PDBsum: 1XB7 3B1M 3CS8 3D24 3U9Q 3V9T 3V9V 4QJR 4QK4 5Q0I 5TWO 5UNJ 5Z5S 5Z6S 6AD9 6FZF 6FZP 6IZM 6IZN 6K0T 6MS7 6NWK 6NWL
  • DIP: 38449
  • STRING: ENSP00000264867
• Other Databases: GeneCards:  PPARGC1A  Malacards:  PPARGC1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0010822	positive regulation of mitochondrion organization	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030374	nuclear receptor transcription coactivator activity	IBA	molecular function
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003712	transcription coregulator activity	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:1901215	negative regulation of neuron death	IGI	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0016922	nuclear receptor binding	IPI	molecular function
GO:0007005	mitochondrion organization	IEA	biological process
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0008134	transcription factor binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007623	circadian rhythm	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000422	autophagy of mitochondrion	IEA	biological process
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005719	nuclear euchromatin	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006012	galactose metabolic process	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008209	androgen metabolic process	IEA	biological process
GO:0009409	response to cold	IEA	biological process
GO:0014878	response to electrical stimulus involved in regulation of muscle adaptation	IEA	biological process
GO:0019395	fatty acid oxidation	IEA	biological process
GO:0030331	estrogen receptor binding	IEA	molecular function
GO:0030900	forebrain development	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0035865	cellular response to potassium ion	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043014	alpha-tubulin binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043201	response to leucine	IEA	biological process
GO:0045820	negative regulation of glycolytic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IEA	biological process
GO:0051552	flavone metabolic process	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0071250	cellular response to nitrite	IEA	biological process
GO:0071313	cellular response to caffeine	IEA	biological process
GO:0071332	cellular response to fructose stimulus	IEA	biological process
GO:0071354	cellular response to interleukin-6	IEA	biological process
GO:0071871	response to epinephrine	IEA	biological process
GO:1901558	response to metformin	IEA	biological process
GO:1904635	positive regulation of glomerular visceral epithelial cell apoptotic process	IEA	biological process
GO:1904639	cellular response to resveratrol	IEA	biological process
GO:1904640	response to methionine	IEA	biological process
GO:1990843	subsarcolemmal mitochondrion	IEA	cellular component
GO:2000184	positive regulation of progesterone biosynthetic process	IEA	biological process
GO:2000310	regulation of NMDA receptor activity	IEA	biological process
GO:0002021	response to dietary excess	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008134	transcription factor binding	IEA	molecular function
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0097009	energy homeostasis	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:1901857	positive regulation of cellular respiration	IEA	biological process
GO:1901860	positive regulation of mitochondrial DNA metabolic process	IEA	biological process
GO:1901863	positive regulation of muscle tissue development	IEA	biological process
GO:0000302	response to reactive oxygen species	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0002931	response to ischemia	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0006094	gluconeogenesis	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0009750	response to fructose	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0014732	skeletal muscle atrophy	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0014912	negative regulation of smooth muscle cell migration	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0022626	cytosolic ribosome	IEA	cellular component
GO:0031325	positive regulation of cellular metabolic process	IEA	biological process
GO:0042594	response to starvation	IEA	biological process
GO:0042975	peroxisome proliferator activated receptor binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0046321	positive regulation of fatty acid oxidation	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071372	cellular response to follicle-stimulating hormone stimulus	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0071873	response to norepinephrine	IEA	biological process
GO:0090258	negative regulation of mitochondrial fission	IEA	biological process
GO:0097066	response to thyroid hormone	IEA	biological process
GO:0097067	cellular response to thyroid hormone stimulus	IEA	biological process
GO:0097440	apical dendrite	IEA	cellular component
GO:1904637	cellular response to ionomycin	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:1990844	interfibrillar mitochondrion	IEA	cellular component
GO:1990845	adaptive thermogenesis	IEA	biological process
GO:2000272	negative regulation of signaling receptor activity	IEA	biological process
GO:0010822	positive regulation of mitochondrion organization	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:2001171	positive regulation of ATP biosynthetic process	IEA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0030374	nuclear receptor transcription coactivator activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0014850	response to muscle activity	ISS	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0097009	energy homeostasis	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0031490	chromatin DNA binding	ISS	molecular function
GO:0022904	respiratory electron transport chain	ISS	biological process
GO:0019395	fatty acid oxidation	NAS	biological process
GO:0008380	RNA splicing	TAS	biological process
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0003723	RNA binding	TAS	molecular function
GO:0003677	DNA binding	ISS	molecular function
GO:0001678	cellular glucose homeostasis	NAS	biological process
GO:0001659	temperature homeostasis	TAS	biological process
GO:0003712	transcription coregulator activity	TAS	molecular function
GO:2001171	positive regulation of ATP biosynthetic process	ISS	biological process
GO:0050873	brown fat cell differentiation	TAS	biological process
GO:0046321	positive regulation of fatty acid oxidation	TAS	biological process
GO:0045722	positive regulation of gluconeogenesis	TAS	biological process
GO:0045333	cellular respiration	TAS	biological process
GO:0034599	cellular response to oxidative stress	ISS	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0042594	response to starvation	NAS	biological process
GO:0010822	positive regulation of mitochondrion organization	ISS	biological process
GO:0007005	mitochondrion organization	NAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006094	gluconeogenesis	NAS	biological process
GO:0035066	positive regulation of histone acetylation	TAS	biological process
GO:0008134	transcription factor binding	TAS	molecular function
GO:0007586	digestion	TAS	biological process
GO:0006397	mRNA processing	TAS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003677	DNA binding	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04714	Thermogenesis
hsa04371	Apelin signaling pathway
hsa04910	Insulin signaling pathway
hsa04152	AMPK signaling pathway
hsa04922	Glucagon signaling pathway
hsa04931	Insulin resistance
hsa04211	Longevity regulating pathway
hsa04920	Adipocytokine signaling pathway

Diseases

Associated diseases	References
Non-alcoholic fatty liver disease	PMID:23269818
Alzheimer's disease	PMID:19273754
Huntington's disease	PMID:21757867
Huntington's disease	PMID:17018277
Huntington's disease	PMID:24383721
Huntington's disease	PMID:21211002
Huntington's disease	PMID:22589246
Huntington's disease	PMID:21595933
Huntington's disease	PMID:19133136
cardiovascular system disease	PMID:18162502
Parkinson's disease	PMID:21376232
Parkinson's disease	PMID:21595954
Malignant fibroxanthoma	PMID:23166610
Melanoma	PMID:23416000
Kidney cancer	PMID:23150719
Chronic obstructive pulmonary disease	PMID:20732852
Amyotrophic lateral sclerosis	PMID:23147503
Amyotrophic lateral sclerosis	PMID:22102466
macular degeneration	PMID:23335958
Myocardial infarction	PMID:22087236
type 2 diabetes mellitus	PMID:23210442
type 2 diabetes mellitus	PMID:18162502
type 2 diabetes mellitus	PMID:18270681
type 2 diabetes mellitus	PMID:23251491
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)