• Gene id: 133522

Gene Summary

• Gene Symbol: PPARGC1B   Gene   UCSC   Ensembl
• Aliases: ERRL1, PERC, PGC-1(beta), PGC1B
• Gene name: PPARG coactivator 1 beta
• Alternate names: peroxisome proliferator-activated receptor gamma coactivator 1-beta, PGC-1-related estrogen receptor alpha coactivator, PPAR-gamma coactivator 1-beta, PPARGC-1-beta, PPARgamma coactivator 1 beta, peroxisome proliferator-activated receptor gamma, coactivator 1 ,
• Gene location: 5q32 (149730301: 149857860)     Exons: 16     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxida
• OMIM: 609759

Protein Summary

• Protein general information: Q86YN6  
  • Name: Peroxisome proliferator activated receptor gamma coactivator 1 beta (PGC 1 beta) (PPAR gamma coactivator 1 beta) (PPARGC 1 beta) (PGC 1 related estrogen receptor alpha coactivator)
  • Length: 1023  
  • Mass: 113222
  • Tissue specificity: Ubiquitous with higher expression in heart, brain and skeletal muscle. {ECO
• Sequence:

  MAGNDCGALLDEELSSFFLNYLADTQGGGSGEEQLYADFPELDLSQLDASDFDSATCFGELQWCPENSETEPNQY
  SPDDSELFQIDSENEALLAELTKTLDDIPEDDVGLAAFPALDGGDALSCTSASPAPSSAPPSPAPEKPSAPAPEV
  DELSLLQKLLLATSYPTSSSDTQKEGTAWRQAGLRSKSQRPCVKADSTQDKKAPMMQSQSRSCTELHKHLTSAQC
  CLQDRGLQPPCLQSPRLPAKEDKEPGEDCPSPQPAPASPRDSLALGRADPGAPVSQEDMQAMVQLIRYMHTYCLP
  QRKLPPQTPEPLPKACSNPSQQVRSRPWSRHHSKASWAEFSILRELLAQDVLCDVSKPYRLATPVYASLTPRSRP
  RPPKDSQASPGRPSSVEEVRIAASPKSTGPRPSLRPLRLEVKREVRRPARLQQQEEEDEEEEEEEEEEEKEEEEE
  WGRKRPGRGLPWTKLGRKLESSVCPVRRSRRLNPELGPWLTFADEPLVPSEPQGALPSLCLAPKAYDVERELGSP
  TDEDSGQDQQLLRGPQIPALESPCESGCGDMDEDPSCPQLPPRDSPRCLMLALSQSDPTFGKKSFEQTLTVELCG
  TAGLTPPTTPPYKPTEEDPFKPDIKHSLGKEIALSLPSPEGLSLKATPGAAHKLPKKHPERSELLSHLRHATAQP
  ASQAGQKRPFSCSFGDHDYCQVLRPEGVLQRKVLRSWEPSGVHLEDWPQQGAPWAEAQAPGREEDRSCDAGAPPK
  DSTLLRDHEIRASLTKHFGLLETALEEEDLASCKSPEYDTVFEDSSSSSGESSFLPEEEEEEGEEEEEDDEEEDS
  GVSPTCSDHCPYQSPPSKANRQLCSRSRSSSGSSPCHSWSPATRRNFRCESRGPCSDRTPSIRHARKRREKAIGE
  GRVVYIQNLSSDMSSRELKRRFEVFGEIEECEVLTRNRRGEKYGFITYRCSEHAALSLTKGAALRKRNEPSFQLS
  YGGLRHFCWPRYTDYDSNSEEALPASGKSKYEAMDFDSLLKEAQQSLH

• Structural information:
  • Protein Domains: (902..97-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR034605  IPR034621  IPR034177  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12356
  • PDB: 3SP6 6D0Y
  • PDBsum: 3SP6 6D0Y
  • STRING: ENSP00000312649
• Other Databases: GeneCards:  PPARGC1B  Malacards:  PPARGC1B

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0008134	transcription factor binding	IEA	molecular function
GO:0030331	estrogen receptor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0006390	mitochondrial transcription	IEA	biological process
GO:0007015	actin filament organization	IEA	biological process
GO:0010694	positive regulation of alkaline phosphatase activity	IEA	biological process
GO:0034614	cellular response to reactive oxygen species	IEA	biological process
GO:0045672	positive regulation of osteoclast differentiation	IEA	biological process
GO:0045780	positive regulation of bone resorption	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0060346	bone trabecula formation	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0042327	positive regulation of phosphorylation	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0030520	intracellular estrogen receptor signaling pathway	IDA	biological process
GO:0030374	nuclear receptor transcription coactivator activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0030331	estrogen receptor binding	IDA	molecular function
GO:0003712	transcription coregulator activity	IDA	molecular function
GO:0016592	mediator complex	IDA	cellular component
GO:0003723	RNA binding	NAS	molecular function
GO:0050682	AF-2 domain binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04931	Insulin resistance

Diseases

Associated diseases	References
Genetic obesity	KEGG:H02106
Genetic obesity	KEGG:H02106
obesity	PMID:15863669
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq