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 protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory fac... See more...

Aliases for PPARGC1A Gene

Aliases for PPARGC1A Gene

  • PPARG Coactivator 1 Alpha 2 3 5
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Alpha 3 4
  • PPARgamma Coactivator 1alpha 2 3
  • PPARGC-1-Alpha 3 4
  • PGC-1-Alpha 3 4
  • PPARGC1 3 4
  • PGC1A 3 4
  • LEM6 3 4
  • PGC1 3 4
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha Transcript Variant B4-3ext 3
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha Transcript Variant B4-8a 3
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha Transcript Variant B5-NT 3
  • Peroxisome Proliferative Activated Receptor, Gamma, Coactivator 1, Alpha 2
  • Peroxisome Proliferator-Activated Receptor Gamma, Coactivator 1 Alpha 2
  • Peroxisome Proliferative Activated Receptor, Gamma, Coactivator 1 2
  • PPAR Gamma Coactivator Variant Form 3
  • PPAR-Gamma Coactivator 1-Alpha 4
  • Ligand Effect Modulator-6 3
  • Ligand Effect Modulator 6 4
  • L-PGC-1alpha 3
  • PGC-1(Alpha) 3
  • PGC-1alpha 3
  • PGC-1v 3

External Ids for PPARGC1A Gene

Previous HGNC Symbols for PPARGC1A Gene

  • PPARGC1

Previous GeneCards Identifiers for PPARGC1A Gene

  • GC04M023544
  • GC04M023469
  • GC04M023793
  • GC04M023138

Summaries for PPARGC1A Gene

Entrez Gene Summary for PPARGC1A Gene

  • 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 protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPARGC1A Gene

PPARGC1A (PPARG Coactivator 1 Alpha) is a Protein Coding gene. Diseases associated with PPARGC1A include Amyotrophic Lateral Sclerosis 1 and Acute Porphyria. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is PPARGC1B.

UniProtKB/Swiss-Prot Summary for PPARGC1A Gene

  • Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner. Also involved in the integration of the circadian rhythms and energy metabolism. Required for oscillatory expression of clock genes, such as ARNTL/BMAL1 and NR1D1, through the coactivation of RORA and RORC, and metabolic genes, such as PDK4 and PEPCK.

Gene Wiki entry for PPARGC1A Gene

Additional gene information for PPARGC1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPARGC1A Gene

Genomics for PPARGC1A Gene

GeneHancer (GH) Regulatory Elements for PPARGC1A Gene

Promoters and enhancers for PPARGC1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J023886 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 507.1 +584.2 584156 5.2 EP300 ZSCAN5C POLR2G USF1 JUND REST ZBTB25 TGIF2 ATF2 ZBTB26 PPARGC1A lnc-PPARGC1A-4 ENSG00000249453
GH04J023880 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 520 +590.8 590796 2.8 FOXK2 NCOR1 KDM6A TCF7 CTCF ZBTB25 SKI TEAD1 ZBTB26 ZKSCAN8 PPARGC1A lnc-PPARGC1A-4 ENSG00000249453
GH04J024469 Promoter/Enhancer 1.9 EPDnew FANTOM5 ENCODE CraniofacialAtlas 500.7 +1.1 1132 4.1 HNRNPK ZNF217 EP300 CTCF NRF1 MYC USF1 FOS ZNF639 ZIC2 PPARGC1A MIR573 LINC02473 piR-50437-497 lnc-DHX15-1
GH04J023945 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl ENCODE 511 +527.2 527170 2.8 USF1 FOS CLOCK CTBP1 SPI1 FOSL1 FOSL2 PRDM10 USF2 POLR2A PPARGC1A piR-38051-196 piR-50437-496
GH04J024137 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500 +334.4 334433 1.7 NCOR1 KDM6A TCF7 FOXA1 ZNF341 FOXA2 RAD51 USF1 ZBTB33 NR2F2 PPARGC1A ENSG00000249453 lnc-PPARGC1A-5 NONHSAG037626.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPARGC1A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPARGC1A

Top Transcription factor binding sites by QIAGEN in the PPARGC1A gene promoter:
  • aMEF-2
  • CREB
  • deltaCREB
  • MEF-2A

Genomic Locations for PPARGC1A Gene

Genomic Locations for PPARGC1A Gene
chr4:23,755,041-24,472,771
(GRCh38/hg38)
Size:
717,731 bases
Orientation:
Minus strand
chr4:23,756,664-23,905,712
(GRCh37/hg19)
Size:
149,049 bases
Orientation:
Minus strand

Genomic View for PPARGC1A Gene

Genes around PPARGC1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPARGC1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPARGC1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPARGC1A Gene

Proteins for PPARGC1A Gene

  • Protein details for PPARGC1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBK2-PRGC1_HUMAN
    Recommended name:
    Peroxisome proliferator-activated receptor gamma coactivator 1-alpha
    Protein Accession:
    Q9UBK2
    Secondary Accessions:
    • B7Z406
    • G8DM16
    • I3RTT5
    • I3RTT6
    • I3RTT7
    • I3RTT8
    • I3RTT9
    • Q3LIG1
    • Q4W5M7
    • Q9UN32

    Protein attributes for PPARGC1A Gene

    Size:
    798 amino acids
    Molecular mass:
    91027 Da
    Quaternary structure:
    • Homooligomer. Interacts with MYBBP1A; inhibits MYBBP1A transcriptional activation (By similarity). Interacts with PRDM16, LPIN1 and PML (By similarity). Interacts (via LXXLL motif) with RORA and RORC (via AF-2 motif); activates RORA and RORC transcriptional activation (By similarity). Interacts with LRPPRC. Interacts with RNF34 (via RING-type zinc finger).
    Miscellaneous:
    • [Isoform B5]: Produced by alternative promoter usage.
    • [Isoform B4]: Produced by alternative promoter usage.
    • [Isoform B4-8a]: Produced by alternative promoter usage.
    • [Isoform B5-NT]: Produced by alternative promoter usage.
    • [Isoform B4-3ext]: Produced by alternative promoter usage.
    • [Isoform 9]: Produced by alternative promoter usage. May be involved in gluconeogenesis, liver-specific.

    Three dimensional structures from OCA and Proteopedia for PPARGC1A Gene

    Alternative splice isoforms for PPARGC1A Gene

neXtProt entry for PPARGC1A Gene

Post-translational modifications for PPARGC1A Gene

  • Phosphorylation by AMPK in skeletal muscle increases activation of its own promoter. Phosphorylated by CLK2.
  • Heavily acetylated by GCN5 and biologically inactive under conditions of high nutrients. Deacetylated by SIRT1 in low nutrients/high NAD conditions.
  • Ubiquitinated. Ubiquitination by RNF34 induces proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPARGC1A Gene

Domains & Families for PPARGC1A Gene

Gene Families for PPARGC1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for PPARGC1A Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPARGC1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58997, highly similar to Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (B7Z406_HUMAN)
  • Ligand effect modulator 6 (PRGC1_HUMAN)
genes like me logo Genes that share domains with PPARGC1A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PPARGC1A Gene

Function for PPARGC1A Gene

Molecular function for PPARGC1A Gene

UniProtKB/Swiss-Prot Function:
Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner. Also involved in the integration of the circadian rhythms and energy metabolism. Required for oscillatory expression of clock genes, such as ARNTL/BMAL1 and NR1D1, through the coactivation of RORA and RORC, and metabolic genes, such as PDK4 and PEPCK.
UniProtKB/Swiss-Prot Induction:
Transcription is repressed by ZNF746 which binds to 'insulin response sequences' its promoter.

Phenotypes From GWAS Catalog for PPARGC1A Gene

Gene Ontology (GO) - Molecular Function for PPARGC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 10713165
GO:0003682 chromatin binding IEA --
GO:0003712 transcription coregulator activity IEA,TAS 14636573
GO:0003713 transcription coactivator activity IDA 19651776
genes like me logo Genes that share ontologies with PPARGC1A: view
genes like me logo Genes that share phenotypes with PPARGC1A: view

Human Phenotype Ontology for PPARGC1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPARGC1A Gene

MGI Knock Outs for PPARGC1A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPARGC1A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PPARGC1A Gene

Localization for PPARGC1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPARGC1A Gene

[Isoform 1]: Nucleus. Nucleus, PML body.
[Isoform B4]: Nucleus.
[Isoform B4-8a]: Cytoplasm. Nucleus.
[Isoform B5]: Nucleus. Nucleus, PML body.
[Isoform 9]: Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPARGC1A gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 4
peroxisome 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPARGC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IBA,TAS 12588810
GO:0005654 nucleoplasm TAS --
GO:0005719 nuclear euchromatin IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PPARGC1A: view

Pathways & Interactions for PPARGC1A Gene

genes like me logo Genes that share pathways with PPARGC1A: view

Pathways by source for PPARGC1A Gene

1 GeneGo (Thomson Reuters) pathway for PPARGC1A Gene
  • Development Beta-adrenergic receptors signaling via cAMP
2 Qiagen pathways for PPARGC1A Gene
  • Estrogen Pathway
  • PGC1Alpha Pathway
1 Cell Signaling Technology pathway for PPARGC1A Gene

SIGNOR curated interactions for PPARGC1A Gene

Gene Ontology (GO) - Biological Process for PPARGC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IEA --
GO:0000422 autophagy of mitochondrion IEA --
GO:0001659 temperature homeostasis TAS 1258810
GO:0001666 response to hypoxia IEA --
GO:0001678 cellular glucose homeostasis NAS 11854298
genes like me logo Genes that share ontologies with PPARGC1A: view

Drugs & Compounds for PPARGC1A Gene

(27) Drugs for PPARGC1A Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Balaglitazone Investigational Pharma PPAR-γ partial agonist 0
GW9662 Pharma Antagonist PPARγ antagonist 0
Rosiglitazone maleate Pharma PPARγ agonist,high-affinity and selective,potent insulin sensitizer 0
ZLN005 Pharma 0

(14) Additional Compounds for PPARGC1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for PPARGC1A Gene

Compound Action Cas Number
Balaglitazone PPAR-γ partial agonist 199113-98-9
GW9662 PPARγ antagonist 22978-25-2
Rosiglitazone maleate PPARγ agonist,high-affinity and selective,potent insulin sensitizer 155141-29-0
ZLN005 49671-76-3
genes like me logo Genes that share compounds with PPARGC1A: view

Drug Products

Transcripts for PPARGC1A Gene

mRNA/cDNA for PPARGC1A Gene

8 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPARGC1A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPARGC1A Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b ^ 12 ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - - - - - - - -
SP6: - -
SP7: - - - - - - - - -
SP8:
SP9:
SP10:

ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PPARGC1A Gene

GeneLoc Exon Structure for
PPARGC1A

Expression for PPARGC1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPARGC1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPARGC1A Gene

This gene is overexpressed in Heart - Atrial Appendage (x6.0), Muscle - Skeletal (x5.1), Heart - Left Ventricle (x4.8), and Liver (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPARGC1A Gene



Protein tissue co-expression partners for PPARGC1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPARGC1A

SOURCE GeneReport for Unigene cluster for PPARGC1A Gene:

Hs.527078

mRNA Expression by UniProt/SwissProt for PPARGC1A Gene:

Q9UBK2-PRGC1_HUMAN
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 fasting induced a 2-fold increase in levels in the skeletal muscle in obese subjects.

Evidence on tissue expression from TISSUES for PPARGC1A Gene

  • Liver(4.7)
  • Muscle(4.7)
  • Nervous system(4.5)
  • Heart(3)
  • Kidney(2.5)
  • Thyroid gland(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PPARGC1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PPARGC1A: view

No data available for Protein differential expression in normal tissues for PPARGC1A Gene

Orthologs for PPARGC1A Gene

This gene was present in the common ancestor of animals.

Orthologs for PPARGC1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPARGC1A 31 30
  • 99.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPARGC1A 31 30
  • 95.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPARGC1A 31 30
  • 93.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppargc1a 30
  • 92.5 (n)
mouse
(Mus musculus)
Mammalia Ppargc1a 17 31 30
  • 92.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PPARGC1A 31
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPARGC1A 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPARGC1A 31 30
  • 86.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPARGC1A 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppargc1a 30
  • 77.18 (n)
zebrafish
(Danio rerio)
Actinopterygii ppargc1a 31
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Spargel 31
  • 13 (a)
OneToMany
Species where no ortholog for PPARGC1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPARGC1A Gene

ENSEMBL:
Gene Tree for PPARGC1A (if available)
TreeFam:
Gene Tree for PPARGC1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPARGC1A: view image

Paralogs for PPARGC1A Gene

Paralogs for PPARGC1A Gene

genes like me logo Genes that share paralogs with PPARGC1A: view

Variants for PPARGC1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPARGC1A Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
708680 Likely Benign: not provided 23,824,514(-) G/A INTRON_VARIANT
713303 Benign: not provided 23,831,596(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
713696 Benign: not provided 23,801,889(-) G/A INTRON_VARIANT
718433 Benign: not provided 23,814,055(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
724253 Likely Benign: not provided 23,828,545(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PPARGC1A Gene

Structural Variations from Database of Genomic Variants (DGV) for PPARGC1A Gene

Variant ID Type Subtype PubMed ID
esv3375298 CNV insertion 20981092
esv3599932 CNV loss 21293372
nsv1002512 CNV gain 25217958
nsv1132585 CNV duplication 24896259
nsv290453 CNV insertion 16902084
nsv593825 CNV gain 21841781

Variation tolerance for PPARGC1A Gene

Residual Variation Intolerance Score: 10.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.37; 92.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPARGC1A Gene

Human Gene Mutation Database (HGMD)
PPARGC1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPARGC1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPARGC1A Gene

Disorders for PPARGC1A Gene

MalaCards: The human disease database

(18) MalaCards diseases for PPARGC1A Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • als1
acute porphyria
  • hepatic porphyria
lipomatosis
  • benign symmetrical lipomatosis
huntington disease
  • hd
diabetes mellitus, noninsulin-dependent
  • niddm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPARGC1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPARGC1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPARGC1A Gene

Publications for PPARGC1A Gene

  1. Human peroxisome proliferator activated receptor gamma coactivator 1 (PPARGC1) gene: cDNA sequence, genomic organization, chromosomal localization, and tissue expression. (PMID: 10585775) Esterbauer H … Patsch W (Genomics 1999) 2 3 4 23 54
  2. Relationship of five type 2 diabetes candidate gene polymorphisms to the age at diagnosis of diabetes in the Slovakian population. (PMID: 20437825) Kozarova M … Tkac I (Bratislavske lekarske listy 2010) 3 23 41 54
  3. Association of the PPARGC1A gene polymorphism with diabetic nephropathy in an Asian Indian population (CURES-41). (PMID: 19900151) Gayathri SB … Mohan V (Metabolic syndrome and related disorders 2010) 3 23 41 54
  4. Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han Chinese population. (PMID: 19828207) Zhu S … Liu Y (Diabetes research and clinical practice 2009) 3 23 41 54
  5. PGC-1alpha Gly482Ser polymorphism is associated with the plasma adiponectin level in type 2 diabetic men. (PMID: 18614852) Okauchi Y … Yamagata K (Endocrine journal 2008) 3 23 41 54

Products for PPARGC1A Gene

Sources for PPARGC1A Gene