PERM1 (PPARGC1 and ESRR induced regulator, muscle 1)

Gene

• Entrez ID: 84808
• Gene name: PPARGC1 and ESRR induced regulator, muscle 1
• Gene symbol: PERM1
• Synonyms (NCBI Gene): C1orf170
• Chromosome: 1
• Chromosome location: 1p36.33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT742139	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT742140	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT742141	hsa-miR-6072	HITS-CLIP	23824327
MIRT742142	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT742143	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT742144	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT742145	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT742146	hsa-miR-301a-5p	HITS-CLIP	23824327
MIRT742147	hsa-miR-301b-5p	HITS-CLIP	23824327
MIRT742148	hsa-miR-3921	HITS-CLIP	23824327
MIRT742149	hsa-miR-4653-5p	HITS-CLIP	23824327
MIRT742150	hsa-miR-345-5p	HITS-CLIP	23824327
MIRT742151	hsa-miR-7974	HITS-CLIP	23824327
MIRT742152	hsa-miR-4687-3p	HITS-CLIP	23824327
MIRT742153	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT742154	hsa-miR-1260a	HITS-CLIP	23824327
MIRT742155	hsa-miR-1260b	HITS-CLIP	23824327
MIRT742156	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT742157	hsa-miR-647	HITS-CLIP	23824327
MIRT742158	hsa-miR-6842-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0014850	Process	Response to muscle activity	IBA
GO:0014850	Process	Response to muscle activity	IDA	23836911
GO:0014850	Process	Response to muscle activity	IEA

Other IDs

• MIM: 615921
• HGNC: 28208
• e!Ensembl: ENSG00000187642

Protein

• UniProt ID: Q5SV97
• Protein name: PGC-1 and ERR-induced regulator in muscle protein 1 (PPARGC1 and ESRR-induced regulator in muscle 1) (Peroxisome proliferator-activated receptor gamma coactivator 1 and estrogen-related receptor-induced regulator in muscle 1)
• Protein function: Regulates the expression of selective PPARGC1A/B and ESRRA/B/G target genes with roles in glucose and lipid metabolism, energy transfer, contractile function, muscle mitochondrial biogenesis and oxidative capacity. Required for the efficient ind
• Tissue specificity: TISSUE SPECIFICITY: Muscle-specific expression is increased by endurance exercise. {ECO:0000269|PubMed:23836911}.
• Sequence:

  MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLP
  TGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGAS
  PPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSP
  SRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGP
  RSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAV
  STPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAV
  SIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPV
  AKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPS
  AGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGA
  WEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEA
  AAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVY
  EHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELR
  GPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQG
  RRSHSPSPSS

• Sequence length: 790

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutrophil inclusion bodies	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal tubular epithelial cell apoptosis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Neoplasms	Associate	28912426	★☆☆☆☆ Found in Text Mining only