Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

20 Show/Hide all (20)

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

12 Show/Hide all (12)

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

MIM	HGNC	e!Ensembl
615921	28208	ENSG00000187642

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	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
Family and domains
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
Interactions	View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	36653681, 40050429	★★★★★ ★★☆☆☆ 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

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	23836911	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30862473	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30862473	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with PERM1 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for PERM1.

Diseases Linked via Similar Genes Diseases curated for genes most similar to PERM1 (see Related Genes above), that are NOT already directly curated for PERM1 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to PERM1.

PERM1 (PPARGC1 and ESRR induced regulator, muscle 1)

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