• Gene id: 84808

Gene Summary

• Gene Symbol: PERM1   Gene   UCSC   Ensembl
• Aliases: C1orf170
• Gene name: PPARGC1 and ESRR induced regulator, muscle 1
• Alternate names: PGC-1 and ERR-induced regulator in muscle protein 1, PGC-1 and ERR-induced regulator in muscle 1, PPARGC1 and ESRR-induced regulator in muscle 1, pGC-1 and ERR-induced regulator in muscle protein 1, peroxisome proliferator-activated receptor gamma coactivator,
• Gene location: 1p36.33 (982092: 975197)     Exons: 5     NC_000001.11
• OMIM: 603692

Protein Summary

• Protein general information: Q5SV97  
  • 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)
  • Length: 790  
  • Mass: 81351
  • Tissue specificity: Muscle-specific expression is increased by endurance exercise. {ECO
• Sequence:

  MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCE
  EEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPP
  GEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQ
  EELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAV
  STPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVST
  PASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVP
  RADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARP
  SAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEA
  AAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLG
  PAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDP
  HTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS

• Structural information:
  • STRING: ENSP00000414022
• Other Databases: GeneCards:  PERM1  Malacards:  PERM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0014850	response to muscle activity	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0014850	response to muscle activity	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq