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PERM1 PPARGC1 and ESRR induced regulator, muscle 1 [ Homo sapiens (human) ]

Gene ID: 84808, updated on 7-Sep-2023

Summary

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Official Symbol
PERM1provided by HGNC
Official Full Name
PPARGC1 and ESRR induced regulator, muscle 1provided by HGNC
Primary source
HGNC:HGNC:28208
See related
Ensembl:ENSG00000187642 MIM:615921; AllianceGenome:HGNC:28208
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C1orf170
Summary
Involved in response to muscle activity. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart (RPKM 9.8), skin (RPKM 3.0) and 2 other tissues See more
Orthologs
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Genomic context

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See PERM1 in Genome Data Viewer
Location:
1p36.33
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (975198..982093, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (403907..411933, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (910578..917473, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sterile alpha motif domain containing 11 Neighboring gene NOC2 like nucleolar associated transcriptional repressor Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:893904-894761 Neighboring gene kelch like family member 17 Neighboring gene pleckstrin homology domain containing N1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:941508-942493 Neighboring gene hes family bHLH transcription factor 4 Neighboring gene ribosomal protein L39 pseudogene 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Perm1 regulates CaMKII activation and shapes skeletal muscle responses to endurance exercise training. Cho Y, et al. Mol Metab, 2019 May. PMID 30862473, Free PMC Article
  2. Perm1 regulates cardiac energetics as a downstream target of the histone methyltransferase Smyd1. Oka SI, et al. PLoS One, 2020. PMID 32574189, Free PMC Article
  3. A draft map of the human proteome. Kim MS, et al. Nature, 2014 May 29. PMID 24870542, Free PMC Article
  4. Peroxisome proliferator-activated receptor γ coactivator 1 (PGC-1)- and estrogen-related receptor (ERR)-induced regulator in muscle 1 (Perm1) is a tissue-specific regulator of oxidative capacity in skeletal muscle cells. Cho Y, et al. J Biol Chem, 2013 Aug 30. PMID 23836911, Free PMC Article
  5. Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. Lanfranchi G, et al. Genome Res, 1996 Jan. PMID 8681137

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Perm1 regulates cardiac energetics as a downstream target of the histone methyltransferase Smyd1.
    Title: Perm1 regulates cardiac energetics as a downstream target of the histone methyltransferase Smyd1.
  2. These findings identify Perm1 as a muscle-specific regulator of exercise-induced signaling and Perm1 levels as tuners of the skeletal muscle response to exercise.
    Title: Perm1 regulates CaMKII activation and shapes skeletal muscle responses to endurance exercise training.
  3. Proteomics evidence was identified for the PERM1 gene
    Title: A draft map of the human proteome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ92510, MGC13275

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to muscle activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in response to muscle activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
PGC-1 and ERR-induced regulator in muscle protein 1
Names
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 1 and estrogen-related receptor-induced regulator in muscle 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001291366.2 → NP_001278295.1  PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001278295.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Variants 1 and 3 encode the same isoform.
    Source sequence(s)
    AK123855, AL645608, BC006300, F22110, KF150175
    Consensus CDS
    CCDS76083.1
    UniProtKB/Swiss-Prot
    Q5SV97, Q6ZVZ7, Q9BRF2, S5G239
    Related
    ENSP00000511592.1, ENST00000694917.1
    Conserved Domains (1) summary
    PHA03247
    Location:47 → 518
    PHA03247; large tegument protein UL36; Provisional

  2. NM_001291367.2 → NP_001278296.2  PGC-1 and ERR-induced regulator in muscle protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an additional exon but lacks a downstream segment in the 5' region, compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK123855, AL645608, BC006300, F22110, KF150175
    Consensus CDS
    CCDS90836.1
    Related
    ENSP00000343864.2, ENST00000341290.6
    Conserved Domains (1) summary
    PHA03247
    Location:115 → 617
    PHA03247; large tegument protein UL36; Provisional

  3. NM_001369897.1 → NP_001356826.1  PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AK123855, AL645608, BC006300, F22110, KF150175
    Consensus CDS
    CCDS76083.1
    UniProtKB/Swiss-Prot
    Q5SV97, Q6ZVZ7, Q9BRF2, S5G239
    Conserved Domains (1) summary
    PHA03247
    Location:47 → 518
    PHA03247; large tegument protein UL36; Provisional

  4. NM_001369898.1 → NP_001356827.1  PGC-1 and ERR-induced regulator in muscle protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AK123855, AL645608, BC006300, F22110, KF150175
    Conserved Domains (1) summary
    PHA03247
    Location:47 → 518
    PHA03247; large tegument protein UL36; Provisional

  5. NM_001394713.1 → NP_001381642.1  PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL645608
    Consensus CDS
    CCDS76083.1
    UniProtKB/Swiss-Prot
    Q5SV97, Q6ZVZ7, Q9BRF2, S5G239
    Related
    ENSP00000414022.3, ENST00000433179.4
    Conserved Domains (1) summary
    PHA03247
    Location:47 → 518
    PHA03247; large tegument protein UL36; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    975198..982093 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    403907..411933 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032722.2: Suppressed sequence

    Description
    NM_032722.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

  2. NR_027693.1: Suppressed sequence

    Description
    NR_027693.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5SV97.4 GenPept UniProtKB/Swiss-Prot:Q5SV97

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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