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

    Gene ID: 84808, updated on 2-Nov-2024

    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, Nov 2024]
    Expression
    Biased expression in heart (RPKM 9.8), skin (RPKM 3.0) and 2 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (975198..982093, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (403907..411933, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11 Neighboring gene kelch like family member 17 Neighboring gene pleckstrin homology domain containing N1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6 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 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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    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
    		  
    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
    		  
    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
    		  
    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
    		  
    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_2024_08

    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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