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

Gene ID: 84808, updated on 23-Nov-2021

Summary

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
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
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

See PERM1 in Genome Data Viewer
Location:
1p36.33
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (975198..982093, complement)
105.20201022 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 kelch like family member 17 Neighboring gene pleckstrin homology domain containing N1 Neighboring gene hes family bHLH transcription factor 4 Neighboring gene ribosomal protein L39 pseudogene 12

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ92510, MGC13275

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription, DNA-templated 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

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_001291366.2NP_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
    Related
    ENSP00000414022.3, ENST00000433179.3
    Conserved Domains (1) summary
    PHA03247
    Location:47518
    PHA03247; large tegument protein UL36; Provisional
  2. NM_001291367.2NP_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
    Related
    ENSP00000343864.2, ENST00000341290.6
    Conserved Domains (1) summary
    PHA03247
    Location:115617
    PHA03247; large tegument protein UL36; Provisional
  3. NM_001369897.1NP_001356826.1  PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AK123855, AL645608, BC006300, F22110, KF150175
    Conserved Domains (1) summary
    PHA03247
    Location:47518
    PHA03247; large tegument protein UL36; Provisional
  4. NM_001369898.1NP_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:47518
    PHA03247; large tegument protein UL36; Provisional
  5. NM_001394713.1NP_001381642.1  PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL645608
    Conserved Domains (1) summary
    PHA03247
    Location:47518
    PHA03247; large tegument protein UL36; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    975198..982093 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.
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