Aliases for PERM1 Gene

Aliases for PERM1 Gene

  • PPARGC1 And ESRR Induced Regulator, Muscle 1 2 3 5
  • PGC-1 And ERR-Induced Regulator In Muscle Protein 1 3 3 4
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 And Estrogen-Related Receptor-Induced Regulator In Muscle 1 3 4
  • PPARGC1 And ESRR-Induced Regulator In Muscle 1 3 4
  • C1orf170 3 4
  • PGC-1- And ERR-Induced Regulator In Muscle 1 2
  • PGC-1 And ERR-Induced Regulator In Muscle 1 3
  • Chromosome 1 Open Reading Frame 170 2

External Ids for PERM1 Gene

Previous HGNC Symbols for PERM1 Gene

  • C1orf170

Previous GeneCards Identifiers for PERM1 Gene

  • GC01M000910

Summaries for PERM1 Gene

GeneCards Summary for PERM1 Gene

PERM1 (PPARGC1 And ESRR Induced Regulator, Muscle 1) is a Protein Coding gene. An important paralog of this gene is PRRT3.

UniProtKB/Swiss-Prot Summary for PERM1 Gene

  • 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 induction of MT-CO2, MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression of PDK4.

Additional gene information for PERM1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PERM1 Gene

Genomics for PERM1 Gene

GeneHancer (GH) Regulatory Elements for PERM1 Gene

Promoters and enhancers for PERM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J000975 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 764 +5.6 5616 1.8 CTCF RBPJ L3MBTL2 MNT GLIS2 CREB1 REST ZBTB8A PRDM10 BACH1 PERM1 lnc-NOC2L-7 LINC01786 ENSG00000272512 ENSG00000240731 CDK11A lnc-NOC2L-10 PLEKHN1
GH01J000979 Promoter 0.8 Ensembl 763 +0.4 416 1.8 TFE3 SP5 PHF21A GATAD2A RXRB ZNF316 SAP130 DRAP1 SMAD4 ARID4B PERM1 ENSG00000272512 ISG15 lnc-NOC2L-7
GH01J000983 Enhancer 0.3 FANTOM5 750.6 -1.0 -1005 0.1 NRF1 PERM1 lnc-PERM1-1
GH01J000984 Enhancer 0.3 Ensembl 761.5 -1.2 -1184 0.2 NRF1 PERM1 lnc-PERM1-1
GH01J000997 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -17.8 -17824 5.3 GTF3C2 ZNF785 SP1 CTCF SREBF1 ZBTB6 MLX RBPJ SMARCE1 POLR2A ENSG00000272512 ISG15 HES4 INTS11 ATAD3B WASH7P ENSG00000240731 CDK11A CCNL2 ENSG00000227775
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PERM1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PERM1 Gene

Genomic Locations for PERM1 Gene
chr1:975,199-982,117
(GRCh38/hg38)
Size:
6,919 bases
Orientation:
Minus strand
chr1:910,579-917,497
(GRCh37/hg19)
Size:
6,919 bases
Orientation:
Minus strand

Genomic View for PERM1 Gene

Genes around PERM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PERM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PERM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PERM1 Gene

Proteins for PERM1 Gene

  • Protein details for PERM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SV97-PERM1_HUMAN
    Recommended name:
    PGC-1 and ERR-induced regulator in muscle protein 1
    Protein Accession:
    Q5SV97
    Secondary Accessions:
    • Q6ZVZ7
    • Q9BRF2
    • S5G239

    Protein attributes for PERM1 Gene

    Size:
    790 amino acids
    Molecular mass:
    81351 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PERM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PERM1 Gene

Post-translational modifications for PERM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PERM1 Gene

No data available for DME Specific Peptides for PERM1 Gene

Domains & Families for PERM1 Gene

Gene Families for PERM1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PERM1 Gene

ProtoNet:
genes like me logo Genes that share domains with PERM1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PERM1 Gene

Function for PERM1 Gene

Molecular function for PERM1 Gene

UniProtKB/Swiss-Prot 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 induction of MT-CO2, MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression of PDK4.

Phenotypes From GWAS Catalog for PERM1 Gene

Phenotypes for PERM1 Gene

genes like me logo Genes that share phenotypes with PERM1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PERM1 Gene

Localization for PERM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PERM1 Gene

Cytoplasm. Nucleus. Note=Shows a nuclear localization in the presence of PPARGC1A. {ECO:0000250 UniProtKB:Q149B8}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PERM1 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PERM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with PERM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PERM1 Gene

Pathways & Interactions for PERM1 Gene

PathCards logo

SuperPathways for PERM1 Gene

No Data Available

Interacting Proteins for PERM1 Gene

Gene Ontology (GO) - Biological Process for PERM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated ISS,IEA --
GO:0014850 response to muscle activity IDA,IEA 23836911
genes like me logo Genes that share ontologies with PERM1: view

No data available for Pathways by source and SIGNOR curated interactions for PERM1 Gene

Drugs & Compounds for PERM1 Gene

No Compound Related Data Available

Transcripts for PERM1 Gene

mRNA/cDNA for PERM1 Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PERM1 Gene

No ASD Table

Relevant External Links for PERM1 Gene

GeneLoc Exon Structure for
PERM1
ECgene alternative splicing isoforms for
PERM1

Expression for PERM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PERM1 Gene

mRNA differential expression in normal tissues according to GTEx for PERM1 Gene

This gene is overexpressed in Muscle - Skeletal (x28.9), Heart - Left Ventricle (x15.9), and Heart - Atrial Appendage (x5.7).

Protein differential expression in normal tissues from HIPED for PERM1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PERM1 Gene



Protein tissue co-expression partners for PERM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PERM1 Gene:

PERM1

mRNA Expression by UniProt/SwissProt for PERM1 Gene:

Q5SV97-PERM1_HUMAN
Tissue specificity: Muscle-specific expression is increased by endurance exercise.
genes like me logo Genes that share expression patterns with PERM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PERM1 Gene

Orthologs for PERM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PERM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1orf170 33
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf170 33
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf170 33
  • 44 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1orf170 33
  • 39 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2310042D19Rik 33
  • 39 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1orf170 33
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1orf170 33
  • 22 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf170 33
  • 67 (a)
OneToOne
Species where no ortholog for PERM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PERM1 Gene

ENSEMBL:
Gene Tree for PERM1 (if available)
TreeFam:
Gene Tree for PERM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PERM1: view image

Paralogs for PERM1 Gene

Paralogs for PERM1 Gene

genes like me logo Genes that share paralogs with PERM1: view

Variants for PERM1 Gene

Sequence variations from dbSNP and Humsavar for PERM1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000018442 -- 982,715(-) G/A upstream_transcript_variant
rs1000120877 -- 984,068(-) G/A upstream_transcript_variant
rs1000608524 -- 979,181(-) C/T coding_sequence_variant, missense_variant
rs1001211743 -- 978,338(-) G/A intron_variant
rs1001523923 -- 978,641(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PERM1 Gene

Variant ID Type Subtype PubMed ID
dgv2n67 CNV gain 20364138
dgv5n100 CNV gain 25217958
dgv7n106 CNV deletion 24896259
esv1001028 CNV insertion 20482838
esv1165796 CNV deletion 17803354
esv2670613 CNV deletion 23128226
esv2762302 CNV gain 21179565
nsv1013524 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1073996 CNV deletion 25765185
nsv1160644 CNV deletion 26073780
nsv428334 CNV gain 18775914
nsv482937 CNV loss 15286789
nsv509035 CNV insertion 20534489
nsv517709 CNV gain+loss 19592680
nsv544895 CNV loss 21841781
nsv832980 CNV gain 17160897
nsv950451 CNV deletion 24416366

Variation tolerance for PERM1 Gene

Gene Damage Index Score: 2.63; 45.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PERM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PERM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PERM1 Gene

Disorders for PERM1 Gene

Additional Disease Information for PERM1

No disorders were found for PERM1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PERM1 Gene

Publications for PERM1 Gene

  1. 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. (PMID: 23836911) Cho Y … Kralli A (The Journal of biological chemistry 2013) 2 3 4 56
  2. Systematic identification of pathological lamin A interactors. (PMID: 24623722) Dittmer TA … Misteli T (Molecular biology of the cell 2014) 3 56
  3. A draft map of the human proteome. (PMID: 24870542) Kim MS … Pandey A (Nature 2014) 3 56
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 56

Products for PERM1 Gene

Sources for PERM1 Gene