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Perm1 Gene Detail
Summary
  • Symbol
    Perm1
  • Name
    PPARGC1 and ESRR induced regulator, muscle 1
  • Synonyms
    2310042D19Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921433
    NCBI Gene: 74183
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:156300325-156305764 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 88.62 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    358 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921433
 protein coding gene Chr4:156287724-156305766 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029250
 protein coding gene Chr4:160588958-160594453 (+)
A/J MGP_AJ_G0029215
 protein coding gene Chr4:153821857-153827408 (+)
AKR/J MGP_AKRJ_G0029163
 protein coding gene Chr4:158014183-158019678 (+)
BALB/cJ MGP_BALBcJ_G0029231
 protein coding gene Chr4:154298650-154304201 (+)
C3H/HeJ MGP_C3HHeJ_G0028952
 protein coding gene Chr4:158587327-158592878 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029680
 protein coding gene Chr4:166291506-166296945 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026923
 protein coding gene Chr4:146098416-146103919 (+)
CAST/EiJ MGP_CASTEiJ_G0028364
 protein coding gene Chr4:156008972-156016523 (+)
CBA/J MGP_CBAJ_G0028914
 protein coding gene Chr4:171341842-171347305 (+)
DBA/2J MGP_DBA2J_G0029063
 protein coding gene Chr4:153840661-153846210 (+)
FVB/NJ MGP_FVBNJ_G0029026
 protein coding gene Chr4:153092756-153098152 (+)
LP/J MGP_LPJ_G0029153
 protein coding gene Chr4:160543472-160549089 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029053
 protein coding gene Chr4:174111819-174117314 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029712
 protein coding gene Chr4:158645966-158651517 (+)
PWK/PhJ MGP_PWKPhJ_G0028084
 protein coding gene Chr4:149983172-149987124 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027918
 protein coding gene Chr4:152896030-152901551 (+)
WSB/EiJ MGP_WSBEiJ_G0028444
 protein coding gene Chr4:158828448-158833869 (+)



Homology
more
  • Human Ortholog
    PERM1, PPARGC1 and ESRR induced regulator, muscle 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PERM1, PPARGC1 and ESRR induced regulator, muscle 1
  • Synonyms
    C1orf170
  • Links
    NCBI Gene ID: 84808
    neXtProt AC: NX_Q5SV97
    UniProt: Q5SV97

  • Chr Location
    1p36.33; chr1:975198-982117 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    2 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit reduced ejection fraction, fractional shortening, and myocardial energy reserve.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    9
  • GO References
    3
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    756
  • Tissues
    10
  • cDNA Data
    19
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000078486 Ensembl Gene Model | MGI Sequence Detail 5440 C57BL/6J ±  kb
    transcript ENSMUST00000105572 Ensembl | MGI Sequence Detail 3901 Not Applicable  
    polypeptide ENSMUSP00000101197 Ensembl | MGI Sequence Detail 807 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000036939 PGC-1 and ERR-induced regulator in muscle protein 1
      (term hierarchy)
    • InterPro Domains
      IPR043442 PGC-1 and ERR-induced regulator in muscle protein 1
    • GlyGen
      Q149B8 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 19
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 25
      Developmental Gene Expression 1
      Gene Ontology 3
      Phenotypes 2
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:334191 Oka SI, et al., PERM1 regulates energy metabolism in the heart via ERRalpha/PGC-1alpha axis. Front Cardiovasc Med. 2022;9:1033457
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory