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Afg3l1 Gene Detail
Summary
  • Symbol
    Afg3l1
  • Name
    AFG3-like AAA ATPase 1
  • Synonyms
    1700047G05Rik, 3110061K15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1928277
    NCBI Gene: 114896
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:124204642-124230655 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 72.10 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    890 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1928277
 protein coding gene Chr8:124204601-124230655 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034257
 protein coding gene Chr8:127082075-127110016 (+)
A/J MGP_AJ_G0034237
 protein coding gene Chr8:121832916-121880962 (+)
AKR/J MGP_AKRJ_G0034164
 protein coding gene Chr8:125355856-125383889 (+)
BALB/cJ MGP_BALBcJ_G0034230
 protein coding gene Chr8:122033321-122062065 (+)
C3H/HeJ MGP_C3HHeJ_G0033941
 protein coding gene Chr8:126056374-126084633 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034750
 protein coding gene Chr8:131368221-131396174 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031692
 protein coding gene Chr8:114636049-114664288 (+)
CAST/EiJ MGP_CASTEiJ_G0033269
 protein coding gene Chr8:126166724-126194963 (+)
CBA/J MGP_CBAJ_G0033914
 protein coding gene Chr8:136150447-136191299 (+)
DBA/2J MGP_DBA2J_G0034070
 protein coding gene Chr8:121009204-121037033 (+)
FVB/NJ MGP_FVBNJ_G0034014
 protein coding gene Chr8:120162630-120188883 (+)
LP/J MGP_LPJ_G0034160
 protein coding gene Chr8:127225120-127253598 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034061
 protein coding gene Chr8:138311963-138340108 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034769
 protein coding gene Chr8:125577399-125606319 (+)
PWK/PhJ MGP_PWKPhJ_G0032970
 protein coding gene Chr8:120829718-120858483 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032810
 protein coding gene Chr8:124293709-124322329 (+)
WSB/EiJ MGP_WSBEiJ_G0033385
 protein coding gene Chr8:126306512-126337523 (+)



Homology
more
  • Human Ortholog
    AFG3L1P, AFG3 like matrix AAA peptidase subunit 1, pseudogene
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AFG3L1P, AFG3 like matrix AAA peptidase subunit 1, pseudogene
  • Synonyms
    AFG3, AFG3L1
  • Links
    NCBI Gene ID: 172

  • Chr Location
    16q24.3; chr16:89972580-90002161 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    19 phenotypes from multigenic genotypes
    8 phenotype references
Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable myelination defects or axonal degeneration in the brain and spinal cord and normal mitochondria in the spinal cord.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
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
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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
    706
  • cDNA Data
    121
  • Literature Summary
    1
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031967 Ensembl Gene Model | MGI Sequence Detail 26014 C57BL/6J ±  kb
transcript ENSMUST00000001520 Ensembl | MGI Sequence Detail 4227 Not Applicable  
polypeptide ENSMUSP00000001520 Ensembl | MGI Sequence Detail 789 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 122
    Genomic 1
    cDNA 121

    Microarray probesets 5
Other
Accession IDs
less
MGI:1914568, MGI:1920450
References
more
  • Summaries
    All 40
    Developmental Gene Expression 1
    Gene Ontology 11
    Phenotypes 8
  • Earliest
    J:19723 Nishiguchi S, et al., A survey of genes expressed in undifferentiated mouse embryonal carcinoma F9 cells: characterization of low-abundance mRNAs. J Biochem. 1994 Jul;116(1):128-39
  • Latest
    J:276477 Murru S, et al., Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration. Glia. 2019 Aug;67(8):1526-1541
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
11/12/2024
MGI 6.24 		The Jackson Laboratory