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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
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:123477903-123503916 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 72.10 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    106 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 Chr8:123477862-123503916 (.)
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
    5
  • Human Ortholog
    AFG3L1P, AFG3 like matrix AAA peptidase subunit 1, pseudogene
    Orthology source: HGNC
  • Synonyms
    AFG3, AFG3L1
  • Links
    NCBI Gene ID: 172

  • Chr Location
    16q24.3; chr16:89972580-90000787 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    19 phenotypes from multigenic genotypes
    6 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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
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 36
    Developmental Gene Expression 1
    Gene Ontology 9
    Phenotypes 6
  • 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:237410 Wang S, et al., The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying. PLoS Genet. 2016 Dec;12(12):e1006463

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory