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Atl1 Gene Detail
Summary
  • Symbol
    Atl1
  • Name
    atlastin GTPase 1
  • Synonyms
    AD-FSP, FSP1, SPG3, Spg3a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921241
    NCBI Gene: 73991
  • Gene Overview
    MyGene.info: ATL1
  • Alliance
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:69893105-69964085 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 28.94 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    285 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921241
protein coding gene Chr12:69892614-69966417 (.)
129S1/SvImJ MGP_129S1SvImJ_G0019803
protein coding gene Chr12:69609247-69689783 (+)
A/J MGP_AJ_G0019761
protein coding gene Chr12:67020056-67089912 (+)
AKR/J MGP_AKRJ_G0019737
protein coding gene Chr12:69022184-69099889 (+)
BALB/cJ MGP_BALBcJ_G0019741
protein coding gene Chr12:67481766-67552186 (+)
C3H/HeJ MGP_C3HHeJ_G0019547
protein coding gene Chr12:69492383-69572451 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020193
protein coding gene Chr12:71838326-71916802 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017813
protein coding gene Chr12:64558381-64627298 (+)
CAST/EiJ MGP_CASTEiJ_G0019098
protein coding gene Chr12:64246135-64319920 (+)
CBA/J MGP_CBAJ_G0019516
protein coding gene Chr12:74491515-74588150 (+)
DBA/2J MGP_DBA2J_G0019632
protein coding gene Chr12:66934151-67005105 (+)
FVB/NJ MGP_FVBNJ_G0019619
protein coding gene Chr12:65832629-65902974 (+)
LP/J MGP_LPJ_G0019704
protein coding gene Chr12:69576597-69651779 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019658
protein coding gene Chr12:77808704-77883151 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020228
protein coding gene Chr12:68504044-68584381 (+)
PWK/PhJ MGP_PWKPhJ_G0018863
protein coding gene Chr12:61200443-61274572 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018658
protein coding gene Chr12:62877309-62954922 (+)
WSB/EiJ MGP_WSBEiJ_G0019149
protein coding gene Chr12:69129140-69206552 (+)



Homology
more
  • Human Ortholog
    ATL1, atlastin GTPase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATL1, atlastin GTPase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AD-FSP, atlastin1, FSP1, GBP3, HSN1D, SPG3, SPG3A
  • Links
    NCBI Gene ID: 51062
    neXtProt AC: NX_Q8WXF7
    UniProt: Q8WXF7

  • Chr Location
    14q22.1; chr14:50533082-50633068 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 9302
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ATL1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human ATL1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    8 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis.
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 73991 NCBI Gene Model | MGI Sequence Detail 70981 C57BL/6J ±  kb
    transcript NM_178628 RefSeq | MGI Sequence Detail 2818 C57BL/6  
    polypeptide Q8BH66 UniProt | EBI | MGI Sequence Detail 558 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 12
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 8
    • 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:260950 Zhao G, et al., Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology. Exp Cell Res. 2016 Nov 15;349(1):32-44

    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
    11/27/2018
    MGI 6.13
    The Jackson Laboratory