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Atxn1l Gene Detail
Summary
  • Symbol
    Atxn1l
  • Name
    ataxin 1-like
  • Synonyms
    Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895
  • Feature Type
    protein coding gene
  • IDs
    MGI:3694797
    NCBI Gene: 52335
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:109726451-109737739 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 57.22 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    18 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3694797
protein coding gene Chr8:109726451-109737795 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034113
protein coding gene Chr8:112340269-112351562 (-)
A/J MGP_AJ_G0034092
protein coding gene Chr8:107783726-107795006 (-)
AKR/J MGP_AKRJ_G0034019
protein coding gene Chr8:110948138-110959415 (-)
BALB/cJ MGP_BALBcJ_G0034086
protein coding gene Chr8:107992443-108003737 (-)
C3H/HeJ MGP_C3HHeJ_G0033797
protein coding gene Chr8:111652972-111664325 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034606
protein coding gene Chr8:116305868-116317156 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031548
protein coding gene Chr8:100817539-100829000 (-)
CAST/EiJ MGP_CASTEiJ_G0033124
protein coding gene Chr8:111253906-111265196 (-)
CBA/J MGP_CBAJ_G0033771
protein coding gene Chr8:120210344-120221635 (-)
DBA/2J MGP_DBA2J_G0033926
protein coding gene Chr8:107112720-107123997 (-)
FVB/NJ MGP_FVBNJ_G0033870
protein coding gene Chr8:106062134-106073405 (-)
LP/J MGP_LPJ_G0034016
protein coding gene Chr8:112515683-112526966 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033916
protein coding gene Chr8:123230082-123241364 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034625
protein coding gene Chr8:110904065-110919919 (-)
PWK/PhJ MGP_PWKPhJ_G0032827
protein coding gene Chr8:106681246-106692759 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032666
protein coding gene Chr8:109588725-109599992 (-)
WSB/EiJ MGP_WSBEiJ_G0033240
protein coding gene Chr8:111588809-111602815 (-)



Homology
more
  • Human Ortholog
    ATXN1L, ataxin 1 like
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATXN1L, ataxin 1 like
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BOAT, BOAT1
  • Links
    NCBI Gene ID: 342371
    neXtProt AC: NX_P0C7T5
    UniProt: P0C7T5

  • Chr Location
    16q22.2; chr16:71845991-71857333 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 19471
    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: ATXN1L
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 1 allele in 2 genetic backgrounds
    12 phenotypes from multigenic genotypes
    7 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.
Mice homozygous for a null mutation display partial postnatal lethality with hydroencephaly, kyphosis, lethargy and cachexia.
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 population 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 ENSMUSG00000069895 Ensembl Gene Model | MGI Sequence Detail 11289 C57BL/6J ±  kb
transcript ENSMUST00000212605 Ensembl | MGI Sequence Detail 7439 Not Applicable  
polypeptide ENSMUSP00000148324 Ensembl | MGI Sequence Detail 687 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 71
    cDNA 70
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGI:1261787, MGI:1926088, MGI:3642562
References
more
  • Summaries
    All 33
    Developmental Gene Expression 2
    Gene Ontology 9
    Phenotypes 7
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:261279 Rousseaux MWC, et al., ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. 2018 Mar 21;97(6):1235-1243.e5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory