Ataxin 1 like

Protein-coding gene in the species Homo sapiens
ATXN1L
Identifiers
AliasesATXN1L, BOAT, BOAT1, ataxin 1 like
External IDsOMIM: 614301; MGI: 3694797; HomoloGene: 19471; GeneCards: ATXN1L; OMA:ATXN1L - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for ATXN1L
Genomic location for ATXN1L
Band16q22.2Start71,808,439 bp[1]
End71,885,268 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for ATXN1L
Genomic location for ATXN1L
Band8 D3|8 57.22 cMStart110,453,083 bp[2]
End110,464,371 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • pancreatic epithelial cell

  • pancreatic ductal cell

  • cardiac muscle tissue of right atrium

  • myocardium of left ventricle

  • oocyte

  • tibialis anterior muscle

  • mucosa of ileum

  • parotid gland

  • secondary oocyte
Top expressed in
  • ascending aorta

  • aortic valve

  • zygote

  • secondary oocyte

  • otolith organ

  • utricle

  • superior cervical ganglion

  • ciliary body

  • primary oocyte

  • retinal pigment epithelium
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • DNA binding
  • protein binding
  • RNA binding
Cellular component
  • dendrite
  • cell projection
  • nucleolus
  • nucleus
  • nucleoplasm
Biological process
  • positive regulation of hematopoietic stem cell proliferation
  • lung alveolus development
  • extracellular matrix organization
  • regulation of transcription, DNA-templated
  • negative regulation of transcription by RNA polymerase II
  • transcription, DNA-templated
  • brain development
  • learning
  • memory
  • social behavior
  • nervous system development
  • anatomical structure development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

342371

52335

Ensembl

ENSG00000224470

ENSMUSG00000069895

UniProt

P0C7T5

P0C7T6

RefSeq (mRNA)

NM_001137675

NM_001080930
NM_001368350
NM_001368351
NM_001368352

RefSeq (protein)

NP_001131147

NP_001074399
NP_001355279
NP_001355280
NP_001355281

Location (UCSC)Chr 16: 71.81 – 71.89 MbChr 8: 110.45 – 110.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ataxin 1 like is a protein that in humans is encoded by the ATXN1L gene. [5]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000224470 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000069895 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Ataxin 1 like". Retrieved 2017-09-19.

Further reading

  • Mizutani A, Wang L, Rajan H, Vig PJ, Alaynick WA, Thaler JP, Tsai CC (2005). "Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1". EMBO J. 24 (18): 3339–51. doi:10.1038/sj.emboj.7600785. PMC 1224676. PMID 16121196.


  • v
  • t
  • e