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Protein Coding Gene : Atxn1 ataxin 1

Primary Identifier  MGI:104783 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  20238
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables POZ domain binding activity; RNA binding activity; and chromatin binding activity. Involved in brain development; learning or memory; and social behavior. Acts upstream of or within several processes, including negative regulation of insulin-like growth factor receptor signaling pathway; regulation of transcription by RNA polymerase II; and visual learning. Located in nuclear inclusion body. Part of protein-containing complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; liver; and skeleton. Used to study spinocerebellar ataxia type 1. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 1. Orthologous to human ATXN1 (ataxin 1).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation. [provided by MGI curators]
  • synonyms:
  • Atxn1,
  • MGI:1925909,
  • Atx1,
  • RIKEN cDNA 2900016G23 gene,
  • 2900016G23Rik,
  • expressed sequence C85907,
  • Sca1,
  • ataxin 1,
  • MGI:2145527,
  • spinocerebellar ataxia 1 homolog (human),
  • C85907,
  • MGD-MRK-28075

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Genome

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0 Canonical

0 CDSs

0 Exons

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1 Involved In Mutations

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0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

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Genes/Features --> Phenotypes (MP terms)

Disease

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0 Driver For