ATXN1L Gene Summary [Human]

Predicted to enable DNA binding activity and RNA binding activity. Predicted to be involved in several processes, including learning or memory; regulation of transcription, DNA-templated; and social behavior. Predicted to act upstream of or within several processes, including lung alveolus development; negative regulation of transcription by RNA polymerase II; and positive regulation of hematopoietic stem cell proliferation. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
ATXN1L
Official Name
ataxin 1 like [Source:HGNC Symbol;Acc:HGNC:33279]
Ensembl ID
ENSG00000224470
Bio databases IDs NCBI: 342371 Ensembl: ENSG00000224470
Aliases ataxin 1 like, brother of ataxin 1
Synonyms ataxin 1-like, AW558552, BOAT, BOAT1, C330011L24Rik, D6Mgi37, D8Ertd587e, LOC100131476, RGD1561758
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATXN1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Ataxin-1 and HBP1 module (AXH)
  • protein domain specific binding
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • gout
  • kyphosis
  • cachexia
  • hydrocephalus
  • myocardial infarction
  • omphalocele
  • cyanosis
regulated by
regulates
  • DNA promoter
  • DNA endogenous promoter
  • RNA polymerase II
role in cell
  • proliferation
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm
  • nucleoli

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ATXN1L gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • social behavior
  • negative regulation of transcription from RNA polymerase II promoter
  • lung alveolus development
  • extracellular matrix organization
  • anatomical structure development
  • regulation of transcription, DNA-dependent
  • transcription from RNA polymerase II promoter
  • brain development
  • learning
  • memory

Cellular Component

Where in the cell the gene product is active
  • dendrite
  • nucleus
  • nucleolus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • POZ domain binding
  • DNA binding
  • protein binding
  • RNA binding

Gene-Specific Assays for Results You Can Trust

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