PAXBP1 Gene Summary [Human]

Predicted to enable DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of histone methylation; positive regulation of myoblast proliferation; and regulation of skeletal muscle satellite cell proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
PAXBP1
Official Name
PAX3 and PAX7 binding protein 1 [Source:HGNC Symbol;Acc:HGNC:13579]
Ensembl ID
ENSG00000159086
Bio databases IDs NCBI: 94104 Ensembl: ENSG00000159086
Aliases PAX3 and PAX7 binding protein 1, functional spliceosome-associated protein 105, GC-rich sequence DNA-binding factor candidate
Synonyms 1810007M14Rik, AI021902, BM020, C21orf66, FSAP105, GCFC, GCFC1, GC-rich sequence DNA-binding factor candidate, LOC683880, Pax3/7bp, PAX3 and PAX7 binding protein 1
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 PAXBP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • enzyme binding
  • transcription factor binding
  • GC-rich sequence DNA-binding factor-like protein

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
  • DNA promoter
  • DNA endogenous promoter
  • RNA polymerase II
regulated by
disease
  • Down syndrome
role in cell
  • proliferation

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
  • interchromatin granule cluster fractions
  • spliceosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PAXBP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • muscle organ development
  • positive regulation of myoblast proliferation
  • transcription from RNA polymerase II promoter
  • positive regulation of transcription from RNA polymerase II promoter
  • regulation of satellite cell proliferation
  • nuclear mRNA splicing, via spliceosome

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • DNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.