F8A1 Gene Summary [Human]

This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
F8A1
Official Name
coagulation factor VIII associated 1 [Source:HGNC Symbol;Acc:HGNC:3547]
Ensembl ID
ENSG00000288722
Bio databases IDs NCBI: 8263 Ensembl: ENSG00000288722
Aliases coagulation factor VIII associated 1
Synonyms coagulation factor VIII associated 1, DXS522E, F8A, HAP40
Species
Human, Homo sapiens

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 F8A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • A2 domain
  • C1 domain
  • 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
  • Huntington disease
regulated by
regulates
role in cell
  • motility

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
  • Cytoplasm
  • Extracellular Space
  • nuclear bodies
  • early endosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human F8A1 gene, providing context for its role in the cell.

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • early endosome
  • nuclear body

Molecular Function

What the gene product does at the molecular level
  • protein 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.