MFAP1 Gene Summary [Human]

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in centrosome; microfibril; and nucleoplasm. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
MFAP1
Official Name
microfibril associated protein 1 [Source:HGNC Symbol;Acc:HGNC:7032]
Ensembl ID
ENSG00000140259
Bio databases IDs NCBI: 4236 Ensembl: ENSG00000140259
Aliases microfibril associated protein 1
Synonyms 4432409M24Rik, AMP, Mfap1a, Mfap1b, microfibril associated protein 1, microfibrillar-associated protein 1A, RGD1562232
Species
Human, Homo sapiens
OrthologiesMouse

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 MFAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Microfibril-associated/Pre-mRNA processing
  • 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
  • aortic valve calcification
regulated by
regulates
role in cell
  • cell viability
  • splicing by
  • alternative splicing in

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
  • centrosome
  • spliceosomes
  • nucleoplasm
  • microfibrils
  • extracellular matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MFAP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • nuclear mRNA splicing, via spliceosome

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • centrosome
  • microfibril
  • U2-type spliceosomal complex
  • U2-type precatalytic spliceosome
  • nucleoplasm

Molecular Function

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