C4A Gene Summary [Human]

This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

Details

Type
Protein Coding
Official Symbol
C4A
Official Name
complement C4A (Rodgers blood group) [Source:HGNC Symbol;Acc:HGNC:1323]
Ensembl ID
ENSG00000206340
Bio databases IDs NCBI: 720 NCBI: 110384692 Ensembl: ENSG00000206340
Aliases complement C4A (Rodgers blood group)
Synonyms C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, complement C4A (Chido/Rodgers blood group), CPAMD2, RG, Slp
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 C4A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • NTR_like
  • Alpha-2-macroglobulin bait region domain
  • ISOPREN_C2_like
  • binding protein
  • Macroglobulin domain MG4
  • A-macroglobulin TED domain
  • A-macroglobulin receptor binding domain
  • protein binding
  • ANATO
  • Alpha-2-macroglobulin family
  • Macroglobulin domain MG3
  • MG2 domain

Pathways

Biological processes and signaling networks where the C4A gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • leukemia
  • severe sepsis
  • HIV infection
  • schizophrenia
  • relapsing multiple sclerosis
  • asthma
  • Huntington disease
  • septic shock
  • diabetes mellitus
  • end stage renal disease
regulated by
regulates
role in cell
  • survival
  • activation
  • chemotaxis
  • degranulation
  • density
  • recruitment

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • detergent resistant lipid raft fraction
  • Cytoplasm
  • cell surface
  • Plasma Membrane
  • Mitochondria
  • endoplasmic reticulum lumen
  • synapse
  • perikaryon
  • axons
  • dendrites
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human C4A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • complement activation
  • positive regulation of apoptotic cell clearance
  • inflammatory response
  • complement activation, classical pathway
  • innate immune response

Cellular Component

Where in the cell the gene product is active
  • dendrite
  • endoplasmic reticulum lumen
  • extracellular space
  • extracellular vesicular exosome
  • blood microparticle
  • synapse
  • neuronal cell body
  • extracellular region
  • axon
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • endopeptidase inhibitor activity
  • complement component C1q binding

Gene-Specific Assays for Results You Can Trust

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