ANXA6 Gene Summary [Human]

Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]

Details

Type
Protein Coding
Official Symbol
ANXA6
Official Name
annexin A6 [Source:HGNC Symbol;Acc:HGNC:544]
Ensembl ID
ENSG00000197043
Bio databases IDs NCBI: 309 Ensembl: ENSG00000197043
Aliases annexin A6
Synonyms annexin A6, Annexin VI, ANX6, AnxVI, Cabm, CALPHOBINDIN2, Camb, CBP68, CPB-II, p68, p70
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 ANXA6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • GTP binding
  • calcium-dependent protein binding
  • cholesterol binding
  • lipid binding
  • binding protein
  • calcium-dependent phospholipid binding
  • ligand-gated ion channel
  • Annexin
  • protein binding
  • identical protein binding
  • ion channel

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • systemic lupus erythematosus
  • metastasis
  • organismal death
  • major depression
  • idiopathic scoliosis
  • diffuse systemic sclerosis
  • Waldenström macroglobulinemia
regulated by
regulates
role in cell
  • degradation in
  • proliferation
  • activation in
  • mitochondrial respiration in
  • phosphorylation in
  • expression in
  • generation in
  • transmembrane potential
  • differentiation
  • invasion by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • microsomal fraction
  • early endosomal fractions
  • myelin enriched fraction
  • detergent resistant lipid raft fraction
  • caveolae-derived endocytic vesicles
  • Cytoplasm
  • perinuclear region
  • cellular membrane
  • Nucleus
  • lysosome
  • Mitochondria
  • intercellular junctions
  • lipid droplets
  • cytosol
  • apical cytoplasm
  • basal cytoplasm
  • apical membrane
  • pre-lysosomal compartments
  • lysosome membrane
  • endosomal membrane
  • zymogen granules
  • sarcolemma
  • smooth microsomes
  • membrane rafts
  • exosomes
  • late endosomal fractions

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ANXA6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • ion transmembrane transport
  • calcium ion transport
  • mitochondrial calcium ion homeostasis
  • regulation of muscle contraction
  • apoptotic signaling pathway
  • negative regulation of sequestering of calcium ion

Cellular Component

Where in the cell the gene product is active
  • late endosome membrane
  • perinuclear region of cytoplasm
  • extracellular vesicular exosome
  • focal adhesion
  • melanosome
  • cytoplasm
  • vesicle membrane
  • sarcolemma
  • membrane
  • mitochondrion
  • lysosomal membrane

Molecular Function

What the gene product does at the molecular level
  • GTP binding
  • identical protein binding
  • phosphatidylserine binding
  • protein binding
  • cholesterol binding
  • ligand-gated ion channel activity
  • calcium ion binding
  • calcium-dependent protein binding
  • lipid binding
  • calcium-dependent phospholipid binding

Gene-Specific Assays for Results You Can Trust

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