FXYD5 Gene Summary [Human]

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]

Details

Type
Protein Coding
Official Symbol
FXYD5
Official Name
FXYD domain containing ion transport regulator 5 [Source:HGNC Symbol;Acc:HGNC:4029]
Ensembl ID
ENSG00000089327
Bio databases IDs NCBI: 53827 Ensembl: ENSG00000089327
Aliases FXYD domain containing ion transport regulator 5, dysadherin
Synonyms DYSAD, EF-8, FXYD domain-containing ion transport regulator 5, HSPC113, IWU1, KCT1, OIT2, PRO6241, RIC
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 FXYD5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • channel regulator
  • actin binding
  • potassium channel regulator
  • sodium channel regulator
  • cadherin binding
  • protein binding
  • phenylalanine-X-tyrosine-aspartate (FXYD) family
  • 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
  • kidney disease
  • COVID-19
  • streptozotocin induced type1 diabetes
  • insulin-dependent diabetes mellitus
  • polycystic kidney disease
regulated by
role in cell
  • adhesion
  • association
  • accumulation
  • invasion

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
  • cell surface
  • cellular membrane
  • apical cell surfaces
  • basolateral cell surfaces
  • microsome

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FXYD5 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • potassium ion transport
  • sodium ion transport
  • regulation of sodium ion transmembrane transporter activity
  • microvillus assembly
  • negative regulation of calcium-dependent cell-cell adhesion
  • regulation of ion transport

Cellular Component

Where in the cell the gene product is active
  • membrane
  • basolateral plasma membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • sodium channel regulator activity
  • protein binding
  • actin binding
  • cadherin 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.