FXYD3

(FXYD domain-containing ion transport regulator 3)

 

  • Alias                                 (According to NCBI)

 
  • MAT-8
  • MAT8
  • PLML
  • FXYD domain containing ion transport regulator 3
  • FXYD domain-containing ion transport regulator 3
  • phospholemman-like protein
  • phospholemman-like, expressed in breast tumors, 8kD
  • FXYD domain-containing ion transport regulator 3 precursor (Chloride conductance inducer protein
    Mat-8) (Mammary tumor 8 kDa protein) (Phospholemman-like).
  • 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. The protein encoded by this gene may function as a chloride channel or as a chloride channel regulator. Two transcript variants encode two different isoforms of the protein; in addition, transcripts utilizing alternative polyA signals have been described in the literature.
  • Location: 19q13.11-q13.12
  • Orientation:  plus strand
  • Size: 8429 bp
  •  9 exons
  • DNA sequence (Human): NC_000019  

  • CGH (19q 13.11-13.12) :  Losses (%) -6.1     Gain (%) 5.0  

  • Mutations and SNPs (According to HGMD and SNP)
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size:  87 amino acids; 9263 Da
  • Catalytic activity:

  • Subcellular location: Type I membrane protein (Potential).

  • Protein domains

 

       

  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:

 
 
  • Clinical                            (According to OMIM, PubMed)