FXYD3

FXYD domain-containing ion transport regulator 3 is a protein that in humans is encoded by the FXYD3 gene.^[5][6][7]

FXYD3
Identifiers
Aliases	FXYD3, MAT8, PLML, FXYD domain containing ion transport regulator 3
External IDs	OMIM: 604996; MGI: 107497; HomoloGene: 4356; GeneCards: FXYD3; OMA:FXYD3 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.12 Start 35,115,823 bp[1] End 35,124,324 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B1 Start 30,767,597 bp[2] End 30,776,129 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon rectum olfactory zone of nasal mucosa skin of abdomen mucosa of esophagus skin of leg salivary gland minor salivary glands prostate tonsil Top expressed in epithelium of stomach transitional epithelium of urinary bladder mucous cell of stomach parotid gland pyloric antrum corneal stroma skin of external ear lacrimal gland molar lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sodium channel regulator activity ion channel activity chloride channel activity ion channel regulator activity Cellular component integral component of membrane integral component of plasma membrane extracellular exosome membrane plasma membrane Biological process ion transmembrane transport regulation of cardiac conduction ion transport regulation of sodium ion transmembrane transporter activity chloride transmembrane transport transport potassium ion transport sodium ion transport chloride transport regulation of ion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5349 17178 Ensembl ENSG00000089356 ENSMUSG00000057092 UniProt Q14802 Q61835 RefSeq (mRNA) NM_001136007 NM_001136008 NM_001136009 NM_001136010 NM_001136011 NM_001136012 NM_005971 NM_021910 NM_001387349 NM_001387350 NM_001387352 NM_001387353 NM_001387354 NM_001387355 NM_008557 RefSeq (protein) NP_001129479 NP_001129480 NP_001129481 NP_001129482 NP_001129483 NP_001129484 NP_005962 NP_068710 NP_032583 Location (UCSC) Chr 19: 35.12 – 35.12 Mb Chr 7: 30.77 – 30.78 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7]