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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FXYD1
FXYD domain containing ion transport regulator 1
Chromosome 19 · 19q13.12
NCBI Gene: 5348Ensembl: ENSG00000266964.7HGNC: HGNC:4025UniProt: O00168
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
apical plasma membraneintercalated discsodium channel regulator activitypositive regulation of sodium ion export across plasma membraneneurodegenerative diseasedilated cardiomyopathy 1Ihypertrophic cardiomyopathyretinal degeneration
✦AI Summary

FXYD1 (phospholemman) is a single-transmembrane protein that serves as a key regulator of Na+,K+-ATPase activity across multiple tissues. The protein associates with and modulates Na+,K+-ATPase function through phosphorylation-dependent mechanisms, where unphosphorylated FXYD1 inhibits the pump while phosphorylation at Ser-63 or Ser-68 relieves this inhibition and can even stimulate activity beyond baseline levels 1. Mechanistically, FXYD1 slows the conformational transition E2(2K)ATP → E1(3Na)ATP and increases sodium binding affinity, with its cytoplasmic helix docking between αN and αP domains in the E2 conformation 1. FXYD1 is abundantly expressed in metabolically active tissues including heart, kidney, skeletal muscle, and gastrointestinal tract 2. Disease relevance includes downregulation in Hirschsprung's disease affecting colonic function 3, upregulation in recurrent miscarriage where it impairs decidualization by reducing Na+,K+-ATPase activity 4, and altered expression in neurodegenerative diseases contributing to extracellular potassium dysregulation 5. Clinical significance extends to exercise physiology, where FXYD1 expression increases with blood flow restriction training through oxidative stress and AMPK signaling pathways 6, highlighting its role in cellular adaptation to metabolic stress.

Sources cited
1
The protein associates with and modulates Na+,K+-ATPase function through phosphorylation-dependent mechanisms, where unphosphorylated FXYD1 inhibits the pump while phosphorylation at Ser-63 or Ser-68 relieves this inhibition and can even stimulate activity beyond baseline levels .
PMID: 26429909
2
FXYD1 is abundantly expressed in metabolically active tissues including heart, kidney, skeletal muscle, and gastrointestinal tract .
PMID: 19879113
3
Disease relevance includes downregulation in Hirschsprung's disease affecting colonic function , upregulation in recurrent miscarriage where it impairs decidualization by reducing Na+,K+-ATPase activity , and altered expression in neurodegenerative diseases contributing to extracellular potassium dysregulation .
PMID: 30386899
4
Disease relevance includes downregulation in Hirschsprung's disease affecting colonic function , upregulation in recurrent miscarriage where it impairs decidualization by reducing Na+,K+-ATPase activity , and altered expression in neurodegenerative diseases contributing to extracellular potassium dysregulation .
PMID: 39730944
5
Disease relevance includes downregulation in Hirschsprung's disease affecting colonic function , upregulation in recurrent miscarriage where it impairs decidualization by reducing Na+,K+-ATPase activity , and altered expression in neurodegenerative diseases contributing to extracellular potassium dysregulation .
PMID: 38462589
6
Clinical significance extends to exercise physiology, where FXYD1 expression increases with blood flow restriction training through oxidative stress and AMPK signaling pathways , highlighting its role in cellular adaptation to metabolic stress.
PMID: 29383885
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
dilated cardiomyopathy 1IOpen Targets
0.05Suggestive
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
retinal degenerationOpen Targets
0.04Suggestive
arterial calcification, generalized, of infancy, 2Open Targets
0.03Suggestive
Generalized arterial calcification of infancyOpen Targets
0.03Suggestive
ATTRV122I amyloidosisOpen Targets
0.03Suggestive
hypertrophic cardiomyopathy 4Open Targets
0.03Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.03Suggestive
familial idiopathic dilatation of the right atriumOpen Targets
0.03Suggestive
atrial heart septal defectOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
Rett syndromeOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
myocardial infarctionOpen Targets
0.02Suggestive
pulmonary hypertensionOpen Targets
0.01Suggestive
oculocutaneous albinismOpen Targets
0.01Suggestive
Pallister-Hall syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRKACAProtein interaction94%PRKACBProtein interaction94%PRKACGProtein interaction94%ATP1A1Protein interaction90%ATP1A2Protein interaction90%ATP1A3Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Heart
97%
Brain
27%
Ovary
25%
Lung
14%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
FXYD1PRKACAPRKACBPRKACGATP1A1ATP1A2ATP1A3
PROTEIN STRUCTURE
Preparing viewer…
PDB2JO1 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.37Tolerant
Observed/Expected LoF0.39 [0.20–0.83]
RankingsWhere FXYD1 stands among ~20K protein-coding genes
  • #9,332of 20,598
    Most Researched46
  • #7,082of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedFXYD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease.
PMID: 30386899
Pediatr Surg Int · 2019
1.00
2
Molecular Mechanisms and Kinetic Effects of FXYD1 and Phosphomimetic Mutants on Purified Human Na,K-ATPase.
PMID: 26429909
J Biol Chem · 2015
0.90
3
Increased FXYD1 and PGC-1α mRNA after blood flow-restricted running is related to fibre type-specific AMPK signalling and oxidative stress in human muscle.
PMID: 29383885
Acta Physiol (Oxf) · 2018
0.80
4
FXYD1 was identified as a hub gene in recurrent miscarriage and involved in decidualization via regulating Na/K-ATPase activity.
PMID: 39730944
J Assist Reprod Genet · 2025
0.70
5
Differential cellular expression of FXYD1 (phospholemman) and FXYD2 (gamma subunit of Na, K-ATPase) in normal human tissues: a study using high density human tissue microarrays.
PMID: 19879113
Ann Anat · 2010
0.60