• Gene id: 5348

Gene Summary

• Gene Symbol: FXYD1   Gene   UCSC   Ensembl
• Aliases: PLM
• Gene name: FXYD domain containing ion transport regulator 1
• Alternate names: phospholemman, sodium/potassium-transporting ATPase subunit FXYD1,
• Gene location: 19q13.12 (35137205: 35143108)     Exons: 12     NC_000019.10
• Gene summary(Entrez): 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 f
• OMIM: 602359

Protein Summary

• Protein general information: O00168  
  • Name: Phospholemman (FXYD domain containing ion transport regulator 1) (Sodium/potassium transporting ATPase subunit FXYD1)
  • Length: 92  
  • Mass: 10441
  • Tissue specificity: Highest expression in skeletal muscle and heart. Moderate levels in brain, placenta, lung, liver, pancreas, uterus, bladder, prostate, small intestine and colon with mucosal lining. Very low levels in kidney, colon and small intestine
• Sequence:

  MASLGHILVFCVGLLTMAKAESPKEHDPFTYDYQSLQIGGLVIAGILFILGILIVLSRRCRCKFNQQQRTGEPDE
  EEGTFRSSIRRLSTRRR

• Structural information:
  • Interpro: IPR000272  
  • Prosite: PS01310
  • PDB: 2J1I 2JO1
  • PDBsum: 2J1I 2JO1
  • STRING: ENSP00000481244
• Other Databases: GeneCards:  FXYD1  Malacards:  FXYD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000649	regulation of sodium ion transmembrane transporter activity	IBA	biological process
GO:0017080	sodium channel regulator activity	IBA	molecular function
GO:0043269	regulation of ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0099106	ion channel regulator activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006821	chloride transport	TAS	biological process
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005886	plasma membrane	NAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	IEA	biological process
GO:1903278	positive regulation of sodium ion export across plasma membrane	IEA	biological process
GO:0086036	regulation of cardiac muscle cell membrane potential	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0017080	sodium channel regulator activity	IEA	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0017080	sodium channel regulator activity	ISS	molecular function
GO:2000649	regulation of sodium ion transmembrane transporter activity	ISS	biological process
GO:0008016	regulation of heart contraction	TAS	biological process
GO:1903278	positive regulation of sodium ion export across plasma membrane	ISS	biological process
GO:0086036	regulation of cardiac muscle cell membrane potential	ISS	biological process
GO:0042383	sarcolemma	ISS	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0042383	sarcolemma	ISS	cellular component
GO:0005901	caveola	ISS	cellular component
GO:1903278	positive regulation of sodium ion export across plasma membrane	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0010734	negative regulation of protein glutathionylation	ISS	biological process
GO:0030315	T-tubule	ISS	cellular component
GO:0014704	intercalated disc	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq