FXYD1
Phospholemman
Also known as: PLM, PLM_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00168
- Gene
- FXYD1
- Ensembl
- ENSG00000266964
- Chromosome
- 19
- Canonical length
- 92 aa
- Protein class
- Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Nucleoli,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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 is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
92 residues, UniProt reviewed canonical sequence.
>O00168|FXYD1
1 MASLGHILVF CVGLLTMAKA ESPKEHDPFT YDYQSLQIGG LVIAGILFIL GILIVLSRRC
61 RCKFNQQQRT GEPDEEEGTF RSSIRRLSTR RRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FXYD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 1,675 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 1,675 nTPM
- skeletal muscle: 1,295 nTPM
- tongue: 783 nTPM
- heart muscle: 523 nTPM
- liver: 521 nTPM
- basal ganglia: 412 nTPM
Single-cell type
- bergmann glia: 263 nCPM
- astrocytes: 116 nCPM
- choroid plexus epithelial cells: 38 nCPM
- thymic myoid cells: 34 nCPM
- schwann cells: 31 nCPM
- vascular smooth muscle cells: 21 nCPM
Immune cell
- memory B-cell: 11 nTPM
- naive B-cell: 6.9 nTPM
- T-reg: 6.9 nTPM
- memory CD4 T-cell: 3.6 nTPM
- NK-cell: 2.1 nTPM
- basophil: 1.7 nTPM
Brain region
- choroid plexus: 497 nTPM
- medulla oblongata: 401 nTPM
- thalamus: 388 nTPM
- basal ganglia: 310 nTPM
- midbrain: 286 nTPM
- spinal cord: 279 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.85
- gnomAD pLI
- 0.24
- gnomAD missense Z
- 0.53
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chloride transport
- muscle contraction
- positive regulation of sodium ion export across plasma membrane
- potassium ion transport
- regulation of cardiac muscle cell membrane potential
- regulation of heart contraction
- sodium ion transport
- negative regulation of protein glutathionylation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FXYD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FXYD1 as an antibody target. Whether an autoantibody or antibody against FXYD1 could matter depends on whether native FXYD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FXYD1 is annotated at the cell surface, where native FXYD1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FXYD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...