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Aliases for FXYD1 Gene

Aliases for FXYD1 Gene

  • FXYD Domain Containing Ion Transport Regulator 1 2 3 5
  • Sodium/Potassium-Transporting ATPase Subunit FXYD1 3 4
  • Phospholemman 2 3
  • PLM 3 4
  • FXYD Domain-Containing Ion Transport Regulator 1 4

External Ids for FXYD1 Gene

Previous HGNC Symbols for FXYD1 Gene

  • PLM

Previous GeneCards Identifiers for FXYD1 Gene

  • GC19P036247
  • GC19P036078
  • GC19P040305
  • GC19P040322
  • GC19P040323
  • GC19P040324
  • GC19P035629
  • GC19P032137
  • GC19P035139
  • GC19P035140
  • GC19P035266
  • GC19P035582
  • GC19P036220
  • GC19P036397
  • GC19P036558

Summaries for FXYD1 Gene

Entrez Gene Summary for FXYD1 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]

GeneCards Summary for FXYD1 Gene

FXYD1 (FXYD Domain Containing Ion Transport Regulator 1) is a Protein Coding gene. Diseases associated with FXYD1 include Periodic Limb Movement Disorder and Rett Syndrome. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ion channel activity and chloride channel activity. An important paralog of this gene is FXYD6.

UniProtKB/Swiss-Prot for FXYD1 Gene

  • Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone.

Gene Wiki entry for FXYD1 Gene

Additional gene information for FXYD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FXYD1 Gene

Genomics for FXYD1 Gene

GeneHancer (GH) Regulatory Elements for FXYD1 Gene

Promoters and enhancers for FXYD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J035136 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 655.9 +0.7 669 5.4 HDGF FOXA2 MLX ARID4B SIN3A YBX1 ZNF2 YY1 ZNF143 ZNF548 ENSG00000221857 FXYD7 FXYD1 ENSG00000279619 ZNF599 TMEM147-AS1 LSM14A HAUS5 ZNF792 KIAA0355
GH19J035273 Enhancer 0.5 FANTOM5 4.6 +134.4 134445 0.5 RXRA POLR2A ZFP64 PRDM1 ZBTB20 HAMP CD22 FXYD1 USF2 GC19P036869
GH19J035108 Enhancer 1 FANTOM5 ENCODE dbSUPER 2.1 -29.2 -29222 1.4 ZNF121 KLF1 POLR2A ZNF341 ZBTB33 ZIC2 LGI4 MAG HPN FXYD7 FXYD1 ZNF30 SCN1B ZNF302 ZNF181 HPN-AS1
GH19J035293 Enhancer 0.5 FANTOM5 dbSUPER 2.8 +154.7 154728 0.2 MAG LGI4 FXYD7 HPN SCN1B FXYD1 ARHGAP33 ZNF30 CD22
GH19J035134 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 0.7 -3.5 -3453 1.5 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF207 ZNF143 KLF13 MCM3 LGI4 KMT2B LSM14A RBM42 PROSER3 ZNF792 KIAA0355 ENSG00000221857 HAUS5 ZNF599
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FXYD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FXYD1 gene promoter:
  • AML1a

Genomic Locations for FXYD1 Gene

Genomic Locations for FXYD1 Gene
chr19:35,138,789-35,143,109
(GRCh38/hg38)
Size:
4,321 bases
Orientation:
Plus strand
chr19:35,629,712-35,634,013
(GRCh37/hg19)
Size:
4,302 bases
Orientation:
Plus strand

Genomic View for FXYD1 Gene

Genes around FXYD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXYD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXYD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXYD1 Gene

Proteins for FXYD1 Gene

  • Protein details for FXYD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00168-PLM_HUMAN
    Recommended name:
    Phospholemman
    Protein Accession:
    O00168
    Secondary Accessions:
    • A8K196

    Protein attributes for FXYD1 Gene

    Size:
    92 amino acids
    Molecular mass:
    10441 Da
    Quaternary structure:
    • Homotetramer (PubMed:16597826). Monomer (PubMed:17511473). Regulatory subunit of the sodium/potassium-transporting ATPase (NKA) which is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit (By similarity). The monomeric form associates with NKA while the oligomeric form does not (By similarity). Interacts with the catalytic alpha-1 subunit ATP1A1 (By similarity). Also interacts with the catalytic alpha-2 and alpha-3 subunits ATP1A2 and ATP1A3 (By similarity). Very little interaction with ATP1A1, ATP1A2 or ATP1A3 when phosphorylated at Ser-83 (By similarity). Interacts with the non-catalytic beta-1 subunit ATP1B1 (By similarity). Oxidative stress decreases interaction with ATP1A1 but increases interaction with ATP1B1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for FXYD1 Gene

neXtProt entry for FXYD1 Gene

Post-translational modifications for FXYD1 Gene

  • Major plasma membrane substrate for cAMP-dependent protein kinase (PKA) and protein kinase C (PKC) in several different tissues (By similarity). Phosphorylated in response to insulin and adrenergic stimulation (By similarity). Phosphorylation at Ser-88 stimulates sodium/potassium-transporting ATPase activity while the unphosphorylated form inhibits sodium/potassium-transporting ATPase activity (By similarity). Phosphorylation increases tetramerization, decreases binding to ATP1A1 and reduces inhibition of ATP1A1 activity (By similarity). Phosphorylation at Ser-83 leads to greatly reduced interaction with ATP1A1, ATP1A2 and ATP1A3 (By similarity). May be phosphorylated by DMPK (PubMed:10811636).
  • Palmitoylation increases half-life and stability and is enhanced upon phosphorylation at Ser-88 by PKA.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FXYD1 Gene

Domains & Families for FXYD1 Gene

Gene Families for FXYD1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for FXYD1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FXYD1 Gene

Graphical View of Domain Structure for InterPro Entry

O00168

UniProtKB/Swiss-Prot:

PLM_HUMAN :
  • The cytoplasmic domain is sufficient to regulate sodium/potassium-transporting ATPase activity.
  • Belongs to the FXYD family.
Domain:
  • The cytoplasmic domain is sufficient to regulate sodium/potassium-transporting ATPase activity.
Family:
  • Belongs to the FXYD family.
genes like me logo Genes that share domains with FXYD1: view

Function for FXYD1 Gene

Molecular function for FXYD1 Gene

UniProtKB/Swiss-Prot Function:
Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone.

Gene Ontology (GO) - Molecular Function for FXYD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity TAS 9169143
GO:0017080 sodium channel regulator activity ISS,IEA --
GO:0044325 ion channel binding ISS --
genes like me logo Genes that share ontologies with FXYD1: view
genes like me logo Genes that share phenotypes with FXYD1: view

Animal Models for FXYD1 Gene

MGI Knock Outs for FXYD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for FXYD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FXYD1 Gene

Localization for FXYD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXYD1 Gene

Cell membrane, sarcolemma; Single-pass type I membrane protein. Apical cell membrane; Single-pass type I membrane protein. Membrane, caveola. Note=Detected in the apical cell membrane in brain. In myocytes, localizes to sarcolemma, t-tubules and intercalated disks. {ECO:0000250 UniProtKB:O08589}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FXYD1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FXYD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,NAS --
GO:0005887 integral component of plasma membrane TAS 9169143
GO:0005890 sodium:potassium-exchanging ATPase complex ISS --
GO:0005901 caveola ISS --
GO:0014704 intercalated disc ISS --
genes like me logo Genes that share ontologies with FXYD1: view

Pathways & Interactions for FXYD1 Gene

genes like me logo Genes that share pathways with FXYD1: view

Pathways by source for FXYD1 Gene

SIGNOR curated interactions for FXYD1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for FXYD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006821 chloride transport TAS 9169143
GO:0006936 muscle contraction TAS 9169143
genes like me logo Genes that share ontologies with FXYD1: view

Drugs & Compounds for FXYD1 Gene

(1) Drugs for FXYD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(1) Additional Compounds for FXYD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor
16887-00-6
genes like me logo Genes that share compounds with FXYD1: view

Transcripts for FXYD1 Gene

Unigene Clusters for FXYD1 Gene

FXYD domain containing ion transport regulator 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FXYD1 Gene

No ASD Table

Relevant External Links for FXYD1 Gene

GeneLoc Exon Structure for
FXYD1
ECgene alternative splicing isoforms for
FXYD1

Expression for FXYD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FXYD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FXYD1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.1).

Protein differential expression in normal tissues from HIPED for FXYD1 Gene

This gene is overexpressed in Adrenal (45.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FXYD1 Gene



Protein tissue co-expression partners for FXYD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FXYD1 Gene:

FXYD1

SOURCE GeneReport for Unigene cluster for FXYD1 Gene:

Hs.442498

mRNA Expression by UniProt/SwissProt for FXYD1 Gene:

O00168-PLM_HUMAN
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 without mucosa, prostate without endothelial lining, spleen, and testis.

Evidence on tissue expression from TISSUES for FXYD1 Gene

  • Heart(4.7)
  • Nervous system(4.7)
  • Lung(4.3)
  • Muscle(4.1)
  • Liver(3.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with FXYD1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FXYD1 Gene

Orthologs for FXYD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FXYD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FXYD1 34 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FXYD1 34 33
  • 91.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FXYD1 34 33
  • 89.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fxyd1 33
  • 86.23 (n)
mouse
(Mus musculus)
Mammalia Fxyd1 16 34 33
  • 84.42 (n)
oppossum
(Monodelphis domestica)
Mammalia FXYD1 34
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FXYD1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fxyd1 33
  • 64.71 (n)
Str.13949 33
zebrafish
(Danio rerio)
Actinopterygii fxyd6l 34
  • 35 (a)
ManyToMany
Species where no ortholog for FXYD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FXYD1 Gene

ENSEMBL:
Gene Tree for FXYD1 (if available)
TreeFam:
Gene Tree for FXYD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FXYD1: view image

Paralogs for FXYD1 Gene

Paralogs for FXYD1 Gene

(5) SIMAP similar genes for FXYD1 Gene using alignment to 3 proteins:

  • PLM_HUMAN
  • C7E9P5_HUMAN
  • K7EQG4_HUMAN
genes like me logo Genes that share paralogs with FXYD1: view

Variants for FXYD1 Gene

Sequence variations from dbSNP and Humsavar for FXYD1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000616306 -- 35,135,412(+) G/T upstream_transcript_variant
rs1000911485 -- 35,135,368(+) T/C upstream_transcript_variant
rs1001085235 -- 35,139,624(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001348082 -- 35,138,281(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1002076313 -- 35,139,484(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FXYD1 Gene

Variant ID Type Subtype PubMed ID
esv2718490 CNV deletion 23290073
nsv953282 CNV deletion 24416366

Variation tolerance for FXYD1 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FXYD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXYD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXYD1 Gene

Disorders for FXYD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FXYD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
periodic limb movement disorder
  • nocturnal myoclonus
rett syndrome
  • rtt
sleep disorder
  • non-organic sleep disorder
apnea, obstructive sleep
  • osa
- elite association - COSMIC cancer census association via MalaCards
Search FXYD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FXYD1

genes like me logo Genes that share disorders with FXYD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FXYD1 Gene

Publications for FXYD1 Gene

  1. Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1. (PMID: 9169143) Chen LS … Cuddy M (Genomics 1997) 2 3 4 58
  2. Expression and distribution of Na, K-ATPase isoforms in the human uterus. (PMID: 20065300) Floyd RV … Mobasheri A (Reproductive sciences (Thousand Oaks, Calif.) 2010) 3 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. (PMID: 10950925) Sweadner KJ … Rael E (Genomics 2000) 3 4 58
  5. Phospholemman is a substrate for myotonic dystrophy protein kinase. (PMID: 10811636) Mounsey JP … Moorman JR (The Journal of biological chemistry 2000) 3 4 58

Products for FXYD1 Gene

Sources for FXYD1 Gene

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