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Aliases for FXYD1 Gene

Aliases for FXYD1 Gene

  • FXYD Domain Containing Ion Transport Regulator 1 2 3 5
  • 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

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 Rett Syndrome and Periodic Limb Movement Disorder. Among its related pathways are Ion channel transport and Cardiac conduction. 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

  • May have a functional role in muscle contraction. Induces a hyperpolarization-activated chloride current when exogenously expressed.

Gene Wiki entry for FXYD1 Gene

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

Genomics for FXYD1 Gene

Regulatory Elements for FXYD1 Gene

Enhancers for FXYD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F035136 0.4 ENCODE 6 +0.7 669 5.4 MLX CREB3L1 YBX1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 LSM14A TMEM147-AS1 KIAA0355 ZNF792 HAUS5 RBM42 KMT2B LRFN3 WTIP LINC01766
GH19F035273 0.3 FANTOM5 4.6 +134.4 134445 0.5 POLR2A ZFP64 PRDM1 ZBTB20 HAMP CD22 FXYD1 USF2 GC19P036151
GH19F035293 1 FANTOM5 2.8 +154.7 154728 0.2 KLF8 EZH2 MAG LGI4 FXYD7 HPN SCN1B FXYD1 ARHGAP33 ZNF30 MIR5196 CD22
GH19F035108 1 FANTOM5 Ensembl ENCODE 2.1 -29.2 -29223 1.4 ZNF121 KLF1 POLR2A ZNF341 ZNF175 ZBTB33 ZBTB7A ZIC2 ZBTB17 LGI4 MAG HPN FXYD7 FXYD1 ZNF30 SCN1B ZNF302 ZNF181 HPN-AS1
GH19F035290 0.5 FANTOM5 1.5 +152.2 152212 0.4 KLF1 ZIC2 GLIS2 ZFHX2 ZNF341 GLIS1 ZNF600 ZBTB17 MAG USF2 FAM187B KRTDAP DMKN FFAR2 ENSG00000233214 LGI4 HPN FXYD7
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FXYD1 on UCSC Golden Path with GeneCards custom track

Promoters for FXYD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001817219 411 1201 ATF1 ARID4B THRB YY1 ZNF335 GLIS2 KLF7 ZNF548 EGR2 SP5

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

Genomic Location for FXYD1 Gene

35,138,789 bp from pter
35,143,109 bp from pter
4,321 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K196

    Protein attributes for FXYD1 Gene

    92 amino acids
    Molecular mass:
    10441 Da
    Quaternary structure:
    No Data Available

    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 (PK-A) and protein kinase C (PK-C) in several different tissues (By similarity). Phosphorylated in response to insulin and adrenergic stimulation. May be phosphorylated by DMPK.
  • Palmitoylation increases half-life and stability, it 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

Protein Domains for FXYD1 Gene

Suggested Antigen Peptide Sequences for FXYD1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FXYD family.
  • Belongs to the FXYD family.
genes like me logo Genes that share domains with FXYD1: view

No data available for Gene Families for FXYD1 Gene

Function for FXYD1 Gene

Molecular function for FXYD1 Gene

UniProtKB/Swiss-Prot Function:
May have a functional role in muscle contraction. Induces a hyperpolarization-activated chloride current when exogenously expressed.

Gene Ontology (GO) - Molecular Function for FXYD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IEA --
GO:0017080 sodium channel regulator activity ISS --
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for FXYD1 Gene COMPARTMENTS Subcellular localization image for FXYD1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
cytoskeleton 1
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for FXYD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane NAS,TAS --
GO:0005887 integral component of plasma membrane TAS 9169143
GO:0005890 sodium:potassium-exchanging ATPase complex ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA,TAS 9169143
GO:0006936 muscle contraction TAS 9169143
GO:0008016 regulation of heart contraction TAS 19683723
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
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
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:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FXYD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FXYD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, PaxDb, MaxQB, and MOPED for FXYD1 Gene

Protein tissue co-expression partners for FXYD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FXYD1 Gene:


SOURCE GeneReport for Unigene cluster for FXYD1 Gene:


mRNA Expression by UniProt/SwissProt for FXYD1 Gene:

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.
genes like me logo Genes that share expression patterns with FXYD1: view

Primer Products

Orthologs for FXYD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FXYD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FXYD1 34 35
  • 99.64 (n)
(Canis familiaris)
Mammalia FXYD1 34 35
  • 91.67 (n)
(Bos Taurus)
Mammalia FXYD1 34 35
  • 89.13 (n)
(Rattus norvegicus)
Mammalia Fxyd1 34
  • 86.23 (n)
(Mus musculus)
Mammalia Fxyd1 34 16 35
  • 84.42 (n)
(Monodelphis domestica)
Mammalia FXYD1 35
  • 30 (a)
(Anolis carolinensis)
Reptilia FXYD1 35
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fxyd1 34
  • 64.71 (n)
Str.13949 34
(Danio rerio)
Actinopterygii fxyd6l 35
  • 35 (a)
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

Gene Tree for FXYD1 (if available)
Gene Tree for FXYD1 (if available)

Paralogs for FXYD1 Gene

Paralogs for FXYD1 Gene

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

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 Sequence Context AA Info Type
rs10410149 -- 35,141,288(+) cccgc(C/T)tctcc intron-variant, upstream-variant-2KB
rs10410911 -- 35,141,296(+) tccct(A/G)gcccc intron-variant, upstream-variant-2KB
rs10424787 -- 35,143,294(+) GCCTT(C/T)GCCGC downstream-variant-500B, utr-variant-5-prime
rs1057455 -- 35,142,955(+) ACCTG(C/G)GCGCC upstream-variant-2KB, utr-variant-3-prime
rs111590904 -- 35,138,407(+) CTCCC(A/G)TCCTC intron-variant, upstream-variant-2KB

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)

Relevant External Links for FXYD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for FXYD1 Gene

MalaCards: The human disease database

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

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

Relevant External Links for FXYD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 L.-S.K. … Cuddy M. (Genomics 1997) 2 3 4 64
  2. Expression and distribution of Na, K-ATPase isoforms in the human uterus. (PMID: 20065300) Floyd R.V. … Mobasheri A. (Reprod. Sci. 2010) 3 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Phospholemman is a substrate for myotonic dystrophy protein kinase. (PMID: 10811636) Mounsey J.P. … Moorman J.R. (J. Biol. Chem. 2000) 3 4 64
  5. The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. (PMID: 10950925) Sweadner K.J. … Rael E. (Genomics 2000) 3 4 64

Products for FXYD1 Gene

Sources for FXYD1 Gene

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