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Aliases for FXYD1 Gene

Aliases for FXYD1 Gene

  • FXYD Domain Containing Ion Transport Regulator 1 2 3
  • PLM 3 4 6
  • Phospholemman 2 3
  • FXYD Domain-Containing Ion Transport Regulator 1 4

External Ids for FXYD1 Gene

Previous Symbols for FXYD1 Gene

  • PLM

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 spinal cord injury. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include chloride channel activity. An important paralog of this gene is FXYD6-FXYD2.

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

Genomic Location for FXYD1 Gene

Start:
35,138,789 bp from pter
End:
35,143,109 bp from pter
Size:
4,321 bases
Orientation:
Plus strand

Genomic View for FXYD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FXYD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXYD1 Gene

Regulatory Elements for FXYD1 Gene

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

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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for FXYD1 Gene

neXtProt entry for FXYD1 Gene

Proteomics data for FXYD1 Gene at MOPED

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 for FXYD1 Gene

Protein Domains for FXYD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FXYD1 Gene

Graphical View of Domain Structure for InterPro Entry

O00168

UniProtKB/Swiss-Prot:

PLM_HUMAN
Family:
  • Belongs to the FXYD family.:
    • O00168
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:0005216 ion channel activity --
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding --
GO:0017080 sodium channel regulator activity ISS --
GO:0044325 ion channel binding ISS --
genes like me logo Genes that share ontologies with FXYD1: view

Phenotypes for FXYD1 Gene

MGI mutant phenotypes for FXYD1:
inferred from 1 alleles
GenomeRNAi human phenotypes for FXYD1:
genes like me logo Genes that share phenotypes with FXYD1: view

Animal Models for FXYD1 Gene

MGI Knock Outs for FXYD1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for FXYD1 Gene COMPARTMENTS Subcellular localization image for FXYD1 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
extracellular 2
lysosome 1

Gene Ontology (GO) - Cellular Components for FXYD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9169143
GO:0005890 sodium:potassium-exchanging ATPase complex ISS --
GO:0016020 membrane --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with FXYD1: view

Pathways for FXYD1 Gene

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

Pathways by source for FXYD1 Gene

Gene Ontology (GO) - Biological Process for FXYD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006821 chloride transport TAS 9169143
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0006936 muscle contraction IEA --
GO:0008016 regulation of heart contraction TAS 19683723
genes like me logo Genes that share ontologies with FXYD1: view

Compounds for FXYD1 Gene

(2) HMDB Compounds for FXYD1 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Cyclic AMP
  • Cyclic AMP
60-92-4
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:

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 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 (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FXYD1 Gene

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

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 35
  • 99.64 (n)
  • 100 (a)
FXYD1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FXYD1 35
  • 89.13 (n)
  • 90.22 (a)
FXYD1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FXYD1 35
  • 91.67 (n)
  • 90.22 (a)
FXYD1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fxyd1 35
  • 84.42 (n)
  • 82.61 (a)
Fxyd1 16
Fxyd1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FXYD1 36
  • 30 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fxyd1 35
  • 86.23 (n)
  • 83.7 (a)
lizard
(Anolis carolinensis)
Reptilia FXYD1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fxyd1 35
  • 64.71 (n)
  • 70.59 (a)
Str.13949 35
zebrafish
(Danio rerio)
Actinopterygii fxyd6l 36
  • 35 (a)
ManyToMany
Species with no ortholog for FXYD1:
  • 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)

Paralogs for FXYD1 Gene

Paralogs for FXYD1 Gene

Selected 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 MAF
rs1672997 -- 35,139,458(+) GGGTG(A/G)CCTTT intron-variant, upstream-variant-2KB
rs3746254 -- 35,140,525(-) ACCAC(C/T)GGAGG intron-variant
rs3826988 -- 35,140,428(-) CAGAT(A/G)GGGCA intron-variant
rs11882684 -- 35,139,843(+) CTCAC(C/T)CCCGT intron-variant
rs12980134 -- 35,137,878(+) CTCCC(A/G)CCTTG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv3849n71 CNV Loss 21882294
nsv911617 CNV Loss 21882294
esv2718490 CNV Deletion 23290073

Relevant External Links for FXYD1 Gene

HapMap Linkage Disequilibrium report
FXYD1

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

Disorders for FXYD1 Gene

(1) MalaCards Diseases for FXYD1 Gene

Search for FXYD1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for FXYD1 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  2. Phospholemman is a substrate for myotonic dystrophy protein kinase. (PMID: 10811636) Mounsey J.P. … Moorman J.R. (J. Biol. Chem. 2000) 3 4
  3. 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
  4. 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
  5. Correlation of gene and protein structures in the FXYD family proteins. (PMID: 16288923) Franzin C.M. … Marassi F.M. (J. Mol. Biol. 2005) 3

Products for FXYD1 Gene

Sources for FXYD1 Gene

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