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FLASH GENE
Symbol FXYD1 contributors: mct - updated : 15-05-2018
HGNC name FXYD domain containing ion transport regulator 1 (phospholemman)
HGNC id 4025
Location 19q13.12      Physical location : 35.629.731 - 35.633.953
Genatlas name phospholemman, plasma membrane substrate for PKA and PKC
Synonym name phospholemman
Synonym symbol(s) PLM, MGC44983
DNA
TYPE functioning gene
STRUCTURE 5.85 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
motif
text structure promoter containing an endogenous MECP2 target
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 575 - 92 - 2016 26410457
8 - 599 - 92 - 2016 26410457
8 - 709 - 92 - 2016 26410457
8 - 603 - 92 - 2016 26410457
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousnervecranial nerve  highly
Urinarykidneytubulecollecting duct   Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminus positively charged extracellular
  • a 35 AA signature with the PFXYD motif at the beginning
  • a single transmembrane (TM) domain
  • C-terminus on the cytoplasmic side of the membrane, containing three phosphorylation sites
  • conjugated PhosphoP , Acetylated
    HOMOLOGY
    Homologene
    FAMILY FXYD family of small ion transport regulators
    CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    text specifically localized to the apical membrane of polarized epithelial cells forming the choroid plexus
    basic FUNCTION
  • transmembrane modulator of Na+, K+-ATPase activity, controling cell excitability by modulating Na+,K+-ATPase activity
  • may contribute to the pathogenesis of other brain disorders linked to aberrant MECP2 expression or activity including schizophrenia and age-related neurodegenerative disease
  • may have been assembled from discrete structural modules through exon shuffling
  • appears to play an important role in fine tuning the gating kinetics of cardiac calcium channels and likely plays an important role in shaping the cardiac action potential and regulating Ca(2+) dynamics in the heart
  • principal sarcolemmal substrate for protein kinases A and C in the heart, regulating the cardiac sodium pump
  • roles for the Na,K-ATPase subunits, ATP1A1 and FXYD1, during brain ventricle development
  • regulates important ion transporters in the heart and offers a tempting target for development of drugs to treat heart failure.
  • phospholemman, a 72 amino acid accessory protein which forms part of the Na pump complex, is the key nexus linking cellular signaling to pump regulation
  • FXYD1 encodes for phospholemman, a regulatory subunit of the cardiac Na(+)/K(+)-ATPase
  • limits Ca(2+) influx in cardiac myocytes by reducing maximal L-type Ca(2+) current (ICa) and accelerating voltage-dependent inactivation
  • FXYD1 plays a role in regulating AQP2 retention in apical membrane, and this involves transfers between raft-like membrane domains in endosomes and plasma membranes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component protein constituent of transmembrane
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacted with the intracellular loop of SLC8A1, most likely at residues 218-358 (inhibits cardiac Na+/Ca2+ exchanger)
  • has recently been recognized as a critical regulator of ATP1A1 in the heart
  • phosphorylation of FXYD1 is capable of stimulating the activity of ATPA1, ATPA2 in skeletal muscle
  • FXYD1 (phospholemman), better known as a regulator of Na,K-ATPase, has a role in AQP2 trafficking
  • cell & other
    REGULATION
    Other palmitoylation of FXYD1 controls its turnover, and palmitoylated FXYD1 inhibits the sodium pump
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in frontal cortex neurons of Rett patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target drugs blocking FXYD1 function to ameliorate RTT symptoms
    ANIMAL & CELL MODELS