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FXYD1 FXYD domain containing ion transport regulator 1 [ Homo sapiens (human) ]

Gene ID: 5348, updated on 8-Dec-2018

Summary

Official Symbol
FXYD1provided by HGNC
Official Full Name
FXYD domain containing ion transport regulator 1provided by HGNC
Primary source
HGNC:HGNC:4025
See related
Ensembl:ENSG00000266964 MIM:602359
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLM
Summary
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]
Expression
Broad expression in liver (RPKM 47.5), heart (RPKM 45.3) and 14 other tissues See more
Orthologs

Genomic context

See FXYD1 in Genome Data Viewer
Location:
19q13.12
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (35137206..35143055)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35629693..35633959)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene FXYD domain containing ion transport regulator 3 Neighboring gene microRNA 6887 Neighboring gene leucine rich repeat LGI family member 4 Neighboring gene FXYD domain containing ion transport regulator 7 Neighboring gene FXYD domain containing ion transport regulator 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ion homeostasis, organism-specific biosystem (from REACTOME)
    Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
  • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
    Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC44983

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chloride channel activity TAS
Traceable Author Statement
more info
PubMed 
ion channel binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ion channel regulator activity IEA
Inferred from Electronic Annotation
more info
 
sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transport TAS
Traceable Author Statement
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
negative regulation of protein glutathionylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of sodium ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac muscle cell membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of heart contraction TAS
Traceable Author Statement
more info
PubMed 
regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of sodium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
T-tubule ISS
Inferred from Sequence or Structural Similarity
more info
 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
caveola ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intercalated disc ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
sarcolemma ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium:potassium-exchanging ATPase complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
phospholemman
Names
sodium/potassium-transporting ATPase subunit FXYD1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001278717.1NP_001265646.1  phospholemman precursor

    See identical proteins and their annotated locations for NP_001265646.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) differs in the 5' UTR compared to variant a. Variants a, b, c and d encode the same protein.
    Source sequence(s)
    BC032800, BM691130, HY151827
    Consensus CDS
    CCDS12445.1
    UniProtKB/Swiss-Prot
    O00168
    Related
    ENSP00000481244.1, ENST00000612146.4
    Conserved Domains (1) summary
    pfam02038
    Location:2469
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  2. NM_001278718.1NP_001265647.1  phospholemman precursor

    See identical proteins and their annotated locations for NP_001265647.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) differs in the 5' UTR compared to variant a. Variants a, b, c and d encode the same protein.
    Source sequence(s)
    BC032800, BM691130, HY111815
    Consensus CDS
    CCDS12445.1
    UniProtKB/Swiss-Prot
    O00168
    Related
    ENSP00000465289.1, ENST00000588715.5
    Conserved Domains (1) summary
    pfam02038
    Location:2469
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  3. NM_005031.4NP_005022.2  phospholemman precursor

    See identical proteins and their annotated locations for NP_005022.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) and variants b, c and d encode the same protein.
    Source sequence(s)
    BM691130, BX115036
    Consensus CDS
    CCDS12445.1
    UniProtKB/Swiss-Prot
    O00168
    Related
    ENSP00000393611.1, ENST00000455515.6
    Conserved Domains (1) summary
    pfam02038
    Location:2469
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  4. NM_021902.3NP_068702.1  phospholemman precursor

    See identical proteins and their annotated locations for NP_068702.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) differs in the 5' UTR compared to variant a. Variants a, b, c and d encode the same protein.
    Source sequence(s)
    BC032800, BM691130, HY107209, HY151101
    Consensus CDS
    CCDS12445.1
    UniProtKB/Swiss-Prot
    O00168
    Related
    ENSP00000343314.3, ENST00000351325.8
    Conserved Domains (1) summary
    pfam02038
    Location:2469
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    35137206..35143055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026874.2XP_016882363.1  phospholemman isoform X1

    UniProtKB/Swiss-Prot
    O00168
    Conserved Domains (1) summary
    pfam02038
    Location:2469
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  2. XM_017026875.2XP_016882364.1  phospholemman isoform X2

    Related
    ENSP00000468535.1, ENST00000588607.5
    Conserved Domains (1) summary
    pfam02038
    Location:4287
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  3. XM_017026876.2XP_016882365.1  phospholemman isoform X2

    Conserved Domains (1) summary
    pfam02038
    Location:4287
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
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