Fxyd1 FXYD domain-containing ion transport regulator 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fxyd1provided by MGI
Official Full Name: FXYD domain-containing ion transport regulator 1provided by MGI
Primary source: MGI:MGI:1889273
See related: Ensembl:ENSMUSG00000036570 AllianceGenome:MGI:1889273
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Plm; Pml; 0610012C17Rik; 1110006M24Rik
Summary: This gene encodes a member of the FXYD 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 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 and act as an accessory protein of Na,K-ATPase. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]
Expression: Broad expression in heart adult (RPKM 122.6), liver adult (RPKM 117.3) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 19.29 cM; 7 B1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (30751103..30758332, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (31051678..31055873, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The FXYD1 protein plays a protective role against pulmonary hypertension and arterial remodeling via redox and inflammatory mechanisms.
Title: The FXYD1 protein plays a protective role against pulmonary hypertension and arterial remodeling via redox and inflammatory mechanisms.
FXYD1 Is Protective Against Vascular Dysfunction.
Title: FXYD1 Is Protective Against Vascular Dysfunction.
Total FXYD1 subunit (modulates Na,K-ATPase activity) abundance was decreased in both mouse models
Title: Isoform-specific Na,K-ATPase and membrane cholesterol remodeling in motor endplates in distinct mouse models of myodystrophy.
Authors studied the male progeny of Fxyd1 null males bred to heterozygous Mecp2 female mice. Maximal NKA enzymatic activity was not altered by the loss of MeCP2, but it increased in mice lacking one Fxyd1 allele, suggesting that NKA activity is under Fxyd1 inhibitory control.
Title: Correcting deregulated Fxyd1 expression rescues deficits in neuronal arborization and potassium homeostasis in MeCP2 deficient male mice.
It was proposed that FXYD1 plays a role in regulating AQP2 retention in apical membrane, and that this involves transfers between raft-like membrane domains in endosomes and plasma membranes.
Title: Impaired AQP2 trafficking in Fxyd1 knockout mice: A role for FXYD1 in regulated vesicular transport.
Both the extracellular PFXYD motif and the transmembrane domain of PLM but not the cytoplasmic tail were necessary for regulation of peak L-type Ca(2+) current amplitude.
Title: Regulation of L-type calcium channel by phospholemman in cardiac myocytes.
Decreased phosphorylation of PLM reduces Na/K pump activity and exacerbates Na overload, contractile dysfunction, and adverse remodelling following aortic constriction in mice.
Title: Cardiac hypertrophy in mice expressing unphosphorylatable phospholemman.
Nitric oxide activates Na/K-ATPase via phospholemman phosphorylation.
Title: Nitric oxide regulates cardiac intracellular Na⁺ and Ca²⁺ by modulating Na/K ATPase via PKCε and phospholemman-dependent mechanism.
The results of this study indicated that reducing FXYD1 levels improves a specific cognitive impairment in MECP2-deficient mice.
Title: Correcting deregulated Fxyd1 expression ameliorates a behavioral impairment in a mouse model of Rett syndrome.
Alterations in PLM expression and phosphorylation are important adaptations post-myocardial infarction.
Title: Phospholemman deficiency in postinfarct hearts: enhanced contractility but increased mortality.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables sodium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in negative regulation of protein glutathionylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of inorganic anion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of organic acid transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of sodium ion export across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of sodium ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle cell contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle cell membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in regulation of sodium ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in T-tubule	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in caveola	ISO Inferred from Sequence Orthology more info
located_in caveola	ISS Inferred from Sequence or Structural Similarity more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcolemma	IMP Inferred from Mutant Phenotype more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISS Inferred from Sequence or Structural Similarity more info
part_of sodium:potassium-exchanging ATPase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: phospholemman

Names: sodium/potassium-transporting ATPase subunit FXYD1

NCBI Reference Sequences (RefSeq)

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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)

NM_019503.4 → NP_062376.2 phospholemman isoform a precursor

See identical proteins and their annotated locations for NP_062376.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC149055, AI853335, AK002585, BY064152, BY132051

UniProtKB/Swiss-Prot

Q9Z239

Conserved Domains (1) summary

pfam02038
Location:27 → 72

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_052991.4 → NP_443717.1 phospholemman isoform b precursor

See identical proteins and their annotated locations for NP_443717.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 3, 4 and 5 encode the same isoform (b).

Source sequence(s)

AA462069, AC149055, AI853335, AK002585

Consensus CDS

CCDS21123.1

UniProtKB/Swiss-Prot

Q9Z239

Related

ENSMUSP00000103745.4, ENSMUST00000108110.5

Conserved Domains (1) summary

pfam02038
Location:24 → 69

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_052992.3 → NP_443718.1 phospholemman isoform b precursor

See identical proteins and their annotated locations for NP_443718.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 3, 4 and 5 encode the same isoform (b).

Source sequence(s)

AC149055, AI853335, AK002585, BY064152, BY132051, W98524

Consensus CDS

CCDS21123.1

UniProtKB/Swiss-Prot

Q9Z239

Related

ENSMUSP00000048460.7, ENSMUST00000039909.13

Conserved Domains (1) summary

pfam02038
Location:24 → 69

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_194321.2 → NP_919302.1 phospholemman isoform b precursor

See identical proteins and their annotated locations for NP_919302.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 3, 4 and 5 encode the same isoform (b).

Source sequence(s)

AA466595, AC149055, CK793316

Consensus CDS

CCDS21123.1

UniProtKB/Swiss-Prot

Q9Z239

Related

ENSMUSP00000071617.5, ENSMUST00000071697.11

Conserved Domains (1) summary

pfam02038
Location:24 → 69

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

30751103..30758332 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030242809.2 → XP_030098669.1 phospholemman isoform X5

Conserved Domains (1) summary

pfam02038
Location:27 → 72

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
XM_011250649.4 → XP_011248951.1 phospholemman isoform X3

Conserved Domains (1) summary

pfam02038
Location:27 → 72

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
XM_011250650.4 → XP_011248952.1 phospholemman isoform X4

See identical proteins and their annotated locations for XP_011248952.1

Conserved Domains (1) summary

pfam02038
Location:24 → 69

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
XM_011250652.4 → XP_011248954.1 phospholemman isoform X4

See identical proteins and their annotated locations for XP_011248954.1

Conserved Domains (1) summary

pfam02038
Location:24 → 69

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
XM_030242808.2 → XP_030098668.1 phospholemman isoform X4

Conserved Domains (1) summary

pfam02038
Location:24 → 69

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
XM_011250648.3 → XP_011248950.1 phospholemman isoform X1

Conserved Domains (1) summary

pfam02038
Location:138 → 183

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
XM_006540219.5 → XP_006540282.2 phospholemman isoform X2

UniProtKB/Swiss-Prot

Q9Z239

Related

ENSMUSP00000145818.2, ENSMUST00000205778.2

Conserved Domains (1) summary

pfam02038
Location:24 → 69

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
XM_011250651.1 → XP_011248953.1 phospholemman isoform X4

See identical proteins and their annotated locations for XP_011248953.1

Conserved Domains (1) summary

pfam02038
Location:24 → 69

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family