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

    Gene ID: 56188, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Fxyd1 in Genome Data Viewer
    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_000073.7Genomic Context describing neighboring genes Neighboring gene FXYD domain-containing ion transport regulator 5 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:31825489-31825598 Neighboring gene predicted gene, 38984 Neighboring gene microRNA 7050 Neighboring gene FXYD domain-containing ion transport regulator 7 Neighboring gene leucine-rich repeat LGI family, member 4 Neighboring gene FXYD domain-containing ion transport regulator 3 Neighboring gene predicted gene, 53358

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
     
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_019503.4NP_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:2772
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    2. NM_052991.4NP_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:2469
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    3. NM_052992.3NP_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:2469
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    4. NM_194321.2NP_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:2469
      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

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      30751103..30758332 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242809.2XP_030098669.1  phospholemman isoform X5

      Conserved Domains (1) summary
      pfam02038
      Location:2772
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    2. XM_011250649.4XP_011248951.1  phospholemman isoform X3

      Conserved Domains (1) summary
      pfam02038
      Location:2772
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    3. XM_011250650.4XP_011248952.1  phospholemman isoform X4

      See identical proteins and their annotated locations for XP_011248952.1

      Conserved Domains (1) summary
      pfam02038
      Location:2469
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    4. XM_011250652.4XP_011248954.1  phospholemman isoform X4

      See identical proteins and their annotated locations for XP_011248954.1

      Conserved Domains (1) summary
      pfam02038
      Location:2469
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    5. XM_030242808.2XP_030098668.1  phospholemman isoform X4

      Conserved Domains (1) summary
      pfam02038
      Location:2469
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    6. XM_011250648.3XP_011248950.1  phospholemman isoform X1

      Conserved Domains (1) summary
      pfam02038
      Location:138183
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    7. XM_006540219.5XP_006540282.2  phospholemman isoform X2

      UniProtKB/Swiss-Prot
      Q9Z239
      Related
      ENSMUSP00000145818.2, ENSMUST00000205778.2
      Conserved Domains (1) summary
      pfam02038
      Location:2469
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    8. XM_011250651.1XP_011248953.1  phospholemman isoform X4

      See identical proteins and their annotated locations for XP_011248953.1

      Conserved Domains (1) summary
      pfam02038
      Location:2469
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family