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

    Gene ID: 5348, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:4025
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See FXYD1 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35137188..35143109)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37681906..37687737)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35629728..35634013)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene FXYD domain containing ion transport regulator 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35613161-35614050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35614051-35614938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14456 Neighboring gene microRNA 6887 Neighboring gene leucine rich repeat LGI family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35632134-35632696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35633820-35634380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35634381-35634942 Neighboring gene FXYD domain containing ion transport regulator 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35642007-35642406 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:35643105-35643656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35644606-35645470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14457 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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC44983

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables sodium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sodium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transmembrane transporter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of protein glutathionylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of heart contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of sodium ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of sodium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    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_001278717.2NP_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)
      AC020907, BC032800, BM691130, HY151827
      Consensus CDS
      CCDS12445.1
      UniProtKB/Swiss-Prot
      A8K196, O00168
      Related
      ENSP00000481244.1, ENST00000612146.4
      Conserved Domains (1) summary
      cd20317
      Location:2386
      FXYD1; FXYD domain-containing ion transport regulator 1
    2. NM_001278718.2NP_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)
      AC020907, BC032800, BM691130, HY111815
      Consensus CDS
      CCDS12445.1
      UniProtKB/Swiss-Prot
      A8K196, O00168
      Related
      ENSP00000465289.1, ENST00000588715.5
      Conserved Domains (1) summary
      cd20317
      Location:2386
      FXYD1; FXYD domain-containing ion transport regulator 1
    3. NM_005031.5NP_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)
      AC020907, BM691130, BX115036
      Consensus CDS
      CCDS12445.1
      UniProtKB/Swiss-Prot
      A8K196, O00168
      Related
      ENSP00000393611.1, ENST00000455515.6
      Conserved Domains (1) summary
      cd20317
      Location:2386
      FXYD1; FXYD domain-containing ion transport regulator 1
    4. NM_021902.4NP_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)
      AC020907, BC032800, BM691130, HY151101
      Consensus CDS
      CCDS12445.1
      UniProtKB/Swiss-Prot
      A8K196, O00168
      Related
      ENSP00000343314.3, ENST00000351325.9
      Conserved Domains (1) summary
      cd20317
      Location:2386
      FXYD1; FXYD domain-containing ion transport regulator 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35137188..35143109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026874.3XP_016882363.1  phospholemman isoform X1

      UniProtKB/Swiss-Prot
      A8K196, O00168
      Conserved Domains (1) summary
      cd20317
      Location:2386
      FXYD1; FXYD domain-containing ion transport regulator 1
    2. XM_047438938.1XP_047294894.1  phospholemman isoform X1

      UniProtKB/Swiss-Prot
      A8K196, O00168
      Related
      ENSP00000467727.1, ENST00000588081.5
    3. XM_017026875.3XP_016882364.1  phospholemman isoform X2

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

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      37681906..37687737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321220.1XP_054177195.1  phospholemman isoform X1

      UniProtKB/Swiss-Prot
      A8K196, O00168
    2. XM_054321219.1XP_054177194.1  phospholemman isoform X1

      UniProtKB/Swiss-Prot
      A8K196, O00168
    3. XM_054321221.1XP_054177196.1  phospholemman isoform X2

    4. XM_054321222.1XP_054177197.1  phospholemman isoform X2