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    FXYD4 FXYD domain containing ion transport regulator 4 [ Homo sapiens (human) ]

    Gene ID: 53828, updated on 27-Dec-2024

    Summary

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    Official Symbol
    FXYD4provided by HGNC
    Official Full Name
    FXYD domain containing ion transport regulator 4provided by HGNC
    Primary source
    HGNC:HGNC:4028
    See related
    Ensembl:ENSG00000150201 MIM:616926; AllianceGenome:HGNC:4028
    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
    CHIF
    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. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]
    Expression
    Restricted expression toward kidney (RPKM 55.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See FXYD4 in Genome Data Viewer
    Location:
    10q11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (43371636..43376335)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (44250626..44255324)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (43867084..43871783)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378271 Neighboring gene RNA, U6atac small nuclear 11, pseudogene Neighboring gene uncharacterized LOC107984226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2325 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43850991-43851698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43857038-43857950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43882175-43882676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43882677-43883176 Neighboring gene heterogeneous nuclear ribonucleoprotein F Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:43890785-43891672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43893449-43894334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3294 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:43897064-43897583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:43903361-43903964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2330 Neighboring gene Sharpr-MPRA regulatory region 12153 Neighboring gene small nucleolar RNA, C/D box 3J

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. FXYD proteins as regulators of the Na,K-ATPase in the kidney. Sweadner KJ, et al. Ann N Y Acad Sci, 2003 Apr. PMID 12763854
    2. A functional interaction between CHIF and Na-K-ATPase: implication for regulation by FXYD proteins. Garty H, et al. Am J Physiol Renal Physiol, 2002 Oct. PMID 12217851
    3. CHIF, a member of the FXYD protein family, is a regulator of Na,K-ATPase distinct from the gamma-subunit. Béguin P, et al. EMBO J, 2001 Aug 1. PMID 11483503, Free PMC Article
    4. Expression and characterization of the FXYD ion transport regulators for NMR structural studies in lipid micelles and lipid bilayers. Crowell KJ, et al. Biochim Biophys Acta, 2003 Jan 31. PMID 12535606, Free PMC Article
    5. Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study. Lee JH, et al. Front Genet, 2013. PMID 24478790, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CHIF can act as tissue-specific modulators of Na-K-ATPase
      Title: A functional interaction between CHIF and Na-K-ATPase: implication for regulation by FXYD proteins.
    2. molecular cloning, protein expression, sequencing and NMR structure determination
      Title: Expression and characterization of the FXYD ion transport regulators for NMR structural studies in lipid micelles and lipid bilayers.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of sodium ion export across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    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
    FXYD domain-containing ion transport regulator 4
    Names
    channel-inducing factor

    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)

    1. NM_001184963.1 → NP_001171892.1  FXYD domain-containing ion transport regulator 4 precursor

      See identical proteins and their annotated locations for NP_001171892.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate splice acceptor site in the 5' UTR, as compared to variant 1. This variant is likely to only be found in individuals with the A allele of SNP rs10899795, which is polymorphic in most populations.
      Source sequence(s)
      AY358584, BC054876
      UniProtKB/Swiss-Prot
      P59646, Q6UWZ1, Q7Z4M5
      Conserved Domains (1) summary
      pfam02038
      Location:25 → 70
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

    2. NM_173160.3 → NP_775183.1  FXYD domain-containing ion transport regulator 4 precursor

      See identical proteins and their annotated locations for NP_775183.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA759244, AL512654, BC054876
      Consensus CDS
      CCDS7203.1
      UniProtKB/Swiss-Prot
      P59646, Q6UWZ1, Q7Z4M5
      Related
      ENSP00000473361.1, ENST00000476166.6
      Conserved Domains (1) summary
      pfam02038
      Location:25 → 70
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      43371636..43376335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      44250626..44255324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59646.2 GenPept UniProtKB/Swiss-Prot:P59646

    Gene LinkOut

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