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

Gene ID: 53828, updated on 11-Apr-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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Location:
10q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (43371636..43376335)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (44250626..44255324)
105.20220307 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: 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

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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)

Genotypes

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 potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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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