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

Gene ID: 53828, updated on 1-Jun-2020

Summary

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
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

Genomic context

See FXYD4 in Genome Data Viewer
Location:
10q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (43371636..43376335)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (43867092..43871783)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378271 Neighboring gene uncharacterized LOC107984226 Neighboring gene RNA, U6atac small nuclear 11, pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein F Neighboring gene small nucleolar RNA, C/D box 3J

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?

Phenotypes

NHGRI 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.
NHGRI GWA Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
ion channel regulator activity IEA
Inferred from Electronic Annotation
more info
 
potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ion transmembrane transport TAS
Traceable Author Statement
more info
 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
plasma membrane TAS
Traceable Author Statement
more info
 
sodium:potassium-exchanging ATPase complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
FXYD domain-containing ion transport regulator 4
Names
channel-inducing factor

NCBI Reference Sequences (RefSeq)

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_001184963.1NP_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
    Conserved Domains (1) summary
    pfam02038
    Location:2570
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  2. NM_173160.3NP_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
    Related
    ENSP00000473361.1, ENST00000476166.6
    Conserved Domains (1) summary
    pfam02038
    Location:2570
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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