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

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; 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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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

Go to the top of the page Help

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 EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

Go to the top of the page Help

Markers

D10S94 (e-PCR)
- UniSTS:147228

D10S94 (e-PCR)
- UniSTS:148839

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

Go to the top of the page Help

Preferred Names: FXYD domain-containing ion transport regulator 4

Names: channel-inducing factor

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

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
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