ATP1B4 ATPase Na+/K+ transporting family member beta 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP1B4provided by HGNC
Official Full Name: ATPase Na+/K+ transporting family member beta 4provided by HGNC
Primary source: HGNC:HGNC:808
See related: Ensembl:ENSG00000101892 MIM:301073; AllianceGenome:HGNC:808
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
Summary: This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Expression: Biased expression in prostate (RPKM 1.2), esophagus (RPKM 0.3) and 1 other tissue See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: Xq24

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (120362089..120383237)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (118737159..118758401)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (119495944..119517092)

Chromosome X - NC_000023.11 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
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?

variant in the coding region of the ATP1B4 gene may play little or no role in the development of PD in Chinese Han population.
Title: Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes.

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

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)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D10S275 (e-PCR)
- UniSTS:147992

D1S1361 (e-PCR)
- UniSTS:149557

AL008940 (e-PCR)
- UniSTS:11860

D10S16 (e-PCR)
- UniSTS:155756

D1S1425 (e-PCR)
- UniSTS:149621

D17S1136 (e-PCR)
- UniSTS:473214

AL021884 (e-PCR)
- UniSTS:9906

NoName (e-PCR)
- UniSTS:484307

DXS1320 (e-PCR)
- UniSTS:99063

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inorganic cation transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in inorganic cation transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nuclear envelope	TAS Traceable Author Statement more info
is_active_in nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: protein ATP1B4

Names: ATPase, Na+/K+ transporting, beta 4 polypeptide; BetaM; Na,K-ATPase beta m-subunit; X,K-ATPase beta-m subunit; x/potassium-transporting ATPase subunit beta-m

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.

Genomic

NG_016773.1 RefSeqGene

Range

5005..26153

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142447.3 → NP_001135919.1 protein ATP1B4 isoform A

See identical proteins and their annotated locations for NP_001135919.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).

Source sequence(s)

AC006962, AF158383, AK309999

Consensus CDS

CCDS48158.1

UniProtKB/Swiss-Prot

Q17RR0, Q9UN41, Q9UN42

UniProtKB/TrEMBL

B7ZKV8

Related

ENSP00000218008.3, ENST00000218008.8

Conserved Domains (1) summary

pfam00287
Location:82 → 351

Na_K-ATPase; Sodium / potassium ATPase beta chain
NM_012069.5 → NP_036201.1 protein ATP1B4 isoform B

See identical proteins and their annotated locations for NP_036201.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site that deletes 12 nts in the 5' coding region, compared to variant 1. This variant encodes isoform B which is 4 aa shorter than isoform A.

Source sequence(s)

AC006962, AF158384, AK309999

Consensus CDS

CCDS14598.1

UniProtKB/TrEMBL

B7ZKV8

Related

ENSP00000355346.3, ENST00000361319.3

Conserved Domains (1) summary

pfam00287
Location:84 → 346

Na_K-ATPase; Sodium / potassium ATPase beta chain