ATP1B4 - ATPase Na+/K+ transporting family member beta 4 Gene

Homo sapiens

Gene ID: 23439 | Gene type: protein coding

About ATP1B4

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:120,362,089-120,383,237 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues and 4 paralogues. Biased expression in prostate (RPKM 1.2), esophagus (RPKM 0.3) and 1 other tissue.

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]

ATP1B4 Products(2)

mRNA	Protein	Name
NM_001142447.3	NP_001135919.1	protein ATP1B4 isoform A
NM_012069.5	NP_036201.1	protein ATP1B4 isoform B

ATP1B4 Protein Structure

Na_K-ATPase

0
100
200
300
357 a.a.

Protein Preferred Names

Protein Names

protein ATP1B4

ATPase, Na+/K+ transporting, beta 4 polypeptide

Related Diseases

Diseases

Alias

Hyperalphalipoproteinemia 1

Hyperalphalipoproteinemia	HALP1
Cetp Deficiency	Cholesterol-Ester Transfer Protein Deficiency
Familial Hyperalphalipoproteinemia	Cholesteryl Ester Transfer Protein Deficiency
Cept Deficiency	Cholesterol Ester Transfer Protein Deficiency

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis	Lysosomal Beta-Mannosidase Deficiency
Beta-Mannosidase Deficiency	Beta-D-Mannosidosis
Mannosidosis, Beta	MANSB
Lysosomal Beta A Mannosidosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01189	ATP1B4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ATP1B4	VGNC	VGNC:70177
Bos taurus	ATP1B4	VGNC	VGNC:26288
Rattus norvegicus	ATP1B4	RGD	RGD:620994
Canis familiaris	ATP1B4	VGNC	VGNC:38251
Mus musculus	ATP1B4	MGD	MGI:1915071

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