ATP1B4 (ATPase Na+/K+ transporting family member beta 4) is a member of the X(+)/potassium ATPases subunit beta family, which is encoded by ATP1B4 gene that has been found in all vertebrate genomes. In placental mammals, the protein lost its ancestral function as a Na, K-ATPase beta-subunit and interacts with the nuclear transcriptional coregulator, involved in the regulation of TGF-beta signaling during muscle development through its interaction with SNW1.
Basic Information of ATP1B4 | |
Protein Name | ATP1B4 |
Gene Name | ATP1B4 |
Aliases | X, K-ATPase subunit beta-m, X/potassium-transporting ATPase subunit beta-m |
Organism | Homo sapiens (Human) |
UniProt ID | Q9UN42 |
Transmembrane Times | 1 |
Length (aa) | 357 |
Sequence | MRRQLRSRRAPSFPYSYRYRLDDPDEANQNYLADEEEEAEEEARVTVVPKSEEEEEEEEKEEEEEEEKEEEEGQGQPTGNAWWQKLQIMSEYLWDPERRMFLARTGQSWSLILLIYFFFYASLAAVITLCMYTLFLTISPYIPTFTERVKPPGVMIRPFAHSLNFNFNVSEPDTWQHYVISLNGFLQGYNDSLQEEMNVDCPPGQYFIQDGNEDEDKKACQFKRSFLKNCSGLEDPTFGYSTGQPCILLKMNRIVGFRPELGDPVKVSCKVQRGDENDIRSISYYPESASFDLRYYPYYGKLTHVNYTSPLVAMHFTDVVKNQAVPVQCQLKGKGVINDVINDRFVGRVIFTLNIET |
In lower vertebrates, such as fish, avian, and amphibian species, the ATP1B4 gene encodes plasma membrane-bound beta-subunits of Na, K-ATPase, which is located in the cell membrane and involved in the transport of sodium (Na+) and potassium (K+) ions. In placental mammals, however, this protein completely lost its ancestral as the beta subunit of Na, K-ATPase, and evolved into a muscle-specific protein of the inner nuclear membrane, regulating gene expression. The highest ATP1B4 expression has been observed in late fetal and early postnatal myocytes, which suggests ATP1B4 may play an essential role in perinatal development. Besides, this protein has been revealed to be associated with several diseases, such as congenital anomalies of kidney and urinary tract 2 as well as thyrotoxic periodic paralysis.
Fig.1 Changes in functional properties of βm-proteins encoded by orthologous vertebrate ATP1B4 genes during evolution. (Pestov, 2007)
This article suggested that orthologous vertebrate ATP1B4 genes represent an instance of gene cooption. ATP1B4 protein is the beta-subunits of Na, K-ATPase located in the plasma membrane fish, amphibian, and avian species, while functions transcriptional regulator in nuclear membrane of perinatal myocytes in placental mammals.
This study concluded the variant in the coding region of the ATP1B4 gene, rs2072452 (c.143T > C), showed no significant differences between Parkinson's disease patients and control subjects for genotypic and allelic distributions.
This investigation firstly revealed that BetaM has molecular mass 5.9kDa and consists of short high-mannose type N-glycans, which indicates its entirely new evolutionarily acquired function.
This article indicated the function of ATP1B4 protein in the development of growing skeletal muscle.
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