Endometriosis Knowledgebase

Search Result

Gene id

23439

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

ATP1B4 Gene UCSC Ensembl

Gene name

ATPase Na+/K+ transporting family member beta 4

Alternate names

protein ATP1B4, 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,

Gene location

Xq24 (120362084: 120383248) Exons: 8 NC_000023.11

Gene summary(Entrez)

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]

Protein Summary

Protein general information

Q9UN42

Name: Protein ATP1B4 (X,K ATPase subunit beta m) (X/potassium transporting ATPase subunit beta m)

Length: 357 Mass: 41,598

Tissue specificity: Highly expressed in skeletal muscle and at a lower level in heart. {ECO

Sequence

MRRQLRSRRAPSFPYSYRYRLDDPDEANQNYLADEEEEAEEEARVTVVPKSEEEEEEEEKEEEEEEEKEEEEGQG
QPTGNAWWQKLQIMSEYLWDPERRMFLARTGQSWSLILLIYFFFYASLAAVITLCMYTLFLTISPYIPTFTERVK
PPGVMIRPFAHSLNFNFNVSEPDTWQHYVISLNGFLQGYNDSLQEEMNVDCPPGQYFIQDGNEDEDKKACQFKRS
FLKNCSGLEDPTFGYSTGQPCILLKMNRIVGFRPELGDPVKVSCKVQRGDENDIRSISYYPESASFDLRYYPYYG
KLTHVNYTSPLVAMHFTDVVKNQAVPVQCQLKGKGVINDVINDRFVGRVIFTLNIET

Structural information

Interpro:	IPR000402
Prosite:	PS00390 PS00391
Pfam:	PF00287
DIP:	60961
STRING:	ENSP00000218008;

Other Databases

GeneCards: ATP1B4; Malacards: ATP1B4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000785	chromatin	IEA	cellular_component
GO:0005635	nuclear envelope	TAS	cellular_component
GO:0005637	nuclear inner membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005890	sodium:potassium-exchangi ng ATPase complex	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006810	transport	TAS	biological_process
GO:0015077	monovalent inorganic cati on transmembrane transpor ter activity	TAS	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0015672	monovalent inorganic cati on transport	IDA	biological_process
GO:0000785	chromatin	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005635	nuclear envelope	TAS	cellular_component
GO:0005637	nuclear inner membrane	IEA	cellular_component
GO:0005637	nuclear inner membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005890	sodium:potassium-exchangi ng ATPase complex	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006810	transport	TAS	biological_process
GO:0015077	monovalent inorganic cati on transmembrane transpor ter activity	TAS	molecular_function
GO:0015672	monovalent inorganic cati on transport	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0015672	monovalent inorganic cati on transport	IDA	biological_process
GO:0005635	nuclear envelope	TAS	cellular_component
GO:0005637	nuclear inner membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006810	transport	TAS	biological_process
GO:0015077	monovalent inorganic cati on transmembrane transpor ter activity	TAS	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0015672	monovalent inorganic cati on transport	IDA	biological_process

KEGG pathways

hsa04024  cAMP signaling pathway
hsa04919  Thyroid hormone signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04976  Bile secretion
hsa04918  Thyroid hormone synthesis
hsa04972  Pancreatic secretion
hsa04971  Gastric acid secretion
hsa04960  Aldosterone-regulated sodium reabsorption
hsa04260  Cardiac muscle contraction
hsa04974  Protein digestion and absorption
hsa04970  Salivary secretion
hsa04911  Insulin secretion
hsa04973  Carbohydrate digestion and absorption
hsa04978  Mineral absorption
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa04964  Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Endometriosis	PMID: 25673457
Endometriosis	INFBASE25673457
Thyrotoxic periodic paralysis	PMID: 16430714

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25673457	Endometrio sis			124 (50 patient s with endometr iosis, 34 with benign ovarian neoplasms, 40 h ealthy voluntee rs)			Show abstract