• Gene id: 23250

Gene Summary

• Gene Symbol: ATP11A   Gene   UCSC   Ensembl
• Aliases: ATPIH, ATPIS
• Gene name: ATPase phospholipid transporting 11A
• Alternate names: probable phospholipid-transporting ATPase IH, ATPase, class VI, type 11A, P4-ATPase flippase complex alpha subunit ATP11A, phospholipid-translocating ATPase, potential phospholipid-transporting ATPase IH,
• Gene location: 13q34 (112690033: 112887167)     Exons: 33     NC_000013.11
• Gene summary(Entrez): The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different
• OMIM: 605868

Protein Summary

• Protein general information: P98196  
  • Name: Probable phospholipid transporting ATPase IH (EC 7.6.2.1) (ATPase IS) (ATPase class VI type 11A) (P4 ATPase flippase complex alpha subunit ATP11A)
  • Length: 1134  
  • Mass: 129756
• Sequence:

  MDCSLVRTLVHRYCAGEENWVDSRTIYVGHREPPPGAEAYIPQRYPDNRIVSSKYTFWNFIPKNLFEQFRRVANF
  YFLIIFLVQLIIDTPTSPVTSGLPLFFVITVTAIKQGYEDWLRHKADNAMNQCPVHFIQHGKLVRKQSRKLRVGD
  IVMVKEDETFPCDLIFLSSNRGDGTCHVTTASLDGESSHKTHYAVQDTKGFHTEEDIGGLHATIECEQPQPDLYK
  FVGRINVYSDLNDPVVRPLGSENLLLRGATLKNTEKIFGVAIYTGMETKMALNYQSKSQKRSAVEKSMNAFLIVY
  LCILISKALINTVLKYMWQSEPFRDEPWYNQKTESERQRNLFLKAFTDFLAFMVLFNYIIPVSMYVTVEMQKFLG
  SYFITWDEDMFDEETGEGPLVNTSDLNEELGQVEYIFTDKTGTLTENNMEFKECCIEGHVYVPHVICNGQVLPES
  SGIDMIDSSPSVNGREREELFFRALCLCHTVQVKDDDSVDGPRKSPDGGKSCVYISSSPDEVALVEGVQRLGFTY
  LRLKDNYMEILNRENHIERFELLEILSFDSVRRRMSVIVKSATGEIYLFCKGADSSIFPRVIEGKVDQIRARVER
  NAVEGLRTLCVAYKRLIQEEYEGICKLLQAAKVALQDREKKLAEAYEQIEKDLTLLGATAVEDRLQEKAADTIEA
  LQKAGIKVWVLTGDKMETAAATCYACKLFRRNTQLLELTTKRIEEQSLHDVLFELSKTVLRHSGSLTRDNLSGLS
  ADMQDYGLIIDGAALSLIMKPREDGSSGNYRELFLEICRSCSAVLCCRMAPLQKAQIVKLIKFSKEHPITLAIGD
  GANDVSMILEAHVGIGVIGKEGRQAARNSDYAIPKFKHLKKMLLVHGHFYYIRISELVQYFFYKNVCFIFPQFLY
  QFFCGFSQQTLYDTAYLTLYNISFTSLPILLYSLMEQHVGIDVLKRDPTLYRDVAKNALLRWRVFIYWTLLGLFD
  ALVFFFGAYFVFENTTVTSNGQIFGNWTFGTLVFTVMVFTVTLKLALDTHYWTWINHFVIWGSLLFYVVFSLLWG
  GVIWPFLNYQRMYYVFIQMLSSGPAWLAIVLLVTISLLPDVLKKVLCRQLWPTATERVQTKSQCLSVEQSTIFML
  SQTSSSLSF

• Structural information:
  • Interpro: IPR030361  IPR023299  IPR018303  IPR023298  IPR008250   IPR036412  IPR023214  IPR006539  IPR032631  IPR001757  IPR032630  
  • Prosite: PS00154
  • STRING: ENSP00000420387
• Other Databases: GeneCards:  ATP11A  Malacards:  ATP11A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055037	recycling endosome	IBA	cellular component
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IBA	molecular function
GO:0045332	phospholipid translocation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0015914	phospholipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0045332	phospholipid translocation	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq