• Gene id: 148229

Gene Summary

• Gene Symbol: ATP8B3   Gene   UCSC   Ensembl
• Aliases: ATPIK
• Gene name: ATPase phospholipid transporting 8B3
• Alternate names: phospholipid-transporting ATPase IK, ATPase, aminophospholipid transporter, class I, type 8B, member 3, ATPase, class I, type 8B, member 3, aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK, probable phospholipid-transporting ,
• Gene location: 19p13.3 (1812275: 1782067)     Exons: 30     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from on
• OMIM: 605866

Protein Summary

• Protein general information: O60423  
  • Name: Phospholipid transporting ATPase IK (EC 7.6.2.1) (ATPase class I type 8B member 3)
  • Length: 1300  
  • Mass: 146752
  • Tissue specificity: Isoform 3 was only detected in testis. {ECO
• Sequence:

  MGTGPAQTPRSTRAGPEPSPAPPGPGDTGDSDVTQEGSGPAGIRGGETVIRAGMGDSPGRGAPERRHKAQPGRAR
  KYEWRPEGPTSMGSLGQREDLQDEDRNSAFTWKVQANNRAYNGQFKEKVILCWQRKKYKTNVIRTAKYNFYSFLP
  LNLYEQFHRVSNLFFLIIIILQSIPDISTLPWFSLSTPMVCLLFIRATRDLVDDMGRHKSDRAINNRPCQILMGK
  SFKQKKWQDLCVGDVVCLRKDNIVPADMLLLASTEPSSLCYVETVDIDGETNLKFRQALMVTHKELATIKKMASF
  QGTVTCEAPNSRMHHFVGCLEWNDKKYSLDIGNLLLRGCRIRNTDTCYGLVIYAGFDTKIMKNCGKIHLKRTKLD
  LLMNKLVVVIFISVVLVCLVLAFGFGFSVKEFKDHHYYLSGVHGSSVAAESFFVFWSFLILLSVTIPMSMFILSE
  FIYLGNSVFIDWDVQMYYKPQDVPAKARSTSLNDHLGQVEYIFSDKTGTLTQNILTFNKCCISGRVYGPDSEATT
  RPKENPYLWNKFADGKLLFHNAALLHLVRTNGDEAVREFWRLLAICHTVMVRESPRERPDQLLYQAASPDEGALV
  TAARNFGYVFLSRTQDTVTIMELGEERVYQVLAIMDFNSTRKRMSVLVRKPEGAICLYTKGADTVIFERLHRRGA
  MEFATEEALAAFAQETLRTLCLAYREVAEDIYEDWQQRHQEASLLLQNRAQALQQLLGATAIEDRLQDGVPETIK
  CLKKSNIKIWVLTGDKQETAVNIGFACELLSENMLILEEKEISRILETYWENSNNLLTRESLSQVKLALVINGDF
  LDKLLVSLRKEPRALAQNVNMDEAWQELGQSRRDFLYARRLSLLCRRFGLPLAAPPAQDSRARRSSEVLQERAFV
  DLASKCQAVICCRVTPKQKALIVALVKKYHQVVTLAIGDGANDINMIKTADVGVGLAGQEGMQAVQNSDFVLGQF
  CFLQRLLLVHGRWSYVRICKFLRYFFYKSMASMMVQVWFACYNGFTGQPLYEGWFLALFNLLYSTLPVLYIGLFE
  QDVSAEQSLEKPELYVVGQKDELFNYWVFVQAIAHGVTTSLVNFFMTLWISRDTAGPASFSDHQSFAVVVALSCL
  LSITMEVILIIKYWTALCVATILLSLGFYAIMTTTTQSFWLFRVSPTTFPFLYADLSVMSSPSILLVVLLSVSIN
  TFPVLALRVIFPALKELRAKEEKVEEGPSEEIFTMEPLPHVHRESRARRSSYAFSHREGYANLITQGTILRRGPG
  VSSDIASESLDPSDEEAASSPKESQ

• Structural information:
  • Interpro: IPR030349  IPR023299  IPR018303  IPR023298  IPR008250   IPR036412  IPR023214  IPR006539  IPR032631  IPR001757  IPR032630  
  • Prosite: PS00154
  • STRING: ENSP00000311336
• Other Databases: GeneCards:  ATP8B3  Malacards:  ATP8B3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IBA	molecular function
GO:0045332	phospholipid translocation	IBA	biological process
GO:0007030	Golgi organization	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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045332	phospholipid translocation	IEA	biological process
GO:0002080	acrosomal membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R