• Gene id: 79895

Gene Summary

• Gene Symbol: ATP8B4   Gene   UCSC   Ensembl
• Aliases: ATPIM
• Gene name: ATPase phospholipid transporting 8B4 (putative)
• Alternate names: probable phospholipid-transporting ATPase IM, ATPase, class I, type 8B, member 4, P4-ATPase flippase complex alpha subunit ATP8B4, potential phospholipid-transporting ATPase IM,
• Gene location: 15q21.2 (50181850: 49858237)     Exons: 49     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by Ref
• OMIM: 609123

Protein Summary

• Protein general information: Q8TF62  
  • Name: Probable phospholipid transporting ATPase IM (EC 7.6.2.1) (ATPase class I type 8B member 4) (P4 ATPase flippase complex alpha subunit ATP8B4)
  • Length: 1192  
  • Mass: 135868
  • Tissue specificity: Ubiquitously expressed at moderate levels.
• Sequence:

  MFCSEKKLREVERIVKANDREYNEKFQYADNRIHTSKYNILTFLPINLFEQFQRVANAYFLCLLILQLIPEISSL
  TWFTTIVPLVLVITMTAVKDATDDYFRHKSDNQVNNRQSEVLINSKLQNEKWMNVKVGDIIKLENNQFVAADLLL
  LSSSEPHGLCYVETAELDGETNLKVRHALSVTSELGADISRLAGFDGIVVCEVPNNKLDKFMGILSWKDSKHSLN
  NEKIILRGCILRNTSWCFGMVIFAGPDTKLMQNSGKTKFKRTSIDRLMNTLVLWIFGFLICLGIILAIGNSIWES
  QTGDQFRTFLFWNEGEKSSVFSGFLTFWSYIIILNTVVPISLYVSVEVIRLGHSYFINWDRKMYYSRKAIPAVAR
  TTTLNEELGQIEYIFSDKTGTLTQNIMTFKRCSINGRIYGEVHDDLDQKTEITQEKEPVDFSVKSQADREFQFFD
  HHLMESIKMGDPKVHEFLRLLALCHTVMSEENSAGELIYQVQSPDEGALVTAARNFGFIFKSRTPETITIEELGT
  LVTYQLLAFLDFNNTRKRMSVIVRNPEGQIKLYSKGADTILFEKLHPSNEVLLSLTSDHLSEFAGEGLRTLAIAY
  RDLDDKYFKEWHKMLEDANAATEERDERIAGLYEEIERDLMLLGATAVEDKLQEGVIETVTSLSLANIKIWVLTG
  DKQETAINIGYACNMLTDDMNDVFVIAGNNAVEVREELRKAKQNLFGQNRNFSNGHVVCEKKQQLELDSIVEETI
  TGDYALIINGHSLAHALESDVKNDLLELACMCKTVICCRVTPLQKAQVVELVKKYRNAVTLAIGDGANDVSMIKS
  AHIGVGISGQEGLQAVLASDYSFAQFRYLQRLLLVHGRWSYFRMCKFLCYFFYKNFAFTLVHFWFGFFCGFSAQT
  VYDQWFITLFNIVYTSLPVLAMGIFDQDVSDQNSVDCPQLYKPGQLNLLFNKRKFFICVLHGIYTSLVLFFIPYG
  AFYNVAGEDGQHIADYQSFAVTMATSLVIVVSVQIALDTSYWTFINHVFIWGSIAIYFSILFTMHSNGIFGIFPN
  QFPFVGNARHSLTQKCIWLVILLTTVASVMPVVAFRFLKVDLYPTLSDQIRRWQKAQKKARPPSSRRPRTRRSSS
  RRSGYAFAHQEGYGELITSGKNMRAKNPPPTSGLEKTHYNSTSWIENLCKKTTDTVSSFSQDKTVKL

• Structural information:
  • Interpro: IPR030348  IPR023299  IPR018303  IPR023298  IPR008250   IPR036412  IPR023214  IPR006539  IPR032631  IPR001757  IPR032630  
  • Prosite: PS00154
  • STRING: ENSP00000284509
• Other Databases: GeneCards:  ATP8B4  Malacards:  ATP8B4

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:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IDA	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:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0005886	plasma membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray