• Gene id: 374868

Gene Summary

• Gene Symbol: ATP9B   Gene   UCSC   Ensembl
• Aliases: ATPASEP, ATPIIB, HUSSY-20, NEO1L, hMMR1
• Gene name: ATPase phospholipid transporting 9B (putative)
• Alternate names: probable phospholipid-transporting ATPase IIB, ATPase type IV, phospholipid transporting (P-type), ATPase, class II, type 9B, macrophage MHC receptor 1,
• Gene location: 18q23 (79069284: 79378390)     Exons: 13     NC_000018.10
• OMIM: 614446

Protein Summary

• Protein general information: O43861  
  • Name: Probable phospholipid transporting ATPase IIB (EC 7.6.2.1) (ATPase class II type 9B)
  • Length: 1147  
  • Mass: 129304
• Sequence:

  MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSRYQLEDESAHLDEMPLMMSEEGFENEESDYHTLPRA
  RIMQRKRGLEWFVCDGWKFLCTSCCGWLINICRRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVL
  YEQFKFFLNLYFLVISCSQFVPALKIGYLYTYWAPLGFVLAVTMTREAIDEFRRFQRDKEVNSQLYSKLTVRGKV
  QVKSSDIQVGDLIIVEKNQRIPSDMVFLRTSEKAGSCFIRTDQLDGETDWKLKVAVSCTQQLPALGDLFSISAYV
  YAQKPQMDIHSFEGTFTREDSDPPIHESLSIENTLWASTIVASGTVIGVVIYTGKETRSVMNTSNPKNKVGLLDL
  ELNRLTKALFLALVALSIVMVTLQGFVGPWYRNLFRFLLLFSYIIPISLRVNLDMGKAVYGWMMMKDENIPGTVV
  RTSTIPEELGRLVYLLTDKTGTLTQNEMIFKRLHLGTVSYGADTMDEIQSHVRDSYSQMQSQAGGNNTGSTPLRK
  AQSSAPKVRKSVSSRIHEAVKAIVLCHNVTPVYESRAGVTEETEFAEADQDFSDENRTYQASSPDEVALVQWTES
  VGLTLVSRDLTSMQLKTPSGQVLSFCILQLFPFTSESKRMGVIVRDESTAEITFYMKGADVAMSPIVQYNDWLEE
  ECGNMAREGLRTLVVAKKALTEEQYQDFESRYTQAKLSMHDRSLKVAAVVESLEREMELLCLTGVEDQLQADVRP
  TLEMLRNAGIKIWMLTGDKLETATCIAKSSHLVSRTQDIHIFRQVTSRGEAHLELNAFRRKHDCALVISGDSLEV
  CLKYYEHEFVELACQCPAVVCCRCSPTQKARIVTLLQQHTGRRTCAIGDGGNDVSMIQAADCGIGIEGKEGKQAS
  LAADFSITQFRHIGRLLMVHGRNSYKRSAALGQFVMHRGLIISTMQAVFSSVFYFASVPLYQGFLMVGYATIYTM
  FPVFSLVLDQDVKPEMAMLYPELYKDLTKGRSLSFKTFLIWVLISIYQGGILMYGALVLFESEFVHVVAISFTAL
  ILTELLMVALTVRTWHWLMVVAEFLSLGCYVSSLAFLNEYFGIGRVSFGAFLDVAFITTVTFLWKVSAITVVSCL
  PLYVLKYLRRKLSPPSYCKLAS

• Structural information:
  • Interpro: IPR030355  IPR023299  IPR018303  IPR023298  IPR008250   IPR036412  IPR023214  IPR006539  IPR032631  IPR001757  IPR032630  
  • Prosite: PS00154
  • STRING: ENSP00000398076
• Other Databases: GeneCards:  ATP9B  Malacards:  ATP9B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IBA	cellular component
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA	biological process
GO:0006897	endocytosis	IBA	biological process
GO:0045332	phospholipid translocation	IBA	biological process
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IBA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0005802	trans-Golgi network	IEA	cellular component
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:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
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:0005794	Golgi apparatus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0045332	phospholipid translocation	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq