• Gene id: 10396

Gene Summary

• Gene Symbol: ATP8A1   Gene   UCSC   Ensembl
• Aliases: ATPASEII, ATPIA, ATPP2
• Gene name: ATPase phospholipid transporting 8A1
• Alternate names: phospholipid-transporting ATPase IA, ATPase II, ATPase class I type 8A member 1, ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1, P4-ATPase flippase complex alpha subunit ATP8A1, aminophospholipid translocase, chromaffin granule ATPase ,
• Gene location: 4p13 (42657104: 42408372)     Exons: 39     NC_000004.12
• Gene summary(Entrez): The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyz
• OMIM: 609542

SNPs

rs2290870

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.42574403T>C
NC_000004.11   g.42576420T>C|SEQ=[T/C]|GENE=ATP8A1

Protein Summary

• Protein general information: Q9Y2Q0  
  • Name: Phospholipid transporting ATPase IA (EC 7.6.2.1) (ATPase class I type 8A member 1) (Chromaffin granule ATPase II) (P4 ATPase flippase complex alpha subunit ATP8A1)
  • Length: 1164  
  • Mass: 131369
  • Tissue specificity: Found in most adult tissues except liver, testis and placenta. Most abundant in heart, brain and skeletal muscle. Also detected in fetal tissues. Isoform 1 is only detected in brain, skeletal muscle and heart and is the most abundant f
• Sequence:

  MPTMRRTVSEIRSRAEGYEKTDDVSEKTSLADQEEVRTIFINQPQLTKFCNNHVSTAKYNIITFLPRFLYSQFRR
  AANSFFLFIALLQQIPDVSPTGRYTTLVPLLFILAVAAIKEIIEDIKRHKADNAVNKKQTQVLRNGAWEIVHWEK
  VAVGEIVKVTNGEHLPADLISLSSSEPQAMCYIETSNLDGETNLKIRQGLPATSDIKDVDSLMRISGRIECESPN
  RHLYDFVGNIRLDGHGTVPLGADQILLRGAQLRNTQWVHGIVVYTGHDTKLMQNSTSPPLKLSNVERITNVQILI
  LFCILIAMSLVCSVGSAIWNRRHSGKDWYLNLNYGGASNFGLNFLTFIILFNNLIPISLLVTLEVVKFTQAYFIN
  WDLDMHYEPTDTAAMARTSNLNEELGQVKYIFSDKTGTLTCNVMQFKKCTIAGVAYGHVPEPEDYGCSPDEWQNS
  QFGDEKTFSDSSLLENLQNNHPTAPIICEFLTMMAVCHTAVPEREGDKIIYQAASPDEGALVRAAKQLNFVFTGR
  TPDSVIIDSLGQEERYELLNVLEFTSARKRMSVIVRTPSGKLRLYCKGADTVIYDRLAETSKYKEITLKHLEQFA
  TEGLRTLCFAVAEISESDFQEWRAVYQRASTSVQNRLLKLEESYELIEKNLQLLGATAIEDKLQDQVPETIETLM
  KADIKIWILTGDKQETAINIGHSCKLLKKNMGMIVINEGSLDGTRETLSRHCTTLGDALRKENDFALIIDGKTLK
  YALTFGVRQYFLDLALSCKAVICCRVSPLQKSEVVEMVKKQVKVVTLAIGDGANDVSMIQTAHVGVGISGNEGLQ
  AANSSDYSIAQFKYLKNLLMIHGAWNYNRVSKCILYCFYKNIVLYIIEIWFAFVNGFSGQILFERWCIGLYNVMF
  TAMPPLTLGIFERSCRKENMLKYPELYKTSQNALDFNTKVFWVHCLNGLFHSVILFWFPLKALQYGTAFGNGKTS
  DYLLLGNFVYTFVVITVCLKAGLETSYWTWFSHIAIWGSIALWVVFFGIYSSLWPAIPMAPDMSGEAAMLFSSGV
  FWMGLLFIPVASLLLDVVYKVIKRTAFKTLVDEVQELEAKSQDPGAVVLGKSLTERAQLLKNVFKKNHVNLYRSE
  SLQQNLLHGYAFSQDENGIVSQSEVIRAYDTTKQRPDEW

• Structural information:
  • Interpro: IPR023299  IPR018303  IPR023298  IPR008250  IPR036412   IPR023214  IPR006539  IPR032631  IPR001757  IPR032630  
  • Prosite: PS00154
  • STRING: ENSP00000371084
• Other Databases: GeneCards:  ATP8A1  Malacards:  ATP8A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0140327	flippase activity	ISS	molecular function
GO:0022857	transmembrane transporter activity	ISS	molecular function
GO:0016887	ATPase activity	ISS	molecular function
GO:0006869	lipid transport	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0055085	transmembrane transport	ISS	biological process
GO:0005802	trans-Golgi network	IBA	cellular component
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: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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma 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:0016021	integral component of 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:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0007612	learning	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0140327	flippase activity	IEA	molecular function
GO:0061092	positive regulation of phospholipid translocation	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042584	chromaffin granule membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045332	phospholipid translocation	NAS	biological process
GO:0019829	ATPase-coupled cation transmembrane transporter activity	NAS	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329
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
19478329	Azoospermia, Oligozoospermia	rs2290870	Caucasi an	46 cases	Male infertility	GWAS