• Gene id: 57130

Gene Summary

• Gene Symbol: ATP13A1   Gene   UCSC   Ensembl
• Aliases: ATP13A, CGI-152
• Gene name: ATPase 13A1
• Alternate names: manganese-transporting ATPase 13A1, ATPase type 13A1, cation transporting ATPase, probable cation-transporting ATPase 13A1,
• Gene location: 19p13.11 (19663675: 19645197)     Exons: 26     NC_000019.10
• OMIM: 605248

Protein Summary

• Protein general information: Q9HD20  
  • Name: Manganese transporting ATPase 13A1 (EC 7.2.2. )
  • Length: 1204  
  • Mass: 132955
• Sequence:

  MAAAAAVGNAVPCGARPCGVRPDGQPKPGPQPRALLAAGPALIANGDELVAAVWPYRRLALLRRLTVLPFAGLLY
  PAWLGAAAAGCWGWGSSWVQIPEAALLVLATICLAHALTVLSGHWSVHAHCALTCTPEYDPSKATFVKVVPTPNN
  GSTELVALHRNEGEDGLEVLSFEFQKIKYSYDALEKKQFLPVAFPVGNAFSYYQSNRGFQEDSEIRAAEKKFGSN
  KAEMVVPDFSELFKERATAPFFVFQVFCVGLWCLDEYWYYSVFTLSMLVAFEASLVQQQMRNMSEIRKMGNKPHM
  IQVYRSRKWRPIASDEIVPGDIVSIGRSPQENLVPCDVLLLRGRCIVDEAMLTGESVPQMKEPIEDLSPDRVLDL
  QADSRLHVIFGGTKVVQHIPPQKATTGLKPVDSGCVAYVLRTGFNTSQGKLLRTILFGVKRVTANNLETFIFILF
  LLVFAIAAAAYVWIEGTKDPSRNRYKLFLECTLILTSVVPPELPIELSLAVNTSLIALAKLYMYCTEPFRIPFAG
  KVEVCCFDKTGTLTSDSLVVRGVAGLRDGKEVTPVSSIPVETHRALASCHSLMQLDDGTLVGDPLEKAMLTAVDW
  TLTKDEKVFPRSIKTQGLKIHQRFHFASALKRMSVLASYEKLGSTDLCYIAAVKGAPETLHSMFSQCPPDYHHIH
  TEISREGARVLALGYKELGHLTHQQAREVKREALECSLKFVGFIVVSCPLKADSKAVIREIQNASHRVVMITGDN
  PLTACHVAQELHFIEKAHTLILQPPSEKGRQCEWRSIDGSIVLPLARGSPKALALEYALCLTGDGLAHLQATDPQ
  QLLRLIPHVQVFARVAPKQKEFVITSLKELGYVTLMCGDGTNDVGALKHADVGVALLANAPERVVERRRRPRDSP
  TLSNSGIRATSRTAKQRSGLPPSEEQPTSQRDRLSQVLRDLEDESTPIVKLGDASIAAPFTSKLSSIQCICHVIK
  QGRCTLVTTLQMFKILALNALILAYSQSVLYLEGVKFSDFQATLQGLLLAGCFLFISRSKPLKTLSRERPLPNIF
  NLYTILTVMLQFFVHFLSLVYLYREAQARSPEKQEQFVDLYKEFEPSLVNSTVYIMAMAMQMATFAINYKGPPFM
  ESLPENKPLVWSLAVSLLAIIGLLLGSSPDFNSQFGLVDIPVEFKLVIAQVLLLDFCLALLADRVLQFFLGTPKL
  KVPS

• Structural information:
  • Interpro: IPR023299  IPR018303  IPR023298  IPR008250  IPR036412   IPR023214  IPR006544  IPR001757  
  • Prosite: PS00154
  • STRING: ENSP00000349877
• Other Databases: GeneCards:  ATP13A1  Malacards:  ATP13A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0006812	cation transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0015410	manganese transmembrane transporter activity, phosphorylative mechanism	TAS	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0071421	manganese ion transmembrane transport	IEA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq