• Gene id: 27032

Gene Summary

• Gene Symbol: ATP2C1   Gene   UCSC   Ensembl
• Aliases: ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1
• Gene name: ATPase secretory pathway Ca2+ transporting 1
• Alternate names: calcium-transporting ATPase type 2C member 1, ATP-dependent Ca(2+) pump PMR1, ATPase 2C1, ATPase, Ca(2+)-sequestering, ATPase, Ca++ transporting, type 2C, member 1, HUSSY-28, secretory pathway Ca2+/Mn2+ ATPase 1,
• Gene location: 3q22.1 (44025323: 44033109)     Exons: 6     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an aut
• OMIM: 604384

Protein Summary

• Protein general information: P98194  
  • Name: Calcium transporting ATPase type 2C member 1 (ATPase 2C1) (EC 7.2.2.10) (ATP dependent Ca(2+) pump PMR1)
  • Length: 919  
  • Mass: 100577
  • Tissue specificity: Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney.
• Sequence:

  MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGWNEFDISEDEPLWKKY
  ISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQEYRSEKSLEELSKLVPPECHCVREGKLEHT
  LARDLVPGDTVCLSVGDRVPADLRLFEAVDLSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRC
  GKAKGVVIGTGENSEFGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVS
  LAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEMTVTHIFTSDGLHAEV
  TGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNTLMGKPTEGALIALAMKMGLDGLQQDYIRKA
  EYPFSSEQKWMAVKCVHRTQQDRPEICFMKGAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVL
  ALASGPELGQLTFLGLVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEID
  AMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVAMGQTGTDVCKEAADM
  ILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLG
  VEPVDKDVIRKPPRNWKDSILTKNLILKILVSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALS
  SRSQTKSVFEIGLCSNRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVER
  SREKIQKHVSSTSSSFLEV

• Structural information:
  • Interpro: IPR030336  IPR006068  IPR004014  IPR023299  IPR018303   IPR023298  IPR008250  IPR036412  IPR023214  IPR006413  IPR001757  
  • Prosite: PS00154
  • STRING: ENSP00000421326
• Other Databases: GeneCards:  ATP2C1  Malacards:  ATP2C1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0071421	manganese ion transmembrane transport	IEA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0006874	cellular calcium ion homeostasis	IDA	biological process
GO:0006816	calcium ion transport	IDA	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IDA	molecular function
GO:0032472	Golgi calcium ion transport	IMP	biological process
GO:0008544	epidermis development	IMP	biological process
GO:0006874	cellular calcium ion homeostasis	IMP	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IMP	molecular function
GO:0032468	Golgi calcium ion homeostasis	IMP	biological process
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IMP	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process
GO:0006816	calcium ion transport	IMP	biological process
GO:0031532	actin cytoskeleton reorganization	IMP	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IBA	molecular function
GO:0000139	Golgi membrane	IBA	cellular component
GO:0015410	manganese transmembrane transporter activity, phosphorylative mechanism	IBA	molecular function
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0070588	calcium ion transmembrane transport	IBA	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:0006828	manganese ion transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Familial benign chronic pemphigus	KEGG:H00844
Familial benign chronic pemphigus	KEGG:H00844
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 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