Homo sapiens Gene: ATP2C1
Summary
InnateDB Gene IDBG-56432.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATP2C1
Gene Name ATPase, Ca++ transporting, type 2C, member 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000017260
Encoded Proteins
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
ATPase, Ca++ transporting, type 2C, member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:130850595-131016712
Strand Forward strand
Band q22.1
Transcripts
ENST00000328560 ENSP00000329664
ENST00000359644 ENSP00000352665
ENST00000422190 ENSP00000402677
ENST00000428331 ENSP00000395809
ENST00000504381 ENSP00000425320
ENST00000505330 ENSP00000423774
ENST00000507488 ENSP00000421326
ENST00000510168 ENSP00000427461
ENST00000508532 ENSP00000424783
ENST00000513801 ENSP00000422872
ENST00000504948 ENSP00000423330
ENST00000505072 ENSP00000427625
ENST00000509662 ENSP00000426849
ENST00000508297 ENSP00000421261
ENST00000504612 ENSP00000425228
ENST00000513636
ENST00000515854 ENSP00000422890
ENST00000514654
ENST00000504571 ENSP00000422489
ENST00000508660 ENSP00000424930
ENST00000510774
ENST00000507194 ENSP00000427087
ENST00000533801 ENSP00000432956
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0004871 signal transducer activity
GO:0005388 calcium-transporting ATPase activity
GO:0005509 calcium ion binding
GO:0005524 ATP binding
GO:0015410 manganese-transporting ATPase activity
GO:0019829 cation-transporting ATPase activity
GO:0030145 manganese ion binding
GO:0046872 metal ion binding
Biological Process
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0006828 manganese ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0007165 signal transduction
GO:0008152 metabolic process
GO:0008544 epidermis development
GO:0016339 calcium-dependent cell-cell adhesion
GO:0030026 cellular manganese ion homeostasis
GO:0031532 actin cytoskeleton reorganization
GO:0032468 Golgi calcium ion homeostasis
GO:0032472 Golgi calcium ion transport
GO:0034220 ion transmembrane transport
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:0071421 manganese ion transmembrane transport
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Ion transport by P-type ATPases pathway
Ion channel transport pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P98194
TrEMBL D6R9U9 D6RGE9
UniProt Splice Variant
Entrez Gene 27032
UniGene Hs.584884 Hs.713021
RefSeq NM_001199183 NM_001001485 NM_001199185 NM_001199181 NM_001199182 NM_001199180 NM_001199179 NM_001199184 NM_014382 NM_001001486 NM_001001487 XM_005247358 XM_005247354 XM_006713585 XM_005247356 XM_005247355 XM_005247357
HUGO HGNC:13211
OMIM 604384
CCDS CCDS56280 CCDS46913 CCDS75006 CCDS56279 CCDS56278 CCDS46914 CCDS56281 CCDS33856 CCDS46912
HPRD 05089
IMGT
EMBL AB037768 AC055733 AC097105 AF181120 AF181121 AF189723 AF225981 AJ010953 AK001684 AK074692 AK296470 AK299945 AK314342 AY268374 AY268375 BC028139 CH471052
GenPept AAF26295 AAF26296 AAF27813 AAF35375 AAH28139 AAP30008 AAP30009 BAA91835 BAA92585 BAC11142 BAG36984 BAG61775 BAH12365 CAA09425 EAW79218 EAW79219
RNA Seq Atlas 27032