InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATP2C1

Summary

InnateDB Protein

IDBP-485361.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATP2C1

Protein Name

ATPase, Ca++ transporting, type 2C, member 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000421326

InnateDB Gene

IDBG-56432 (ATP2C1)

Protein Structure

UniProt Annotation

Function

This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.

Subcellular Localization

Golgi apparatus membrane {ECO:0000269PubMed:12707275}; Multi-pass membrane protein {ECO:0000269PubMed:12707275}.

Disease Associations

Hailey-Hailey disease (HHD) [MIM:169600]: Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD. {ECO:0000269PubMed:10615129, ECO:0000269PubMed:10767338, ECO:0000269PubMed:11841554, ECO:0000269PubMed:11874499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001757 Cation-transporting P-type ATPase
IPR004014 Cation-transporting P-type ATPase, N-terminal
IPR006068 Cation-transporting P-type ATPase, C-terminal
IPR006413 Calcium-transporting P-type ATPase, subfamily IIA, PMR1-type
IPR008250 P-type ATPase, A domain
IPR023214 HAD-like domain
IPR023299 P-type ATPase, cytoplasmic domain N

PFAM

PF00690
PF00689
PF00122
PF00702
PF08282
PF13419

PRINTS

PR00119
PR00120

PIRSF

SMART

SM00831

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt