Protein Atp2c1

URN	urn:agi-llid:612
Connectivity	51
Name	Atp2c1
Description	ATPase, Ca++ transporting, type 2C, member 1
Notes	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 the calcium. 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]

Pathway	calcium transport pathway
	calcium/calcium-mediated signaling pathway
	calcium-calcium-mediated signaling pathway
	calcium-calcium-mediated signaling pathway

GO Molecular Function	catalytic activity
	signal transducer activity
	nucleotide binding
	hydrolase activity
	ATP binding
	metal ion binding
	magnesium ion binding
	calcium ion binding
	manganese ion binding
	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
	calcium-transporting ATPase activity
	manganese-transporting ATPase activity

GO Biological Process	metabolic process
	transport
	epidermis development
	positive regulation of I-kappaB kinase-NF-kappaB cascade
	calcium-dependent cell-cell adhesion
	ATP biosynthetic process
	cellular manganese ion homeostasis
	cellular calcium ion homeostasis
	Golgi calcium ion homeostasis
	actin cytoskeleton reorganization
	ion transport
	Golgi calcium ion transport
	cation transport
	calcium ion transport
	manganese ion transport

Ariadne Ontology	Me++ homeostasis
	Ca++ ER import

Group	Me++ homeostasis
	Ca++ ER import
	catalytic activity
	metabolic process
	transport
	epidermis development
	positive regulation of I-kappaB kinase-NF-kappaB cascade
	calcium-dependent cell-cell adhesion
	ATP biosynthetic process
	cellular manganese ion homeostasis
	cellular calcium ion homeostasis
	Golgi calcium ion homeostasis
	actin cytoskeleton reorganization
	ion transport
	Golgi calcium ion transport
	cation transport
	calcium ion transport
	manganese ion transport
	signal transducer activity
	nucleotide binding
	hydrolase activity
	ATP binding
	metal ion binding
	magnesium ion binding
	calcium ion binding
	manganese ion binding
	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
	calcium-transporting ATPase activity
	manganese-transporting ATPase activity
	membrane
	plasma membrane
	Golgi apparatus
	trans-Golgi network
	Golgi membrane
	Golgi cisterna membrane
	transport vesicle
	stored secretory granule
	microsome
	integral to membrane

MedScan ID	612

Hugo ID	13211

Human chromosome position	3q22.1

Alias	HHD
	BCPM
	PMR1
	SPCA1
	hSPCA1
	ATP2C1A
	KIAA1347
	HUSSY-28
	calcium-transporting ATPase type 2C member 1
	ATPase 2C1
	ATPase, Ca(2+)-sequestering
	ATP-dependent Ca(2+) pump PMR1
	secretory pathway Ca2+/Mn2+ ATPase 1
	SPCA
	AW061228
	MGC58010
	1700121J11Rik
	D930003G21Rik
	ATPase, Ca++ transporting, type 2C, member 1
	MGC93231
	ATPase, Ca++-sequestering
	calcium-transporting ATPase 2C1
	PMR1L
	mKIAA1347
	1700121J11
	Atp2c I
	Atp2c1
	ATPase 2C I
	ATPase, Ca transporting, type 2C, member 1
	ATPase, Ca transporting, type 2C, member I
	ATPase, Ca(2)-sequestering
	ATPase, Ca++ transporting, type 2C, member I
	ATPase, Ca-sequestering
	ATP-dependent Ca(2) pump
	ATP-dependent Ca(2+) pump
	ATP-dependent Ca2 pump PMR I
	ATP-dependent Ca2 pump PMR1
	ATP-dependent Ca2+ pump PMR I
	ATP-dependent Ca2+ pump PMR1
	Ca++-sequestering ATPase
	calcium-transporting ATPase 2C1 isoform 1a
	Ca-sequestering ATPase
	D930003G21
	Hailey-Hailey disease gene
	PMR I
	secretory pathway Ca2/Mn2 ATPase
	secretory pathway Ca2+/Mn2+ ATPase

OMIM ID	604384
	169600

Mouse chromosome position	9

Rat chromosome position	8q32

EC Number	3.6.3.8

Homologene ID	56672

RGD ID	621311

MGI ID	1889008