Rabbit anti-Human ATP2C1 Polyclonal Antibody

Uniprot Id

P98194

Target Species

Human

Target Name

ATP2C1

Target Full Name

Calcium-transporting ATPase type 2C member 1

Target Function

ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway. Within a catalytic cycle, acquires Ca(2+) or Mn(2+) ions on the cytoplasmic side of the membrane and delivers them to the lumenal side. The transfer of ions across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state. Plays a primary role in the maintenance of Ca(2+) homeostasis in the trans-Golgi compartment with a functional impact on Golgi and post-Golgi protein sorting as well as a structural impact on cisternae morphology. Responsible for loading the Golgi stores with Ca(2+) ions in keratinocytes, contributing to keratinocyte differentiation and epidermis integrity. Participates in Ca(2+) and Mn(2+) ions uptake into the Golgi store of hippocampal neurons and regulates protein trafficking required for neural polarity. May also play a role in the maintenance of Ca(2+) and Mn(2+) homeostasis and signaling in the cytosol while preventing cytotoxicity.

Target Involvement

Hailey-Hailey disease (HHD)

Target Subcellular Location

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi-pass membrane protein.

Target Protein Families

Cation transport ATPase (P-type) (TC 3.A.3) family, Type IIA subfamily

Target Tissue Specificity

Found in most tissues except colon, thymus, spleen and leukocytes. Expressed in keratinocytes (at protein level).

Target Synonyms

1700121J11Rik; AT2C1_HUMAN; ATP dependent Ca(2+) pump PMR1; ATP-dependent Ca(2+) pump PMR1; ATP2C1; ATP2C1A; ATPase 2C1; ATPase Ca(2+) sequestering; ATPase Ca++ transporting type 2C member 1; AW061228; BCPM; Calcium transporting ATPase type 2C member 1; Calcium-transporting ATPase type 2C member 1; D930003G21Rik; HHD; hSPCA1; HUSSY 28; KIAA1347; MGC58010; MGC93231; OTTHUMP00000216066; OTTHUMP00000216068; OTTHUMP00000216069; OTTHUMP00000216071; OTTHUMP00000216072; OTTHUMP00000216073; OTTHUMP00000216074; OTTHUMP00000216075; PMR1; PMR1; rat; homolog of; PMR1L; Secretory pathway Ca(2+) ATPase 1; Secretory pathway Ca(2+)-transporting ATPase; Secretory pathway Ca2+/Mn2+ ATPase 1; SPCA; SPCA1

Target Background

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.