Human Gene ATP2C1 (ENST00000513801.5) from GENCODE V44
Description: Homo sapiens ATPase secretory pathway Ca2+ transporting 1 (ATP2C1), transcript variant 15, mRNA. (from RefSeq NM_001378514) RefSeq Summary (NM_001199183): 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]. Gencode Transcript: ENST00000513801.5 Gencode Gene: ENSG00000017260.20 Transcript (Including UTRs) Position: hg38 chr3:130,894,178-131,016,712 Size: 122,535 Total Exon Count: 28 Strand: + Coding Region Position: hg38 chr3:130,930,458-131,016,247 Size: 85,790 Coding Exon Count: 27
ID:AT2C1_HUMAN DESCRIPTION: RecName: Full=Calcium-transporting ATPase type 2C member 1; Short=ATPase 2C1; EC=3.6.3.8; AltName: Full=ATP-dependent Ca(2+) pump PMR1; FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. CATALYTIC ACTIVITY: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney. DISEASE: Defects in ATP2C1 are the cause of Hailey-Hailey disease (HHD) [MIM:169600]; also known as benign familial pemphigus. HHD is an 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. SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. SEQUENCE CAUTION: Sequence=BAA92585.1; Type=Frameshift; Positions=8; Sequence=BAC11142.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP2C1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P98194
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006816 calcium ion transport GO:0006828 manganese ion transport GO:0006874 cellular calcium ion homeostasis GO:0008544 epidermis development GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0030026 cellular manganese ion homeostasis GO:0031532 actin cytoskeleton reorganization GO:0032468 Golgi calcium ion homeostasis GO:0032472 Golgi calcium ion transport GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0070588 calcium ion transmembrane transport GO:0071421 manganese ion transmembrane transport GO:0099132 ATP hydrolysis coupled cation transmembrane transport
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