2. Gene
  3. ATP2C1 - ATPase secretory pathway Ca2+ transporting 1 Gene

ATP2C1 - ATPase secretory pathway Ca2+ transporting 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A

Gene ID: 27032 | Gene type: protein coding

About ATP2C1

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,850,595-131,016,712 (from NCBI)

This gene has 24 transcripts (splice variants), 222 orthologues, 21 paralogues and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 37.4), brain (RPKM 22.8) and 25 other tissues.

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]

ATP2C1 Products(16)

mRNA Protein Name
NM_001001485.3 NP_001001485.1 calcium-transporting ATPase type 2C member 1 isoform 1c
NM_001001486.2 NP_001001486.1 calcium-transporting ATPase type 2C member 1 isoform 1d
NM_001001487.2 NP_001001487.1 calcium-transporting ATPase type 2C member 1 isoform 1b
NM_001199179.3 NP_001186108.1 calcium-transporting ATPase type 2C member 1 isoform 1a
NM_001199180.2 NP_001186109.1 calcium-transporting ATPase type 2C member 1 isoform 2a
NM_001199181.3 NP_001186110.1 calcium-transporting ATPase type 2C member 1 isoform 2b
NM_001199182.2 NP_001186111.1 calcium-transporting ATPase type 2C member 1 isoform 2c
NM_001199183.2 NP_001186112.1 calcium-transporting ATPase type 2C member 1 isoform 1e
NM_001199184.3 NP_001186113.1 calcium-transporting ATPase type 2C member 1 isoform 1f
NM_001199185.2 NP_001186114.1 calcium-transporting ATPase type 2C member 1 isoform 1c
NM_001378511.1 NP_001365440.1 calcium-transporting ATPase type 2C member 1 isoform 2d
NM_001378512.1 NP_001365441.1 calcium-transporting ATPase type 2C member 1 isoform 1d
NM_001378513.1 NP_001365442.1 calcium-transporting ATPase type 2C member 1 isoform 1b
NM_001378514.1 NP_001365443.1 calcium-transporting ATPase type 2C member 1 isoform 1g
NM_001378687.1 NP_001365616.1 calcium-transporting ATPase type 2C member 1 isoform 1a
NM_014382.5 NP_055197.2 calcium-transporting ATPase type 2C member 1 isoform 1a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ATP binding IDA
IDA: Inferred from direct assay
12707275 GOA
NOT enables P-type calcium transporter activity IDA
IDA: Inferred from direct assay
16192278 GOA
enables P-type calcium transporter activity IDA
IDA: Inferred from direct assay
12707275 GOA
enables P-type calcium transporter activity IMP
IMP: Inferred from mutant phenotype
10615129 GOA
enables P-type manganese transporter activity IDA
IDA: Inferred from direct assay
21187401 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
12707275 GOA
enables manganese ion binding IDA
IDA: Inferred from direct assay
12707275 GOA
Biological Process GO Annotation Evidence Reference Source
involved in Golgi calcium ion homeostasis IMP
IMP: Inferred from mutant phenotype
14632183 GOA
involved in Golgi calcium ion transport IMP
IMP: Inferred from mutant phenotype
14632183 GOA
involved in actin cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
14632182 GOA
involved in calcium ion transport IDA
IDA: Inferred from direct assay
12707275 GOA
involved in calcium ion transport IMP
IMP: Inferred from mutant phenotype
10615129 GOA
involved in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IMP
IMP: Inferred from mutant phenotype
14632182 GOA
involved in epidermis development IMP
IMP: Inferred from mutant phenotype
10615129 GOA
involved in intracellular calcium ion homeostasis IDA
IDA: Inferred from direct assay
12707275 GOA
involved in intracellular calcium ion homeostasis IMP
IMP: Inferred from mutant phenotype
10615129 GOA
involved in intracellular manganese ion homeostasis IDA
IDA: Inferred from direct assay
12707275 GOA
involved in manganese ion transport IDA
IDA: Inferred from direct assay
12707275 GOA
involved in positive regulation of Golgi to plasma membrane protein transport IMP
IMP: Inferred from mutant phenotype
20439740 GOA
involved in trans-Golgi network membrane organization IMP
IMP: Inferred from mutant phenotype
20439740 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
11741891 GOA
located in Golgi membrane IDA
IDA: Inferred from direct assay
12804581 GOA
located in trans-Golgi network IDA
IDA: Inferred from direct assay
14632183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP2C1 Protein Structure

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (27 - 94)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (105 - 340)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (344 - 656)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (726 - 897)

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  • 800
  • 919 a.a.
Protein Preferred Names Protein Names

calcium-transporting ATPase type 2C member 1

ATP-dependent Ca(2+) pump PMR1

Related Diseases

Diseases Alias
Benign Chronic Pemphigus

Hailey-Hailey Disease

Pemphigus, Benign Familial

Familial Benign Pemphigus

Benign Familial Pemphigus

Familial Benign Chronic Pemphigus

BCPM

HHD

Benign Chronic Familial Pemphigus Of Hailey-Hailey

Pemphigus, Chronic, Benign
Pemphigus
Darier-White Disease

Keratosis Follicularis

Darier Disease

Darier'S Disease

DAR

DD

Darier White Disease

Darier Disease Acral Hemorrhagic Type

Darier Disease Segmental

Darier Disease, Acral Hemorrhagic Type

Darier Disease, Segmental
Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders
Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01198 ATP2C1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ATP2C1 RGD RGD:621311
Mus musculus ATP2C1 MGD MGI:1889008
Macaca mulatta ATP2C1 VGNC VGNC:70054
Bos taurus ATP2C1 VGNC VGNC:26296
Felis catus ATP2C1 VGNC VGNC:102604
Canis familiaris ATP2C1 VGNC VGNC:38260