Tbio ATP2C1 Calcium-transporting ATPase type 2C member 1

Protein Summary

Description

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

Uniprot Accession IDs

• P98194
• B2RAT7
• B4DSW3
• B7Z3X9
• G3XAH8
• G8JLN9
• O76005
• Q86V72
• Q86V73
• Q8N6V1
• Q8NCJ7
• ATPase 2C1

Gene Name

• ATP2C1

Ensembl ID

• ENST00000328560
• ENSP00000329664
• ENSG00000017260
• ENST00000359644
• ENSP00000352665
• ENST00000422190
• ENSP00000402677
• ENST00000428331
• ENSP00000395809
• ENST00000504381
• ENSP00000425320
• ENST00000504948
• ENSP00000423330
• ENST00000507488
• ENSP00000421326
• ENST00000508532
• ENSP00000424783
• ENST00000510168
• ENSP00000427461
• ENST00000513801
• ENSP00000422872
• ENST00000533801
• ENSP00000432956

Symbol

• KIAA1347
• PMR1L
• HHD
• BCPM
• PMR1
• SPCA1
• hSPCA1
• ATP2C1A

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	1
protein domain	0.99
transcription factor perturbation	0.91
cellular component	0.78
transcription factor	0.72

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Calcium-transporting Atpase Type 2c Member 1

Protein / Transporter / Cation Transporter / Calcium-transporting Atpase Type 2c Member 1

Protein / Hydrolase / Calcium-transporting Atpase Type 2c Member 1

DTO Classes

Protein / Transporter / P-type Atpases / Ca2+-atpases / Calcium-transporting Atpase Type 2c Member 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 504.25   (req: < 5)

Gene RIFs: 85   (req: <= 3)

Antibodies: 312   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 504.25   (req: >= 5)

Gene RIFs: 85   (req: > 3)

Antibodies: 312   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0