ATP2C1 (ATPase secretory pathway Ca2+ transporting 1)

2017-11-01  

Identity

HGNC
ATP2C1
LOCATION
3q22.1
LOCUSID
27032
ALIAS
ATP2C1A,BCPM,HHD,PMR1,SPCA1,hSPCA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27032
MIM: 604384
HGNC: 13211
Ensembl: ENSG00000017260

Variants:

dbSNP: 27032
ClinVar: 27032
TCGA: ENSG00000017260
COSMIC: ATP2C1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000017260ENST00000328560P98194
ENSG00000017260ENST00000359644P98194
ENSG00000017260ENST00000422190P98194
ENSG00000017260ENST00000428331P98194
ENSG00000017260ENST00000504381P98194
ENSG00000017260ENST00000504571H0Y8X9
ENSG00000017260ENST00000504612H0Y9V7
ENSG00000017260ENST00000504948P98194
ENSG00000017260ENST00000505072D6RHV9
ENSG00000017260ENST00000505330B4E2Q0
ENSG00000017260ENST00000507194H0YAH2
ENSG00000017260ENST00000507488P98194
ENSG00000017260ENST00000508297D6RGE9
ENSG00000017260ENST00000508532P98194
ENSG00000017260ENST00000508660H0Y9S7
ENSG00000017260ENST00000509662D6REJ1
ENSG00000017260ENST00000510168P98194
ENSG00000017260ENST00000513801P98194
ENSG00000017260ENST00000515854D6R9U9
ENSG00000017260ENST00000533801P98194

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
211874012011Identification of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn2+ efflux and protects against toxicity.40
215712222011ADF/cofilin regulates secretory cargo sorting at the TGN via the Ca2+ ATPase SPCA1.34
146321832003Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores.31
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
208374662010Golgi calcium pump secretory pathway calcium ATPase 1 (SPCA1) is a key regulator of insulin-like growth factor receptor (IGF1R) processing in the basal-like breast cancer cell line MDA-MB-231.27
153369682004SPCA1 pumps and Hailey-Hailey disease.22
156235142005Deficiency of ATP2C1, a Golgi ion pump, induces secretory pathway defects in endoplasmic reticulum (ER)-associated degradation and sensitivity to ER stress.21
147472902004Role for plasma membrane-related Ca2+-ATPase-1 (ATP2C1) in pancreatic beta-cell Ca2+ homeostasis revealed by RNA silencing.20
161922782005Functional comparison between secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and sarcoplasmic reticulum Ca2+-ATPase (SERCA) 1 isoforms by steady-state and transient kinetic analyses.20
158119492005Secretory pathway Ca(2+)-ATPase (SPCA1) Ca(2)+ pumps, not SERCAs, regulate complex [Ca(2+)](i) signals in human spermatozoa.17

Citation

Dessen P

ATP2C1 (ATPase secretory pathway Ca2+ transporting 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57232/atp2c1