ATP2C1
entrez
27032
canonical
uniprot
P98194
canonical
ensembl
ENSG00000017260
resolver
ensp
ENSP00000329664
resolver
ensp
ENSP00000352665
resolver
ensp
ENSP00000395809
resolver
ensp
ENSP00000402677
resolver
ensp
ENSP00000421326
resolver
ensp
ENSP00000422872
resolver
ensp
ENSP00000423330
resolver
ensp
ENSP00000423774
resolver
ensp
ENSP00000424783
resolver
ensp
ENSP00000425228
resolver
ensp
ENSP00000425320
resolver
ensp
ENSP00000427461
resolver
ensp
ENSP00000432956
resolver
ensp
ENSP00000666773
resolver
ensp
ENSP00000680241
resolver
enst
ENST00000505330
resolver
genesymbol
ATP2C1
resolver
genesymbol_syn
KIAA1347
resolver
genesymbol_syn
PMR1L
resolver
hgnc
HGNC:13211
resolver
uniprot
A0A0A0MTB6
resolver
uniprot
B2RAT7
resolver
uniprot
B4DSW3
resolver
uniprot
B4E295
resolver
uniprot
B4E2Q0
resolver
uniprot
B7Z3X9
resolver
uniprot
G3XAH8
resolver
uniprot
G8JLN9
resolver
uniprot
O76005
resolver
uniprot
Q86V72
resolver
uniprot
Q86V73
resolver
uniprot
Q8N6V1
resolver
uniprot
Q8NCJ7
resolver
uniprot_entry
A0A0A0MTB6_HUMAN
resolver
uniprot_entry
AT2C1_HUMAN
resolver
uniprot_entry
B4E295_HUMAN
resolver
uniprot_entry
B4E2Q0_HUMAN
resolver
uniprot_sec
B2RAT7
resolver
uniprot_sec
B4DSW3
resolver
uniprot_sec
B7Z3X9
resolver
uniprot_sec
G3XAH8
resolver
uniprot_sec
G8JLN9
resolver
uniprot_sec
O76005
resolver
uniprot_sec
Q86V72
resolver
uniprot_sec
Q86V73
resolver
uniprot_sec
Q8N6V1
resolver
uniprot_sec
Q8NCJ7
resolver
amino_acid_sequence
MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGWNEFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQEYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVDLSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRCGKAKGVVIGTGENSEFGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEMTVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNTLMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMKGAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLGLVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEIDAMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVAMGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKILVSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCSNRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVERSREKIQKHVSSTSSSFLEV
uniprot
proteins
disease_involvement
DISEASE: Hailey-Hailey disease (HHD) [MIM:169600]: An autosomal dominant cutaneous disorder characterized by erythema, skin blisters and erosions, and suprabasal acantholysis. Blisters and erosions most often affect the neck, armpits, skin folds, groin and genitals. {ECO:0000269|PubMed:10615129, ECO:0000269|PubMed:10767338, ECO:0000269|PubMed:11841554, ECO:0000269|PubMed:11874499, ECO:0000269|PubMed:12707275, ECO:0000269|PubMed:21187401, ECO:0000269|PubMed:28035777}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.2.2.10
uniprot
proteins
function
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 (PubMed:12707275, PubMed:16192278, PubMed:20439740, PubMed:21187401, PubMed:30923126). 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 (PubMed:16192278, PubMed:16332677, PubMed:30923126). 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 (PubMed:14632183, PubMed:20439740). Responsible for loading the Golgi stores with Ca(2+) ions in keratinocytes, contributing to keratinocyte differentiation and epidermis integrity (PubMed:10615129, PubMed:14632183, PubMed:20439740). Participates in Ca(2+) and Mn(2+) ions uptake into the Golgi store of hippocampal neurons and regulates protein trafficking required for neural polarity (By similarity). May also play a role in the maintenance of Ca(2+) and Mn(2+) homeostasis and signaling in the cytosol while preventing cytotoxicity (PubMed:21187401). {ECO:0000250|UniProtKB:Q80XR2, ECO:0000269|PubMed:10615129, ECO:0000269|PubMed:12707275, ECO:0000269|PubMed:14632183, ECO:0000269|PubMed:16192278, ECO:0000269|PubMed:16332677, ECO:0000269|PubMed:20439740, ECO:0000269|PubMed:21187401, ECO:0000269|PubMed:30923126}.
uniprot
proteins
mass_dalton
100577
uniprot
proteins
mutagenesis
MUTAGEN 39; /note="Q->C: Decreases calcium-dependent autophosphorylation."; /evidence="ECO:0000269|PubMed:30923126"; MUTAGEN 41; /note="D->A: Decreases calcium-dependent autophosphorylation and the ATPase activity; when associated with A-50."; /evidence="ECO:0000269|PubMed:30923126"; MUTAGEN 50; /note="E->A: Decreases calcium-dependent autophosphorylation and the ATPase activity; when associated with A-41."; /evidence="ECO:0000269|PubMed:30923126"; MUTAGEN 50; /note="E->S: Decreases calcium-dependent autophosphorylation."; /evidence="ECO:0000269|PubMed:30923126"; MUTAGEN 350; /note="D->A: Impairs pump activity."; /evidence="ECO:0000269|PubMed:21187401"; MUTAGEN 747; /note="Q->A: Increases manganese transporter activity."; /evidence="ECO:0000269|PubMed:21187401
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IIA subfamily
uniprot
proteins
pubmed
10615129
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
10767338
uniprot
proteins
pubmed
11124703
uniprot
proteins
pubmed
11841554
uniprot
proteins
pubmed
11874499
uniprot
proteins
pubmed
12707275
uniprot
proteins
pubmed
14632183
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15831496
uniprot
proteins
pubmed
16192278
uniprot
proteins
pubmed
16332677
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20439740
uniprot
proteins
pubmed
21187401
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28035777
uniprot
proteins
pubmed
30923126
uniprot
proteins
sequence_length
919
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:12707275, ECO:0000269|PubMed:14632183, ECO:0000269|PubMed:21187401}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:21187401}; Multi-pass membrane protein {ECO:0000255}. Note=During neuron differentiation, shifts from juxtanuclear Golgi position to multiple Golgi structures distributed over the neural soma with a predominance in the apical dendritic trunk. {ECO:0000250|UniProtKB:Q80XR2}.
uniprot
proteins
transmembrane_region
TRANSMEM 71..91; /note="Helical; Name=1"; /evidence="ECO:0000250"; TRANSMEM 105..123; /note="Helical; Name=2"; /evidence="ECO:0000250"; TRANSMEM 263..282; /note="Helical; Name=3"; /evidence="ECO:0000250"; TRANSMEM 295..312; /note="Helical; Name=4"; /evidence="ECO:0000250"; TRANSMEM 700..719; /note="Helical; Name=5"; /evidence="ECO:0000250"; TRANSMEM 730..750; /note="Helical; Name=6"; /evidence="ECO:0000250"; TRANSMEM 771..793; /note="Helical; Name=7"; /evidence="ECO:0000250"; TRANSMEM 809..828; /note="Helical; Name=8"; /evidence="ECO:0000250"; TRANSMEM 842..860; /note="Helical; Name=9"; /evidence="ECO:0000250"; TRANSMEM 876..896; /note="Helical; Name=10"; /evidence="ECO:0000250
uniprot
proteins