Property Summary

NCBI Gene PubMed Count 72
PubMed Score 694.72
PubTator Score 276.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Disease log2 FC p
astrocytic glioma -1.100 1.2e-02
ependymoma -1.400 4.1e-02
psoriasis 1.200 6.8e-04
osteosarcoma -1.063 1.6e-02
medulloblastoma -1.500 1.1e-05
atypical teratoid / rhabdoid tumor -1.600 1.5e-04
glioblastoma -1.400 2.0e-05
medulloblastoma, large-cell -1.600 2.9e-03
primitive neuroectodermal tumor -1.300 1.7e-04
intraductal papillary-mucinous adenoma (... 1.200 3.7e-02
intraductal papillary-mucinous carcinoma... 1.300 5.3e-03
intraductal papillary-mucinous neoplasm ... 1.500 7.2e-03
active Crohn's disease 1.568 6.5e-03
active ulcerative colitis 1.677 1.9e-02
adult high grade glioma -1.100 1.2e-02
subependymal giant cell astrocytoma 1.063 1.4e-02
nasopharyngeal carcinoma 1.200 4.1e-04
Pick disease -1.100 2.0e-03
acute myeloid leukemia -1.100 4.4e-02
ovarian cancer -2.100 6.4e-07

 OMIM Phenotype (1)

Gene RIF (57)

PMID Text
26782588 Two novel ATP2C1 mutations have been found in two unrelated Chinese patients with Hailey-Hailey disease pedigree.
25837627 Besides the level of functional ATP2C1 protein, levels of other ATPase proteins may influence expressivity of the disease and may also contribute to atypical presentations in three male members of the Hailey Hailey disease family.
25658765 This is the first genetic report of HHD from Lebanon in which we identified three novel mutations in ATP2C1 and shed light on the molecular mechanisms and pathogenesis of HHD by linking stress signals like heat shock to the observed phenotypes
25256005 We speculate that a novel pathogenic mechanism involving SPCA1, p63, and IRF6 may play a role in the skin lesions occurring in HHD.
25179631 The CFL-1-dependent recruitment of actin to SPCA1 following calcium influx is critical for secretory cargo sorting.
24981372 we identified two causative genetic mutations responsible for Hailey-Hailey disease.
24352221 We report sibling cases of Hailey-Hailey disease with novel mutations in the ATP2C1 gene that showed unique and atypical clinical phenotypes mimicking seborrheic dermatitis, pemphigus vulgaris, or pemphigus foliaceus
23474827 Case Report: haploinsufficiency of ATP2C1 mutations is the causative mechanism of Hailey-Hailey disease.
23442470 A novel mutation is identified in ATP2C1 linked to Chinese patients with Hailey-Hailey disease.
23344038 Data suggest that calcium ATPase ATP2C1 gene expression is influenced by an overlapping protein asteroid homolog 1 ASTE1 gene.
22639968 SPCA1 regulates the levels of claudins 1 and 4, but does not affect desmosomal protein levels in keratinocytes.
22607350 we report four novel mutations of the ATP2C1 gene involved in HHD, expanding the repertoire of ATP2C1 mutations underlying HHD.
22543864 Human PMR1 bound to c-Src, was tyrosine phosphorylated, sedimented on polysomes, and catalyzed the selective decay of a PMR1 substrate mRNA. Human PMR1 expression stimulated cell motility.
22124882 genetic polymorphism is associated with Hailey-Hailey disease in Chinese patients
21883398 we report five novel mutations and four recurrent mutations of the ATP2C1 gene in Chinese patients. This further expands the mutation spectrum in Hailey-Hailey Disease.
21571222 The SPCA1 knockdown, like ADF/cofilin1 knockdown, inhibited Ca(2+) uptake into the TGN and caused missorting of secretory cargo.
21187401 analysis of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn2+ efflux and protects against toxicity
20837466 SPCA1 inhibites the processing of IGF1R in MDA-MB-231 cells.
20604898 Correct SPCA1 functioning is crucial to intra-Golgi transport and maintenance of the Golgi ribbon.
20403116 The detection of an ATP2C1 gene mutation in this infant confirmed the diagnosis of Hailey Hailey disease
20363212 SPCA1 is associated with cholesterol-rich domains of HT29 cells, and the cholesterol-rich environment is essential for the functioning of the pump
20237496 Observational study of gene-disease association. (HuGE Navigator)
20236194 Heterogeneous mutations of the ATP2C1 gene cause Hailey-Hailey disease in Hong Kong Chinese.
20226632 Six novel ATP2C1 mutations are identified in Chinese patients with Hailey-Hailey disease.
20055875 two specific novel mutations of the ATP2CL gene were identified two typical Chinese pedigrees with Hailey-Hailey disease
19775426 The PMR1 mediated decrease in PTH mRNA levels involves the PTH mRNA 3' Untranslated Regions, KSRP and the exosome.
19426624 Subsequent genetic testing revealed a deletion in the ATP2C1 gene that led us to conclude that this case of ADCF is probably a variant of familial benign chronic pemphigus (Hailey-Hailey disease).
19144698 Data show that the calcium dependencies of intracellular Ca(2+)-ATPase (SERCA and SPCA) activity are the same in human Alzheimer disease and normal brain but that of plasma membrane Ca(2+)-ATPase (PMCA) is different.
19126050 results indicate that the novel c.2251delGT (p.V751fs) mutation in the ATP2C1 gene is responsible for Hailey-Hailey disease (HHD) in this Chinese family; this study expands the spectrum of ATP2C1 mutations associated with HHD
18709316 Two heterozygous mutations, a novel mutation p.AlaVal and a known mutation p. ARG799x, were identified. One case showed typical phenptype and the other, atypical features of keratotic papules without erosion.
18372165 seven different heterozygous mutations in seven of eight Hailey-Hailey disease patients
18266684 findings suggest that the novel mutation site identified in the ATP2C1 gene and local factors encountered (e.g. friction and heat) may both play important roles in the pathogenesis of Hailey-Hailey disease
18259764 The ATP2C1 gene plays a critical role in the pathogenesis of Hailey-Hailey disease.
18247307 Three mutations in ATP2C1 gene were found that could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.
18211433 There is a novel deletion mutation of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease.
18205868 Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. To date, at least 98 ATP2C1 mutations ha ve been reported worldwide in patients with HHD.
17911984 Eight mutations were found in 8 unrelated families and 1 sporadic case, and these new findings have further improved our understanding of the role of ATP2C1 in HHD.
17503064 identifies novel nonsense and missense mutations in ATP2C1 gene in Chinese patients with Hailey-Hailey disease
16644186 Mutated with a trinucleotide deletion in a case of Hailey-Hailey disease with affective disorder.
16621454 ATP2C1 plays a role in basal keratinocytes to stay in the undifferentiated state, and its reduction causes differentiation and up-localization to suprabasal layers most likely via manganese starvation in the Golgi apparatus of keratinocytes.
16540292 mutations in the ATP2C1 gene may have a role in Hailey-Hailey disease (case report)
16484827 a spectrum of ATP2C1 gene mutations is present in Japanese HHD patients.
16332677 analysis of SPCA1 and SPCA2 isoenzymes by steady-state and transient kinetic analyses
16297192 The high allelic heterogeneity of the ATP2C1 gene was confirmed, which supports the notion that Hailey-Hailey disease is a genetically homogeneous disorder.
16192278 Relative to SERCA1a, the active SPCA1a, SPCA1b, and SPCA1d enzymes displayed extremely high apparent affinities for cytosolic Ca(2+) in activation of the overall ATPase and phosphorylation activities.
15955096 Sp1 and YY1 transactivate human ATP2C1 promoter via cis-enhancing elements and that incomplete upregulation of ATP2C1 transcription contributes to keratinocyte-specific pathogenesis of Hailey-Hailey disease.
15811949 Intracellular Ca(2+) stores and store-dependent [Ca(2+)](i) oscillations in human spermatozoa rely primarily on a thapsigargin/cyclopiazonic acid-insensitive Ca(2+) pump, SPCA1.
15623514 important contributions of the Golgi-localized ATP2C1 protein in homeostatic maintenance throughout the secretory pathway.
15545997 Two copies of mutated ATP2C1 were found in an index case diagnosed with type 2 segmental Hailey-Hailey disease.
15336968 A review of the role of SPCA1 in ion homeostasis in the golgi apparatus and in Hailey-Hailey disease.
15191544 Functional analyses of Hailey Hailey disease-mutant A528P demonstrated a low level of protein expression, despite normal levels of mRNA and correct targeting to the Golgi, suggesting instability or abnormal folding of the mutated hSPCA1 polypeptides
14747290 ATP2C1 (PMR1) plays an important role, which is at least partially nonoverlapping with that of sarco(endo-)plasmic reticulum Ca(2+)-ATPases, in the control of beta-cell Ca(2+) homeostasis and insulin secretion.
14632183 the abnormal Ca2+ signaling seen in Hailey-Hailey disease keratinocytes correlates with decreased protein levels of ATP2C1.
12804581 SPCA1 Ca2+ pump has a role in the Ca2+ accumulation in the Golgi apparatus of HeLa cells
12707275 the crucial role of Asp-742 in the architecture of the SPCA1 ion-binding site and a role of Gly-309 in Mn2+ transport selectivity.
11966689 Hailey-Hailey disease (HHD) is caused by mutations in the ATP2C1 gene.
11841554 failed to yield any clear correlation between the nature of the mutation and clinical features of Hailey-Hailey disease.

AA Sequence

MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGWNEFDISEDEP      1 - 70
LWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQEYRSEKSLEELSKLVPPECH     71 - 140
CVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVDLSIDESSLTGETTPCSKVTAPQPAATNGDL    141 - 210
ASRSNIAFMGTLVRCGKAKGVVIGTGENSEFGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGII    211 - 280
MLVGWLLGKDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSD    281 - 350
KTGTLTKNEMTVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNT    351 - 420
LMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMKGAYEQVIKYC    421 - 490
TTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLGLVGIIDPPRTGVKEAVTTLI    491 - 560
ASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEIDAMDVQQLSQIVPKVAVFYRASPRHKMKIIK    561 - 630
SLQKNGSVVAMTGDGVNDAVALKAADIGVAMGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIK    631 - 700
NFVRFQLSTSIAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSI    701 - 770
LTKNLILKILVSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCS    771 - 840
NRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVERSREKIQKHVS    841 - 910
STSSSFLEV                                                                 911 - 919
//

Text Mined References (77)

PMID Year Title
26782588 2015 Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.
25837627 2015 A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?
25658765 2015 Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease.
25256005 2015 Hailey-Hailey disease: investigation of a possible compensatory SERCA2 up-regulation and analysis of SPCA1, p63, and IRF6 expression.
25179631 2014 Cofilin recruits F-actin to SPCA1 and promotes Ca2+-mediated secretory cargo sorting.
24981372 2015 The ATP2C1 gene in Hailey-Hailey disease patients: one novel deletion and one novel splicing mutation.
24352221 2014 Sibling cases of Hailey-Hailey disease showing atypical clinical features and unique disease course.
23474827 2013 A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease.
23442470 Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease.
23344038 2013 Overlapping ATP2C1 and ASTE1 genes in human genome: implications for SPCA1 expression?
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22639968 2012 Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes.
22607350 2012 Four novel mutations of the ATP2C1 gene in Chinese patients are associated with familial benign chronic pemphigus.
22543864 2012 Identification of the human PMR1 mRNA endonuclease as an alternatively processed product of the gene for peroxidasin-like protein.
22124882 2012 Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.
21883398 2012 Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.
21571222 2011 ADF/cofilin regulates secretory cargo sorting at the TGN via the Ca2+ ATPase SPCA1.
21269460 2011 Initial characterization of the human central proteome.
21187401 2011 Identification of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn2+ efflux and protects against toxicity.
20837466 2010 Golgi 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.
20604898 2010 The SPCA1 Ca2+ pump and intracellular membrane trafficking.
20403116 A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation.
20363212 2010 The secretory pathway Ca(2+)-ATPase 1 is associated with cholesterol-rich microdomains of human colon adenocarcinoma cells.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20236194 2010 Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese.
20226632 2010 Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease.
20055875 2009 Genetic diagnosis of Hailey-Hailey disease in two Chinese families: novel mutations in the ATP2C1 gene.
19946888 2010 Defining the membrane proteome of NK cells.
19775426 2009 KSRP-PMR1-exosome association determines parathyroid hormone mRNA levels and stability in transfected cells.
19426624 Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease.
19144698 2009 Altered Ca2+ dependence of synaptosomal plasma membrane Ca2+-ATPase in human brain affected by Alzheimer's disease.
19126050 2009 A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family.
18709316 2008 Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18372165 2008 Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene.
18266684 2008 Hailey-Hailey disease: a novel mutation of the ATP2C1 gene in a Taiwanese family with divergent clinical presentation.
18259764 2008 Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.
18247307 2008 [Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].
18211433 2008 A novel deletion mutation of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease.
18205868 2008 Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease.
17911984 2007 Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease.
17503064 2007 Two novel mutations of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease.
16644186 2006 Hailey-Hailey disease with affective disorder: report of a case with novel ATP2C1 gene mutation.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16621454 2006 ATP2C1 is specifically localized in the basal layer of normal epidermis and its depletion triggers keratinocyte differentiation.
16540292 2006 Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease.
16484827 2006 Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16332677 2006 Dissection of the functional differences between human secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and 2 isoenzymes by steady-state and transient kinetic analyses.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
16297192 2005 ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.
16192278 2005 Functional comparison between secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and sarcoplasmic reticulum Ca2+-ATPase (SERCA) 1 isoforms by steady-state and transient kinetic analyses.
15955096 2005 Transcriptional regulation of ATP2C1 gene by Sp1 and YY1 and reduced function of its promoter in Hailey-Hailey disease keratinocytes.
15811949 2005 Secretory pathway Ca(2+)-ATPase (SPCA1) Ca(2)+ pumps, not SERCAs, regulate complex [Ca(2+)](i) signals in human spermatozoa.
15623514 2005 Deficiency of ATP2C1, a Golgi ion pump, induces secretory pathway defects in endoplasmic reticulum (ER)-associated degradation and sensitivity to ER stress.
15545997 2004 Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15336968 2004 SPCA1 pumps and Hailey-Hailey disease.
15191544 2004 Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.
15071553 2004 Biology, structure and mechanism of P-type ATPases.
14747290 2004 Role for plasma membrane-related Ca2+-ATPase-1 (ATP2C1) in pancreatic beta-cell Ca2+ homeostasis revealed by RNA silencing.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14632183 2003 Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores.
14632182 2003 Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes.
12810057 2003 Similar Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathway Ca(2+)-ATPase SPCA1.
12804581 2003 The contribution of the SPCA1 Ca2+ pump to the Ca2+ accumulation in the Golgi apparatus of HeLa cells assessed via RNA-mediated interference.
12761501 2003 Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways.
12707275 2003 Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11874499 2002 Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease.
11841554 2002 Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
11741891 2002 Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease.
11124703 2001 Characterization of 16 novel human genes showing high similarity to yeast sequences.
10767338 2000 Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
10718198 2000 Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
10615129 2000 Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
7981684 1994 Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q.