Property Summary

NCBI Gene PubMed Count 72
Grant Count 104
R01 Count 82
Funding $13,732,493.18
PubMed Score 694.72
PubTator Score 276.71

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P98194 B2RAT7 B4DSW3 B7Z3X9 G3XAH8 G8JLN9 O76005 Q86V72 Q86V73 Q8N6V1 Q8NCJ7 ATPase 2C1
Symbols HHD
BCPM
PMR1
SPCA1
hSPCA1
ATP2C1A

Gene

PANTHER Protein Class (2)

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.
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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?
More...