ATP2C1 Gene
protein-coding GIFtS: 64
GCID: GC03P130613
|
|
ATPase, Ca++ transporting, type 2C, member 1(Previous name: benign chronic pemphigus (Hailey-Hailey disease) )
(Previous symbol: BCPM)
| |
Aliases
for ATP2C1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATPase, Ca++ Transporting, Type 2C, Member 11 2 | | HHD2 5 | | BCPM1 2 5 | | Benign Chronic Pemphigus (Hailey-Hailey Disease)1 | | ATP2C1A1 2 | | HUSSY-282 | | PMR11 2 | | ATPase, Ca(2+)-Sequestering2 | | SPCA11 2 | | Calcium-Transporting ATPase Type 2C Member 12 | | KIAA13471 3 | | HSPCA11 | | ATP-Dependent Ca(2+) Pump PMR12 3 | | Secretory Pathway Ca2+/Mn2+ ATPase 12 | | ATPase 2C12 3 | | PMR1L3 | | EC 3.6.3.83 8 | | EC 3.6.38 |
Export aliases for ATP2C1 gene to outside databasesPrevious GC identifers: GC03P127524 GC03P131329 GC03P131851 GC03P131933 GC03P131934 GC03P132095 GC03P127997 |
Summaries
for ATP2C1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ATP2C1:
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependentenzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene causeHailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding differentisoforms have been identified. (provided by RefSeq, Aug 2011)
UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium
Gene Wiki entry for ATP2C1
|
Genomic Views
for ATP2C1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATP2C1 gene promoter:
CREB Sp1 IRF-1 ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATP2C1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2C1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q22.1 Ensembl cytogenetic band: 3q22.1 HGNC cytogenetic band: 3q21.3ATP2C1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P130613: view genomic region
(about GC identifiers)
Start:
|
130,569,439 bp from pter |
End:
|
130,735,556 bp from pter |
Size:
|
166,118 bases |
Orientation:
|
plus strand |
|
Proteins
for ATP2C1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194 (See
protein sequence)Recommended Name: Calcium-transporting ATPase type 2C member 1 Size: 919 amino acids; 100577 Da
Subcellular location: Golgi apparatus membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAA92585.1; Type=Frameshift; Positions=8; Sequence=BAC11142.1; Type=Erroneous initiation;
Secondary accessions: B2RAT7 B4DSW3 B7Z3X9 G3XAH8 G8JLN9 O76005 Q86V72 Q86V73 Q8N6V1 Q8NCJ7Alternative splicing: 8 isoforms: P98194-1 P98194-2 P98194-3 P98194-4 P98194-5 P98194-6 P98194-7 P98194-8 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ATP2C1: NX_P98194
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P98194
4/34 DME Specific Peptides for ATP2C1 (P98194) (see all 34)
ATP2C1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (11 alternative transcripts):
NP_001001485.1 NP_001001486.1 NP_001001487.1 NP_001186108.1 NP_001186109.1 NP_001186110.1 NP_001186111.1 NP_001186112.1 NP_001186113.1 NP_001186114.1 NP_055197.2
ENSEMBL proteins: ENSP00000423774 ENSP00000425320 ENSP00000421326 ENSP00000427461 ENSP00000424783 ENSP00000423330 ENSP00000422872 ENSP00000427625 ENSP00000426849 ENSP00000329664 ENSP00000395809 ENSP00000352665 ENSP00000402677 ENSP00000421261 ENSP00000425228 ENSP00000422890 ENSP00000422489 ENSP00000424930 ENSP00000427087 ENSP00000376914 ENSP00000432956 Reactome Protein details: P98194
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ATP2C1 for ontologies About GeneDecksing
ATP2C1 Antibody Products:
Assay Products for ATP2C1: |
Protein
Domains /
Families
for ATP2C1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATP2C1 for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry P98194ProtoNet protein and cluster: P98194 4 Blocks protein families: IPB000695 H+-transporting ATPase (proton pump) signature IPB001757 ATPase IPB006068 Cation transporting ATPase IPB008250 E1-E2 ATPase-associated region
UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily |
Function
for ATP2C1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calciumCatalytic activity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2) Genatlas biochemistry entry for ATP2C1:ATPase,Ca 2+ transporting,highly expressed in epidermal keratinocytes with two alternatively splicedtranscripts,ATPC1a,ATPC1b,homolog to the yeast calcium pump Pmr1,sequestering calcium into the Golgi in yeast
Enzyme Numbers (IUBMB): EC 3.6.3.81 2 EC 3.6.32
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP2C1 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP2C1 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 11): ATP2C1 (NM_014382) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP2C1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP2C1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2C1 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
ATP2C1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for ATP2C1:
Animal Models:
Mouse knock-out Atp2c1tm1Ges for ATP2C1
8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Atp2c1):
ATP2C1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ATP2C1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Ion channel transport | | | 2 | CREB Pathway | | | 3 | calcium transport I | | | 4 | SLC-mediated transmembrane transport | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP2C1
1  BioSystems Pathway for ATP2C1
3 
Reactome Pathways for ATP2C1
ATP2C1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP2C1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 15)
5/153 Interacting proteins for ATP2C1 (P981943 ENSP000003526654) via UniProtKB, MINT, STRING, and/or I2D (see all 153)About this table
Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table
ATP2C1 for ontologies About GeneDecksing
|
Drugs & Compounds
for ATP2C1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ATP2C1 for compounds About GeneDecksing
 Browse Tocris compounds for ATP2C1
6 HMDB Compounds for ATP2C1 About this table
7 DrugBank Compounds for ATP2C1 About this table
6 Novoseek chemical compound relationships for ATP2C1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| aequorin |
46.2 |
2 |
14747290 (1), 14632183 (1) |
| calcium |
43.4 |
51 |
16143464 (4), 14632183 (4), 15840101 (4), 16467572 (3) (see all 20) |
| manganese |
42.3 |
15 |
15670846 (4), 12707275 (3), 16621454 (2), 16823889 (1) (see all 6) |
| tacrolimus |
20.6 |
2 |
15888147 (1) |
| tyrosine |
0 |
15 |
15375158 (3), 18045990 (2), 17349962 (2), 16982678 (1) |
| estrogen |
0 |
4 |
11222765 (2), 15375158 (1) |
Search CenterWatch for drugs/clinical trials and news about ATP2C1 / AT2C1
|
Transcripts
for ATP2C1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATP2C1 gene (11 alternative transcripts): NM_001001485.2 NM_001001486.1 NM_001001487.1 NM_001199179.1 NM_001199180.1 NM_001199181.1 NM_001199182.1 NM_001199183.1 NM_001199184.1 NM_001199185.1 NM_014382.3 Unigene Cluster for ATP2C1: ATPase, Ca++ transporting, type 2C, member 1 Hs.584884 [show with all ESTs]Unigene Representative Sequence: NM_00119917918/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24): ENST00000505330(uc011blg.2) ENST00000504381(uc011blh.2) ENST00000507488(uc011bli.2)
ENST00000510168 ENST00000508532(uc003enk.3 uc003enl.3) ENST00000504948
ENST00000513801(uc003enm.3 uc003enn.3) ENST00000505072 ENST00000509662
ENST00000328560(uc003enp.3) ENST00000428331(uc003eno.3) ENST00000359644(uc003ens.3)
ENST00000422190(uc003ent.3) ENST00000508297 ENST00000504612 ENST00000513636
ENST00000515854 ENST00000514654(uc003enu.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP2C1 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP2C1 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 11): ATP2C1 (NM_014382) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP2C1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP2C1 |
Additional cDNA sequence: AB037768.1 AB209265.1 AF181120.1 AF181121.1 AF189723.2 AF225981.1 AJ010953.1 AK001684.1 AK074692.1 AK296470.1 AK299945.1 AK304175.1 AK304374.1 AK314342.1 AY268374.1 AY268375.1 BC028139.1 24/25 DOTS entries (see all 25): DT.100673027 DT.92015882 DT.92446994 DT.100684990 DT.91879107 DT.100673024 DT.446326 DT.97808750 DT.102834165 DT.97770002 DT.75140096 DT.92446986 DT.120871858 DT.120871844 DT.95323589 DT.95334184 DT.120871912 DT.100668801 DT.120871957 DT.92446981 DT.120871843 DT.120871872 DT.91742802 DT.92446990 24/379 AceView cDNA sequences (see all 379): BF589126 AI990246 NM_001001485 AA635589 BC028139 AA860672 AW514315 AI685731 CB144502 CB161528 BM718330 BM692886 AY268374 NM_014382 BI907547 BG169253 AI811275 NM_001001487 NM_001001486 CR620213 AI005269 AA401315 CD367263 AA883675
GeneLoc Exon Structure
|
Expression
for ATP2C1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATP2C1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCTATCATT
About this image
See ATP2C1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP2C1
SOURCE GeneReport for Unigene cluster: Hs.584884
UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194Tissue specificity: Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytesand kidney
SABiosciences Expression via Pathway-Focused PCR Array including ATP2C1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP2C1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2C1 |
Orthologs
for ATP2C1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for ATP2C1 gene from 7/31 species (see all 31) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ATP2C11 |
ATPase, Ca++ transporting, type 2C, member 1 |
84.07(n)
92.27(a) |
|
428450 XM_426010.3 XP_426010.3 |
lizard
(Anolis carolinensis) |
Reptilia |
ATP2C16 |
-- |
88(a) |
1 ↔ 1 |
6(37161004-37222519) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.195332 |
Xenopus laevis transcribed sequence with strong similarity more |
79.35(n) |
|
CA789806.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
LOC5595741 |
similar to Calcium-transporting ATPase type 2C, member more |
72.3(n)
83.31(a) |
|
559574 XM_003200239.1 XP_003200287.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
SPoCk1 |
Secretory Pathway Calcium atpase |
58.19(n)
62.93(a) |
|
40495 NM_168961.3 NP_730742.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
pmr-11 |
Protein PMR-1 |
58.46(n)
59.25(a) |
|
173176 NM_001026691.2 NP_001021862.1 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
PMR1(YGL167C)4
PMR11 |
High affinity Ca2+/Mn2+ P-type ATPase required for more4
Pmr1p1 |
53.97(n)1
50.61(a)1 |
|
7(190468-187616)4
8527091, 4 NP_011348.11, 4 |
ENSEMBL Gene Tree for ATP2C1 (if available)
TreeFam Gene Tree for ATP2C1 (if available) |
Paralogs
for ATP2C1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATP2C1 gene
- ATP2A32 ATP1A22 ATP2C22 ATP1A42 ATP2A12 ATP4A2 ATP1A32 ATP2A22
- ATP12A2 ATP1A12
11 SIMAP similar genes for ATP2C1 using alignment to 11 protein entries: AT2C1_HUMAN (see all proteins):ATP2C2 DKFZp686I0955 ATP1A4 ATP2A2 ATP1A3 ATP1A2
ATP2A1 ATP1A1 ATP2A3 DKFZp779G2251 DKFZp779O2152
ATP2C1 for paralogs About GeneDecksing
|
Genomic Variants
for ATP2C1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATP2C1 (130569439 - 130735556 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ATP2C1
3 CNVs: 79908 98447 91552
Human Gene Mutation Database (HGMD): ATP2C1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP2C1 |
|
Disorders
/ Diseases
for ATP2C1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATP2C1 for disorders About GeneDecksing
OMIM gene information: 604384
OMIM disorders: 169600
UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194
Defects in ATP2C1 are the cause of Hailey-Hailey disease (HHD) [MIM:169600]; also known as benign familialpemphigus. HHD is an autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation(acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2have HHD
17  diseases for ATP2C1: About MalaCardshailey-hailey disease pemphigus skin conditions skin disease
colon adenocarcinoma hepatitis b adenocarcinoma cervical cancer
alzheimer's disease cervicitis breast cancer hepatitis
pneumonia cholesterol tuberculosis pancreatitis
mycobacterium tuberculosis
4 diseases from the University of Copenhagen DISEASES database for ATP2C1:Hailey-Hailey disease Hypertensive heart disease Lung cancer Keratosis follicularis 3 Novoseek disease relationships for ATP2C1 gene About this table
Human Genome Epidemiology (HuGE) Navigator: ATP2C1 (1 document)
Export disorders for ATP2C1 gene to outside databases
|
Publications
for ATP2C1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ATP2C1 gene, integrated from 9 sources (see all 128):
(articles sorted by number of sources associating them with ATP2C1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. (PubMed id 10767338)1, 2, 3, 9 Sudbrak R....Monaco A.P. (2000)
- Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. (PubMed id 10615129)1, 2, 3, 9 Hu Z.... Epstein E.H. Jr. (2000)
- Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). (PubMed id 12707275)1, 2, 9 Fairclough R.J.... Hovnanian A. (2003)
- Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. (PubMed id 11841554)1, 2, 9 Dobson-Stone C....Hovnanian A. (2002)
- Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. (PubMed id 11874499)1, 2, 9 Yokota K.... Shimizu H. (2002)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (2001)
- 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. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
- ATP2C1 is specifically localized in the basal layer of normal epidermis and its depletion triggers keratinocyte differentiation. (PubMed id 16621454)1, 9 Yoshida M....Suzuki H. (2006)
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External Searches for ATP2C1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ATP2C1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ATP2C1 gene
(According to HUGE)
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Specialized Databases showing ATP2C1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for ATP2C1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP2C1 |
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| Patent Information for ATP2C1 gene:
Search GeneIP for patents involving ATP2C1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ATP2C1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ATP2C1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP2C1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP2C1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ATP2C1 | | OriGene 3'-UTR Clone for ATP2C1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP2C1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP2C1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ATP2C1 | | OriGene Custom Protein Services for ATP2C1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATP2C1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP2C1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2C1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP2C1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP2C1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP2C1 |
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| | | | Search Tocris compounds for ATP2C1 |
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 | | | ATP2C1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2C1 |
|  |  |  | | | | ThermoFisher Antibody for ATP2C1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP2C1 |
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