The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provid... See more...

Aliases for ATP2C1 Gene

Aliases for ATP2C1 Gene

  • ATPase Secretory Pathway Ca2+ Transporting 1 2 3 5
  • Calcium-Transporting ATPase Type 2C Member 1 2 3 4
  • ATPase, Ca++ Transporting, Type 2C, Member 1 2 3
  • Secretory Pathway Ca2+/Mn2+ ATPase 1 2 3
  • ATP-Dependent Ca(2+) Pump PMR1 3 4
  • ATPase 2C1 3 4
  • KIAA1347 2 4
  • ATP2C1A 2 3
  • SPCA1 2 3
  • PMR1 2 3
  • Benign Chronic Pemphigus (Hailey-Hailey Disease) 2
  • ATPase, Ca(2+)-Sequestering 3
  • EC 7.2.2.10 4
  • EC 3.6.3.8 51
  • HUSSY-28 3
  • EC 3.6.3 51
  • HSPCA1 3
  • ATP2C1 5
  • PMR1L 4
  • BCPM 3
  • HHD 3

External Ids for ATP2C1 Gene

Previous HGNC Symbols for ATP2C1 Gene

  • BCPM

Previous GeneCards Identifiers for ATP2C1 Gene

  • GC03P127524
  • GC03P131329
  • GC03P131851
  • GC03P131933
  • GC03P131934
  • GC03P132095
  • GC03P130613
  • GC03P127997
  • GC03P130571

Summaries for ATP2C1 Gene

Entrez Gene Summary for ATP2C1 Gene

  • The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for ATP2C1 Gene

ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2C1 include Benign Chronic Pemphigus and Pemphigus. Among its related pathways are CREB Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include calcium ion binding and obsolete signal transducer activity. An important paralog of this gene is ATP2C2.

UniProtKB/Swiss-Prot Summary for ATP2C1 Gene

  • This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.

Gene Wiki entry for ATP2C1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP2C1 Gene

Genomics for ATP2C1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP2C1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP2C1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP2C1

Top Transcription factor binding sites by QIAGEN in the ATP2C1 gene promoter:
  • ATF6
  • CREB
  • IRF-1
  • Sp1

Genomic Locations for ATP2C1 Gene

Genomic Locations for ATP2C1 Gene
chr3:130,850,595-131,016,712
(GRCh38/hg38)
Size:
166,118 bases
Orientation:
Plus strand
chr3:130,569,369-130,735,556
(GRCh37/hg19)
Size:
166,188 bases
Orientation:
Plus strand

Genomic View for ATP2C1 Gene

Genes around ATP2C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2C1 Gene

Proteins for ATP2C1 Gene

  • Protein details for ATP2C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98194-AT2C1_HUMAN
    Recommended name:
    Calcium-transporting ATPase type 2C member 1
    Protein Accession:
    P98194
    Secondary Accessions:
    • B2RAT7
    • B4DSW3
    • B7Z3X9
    • G3XAH8
    • G8JLN9
    • O76005
    • Q86V72
    • Q86V73
    • Q8N6V1
    • Q8NCJ7

    Protein attributes for ATP2C1 Gene

    Size:
    919 amino acids
    Molecular mass:
    100577 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92585.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC11142.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP2C1 Gene

neXtProt entry for ATP2C1 Gene

Selected DME Specific Peptides for ATP2C1 Gene

P98194:
  • PFSSEQKWMAV
  • VVAMTGDGVNDA
  • MILVDDDF
  • FGEVFKMM
  • VARFQKIPN
  • FGEVIVDGDVVHGFYNP
  • MQILWINI
  • NIAFMGTLVR
  • LSQIVPKVAVFYRASPRHKMKIIKSLQKNG
  • ADIGVAMG
  • VSRIVEAGCVCNDAVIRNNTLMGKPTEGALIALAMKMGLD
  • PKTPLQKSMD
  • GVVIGTG
  • PPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRL
  • GDRVPAD
  • QFKNPLI
  • DKTGTLT
  • IVKKLPIVETLGCC
  • RDTTMTFTCFVFFDMFNAL
  • MTGDGVND
  • AEVTGVGYN
  • GLRVLALA
  • PPLQKVFQTE
  • NIKNFVRFQLSTSI
  • PCSKVTAPQPAA
  • QFDDAVSITVAI
  • PLNAMQILW
  • LQADLQNGLNK
  • VTVTLALGV
  • AIPEGLP
  • ENETMIPVLTSK
  • EIIKKVERSREK
  • DESSLTGE
  • TKSVFEIG

Post-translational modifications for ATP2C1 Gene

  • Ubiquitination at Lys229, Lys496, and Lys907
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP2C1 Gene

Gene Families for ATP2C1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ATP2C1 Gene

InterPro:
Blocks:
  • ATPase, E1-E2 type
  • Cation transporting ATPase, C-terminal
  • E1-E2 ATPase-associated region
  • H+-transporting ATPase (proton pump) signature
ProtoNet:

Suggested Antigen Peptide Sequences for ATP2C1 Gene

GenScript: Design optimal peptide antigens:
  • ATP-dependent Ca(2+) pump PMR1 (AT2C1_HUMAN)
  • cDNA FLJ55630, highly similar to Calcium-transporting ATPase type 2C member 1 (EC 3.6.3.8) (B4E2Q0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P98194

UniProtKB/Swiss-Prot:

AT2C1_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
genes like me logo Genes that share domains with ATP2C1: view

Function for ATP2C1 Gene

Molecular function for ATP2C1 Gene

UniProtKB/Swiss-Prot Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10;.
GENATLAS Biochemistry:
ATPase,Ca 2+ transporting,highly expressed in epidermal keratinocytes with two alternatively spliced transcripts,ATPC1a,ATPC1b,homolog to the yeast calcium pump Pmr1,sequestering calcium into the Golgi in yeast

Enzyme Numbers (IUBMB) for ATP2C1 Gene

Phenotypes From GWAS Catalog for ATP2C1 Gene

Gene Ontology (GO) - Molecular Function for ATP2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005388 calcium-transporting ATPase activity IBA,IMP 10615129
GO:0005524 ATP binding IEA --
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA 21873635
GO:0015410 manganese-transporting ATPase activity IBA 21873635
genes like me logo Genes that share ontologies with ATP2C1: view
genes like me logo Genes that share phenotypes with ATP2C1: view

Human Phenotype Ontology for ATP2C1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP2C1 Gene

MGI Knock Outs for ATP2C1:

Animal Model Products

CRISPR Products

miRNA for ATP2C1 Gene

miRTarBase miRNAs that target ATP2C1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2C1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ATP2C1 Gene

Localization for ATP2C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2C1 Gene

Golgi apparatus membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP2C1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005794 Golgi apparatus IEA,IDA 11741891
GO:0005802 trans-Golgi network IDA 14632183
genes like me logo Genes that share ontologies with ATP2C1: view

Pathways & Interactions for ATP2C1 Gene

genes like me logo Genes that share pathways with ATP2C1: view

Pathways by source for ATP2C1 Gene

2 Qiagen pathways for ATP2C1 Gene
  • Intracellular Calcium Signaling
  • IP3 Pathway

SIGNOR curated interactions for ATP2C1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ATP2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IMP 10615129
GO:0006828 manganese ion transport IBA 21873635
GO:0006874 cellular calcium ion homeostasis IMP 10615129
GO:0008544 epidermis development IMP 10615129
genes like me logo Genes that share ontologies with ATP2C1: view

Drugs & Compounds for ATP2C1 Gene

(13) Drugs for ATP2C1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desflurane Approved Pharma Target, inhibitor, antagonist 209
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Isoflurane Approved, Vet_approved Pharma Target, inhibitor, agonist 122
Sevoflurane Approved, Vet_approved Pharma Target, inhibitor, antagonist 736
Methoxyflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor 19

(4) Additional Compounds for ATP2C1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Perfluoroacetic acid
  • Trifluoressigsaeure
  • Trifluoroacetate
76-05-1
genes like me logo Genes that share compounds with ATP2C1: view

Transcripts for ATP2C1 Gene

mRNA/cDNA for ATP2C1 Gene

16 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2C1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2C1 Gene

No ASD Table

Relevant External Links for ATP2C1 Gene

GeneLoc Exon Structure for
ATP2C1

Expression for ATP2C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP2C1 Gene

Protein differential expression in normal tissues from HIPED for ATP2C1 Gene

This gene is overexpressed in Breast (49.5) and Peripheral blood mononuclear cells (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP2C1 Gene



Protein tissue co-expression partners for ATP2C1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP2C1

SOURCE GeneReport for Unigene cluster for ATP2C1 Gene:

Hs.584884

mRNA Expression by UniProt/SwissProt for ATP2C1 Gene:

P98194-AT2C1_HUMAN
Tissue specificity: Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney.

Evidence on tissue expression from TISSUES for ATP2C1 Gene

  • Nervous system(4.9)
  • Blood(4.6)
  • Skin(4.6)
  • Lung(3.5)
  • Kidney(3.3)
  • Intestine(3)
  • Heart(2.8)
  • Spleen(2.8)
  • Muscle(2.8)
  • Lymph node(2.7)
  • Liver(2.7)
  • Stomach(2.6)
  • Bone marrow(2.2)
  • Pancreas(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2C1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
Regions:
Head and neck:
  • head
  • mouth
Limb:
  • nail
General:
  • blood
  • blood vessel
  • hair
  • skin
genes like me logo Genes that share expression patterns with ATP2C1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATP2C1 Gene

Orthologs for ATP2C1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP2C1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP2C1 30 31
  • 99.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP2C1 30 31
  • 94.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP2C1 30 31
  • 94.33 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP2C1 31
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp2c1 30
  • 91.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATP2C1 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp2c1 30 17 31
  • 90.76 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ATP2C1 30 31
  • 83.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP2C1 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp2c1 30
  • 79.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19533 30
Zebrafish
(Danio rerio)
Actinopterygii atp2c1 30 31
  • 71.62 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012115 30
  • 58.53 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta SPoCk 30 31
  • 58.19 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pmr-1 30 31
  • 58.42 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03157g 30
  • 54.93 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 30 31 33
  • 54.12 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL301W 30
  • 53.1 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 62 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmr1 30
  • 56.29 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03292 30
  • 53.89 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11114 30
Species where no ortholog for ATP2C1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP2C1 Gene

ENSEMBL:
Gene Tree for ATP2C1 (if available)
TreeFam:
Gene Tree for ATP2C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP2C1: view image

Paralogs for ATP2C1 Gene

(10) SIMAP similar genes for ATP2C1 Gene using alignment to 11 proteins:

  • AT2C1_HUMAN
  • B4E2Q0_HUMAN
  • D6R9U9_HUMAN
  • D6REJ1_HUMAN
  • D6RGE9_HUMAN
  • D6RHV9_HUMAN
  • E7ERC6_HUMAN
  • H0Y8X9_HUMAN
  • H0Y9S7_HUMAN
  • H0Y9V7_HUMAN
  • H0YAH2_HUMAN
genes like me logo Genes that share paralogs with ATP2C1: view

Variants for ATP2C1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP2C1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
737151 Likely Benign: not provided 130,980,625(+) A/G SYNONYMOUS_VARIANT
783404 Benign: not provided 130,955,015(+) G/A MISSENSE_VARIANT
783405 Benign: not provided 130,959,276(+) A/G SYNONYMOUS_VARIANT
799857 Likely Benign: not provided 130,998,289(+) G/C INTRON_VARIANT
810722 Likely Benign: not provided 130,967,372(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATP2C1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP2C1 Gene

Variant ID Type Subtype PubMed ID
esv2418561 CNV deletion 18987734
esv2562128 CNV deletion 19546169
esv2670135 CNV deletion 23128226
esv3349062 CNV duplication 20981092
esv3569002 CNV loss 25503493
esv3569003 CNV loss 25503493
esv3597776 CNV gain 21293372
nsv1005160 CNV gain 25217958

Variation tolerance for ATP2C1 Gene

Residual Variation Intolerance Score: 7.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP2C1 Gene

Human Gene Mutation Database (HGMD)
ATP2C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2C1 Gene

Disorders for ATP2C1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ATP2C1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
benign chronic pemphigus
  • bcpm
pemphigus
darier-white disease
  • dar
bullous skin disease
  • skin diseases bullous
skin disease
  • genodermatosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT2C1_HUMAN
  • Hailey-Hailey disease (HHD) [MIM:169600]: 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 2 have HHD. {ECO:0000269 PubMed:10615129, ECO:0000269 PubMed:10767338, ECO:0000269 PubMed:11841554, ECO:0000269 PubMed:11874499, ECO:0000269 PubMed:28035777}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ATP2C1

genes like me logo Genes that share disorders with ATP2C1: view

No data available for Genatlas for ATP2C1 Gene

Publications for ATP2C1 Gene

  1. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. (PMID: 10615129) Hu Z … Epstein EH (Nature genetics 2000) 2 3 4 23
  2. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. (PMID: 10767338) Sudbrak R … Monaco AP (Human molecular genetics 2000) 2 3 4 23
  3. Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). (PMID: 12707275) Fairclough RJ … Hovnanian A (The Journal of biological chemistry 2003) 3 4 23
  4. Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. (PMID: 11874499) Yokota K … Shimizu H (The Journal of investigative dermatology 2002) 3 4 23
  5. Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. (PMID: 11841554) Dobson-Stone C … Hovnanian A (The Journal of investigative dermatology 2002) 3 4 23

Products for ATP2C1 Gene

  • Signalway ELISA kits for ATP2C1
  • Signalway Proteins for ATP2C1

Sources for ATP2C1 Gene