Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP2C1 Gene

Aliases for ATP2C1 Gene

  • ATPase Secretory Pathway Ca2+ Transporting 1 2 3 5
  • ATPase, Ca++ Transporting, Type 2C, Member 1 2 3
  • Calcium-Transporting ATPase 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
  • Benign Chronic Pemphigus (Hailey-Hailey Disease) 2
  • ATPase, Ca(2+)-Sequestering 3
  • EC 4
  • HUSSY-28 3
  • KIAA1347 4
  • ATP2C1A 3
  • HSPCA1 3
  • SPCA1 3
  • PMR1L 4
  • PMR1 3
  • 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 Darier-White Disease. Among its related pathways are Cardiac conduction 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 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

Additional gene information for ATP2C1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2C1 Gene

Genomics for ATP2C1 Gene

GeneHancer (GH) Regulatory Elements for ATP2C1 Gene

Promoters and enhancers for ATP2C1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J130848 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.1 1122 6.5 PKNOX1 SMAD1 ARNT FEZF1 YBX1 ZNF766 ZNF207 JUNB REST ZNF592 ATP2C1 NEK11 FAM86HP ENSG00000284095
GH03J130892 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.3 +43.9 43929 3.5 HDGF ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF213 ZNF143 ATP2C1 NEK11 ENSG00000252894 GC03M130915 ENSG00000284095
GH03J131380 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.3 +531.0 531038 2.6 HDGF ATF1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B ZNF48 YY1 POLR2B NUDT16 LOC339874 PIK3R4 ATP2C1 MRPL3 ASTE1
GH03J130857 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 14.9 +7.1 7106 0.8 NR2F1 BACH1 ELF1 DPF2 FOXA1 IKZF1 NBN ZNF207 MLLT1 IKZF2 ATP2C1 ENSG00000284095
GH03J130821 Enhancer 1.2 FANTOM5 ENCODE 8.4 -29.2 -29229 0.4 PKNOX1 FEZF1 ATF7 FOS YY2 ZNF518A NFIL3 ATF4 MAFF SMARCA4 ATP2C1 GSTO3P LOC105374107
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ATP2C1 Gene

Genomic Locations for ATP2C1 Gene
166,230 bases
Plus strand
166,188 bases
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:
    Recommended name:
    Calcium-transporting ATPase type 2C member 1
    Protein Accession:
    Secondary Accessions:
    • B2RAT7
    • B4DSW3
    • B7Z3X9
    • G3XAH8
    • G8JLN9
    • O76005
    • Q86V72
    • Q86V73
    • Q8N6V1
    • Q8NCJ7

    Protein attributes for ATP2C1 Gene

    919 amino acids
    Molecular mass:
    100577 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA92585.1; Type=Frameshift; Positions=8; Evidence={ECO:0000305}; Sequence=BAC11142.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP2C1 Gene

neXtProt entry for ATP2C1 Gene

Post-translational modifications for ATP2C1 Gene

  • Ubiquitination at Lys907, posLast=496496, and posLast=229229
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATP2C1 Gene

Domains & Families for ATP2C1 Gene

Gene Families for ATP2C1 Gene

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

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
  • 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:
ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
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

Gene Ontology (GO) - Molecular Function for ATP2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004871 obsolete signal transducer activity HMP --
GO:0005388 calcium-transporting ATPase activity IMP 10615129
GO:0005524 ATP binding IEA --
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA --
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 Phenotypes From GWAS Catalog , 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

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
cytosol 3
nucleus 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

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:0005794 Golgi apparatus IDA,IEA 11741891
GO:0005802 trans-Golgi network IDA 14632183
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane NAS 10615129
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

Interacting Proteins for ATP2C1 Gene

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:0006874 cellular calcium ion homeostasis IMP 10615129
GO:0007165 signal transduction IEA --
GO:0008544 epidermis development IMP 10615129
genes like me logo Genes that share ontologies with ATP2C1: view

No data available for SIGNOR curated interactions for ATP2C1 Gene

Drugs & Compounds for ATP2C1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desflurane Approved Pharma antagonist, Target, inhibitor 161
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Isoflurane Approved, Vet_approved Pharma agonist, Target, inhibitor 178
Sevoflurane Approved, Vet_approved Pharma antagonist, Target, inhibitor 556
calcium Approved Nutra Target, agonist 0

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

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

Transcripts for ATP2C1 Gene

Unigene Clusters for ATP2C1 Gene

ATPase, Ca++ transporting, type 2C, member 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for

Expression for ATP2C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ATP2C1 Gene:


SOURCE GeneReport for Unigene cluster for ATP2C1 Gene:


mRNA Expression by UniProt/SwissProt for ATP2C1 Gene:

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(4.5)
  • Skin(4.5)
  • Lung(3.1)
  • Kidney(2.9)
  • Heart(2.5)
  • Intestine(2.4)
  • Muscle(2.4)
  • Lymph node(2.2)
  • Spleen(2.2)
  • Stomach(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
Head and neck:
  • head
  • mouth
  • nail
  • 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
(Pan troglodytes)
Mammalia ATP2C1 34 33
  • 99.89 (n)
(Canis familiaris)
Mammalia ATP2C1 34 33
  • 94.61 (n)
(Bos Taurus)
Mammalia ATP2C1 34 33
  • 94.33 (n)
(Ornithorhynchus anatinus)
Mammalia ATP2C1 34
  • 93 (a)
(Rattus norvegicus)
Mammalia Atp2c1 33
  • 91.07 (n)
(Monodelphis domestica)
Mammalia ATP2C1 34
  • 91 (a)
(Mus musculus)
Mammalia Atp2c1 16 34 33
  • 90.76 (n)
(Gallus gallus)
Aves ATP2C1 34 33
  • 83.95 (n)
(Anolis carolinensis)
Reptilia ATP2C1 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2c1 33
  • 79.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19533 33
(Danio rerio)
Actinopterygii atp2c1 34 33
  • 71.62 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012115 33
  • 58.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta SPoCk 34 33
  • 58.19 (n)
(Caenorhabditis elegans)
Secernentea pmr-1 34 33
  • 58.42 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03157g 33
  • 54.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 36 34 33
  • 54.12 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL301W 33
  • 53.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
Cin.11114 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmr1 33
  • 56.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03292 33
  • 53.89 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11114 33
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

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

Paralogs for ATP2C1 Gene

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

  • B4E2Q0_HUMAN
  • D6R9U9_HUMAN
  • H0Y8X9_HUMAN
  • H0Y9S7_HUMAN
  • H0Y9V7_HUMAN
genes like me logo Genes that share paralogs with ATP2C1: view

Variants for ATP2C1 Gene

Sequence variations from dbSNP and Humsavar for ATP2C1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1036343964 uncertain-significance, Familial benign pemphigus 131,002,564(+) A/G 3_prime_UTR_variant, intron_variant
rs1054905593 uncertain-significance, Familial benign pemphigus 130,953,815(+) C/T genic_upstream_transcript_variant, intron_variant
rs112703671 benign, Familial benign pemphigus 130,894,790(+) C/A/G/T genic_upstream_transcript_variant, intron_variant
rs114319700 likely-benign, Familial benign pemphigus 130,979,361(+) C/T coding_sequence_variant, synonymous_variant
rs116671177 likely-benign, Familial benign pemphigus 131,002,348(+) C/T 3_prime_UTR_variant, intron_variant

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ATP2C1 Gene

MalaCards: The human disease database

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

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


  • 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 22 58
  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 22 58
  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 22 58
  4. 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 22 58
  5. 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 22 58

Products for ATP2C1 Gene

Sources for ATP2C1 Gene

Loading form....