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

Aliases for ATP2C1 Gene

Aliases for ATP2C1 Gene

  • 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
  • EC 3.6.3.8 4 64
  • BCPM 3 6
  • HHD 3 6
  • Benign Chronic Pemphigus (Hailey-Hailey Disease) 2
  • ATPase, Ca(2+)-Sequestering 3
  • HUSSY-28 3
  • KIAA1347 4
  • EC 3.6.3 64
  • ATP2C1A 3
  • HSPCA1 3
  • SPCA1 3
  • PMR1L 4
  • PMR1 3

External Ids for ATP2C1 Gene

Previous Symbols for ATP2C1 Gene

  • BCPM

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, Ca++ Transporting, Type 2C, Member 1) is a Protein Coding gene. Diseases associated with ATP2C1 include hailey-hailey disease and pemphigus. Among its related pathways are CREB Pathway and CREB Pathway. GO annotations related to this gene include calcium ion binding and manganese ion binding. An important paralog of this gene is ATP2A2.

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

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

Genomics for ATP2C1 Gene

Genomic Location for ATP2C1 Gene

Start:
130,850,483 bp from pter
End:
131,016,712 bp from pter
Size:
166,230 bases
Orientation:
Plus strand

Genomic View for ATP2C1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP2C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2C1 Gene

Regulatory Elements for ATP2C1 Gene

Transcription factor binding sites by QIAGEN in the ATP2C1 gene promoter:

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; 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

Proteomics data for ATP2C1 Gene at MOPED

Post-translational modifications for ATP2C1 Gene

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

Domains for ATP2C1 Gene

Gene Families for ATP2C1 Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

UniProtKB/Swiss-Prot:

AT2C1_HUMAN
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.:
    • P98194
genes like me logo Genes that share domains with ATP2C1: view

Function for ATP2C1 Gene

Molecular function for ATP2C1 Gene

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
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)
UniProtKB/Swiss-Prot Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium

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 --
GO:0004871 signal transducer activity IMP 12761501
GO:0005388 calcium-transporting ATPase activity IMP 10615129
GO:0005509 calcium ion binding IDA 12707275
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATP2C1: view
genes like me logo Genes that share phenotypes with ATP2C1: view

Animal Models for ATP2C1 Gene

MGI Knock Outs for ATP2C1:

miRNA for ATP2C1 Gene

miRTarBase miRNAs that target ATP2C1

No data available for Transcription Factor Targeting 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
Jensen Localization Image for ATP2C1 Gene COMPARTMENTS Subcellular localization image for ATP2C1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
endoplasmic reticulum 2
cytosol 1
extracellular 1
mitochondrion 1
vacuole 1

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 11741891
GO:0005802 trans-Golgi network IDA 14632183
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane NAS 10615129
genes like me logo Genes that share ontologies with ATP2C1: view

Pathways 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
1 BioSystems pathway for ATP2C1 Gene

Interacting Proteins for ATP2C1 Gene

Selected Interacting proteins: P98194-AT2C1_HUMAN for ATP2C1 Gene via I2D

Gene Ontology (GO) - Biological Process for ATP2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport IMP 10615129
GO:0006828 manganese ion transport IDA 12707275
GO:0006874 cellular calcium ion homeostasis IMP 10615129
GO:0007165 signal transduction IMP 12761501
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ATP2C1: view

Compounds for ATP2C1 Gene

(6) HMDB Compounds for ATP2C1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2

(7) Drugbank Compounds for ATP2C1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Calcium
target agonist
Desflurane
  • Desflurano [INN-Spanish]
57041-67-5 target inhibitor
Enflurane
  • Anesthetic 347
13838-16-9 target inhibitor
Halothane
  • 2-Bromo-2-Chloro-1,1,1-Trifluoroethane
151-67-7 target other/unknown
Isoflurane
26675-46-7 target inhibitor

(6) Novoseek inferred chemical compound relationships for ATP2C1 Gene

Compound -log(P) Hits PubMed IDs
aequorin 46.2 2
calcium 43.4 36
manganese 42.3 12
tacrolimus 20.6 1
tyrosine 0 8
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:

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

No ASD Table

Relevant External Links for ATP2C1 Gene

GeneLoc Exon Structure for
ATP2C1
ECgene alternative splicing isoforms for
ATP2C1

Expression for ATP2C1 Gene

mRNA expression in normal human tissues for ATP2C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ATP2C1 Gene

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

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 36
  • 99.89 (n)
  • 99.89 (a)
ATP2C1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2C1 36
  • 94.33 (n)
  • 98.01 (a)
ATP2C1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2C1 36
  • 94.61 (n)
  • 98.01 (a)
ATP2C1 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2c1 36
  • 90.76 (n)
  • 96.22 (a)
Atp2c1 16
Atp2c1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2C1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2C1 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2c1 36
  • 91.07 (n)
  • 97.06 (a)
chicken
(Gallus gallus)
Aves ATP2C1 36
  • 83.95 (n)
  • 91.94 (a)
ATP2C1 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2C1 37
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19533 36
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2c1 36
  • 79.18 (n)
  • 88.1 (a)
zebrafish
(Danio rerio)
Actinopterygii atp2c1 36
  • 71.62 (n)
  • 82.4 (a)
atp2c1 37
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012115 36
  • 58.53 (n)
  • 64.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta SPoCk 36
  • 58.19 (n)
  • 62.93 (a)
SPoCk 37
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pmr-1 36
  • 58.42 (n)
  • 59.25 (a)
pmr-1 37
  • 53 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL301W 36
  • 53.1 (n)
  • 50.87 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 36
  • 54.12 (n)
  • 50.83 (a)
PMR1 37
  • 48 (a)
OneToMany
PMR1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03157g 36
  • 54.93 (n)
  • 51.28 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03292 36
  • 53.89 (n)
  • 54.21 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmr1 36
  • 56.29 (n)
  • 53.63 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11114 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 62 (a)
OneToMany
Species with no ortholog for ATP2C1:
  • 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)

Paralogs for ATP2C1 Gene

Paralogs for ATP2C1 Gene

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 Sequence Context AA Info Type MAF
rs177951 -- 131,001,063(-) tgcag(G/T)ggcat intron-variant
rs177952 -- 130,956,610(-) ATGAC(A/C)AAAAA intron-variant
rs190067 -- 131,011,520(-) CCTTT(C/G)CAAAA intron-variant
rs218481 -- 131,003,359(-) TTAGA(C/T)ACTAG intron-variant, downstream-variant-500B
rs218482 -- 130,990,622(+) acacg(C/T)gatct intron-variant

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

Variant ID Type Subtype PubMed ID
esv2670135 CNV Deletion 23128226
esv2562128 CNV Deletion 19546169
esv2418561 CNV Deletion 18987734

Relevant External Links for ATP2C1 Gene

HapMap Linkage Disequilibrium report
ATP2C1
Human Gene Mutation Database (HGMD)
ATP2C1

Disorders for ATP2C1 Gene

(1) OMIM Diseases for ATP2C1 Gene (604384)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for ATP2C1 Gene

Disease -log(P) Hits PubMed IDs
hailey-hailey disease 98.7 73
darier disease 85.8 7
skin diseases 71.3 14

Relevant External Links for ATP2C1

Human Genome Epidemiology (HuGE) Navigator
ATP2C1
genes like me logo Genes that share disorders with ATP2C1: view

Publications for ATP2C1 Gene

  1. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. (PMID: 10615129) Hu Z. … Epstein E.H. Jr. (Nat. Genet. 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 A.P. (Hum. Mol. Genet. 2000) 2 3 4 23
  3. Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. (PMID: 11841554) Dobson-Stone C. … Hovnanian A. (J. Invest. Dermatol. 2002) 3 4 23
  4. Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. (PMID: 11874499) Yokota K. … Shimizu H. (J. Invest. Dermatol. 2002) 3 4 23
  5. Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). (PMID: 12707275) Fairclough R.J. … Hovnanian A. (J. Biol. Chem. 2003) 3 4 23

Products for ATP2C1 Gene

Sources for ATP2C1 Gene

Back to Top

Content