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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
  • 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
  • EC 3.6.3.8 4 61
  • Benign Chronic Pemphigus (Hailey-Hailey Disease) 2
  • ATPase, Ca(2+)-Sequestering 3
  • HUSSY-28 3
  • KIAA1347 4
  • EC 3.6.3 61
  • 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 Hailey-Hailey Disease and Darier Disease. Among its related pathways are Ion channel transport and CREB Pathway. GO annotations related to this gene include calcium ion binding and 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

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

Genomics for ATP2C1 Gene

Regulatory Elements for ATP2C1 Gene

Enhancers for ATP2C1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F130857 1.4 FANTOM5 Ensembl ENCODE 14.9 +7.2 7176 0.9 IKZF1 NBN ZNF207 MLLT1 ATP2C1 ENSG00000280127
GH03F130821 1.7 FANTOM5 Ensembl ENCODE 8.4 -29.2 -29183 0.6 TBP PKNOX1 INSM2 KLF17 FEZF1 RAD21 ZEB1 RFX5 ZNF366 SMARCC2 ATP2C1 GSTO3P LOC105374107
GH03F130841 1.3 FANTOM5 Ensembl 7.6 -8.9 -8883 0.4 HDGF SCRT2 EED JUNB CREM ATP2C1 LOC105374108 GSTO3P
GH03F130354 1.3 FANTOM5 Ensembl 1.4 -495.9 -495890 0.8 YBX3 PKNOX1 ZBTB2 SMAD5 PBX2 ZNF512 FOXP2 COL6A5 ATP2C1 PIR62051
GH03F130848 1.1 ENCODE 0.8 +1.1 1122 6.5 ATF1 ARNT CREB3L1 WRNIP1 SIN3A FEZF1 YBX1 GATA2 CBX5 JUNB NEK11 FAM86HP ATP2C1 ENSG00000280127
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATP2C1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP2C1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001483553 917 2401 ATF1 ARNT CREB3L1 WRNIP1 SIN3A YBX1 GATA2 CBX5 JUNB NCOA1

Genomic Location for ATP2C1 Gene

Chromosome:
3
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

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; 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

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 Lys 229, Lys 496, and Lys 907
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ATP2C1

Domains & Families for ATP2C1 Gene

Gene Families for ATP2C1 Gene

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

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 IEA --
GO:0004871 signal transducer activity IMP 12761501
GO:0005388 calcium-transporting ATPase activity IMP 10615129
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
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

miRNA for ATP2C1 Gene

miRTarBase miRNAs that target ATP2C1

Clone Products

Flow Cytometry 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
Jensen Localization Image for ATP2C1 Gene COMPARTMENTS Subcellular localization image for ATP2C1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
cytosol 3
nucleus 3
endoplasmic reticulum 2
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 IEA,IDA 11741891
GO:0005802 trans-Golgi network IDA 14632183
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA,IDA 19946888
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:0006810 transport IEA --
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 --
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 143
Enflurane Approved, Vet_approved Pharma Target, inhibitor 2
Isoflurane Approved, Vet_approved Pharma agonist, Target, inhibitor 165
Sevoflurane Approved, Vet_approved Pharma antagonist, Target, inhibitor 479
Methoxyflurane Approved, Vet_approved Pharma Target, inhibitor 4

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1
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:

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of ATP2C1 Gene:

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.
genes like me logo Genes that share expression patterns with ATP2C1: view

Primer Products

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 34 35
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia ATP2C1 34 35
  • 94.61 (n)
cow
(Bos Taurus)
Mammalia ATP2C1 34 35
  • 94.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2C1 35
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2c1 34
  • 91.07 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP2C1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2c1 34 16 35
  • 90.76 (n)
chicken
(Gallus gallus)
Aves ATP2C1 34 35
  • 83.95 (n)
lizard
(Anolis carolinensis)
Reptilia ATP2C1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2c1 34
  • 79.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19533 34
zebrafish
(Danio rerio)
Actinopterygii atp2c1 34 35
  • 71.62 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012115 34
  • 58.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta SPoCk 34 35
  • 58.19 (n)
worm
(Caenorhabditis elegans)
Secernentea pmr-1 34 35
  • 58.42 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03157g 34
  • 54.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 34 35 37
  • 54.12 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL301W 34
  • 53.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 62 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmr1 34
  • 56.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03292 34
  • 53.89 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11114 34
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)

Paralogs for ATP2C1 Gene

Variants for ATP2C1 Gene

Sequence variations from dbSNP and Humsavar for ATP2C1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs137853012 Hailey-Hailey disease (HHD) [MIM:169600], Pathogenic 130,963,981(+) CTGTA(A/G)CAGCA reference, missense
rs137853014 Hailey-Hailey disease (HHD) [MIM:169600], Pathogenic 130,975,387(+) GTACT(G/T)TACTA reference, missense
rs137853015 Hailey-Hailey disease (HHD) [MIM:169600], Pathogenic 130,980,591(+) TCGTC(C/T)GGGAT reference, missense
rs778865612 Hailey-Hailey disease (HHD) [MIM:169600] 130,996,111(+) GAGCA(C/T)GTAAG reference, missense
VAR_008804 Hailey-Hailey disease (HHD) [MIM:169600]

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
hailey-hailey disease
  • benign chronic pemphigus
darier disease
  • darier-white disease
pemphigus
lung mucoepidermoid carcinoma
  • mucoepidermoid carcinoma of lung
skin disease
  • dermatitis due to substances taken internally
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP2C1

Human Genome Epidemiology (HuGE) Navigator
ATP2C1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 E.H. Jr. (Nat. Genet. 2000) 2 3 4 22 64
  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 22 64
  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 R.J. … Hovnanian A. (J. Biol. Chem. 2003) 3 4 22 64
  4. 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 22 64
  5. 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 22 64

Products for ATP2C1 Gene

Sources for ATP2C1 Gene

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