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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP2C1 Gene

protein-coding   GIFtS: 67
GCID: GC03P130613

ATPase, Ca++ Transporting, Type 2C, Member 1

(Previous name: benign chronic pemphigus (Hailey-Hailey disease))
(Previous symbol: BCPM)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, Ca++ Transporting, Type 2C, Member 11 2     ATP2C1A2
BCPM1 2 5     HUSSY-282
Calcium-Transporting ATPase Type 2C Member 11 2     PMR12
Secretory Pathway Ca2+/Mn2+ ATPase 11 2     SPCA12
ATP-Dependent Ca(2+) Pump PMR12 3     ATPase, Ca(2+)-Sequestering2
ATPase 2C12 3     hSPCA12
EC 3.6.3.83 8     KIAA13473
HHD2 5     PMR1L3
Benign Chronic Pemphigus (Hailey-Hailey Disease)1     EC 3.6.38

External Ids:    HGNC: 132111   Entrez Gene: 270322   Ensembl: ENSG000000172607   OMIM: 6043845   UniProtKB: P981943   

Export aliases for ATP2C1 gene to outside databases

Previous GC identifers: GC03P127524 GC03P131329 GC03P131851 GC03P131933 GC03P131934 GC03P132095 GC03P127997


(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 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, and among its related super-pathways are CREB Pathway and Ion channel transport. GO annotations related to this gene include manganese ion binding and calcium ion binding. An important paralog of this gene is ATP2A3.

UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194
Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the
calcium

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP2C1 gene promoter:
         CREB   Sp1   IRF-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP2C1 promoter sequence
   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: 3q21.3

ATP2C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2C1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P130613:  view genomic region     (about GC identifiers)

Start:
130,569,369 bp from pter      End:
130,735,556 bp from pter
Size:
166,188 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 Q8NCJ7
Alternative 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

Explore proteomics data for ATP2C1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P98194

  • 4/34 DME Specific Peptides for ATP2C1 (P98194) (see all 34)
     GVVIGTG  AIPEGLP  GDRVPAD  QFKNPLI 

    ATP2C1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP2C1 Protein Expression
    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 for ATP2C1: 
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    Novus Biologicals ATP2C1 Proteins
    Novus Biologicals ATP2C1 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATP2C1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus IDA11741891
    GO:0005802trans-Golgi network IDA14632183
    GO:0016021integral to membrane NAS10615129

    ATP2C1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: SPCA1 
    Ca2+-ATPases

    5/9 InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006413 ATPase_P-typ_Ca-transp_PMR1

    Graphical View of Domain Structure for InterPro Entry P98194

    ProtoNet protein and cluster: P98194

    4 Blocks protein domains:
    IPB000695 H+-transporting ATPase (proton pump) signature
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily


    ATP2C1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT2C1_HUMAN, P98194
    Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the
    calcium
    Catalytic 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 spliced
    transcripts,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

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004871signal transducer activity IMP12761501
    GO:0005388calcium-transporting ATPase activity IMP10615129
    GO:0005509calcium ion binding IDA12707275
    GO:0005524ATP binding IEA--
         
    ATP2C1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ATP2C1:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Lamellipodia and high actin ra 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp2c1):
     cellular  craniofacial  embryogenesis  growth/size  integument 
     mortality/aging  nervous system  tumorigenesis 

    ATP2C1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp2c1tm1Ges for ATP2C1

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    hsa-miR-579 hsa-miR-607 hsa-miR-520e hsa-miR-302d hsa-miR-1245 hsa-miR-938 hsa-miR-519a hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidATP2C1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2C1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP2C1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CREB Pathway
    IP3 Pathway0.68
    Intracellular Calcium Signaling0.50
    2Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    3SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    4calcium transport I
    calcium transport I

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP2C1
        Intracellular Calcium Signaling
    IP3 Pathway

    1 BioSystems Pathway for ATP2C1
        calcium transport I


    3        Reactome Pathways for ATP2C1
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases



    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)

    5/158 Interacting proteins for ATP2C1 (P981943 ENSP000003526654) via UniProtKB, MINT, STRING, and/or I2D (see all 158)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0006816calcium ion transport IMP10615129
    GO:0006828manganese ion transport IDA12707275
    GO:0006874cellular calcium ion homeostasis IMP10615129
    GO:0007165signal transduction IMP12761501

    ATP2C1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    EMD Millipore small molecules for ATP2C1:
    Small Molecule - inhibitor
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    6 HMDB Compounds for ATP2C1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    7 DrugBank Compounds for ATP2C1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    EnfluraneAnesthetic 347 (see all 7)13838-16-9targetinhibitor17139284 8214757 17016423 7873420
    Isoflurane-- 26675-46-7targetinhibitor17139284 8214757 17016423
    MethoxyfluraneMethoflurane (see all 11)76-38-0targetinhibitor7499320 17139284 17016423
    Calcium-- --targetagonist9787799 20573858
    DesfluraneDesflurano [INN-Spanish] (see all 2)57041-67-5targetinhibitor17139284 17016423
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7targetother/unknown17139284 17016423
    SevofluraneSevofluran (see all 3)28523-86-6targetinhibitor17139284 17016423

    6 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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_001199179
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000505330(uc011blg.2) ENST00000504381(uc011blh.2) ENST00000507488(uc011bli.2)
    ENST00000509150 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

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    Additional mRNA 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.100684990  DT.92015882  DT.92446994  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.92446990  DT.97847813  DT.120871843  DT.120871872 

    24/379 AceView cDNA sequences (see all 379):

    BG680481 AK074692 BM790190 BM761176 AI434874 BG169253 BQ311045 CK821500 
    BQ220831 AA905174 CB216037 CK821499 BM718330 NM_001001485 CN481726 AA781063 
    AA608731 AA905731 BQ775512 AK001684 CB528765 AI400410 AF181121 BM312891 

    GeneLoc Exon Structure


    (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)      ATP2C1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTATCATT
    ATP2C1 Expression
    About this image


    ATP2C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             retina   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             stem cells (umbilical cord cd34+)   
     
     Blood (Extraembryonic Tissues)    fully expand to see all 2 entries
             stem cells (umbilical cord cd34+)   
     
     Ovary (Reproductive System)
             oocyte   

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

        SABiosciences Expression via Pathway-Focused PCR Array including ATP2C1: 
              Hypertension in human mouse rat

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    (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 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2c11 , 5 ATPase, Ca++-sequestering1, 5 90.86(n)1
    96.49(a)1
      9 (56.61 cM)5
    2355741  NM_001253831.11  NP_001240760.11 
     1054035395 
    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
    ATPase, Ca++ transporting, type 2C, member 1
    91(a)
    1 ↔ 1
    6(37152401-37219505)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP2C1 gene
    ATP2A32  ATP2A22  ATP2C22  ATP2A12  
    10 SIMAP similar genes for ATP2C1 using alignment to 11 protein entries:     AT2C1_HUMAN (see all proteins):
    ATP2C2    DKFZp686I0955    ATP1A4    ATP2A2    ATP1A2    ATP2A1
    ATP1A3    ATP2A3    DKFZp779G2251    DKFZp779O2152

    ATP2C1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/3144 SNPs in ATP2C1 are shown (see all 3144)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0088074
    Hailey-Hailey disease (HHD)4--see VAR_0088072 T M mis40--------
    VAR_0226754
    Hailey-Hailey disease (HHD)4--see VAR_0226752 I V mis40--------
    VAR_0226774
    Hailey-Hailey disease (HHD)4--see VAR_0226772 G R mis40--------
    VAR_0088064
    Hailey-Hailey disease (HHD)4--see VAR_0088062 G R mis40--------
    VAR_0226744
    Hailey-Hailey disease (HHD)4--see VAR_0226742 C R mis40--------
    VAR_0088044
    Hailey-Hailey disease (HHD)4--see VAR_0088042 L P mis40--------
    VAR_0195234
    Hailey-Hailey disease (HHD)4--see VAR_0195232 C F mis40--------
    VAR_0101314
    Hailey-Hailey disease (HHD)4--see VAR_0101312 C Y mis40--------
    VAR_0226764
    Hailey-Hailey disease (HHD)4--see VAR_0226762 D Y mis40--------
    VAR_0088034
    Hailey-Hailey disease (HHD)4--see VAR_0088032 A T mis40--------

    HapMap Linkage Disequilibrium report for ATP2C1 (130569369 - 130735556 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ATP2C1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2670135CNV Deletion23128226
    esv2418561CNV Deletion18987734
    esv2562128CNV Deletion19546169


    Human Gene Mutation Database (HGMD): ATP2C1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604384   
    OMIM disorders: 169600  
    UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 17 diseases for ATP2C1:    About MalaCards
    hailey-hailey disease    pemphigus    skin conditions    hypertensive heart disease
    keratosis    skin disease    colon adenocarcinoma    cervical cancer
    cervicitis    hypertension    tuberculosis    hepatitis b
    adenocarcinoma    alzheimer's disease    hepatitis    pancreatitis
    breast cancer

    5 diseases from the University of Copenhagen DISEASES database for ATP2C1:
    Hailey-Hailey disease     Hypertensive heart disease     Lung cancer     Keratosis follicularis
    Hypertrophic cardiomyopathy

    ATP2C1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for ATP2C1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hailey-hailey disease 98.7 84 11841554 (3), 16463682 (2), 16901313 (2), 16255378 (2) (see all 57)
    darier disease 85.8 11 10767338 (1), 18060195 (1), 16467572 (1), 15888147 (1) (see all 7)
    skin diseases 71.3 19 16199140 (1), 15191544 (1), 15888147 (1), 17392835 (1) (see all 14)

    Human Genome Epidemiology (HuGE) Navigator: ATP2C1 (1 document)

    Export disorders for ATP2C1 gene to outside databases

    (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 131):
    (articles sorted by number of sources associating them with ATP2C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (2001)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27032 HGNC: 13211 AceView: ATP2C1 Ensembl:ENSG00000017260 euGenes: HUgn27032
    ECgene: ATP2C1 H-InvDB: ATP2C1

    (According to HUGE)
    About This Section
    HUGE: KIAA1347

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP2C1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP2C1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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