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ATP2C1 Gene

protein-coding   GIFtS: 69
GCID: GC03P130571

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

(Previous name: benign chronic pemphigus (Hailey-Hailey disease))
(Previous symbol: BCPM)
  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)
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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 GC03P130613 GC03P127997


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP2C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC03P130571:  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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AT2C1_HUMAN, P98194 (See protein sequence)
Recommended Name: Calcium-transporting ATPase type 2C member 1  
Size: 919 amino acids; 100577 Da
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: 

  • Ubiquitination2 at Lys229, Lys496, Lys907
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP2C1 (P98194) (see all 34)
     GVVIGTG  AIPEGLP  GDRVPAD  QFKNPLI 


    See ATP2C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ATP2C1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ATP2C1
    GenScript Custom Purified and Recombinant Proteins Services for ATP2C1
    Novus Biologicals ATP2C1 Proteins
    Novus Biologicals ATP2C1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATP2C1

    ATP2C1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATP2C1
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    Novus Biologicals ATP2C1 Antibodies
    Abcam antibodies for ATP2C1
    Cloud-Clone Corp. Antibodies for ATP2C1
    ThermoFisher Antibody for ATP2C1
    LSBio Antibodies in human, mouse, rat for ATP2C1

    ATP2C1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ATP2C1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATP2C1
    Cloud-Clone Corp. CLIAs for ATP2C1


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

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

    Selected InterPro protein domains (see all 8):
     IPR023298 ATPase_P-typ_TM_dom
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N
     IPR001757 Cation_transp_P_typ_ATPase

    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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/body  integument 
     mortality/aging  nervous system  tumorigenesis 

    ATP2C1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp2c1tm1Ges for ATP2C1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP2C1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATP2C1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP2C1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP2C1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATP2C1:
    hsa-mir-18a-3p (MIRT040808)

    Block miRNA regulation of human, mouse, rat ATP2C1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP2C1 (see all 55):
    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
    Products:
        
    OriGene RNAi products in human, mouse, rat for ATP2C1
    Predesigned siRNA for gene silencing in human, mouse, rat ATP2C1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATP2C1

    Clone
    Products:
         
    OriGene clones in human, mouse for ATP2C1 (see all 22)
    OriGene ORF clones in mouse, rat for ATP2C1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 11): ATP2C1 (NM_014382)
    Sino Biological Human cDNA Clone for ATP2C1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP2C1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP2C1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ATP2C1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ATP2C1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2C1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT2C1_HUMAN, P98194: Golgi apparatus membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane3
    endoplasmic reticulum2
    cytosol1
    extracellular1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    ATP2C1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP2C1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion transport by P-type ATPases
    Ion transport by P-type ATPases
    calcium transport I0.00
    2CREB Pathway
    IP3 Pathway0.68
    Intracellular Calcium Signaling0.50
    3Ion channel transport
    Ion channel transport0.58
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for ATP2C1
        calcium transport I


    1 Reactome Pathway for ATP2C1
        Ion transport by P-type ATPases



    ATP2C1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP2C1: 
              Hypertension in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATP2C1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP2C1 (P981943 ENSP000003526654) via UniProtKB, MINT, STRING, and/or I2D (see all 217)
    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): Selected biological process terms (see all 16):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP2C1 (AT2C1)

    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)



    ATP2C1 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP2C1 (see all 55):
    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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    OriGene RNAi products in human, mouse, rat for ATP2C1
    Predesigned siRNA for gene silencing in human, mouse, rat ATP2C1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 11): ATP2C1 (NM_014382)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP2C1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP2C1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ATP2C1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP2C1
      QuantiTect SYBR Green Assays in human, mouse, rat ATP2C1
      QuantiFast Probe-based Assays in human, mouse, rat ATP2C1

    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 

    Selected DOTS entries (see all 25):

    DT.100673027  DT.100684990  DT.92015882  DT.91879107  DT.92446994  DT.100673024  DT.446326  DT.97808750 
    DT.97770002  DT.102834165  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 

    Selected AceView cDNA sequences (see all 379):

    CR615088 AB037768 BF589126 AF181120 AI752982 AI138879 AY268374 AK001684 
    AW514315 AY268375 AA767461 AI559521 BQ775512 BM718330 AA781063 AI684566 
    AA401315 BG169253 NM_014382 CB241158 BF669202 AW161055 BM821981 AA608731 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ATP2C1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Retina
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ATP2C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP2C1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP2C1: 
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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATP2C1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2c11 , 5 ATPase, Ca++-sequestering1, 5 90.76(n)1
    96.22(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 83.95(n)
    91.94(a)
      428450  XM_426010.4  XP_426010.4 
    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 atp2c11 ATPase, Ca++ transporting, type 2C, member 1 71.62(n)
    82.4(a)
      559574  XM_003200239.2  XP_003200287.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta SPoCk1 Secretory Pathway Calcium atpase 58.19(n)
    62.93(a)
      40495  NM_168961.4  NP_730742.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pmr-11 pmr-1 58.42(n)
    59.25(a)
      173176  NM_001026691.3  NP_001021862.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMR1(YGL167C)4
    PMR11
    High affinity Ca2+/Mn2+ P-type ATPase required for more4
    PMR11
    54.12(n)1
    50.83(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)
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    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    ATP1A2    ATP2A2    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP2C1 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP2C1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP2C1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for ATP2C1 (see all 21):    
    About MalaCards
    hailey-hailey disease    pemphigus    hypertensive heart disease    keratosis
    skin disease    hypertrophic cardiomyopathy    colon adenocarcinoma    hypertension
    cervical cancer    cervicitis    hepatitis b    tuberculosis
    adenocarcinoma    alzheimer's disease    hepatitis    lung cancer
    pancreatitis    breast cancer    multiple myeloma    myeloma

    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

    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)
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    PubMed articles for ATP2C1 gene, integrated from 10 sources (see all 133):
    (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. (Hum. Mol. Genet. 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. (Nat. Genet. 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. (J. Biol. Chem. 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. (J. Invest. Dermatol. 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. (J. Invest. Dermatol. 2002)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2004)
    8. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (Yeast 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. (DNA Res. 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. (J. Dermatol. Sci. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 27032 HGNC: 13211 AceView: ATP2C1 Ensembl:ENSG00000017260 euGenes: HUgn27032
    ECgene: ATP2C1 H-InvDB: ATP2C1

    (According to HUGE)
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    HUGE: KIAA1347

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATP2C1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP2C1[genesymbol]

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