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

CAPS Gene

protein-coding   GIFtS: 50
GCID: GC19P005911

calcyphosine

 Explore 4 diseases affiliated with
CAPS via our new
 Human Malady Compendium 
Biological research products
for CAPS
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Calcyphosine3     Calcyphosin1
Calcyphosine3     Calcyphosine 12
CAPS11 2     Thyroid Protein P242
MGC1265621     

External Ids:    HGNC: 14871   Entrez Gene: 8282   Ensembl: ENSG000001055197   OMIM: 1142125   UniProtKB: Q139383   

Export aliases for CAPS gene to outside databases

Previous GC identifers: GC19P006006 GC19P005851 GC19P005865 GC19P005673


(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 CAPS:
This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar
protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5
antigen in rabbit. Alternative splicing of this gene generates two transcript variants. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CAYP1_HUMAN, Q13938
Function: Calcium-binding protein. May play a role in cellular signaling events (Potential)

Gene Wiki entry for CAPS


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAPS gene promoter:
         FAC1   AP-1   ATF-2   MIF-1   c-Jun   Pax-4a   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPS promoter sequence
   Search SABiosciences Chromatin IP Primers for CAPS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAPS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P005911:  view genomic region     (about GC identifiers)

Start:
5,911,718 bp from pter      End:
5,916,222 bp from pter
Size:
4,505 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CAYP1_HUMAN, Q13938 (See protein sequence)
Recommended Name: Calcyphosin  
Size: 189 amino acids; 20967 Da
Subunit: Monomer. Does not form oligomers in the presence of calcium
Subcellular location: Cytoplasm
1 PDB 3D structure from and Proteopedia for CAPS:
3E3R (3D)    
Secondary accessions: Q3MJA7 Q8WUZ3

Explore the universe of human proteins at neXtProt for CAPS: NX_Q13938

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13938

  • CAPS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_004049.1  NP_542157.1  

    ENSEMBL proteins: 
     ENSP00000465883   ENSP00000222125   ENSP00000403263   ENSP00000468582  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--


    CAPS for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CAPS for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q13938

    ProtoNet protein and cluster: Q13938

    UniProtKB/Swiss-Prot: CAYP1_HUMAN, Q13938
    Similarity: Contains 4 EF-hand domains


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

    Function Summary:

         UniProtKB/Swiss-Prot: CAYP1_HUMAN, Q13938
    Function: Calcium-binding protein. May play a role in cellular signaling events (Potential)

         Genatlas biochemistry entry for CAPS:
    calcyphosine,calcium binding protein

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--


    CAPS for ontologies           About GeneDecksing



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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CAPS

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CAPS (ENSP000002221254) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA1549ENSP000002423654STRING: ENSP00000242365
    PIP5K1AENSP000003578834STRING: ENSP00000357883
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035556intracellular signal transduction TAS2540953


    CAPS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CAPS

    1 HMDB Compound for CAPS    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about CAPS / CAYP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for CAPS gene (2 alternative transcripts): 
    NM_004058.3  NM_080590.2  

    Unigene Cluster for CAPS:

    Calcyphosine
    Hs.584744  [show with all ESTs]
    Unigene Representative Sequence: AK090469
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588776 ENST00000222125(uc002mdt.3) ENST00000452990(uc002mdu.3)
    ENST00000590428 ENST00000585541 ENST00000588865

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    hsa-miR-411* hsa-miR-2052 hsa-miR-323-3p hsa-miR-19b-2* hsa-miR-379* hsa-miR-631 hsa-miR-219-5p hsa-miR-3661
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPS

    Additional cDNA sequence: 

    AK090469.1 AK123559.1 AK226026.1 BC011961.1 BC080599.1 BC101513.1 BC104766.1 X97966.1 

    6 DOTS entries:

    DT.312821  DT.97760083  DT.100659278  DT.99976177  DT.99975780  DT.95288317 

    24/186 AceView cDNA sequences (see all 186):

    AW151211 AI624988 BM716373 CF128141 BG950416 BU689238 CA396674 AI924700 
    BM699638 CR601253 CR623055 AI613142 AI628545 BM725337 BG767590 AI560810 
    CK821926 BM712749 BQ673321 BQ436748 AW510425 BQ673294 BE396135 AW513409 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CAPS    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b
    SP1:                          -                           
    SP2:                          -           -               
    SP3:                                                      


    ECgene alternative splicing isoforms for CAPS

    (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

    CAPS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGACCAGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CAPS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAPS

    SOURCE GeneReport for Unigene cluster: Hs.584744
        SABiosciences Custom PCR Arrays for CAPS
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    In Situ
    Assay Products:
     

     
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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.

    Orthologs for CAPS gene from 2/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii capsla6
    calcyphosine-like a
    55(a)
    1 ↔ 1
    2(54479382-54485838)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101263 calcium ion binding 47(a)   87D2   --


    ENSEMBL Gene Tree for CAPS (if available)
    TreeFam Gene Tree for CAPS (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAPS gene
    CAPSL2  CAPS22  
    5 SIMAP similar genes for CAPS using alignment to 3 protein entries:     CAYP1_HUMAN (see all proteins):
    FLJ00390    CAPSL    CAPS2    SLC25A24    TNNC2

    CAPS for paralogs           About GeneDecksing



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

    10/126 NCBI SNPs in CAPS are shown (see all 126    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1880205311,2
    --5912237(+) GGCACA/GATCTC 2 -- us2k10--------
    rs118828111,2
    C,H,--5912330(+) CACCAC/TGCCCA 2 -- us2k1 ese31Minor allele frequency- T:0.50NA 2
    rs2747881,2
    C,F,A,--5912464(+) gccacC/Tgcacc 2 -- us2k1 ese34Minor allele frequency- T:0.38NA WA 8
    rs1908904131,2
    --5912638(+) GAGGCA/GGGCGT 2 -- us2k10--------
    rs2747871,2
    C,F,A,--5912641(+) GCGGGC/GGTCTT 2 -- us2k1 ese37Minor allele frequency- G:0.45NA WA CSA 247
    rs1114900261,2
    C,--5912678(+) TGGTGC/TGATCA 2 -- us2k10--------
    rs1830550001,2
    --5912711(+) CCCGGA/GCTCAA 2 -- us2k10--------
    rs2747861,2
    C,--5912812(+) gggggG/Ttctca 2 -- us2k14Minor allele frequency- T:0.17NA WA 242
    rs1873904231,2
    --5912854(+) GGCTCA/GAGTGA 2 -- us2k10--------
    rs1931086921,2
    --5912909(+) GCCACC/TGCGCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CAPS (5911718 - 5916222 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CAPS: --

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

    CAPS for disorders           About GeneDecksing

    OMIM gene information: 114212    OMIM disorders: --

    4 diseases for CAPS:    About MalaCards
    thyroiditis    anorexia nervosa    antiphospholipid syndrome    endometrial cancer

    Human Genome Epidemiology (HuGE) Navigator: CAPS (43 documents)

    Export disorders for CAPS 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 CAPS gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with CAPS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequence analysis of human calcyphosine complementary DNA. (PubMed id 9224948)1, 2, 3, 9 el Housni H.... Christophe D. (1997)
    2. Localization of human calcyphosine gene (CAPS) to the p13.3 region of chromosome 19 by in situ hybridization. (PubMed id 2265558)1, 3, 9 Lefort A....Mattei M.G. (1990)
    3. Crystal-structure and biochemical characterization of recombinant human calcyphosine delineates a novel EF-hand-containing protein family. (PubMed id 18775726)1, 2 Dong H....Rao Z. (2008)
    4. 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)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    6. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1 Pinheiro A.P....Woodside D.B. (2010)
    7. Crystallization and preliminary crystallographic analysis of recombinant human calcyphosine. (PubMed id 19275752)1 Dong H....Bartlam M. (2009)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. Prognostic evaluation of epidermal fatty acid-binding protein and calcyphosine, two proteins implicated in endometrial cancer using a proteomic approach. (PubMed id 18729184)1 Li Z....Zhao X. (2008)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 828 HGNC: 1487 AceView: CAPSandVMAC Ensembl:ENSG00000105519 euGenes: HUgn828
    ECgene: CAPS H-InvDB: CAPS

    (According to HUGE)
    About This Section
      --

    (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 CAPS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CAPS gene:
    Search GeneIP for patents involving CAPS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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