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

CSN1S1 Gene

protein-coding   GIFtS: 50
GCID: GC04P070845

casein alpha s1

(Previous names: casein, alpha )
(Previous symbols: CASA, CSN1)
 Explore 106 diseases affiliated with
CSN1S1 via our new
 Human Malady Compendium 
Biological research products
for CSN1S1
    

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

Aliases
Casein Alpha S11 2
CSN11 2 3 5
CASA1 2 3
Casein, Alpha1 2
Alpha-S1-Casein1

External Ids:    HGNC: 24451   Entrez Gene: 14462   Ensembl: ENSG000001265457   OMIM: 1154505   UniProtKB: P477103   

Export aliases for CSN1S1 gene to outside databases

Previous GC identifers: GC04P071046 GC04P071113 GC04P071114 GC04P070977 GC04P066594


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CASA1_HUMAN, P47710
Function: Important role in the capacity of milk to transport calcium phosphate
Function: Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors

Gene Wiki entry for CSN1S1


(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_000004.11  NC_018915.1  NT_022778.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CSN1S1 gene promoter:
         GATA-3   ATF-2   CUTL1   GATA-1   GATA-2   CRE-BP1   POU2F1   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSN1S1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CSN1S1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSN1S1


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

Entrez Gene cytogenetic band: 4q21.1   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q21.1

CSN1S1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSN1S1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P070845:  view genomic region     (about GC identifiers)

Start:
70,796,799 bp from pter      End:
70,812,289 bp from pter
Size:
15,491 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: CASA1_HUMAN, P47710 (See protein sequence)
Recommended Name: Alpha-S1-casein precursor  
Size: 185 amino acids; 21671 Da
Subunit: Heteromultimers of alpha-s1 casein and kappa-casein; disulfide-linked
Subcellular location: Secreted
Miscellaneous: In milk, the alpha s1- and beta-caseins precipitate in presence of calcium (so-called calcium-sensitive
caseins). Kappa-casein prevents the precipitation of the other caseins by calcium through the formation of large
stable colloidal particles termed micelles
Secondary accessions: A1A510 A1A511 E9PB60 Q4PNR5
Alternative splicing: 4 isoforms:  P47710-1   P47710-2   P47710-3   P47710-4   

Explore the universe of human proteins at neXtProt for CSN1S1: NX_P47710

Post-translational modifications:

  • Not glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P47710

  • CSN1S1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001020275.1  NP_001881.1  

    ENSEMBL proteins: 
     ENSP00000246891   ENSP00000422611   ENSP00000427490   ENSP00000426684   ENSP00000421314  
     ENSP00000413157  

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    Uscn Proteins for CSN1S1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--


    CSN1S1 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

    CSN1S1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001588 Casein
     IPR026999 Alpha-s1_casein

    Graphical View of Domain Structure for InterPro Entry P47710

    ProtoNet protein and cluster: P47710

    1 Blocks protein family: IPB001588 Casein

    UniProtKB/Swiss-Prot: CASA1_HUMAN, P47710
    Similarity: Belongs to the alpha-casein family


    (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: CASA1_HUMAN, P47710
    Function: Important role in the capacity of milk to transport calcium phosphate
    Function: Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CSN1S1:
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    Inhib. RNA
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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:0005215transporter activity IEA--


    CSN1S1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CSN1S1:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Csn1s1tm1Afk for CSN1S1
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Csn1s1):
     endocrine/exocrine gland  integument 

    CSN1S1 for phenotypes           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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CSN1S1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for CSN1S1 (P477103 ENSP000002468914) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929053, ENSP000003505124I2D: score=1 STRING: ENSP00000350512
    CPSF1Q105703, ENSP000003393534I2D: score=1 STRING: ENSP00000339353
    HTRA2O434643, ENSP000002580804I2D: score=1 STRING: ENSP00000258080
    STK4Q130433, ENSP000003618924I2D: score=1 STRING: ENSP00000361892
    TTBK1Q5TCY13, ENSP000002597504I2D: score=1 STRING: ENSP00000259750
    About this table

    (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

    CSN1S1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CSN1S1

    1 HMDB Compound for CSN1S1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    10/154 Novoseek chemical compound relationships for CSN1S1 gene (see all 154)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    whey 93.8 577 12617395 (9), 19589961 (8), 12617598 (7), 17109475 (7) (see all 99)
    rennet 91.1 64 12416796 (4), 10717847 (4), 15323482 (3), 10905693 (3) (see all 31)
    sodium caseinate 87.2 29 17630759 (2), 7738243 (2), 7593828 (2), 10564038 (1) (see all 15)
    calcium caseinate 79.4 3 2054060 (1), 14521035 (1), 16277399 (1)
    exorphins 78.5 6 11461171 (1), 18411161 (1), 9216246 (1), 12197782 (1) (see all 6)
    glucono-delta-lactone 74.9 5 15285105 (2), 11233022 (1), 19592288 (1)
    dnp-peptide 69.2 2 1650234 (1), 1659460 (1)
    lactose 67.6 59 15315384 (2), 1907301 (2), 12897287 (2), 16434457 (2) (see all 46)
    gliadin 66 44 14611720 (4), 9314097 (3), 9784660 (3), 7737562 (2) (see all 25)
    gluten 63.2 56 12153499 (4), 18425890 (4), 16685183 (3), 15106205 (3) (see all 34)

    Search CenterWatch for drugs/clinical trials and news about CSN1S1 / CASA1 

    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CSN1S1 gene (2 alternative transcripts): 
    NM_001025104.1  NM_001890.1  

    Unigene Cluster for CSN1S1:

    Casein alpha s1
    Hs.3155  [show with all ESTs]
    Unigene Representative Sequence: NM_001890
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000246891(uc003hep.1 uc003her.1) ENST00000507763 ENST00000507772
    ENST00000505782 ENST00000510936 ENST00000444405(uc003heq.1)

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    Additional cDNA sequence: 

    BC128227.1 BC128228.1 DQ064604.1 U23157.1 X78416.1 X98084.1 

    3 DOTS entries:

    DT.91693718  DT.91693723  DT.121273972 

    14 AceView cDNA sequences:

    NM_001890 X78416 BG187172 BG205233 X98084 BG199031 BG206324 U23157 
    BG187562 BG207337 BG217918 BG181959 BG217390 BG200584 

    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

    CSN1S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTACAGTGGT

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

    About this image
    See CSN1S1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CSN1S1

    SOURCE GeneReport for Unigene cluster: Hs.3155

    UniProtKB/Swiss-Prot: CASA1_HUMAN, P47710
    Tissue specificity: Mammary gland specific. Secreted in milk

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    In Situ
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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 human and mouse.

    Orthologs for CSN1S1 gene from 1/3 species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Csn1s15 casein alpha s1   --   5 (43.56 cM) 87666224 


    ENSEMBL Gene Tree for CSN1S1 (if available)
    TreeFam Gene Tree for CSN1S1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CSN1S1
    DNA2.0 Custom Variant and Variant Library Synthesis for CSN1S1

    (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.)
    About This Section

    CSN1S1 for disorders           About GeneDecksing

    OMIM gene information: 115450    OMIM disorders: --

    20/106 diseases for CSN1S1 (see all 106):    About MalaCards
    protein-energy malnutrition    perinatal necrotizing enterocolitis    lactose intolerance    advanced sleep phase syndrome
    tinea nigra    gastroesophageal reflux disease    dental caries    eosinophilic gastroenteritis
    enamel erosion    pyridoxine deficiency anemia    aortic aneurysm    denture stomatitis
    abdominal aortic aneurysm    ovarian mucinous neoplasm    food allergy    chronic tympanitis
    autism spectrum disorder    autoimmune enteropathy    connective tissue disease    phaeohyphomycosis

    13 diseases from the University of Copenhagen DISEASES database for CSN1S1:
    Hypersensitivity reaction type I disease     Amyloidosis     Mastitis     protein-energy malnutrition
    Dental caries     Enamel erosion     Diarrhea     Vascular disease
    Atopic dermatitis     Pellagra     Breast cancer     Diabetes mellitus
    Kidney disease

    10/89 Novoseek disease relationships for CSN1S1 gene (see all 89)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    allergy milk 88.7 30 20212353 (3), 10400857 (2), 11193464 (2), 9291294 (2) (see all 19)
    allergy food 65.9 4 9316283 (2), 14980195 (1)
    allergy 54.4 31 10400857 (3), 11193464 (3), 20015589 (2), 7978534 (2) (see all 21)
    dermatitis atopic 48.2 9 7532192 (1), 7492156 (1), 9316283 (1), 9027438 (1) (see all 8)
    encephalopathy chronic 36.9 1 2204661 (1)
    atopy 33.3 7 15829656 (1), 12512191 (1), 17300640 (1), 12642834 (1) (see all 5)
    enterocolitis 32.7 3 8258625 (1), 7532192 (1), 19650428 (1)
    allergic reaction 32.6 2 12012792 (1), 9316283 (1)
    autistic 29.7 8 17974154 (1), 15294752 (1), 18425890 (1), 12197782 (1) (see all 6)
    protein-energy malnutrition 24.4 9 12888117 (1), 15356995 (1), 12619051 (1), 7638725 (1)


    Export disorders for CSN1S1 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 CSN1S1 gene, integrated from 9 sources (see all 1213):
    (articles sorted by number of sources associating them with CSN1S1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of three types of human alpha s1-casein mRNA transcripts. (PubMed id 7619062)1, 2, 3, 9 Johnsen L.B.... Berglund L. (1995)
    2. Genomic organization and chromosomal localization of the human casein gene family. (PubMed id 9050925)1, 2, 3 Fujiwara Y....Ueda M. (1997)
    3. Human alpha S1-casein like protein: purification and N-terminal sequence determination. (PubMed id 8192860)1, 2 Cavaletto M.... Conti A. (1994)
    4. Analysis of the human casein phosphoproteome by 2-D electrophoresis and MALDI-TOF/TOF MS reveals new phosphoforms. (PubMed id 18847231)2, 9 Poth A.G.... Holland J.W. (2008)
    5. On studying protein phosphorylation patterns using bottom-up LC- MS/MS: the case of human alpha-casein. (PubMed id 17646876)2, 9 Kjeldsen F.... Zubarev R.A. (2007)
    6. A surface plasmon resonance study of the interactions between the component subunits of protein kinase CK2 and two protein substrates, casein and calmodulin. (PubMed id 11827172)1, 9 Benitez M.J....Jimenez J.S. (2001)
    7. Human alpha s1-casein: purification and characterization. (PubMed id 7749638)2, 9 Rasmussen L.K.... Petersen T.E. (1995)
    8. Herpes virus deneddylases interrupt the cullin-RING li gase neddylation cycle by inhibiting the binding of CAND1. (PubMed id 22474075)1 Gastaldello S....Masucci M.G. (2012)
    9. Insulin autoantibodies with high affinity to the bovi ne milk protein alpha casein. (PubMed id 21361910)1 Adler K....Bonifacio E. (2011)
    10. Casein I+ s1 is expressed by human monocytes and upreg ulates the production of GM-CSF via p38 MAPK. (PubMed id 21135174)1 VordenbAoumen S....Schneider M. (2011)

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

      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1446 HGNC: 2445 AceView: CSN1S1 Ensembl:ENSG00000126545 euGenes: HUgn1446
    ECgene: CSN1S1 H-InvDB: CSN1S1

    (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 CSN1S1 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt016.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CSN1S1 gene:
    Search GeneIP for patents involving CSN1S1

    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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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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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