Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

CSN1S1 Gene

protein-coding   GIFtS: 52
GCID: GC04P070845

Casein Alpha S1

(Previous names: casein, alpha)
(Previous symbols: CASA, CSN1)
Microbiology & Infectious 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
Casein Alpha S11 2
CSN11 2 3 5
CASA1 2 3
Casein, Alpha1 2
alpha-S1-casein2

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

GeneCards Summary for CSN1S1 Gene: 
CSN1S1 (casein alpha s1) is a protein-coding gene. Diseases associated with CSN1S1 include pyridoxine deficiency anemia, and pyridoxine deficiency. GO annotations related to this gene include transporter activity.

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 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_000004.11  NC_018915.2  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 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: 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

Explore proteomics data for CSN1S1 at MOPED 

Post-translational modifications:

  • UniProtKB: Not glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P47710

  • CSN1S1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CSN1S1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001020275.1  NP_001881.1  

    ENSEMBL proteins: 
     ENSP00000246891   ENSP00000422611   ENSP00000427490   ENSP00000426684   ENSP00000421314  
     ENSP00000413157  

    Human Recombinant Protein Products for CSN1S1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CSN1S1
    OriGene Protein Over-expression Lysate for CSN1S1
    OriGene MassSpec for CSN1S1 
    OriGene Custom Protein Services for CSN1S1
    GenScript Custom Purified and Recombinant Proteins Services for CSN1S1
    Novus Biologicals CSN1S1 Protein
    Novus Biologicals CSN1S1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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



    CSN1S1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CSN1S1
    GenScript Custom Superior Antibodies Services for CSN1S1
    Novus Biologicals CSN1S1 Antibodies
    Abcam antibodies for CSN1S1
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for CSN1S1
    LSBio Antibodies in human, mouse, rat for CSN1S1 

    Assay Products for CSN1S1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CSN1S1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CSN1S1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001588 Casein
     IPR026999 Alpha-s1_casein

    Graphical View of Domain Structure for InterPro Entry P47710

    ProtoNet protein and cluster: P47710

    1 Blocks protein domain: IPB001588 Casein

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


    CSN1S1 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: 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 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


    Phenotypes:
         1 GenomeRNAi human phenotype for CSN1S1:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Csn1s1):
     endocrine/exocrine gland  integument 

    CSN1S1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Csn1s1tm1Afk for CSN1S1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CSN1S1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CSN1S1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSN1S1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSN1S1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CSN1S1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CSN1S1:
    hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidCSN1S1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CSN1S1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CSN1S1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CSN1S1
    Sirion Biotech Customized adenovirus for overexpression of CSN1S1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CSN1S1 (see all 11)
    OriGene ORF clones in mouse, rat for CSN1S1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CSN1S1 (NM_001890)
    Sino Biological Human cDNA Clone for CSN1S1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSN1S1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSN1S1
    Sirion Biotech Customized lentivirus for stable overexpression of CSN1S1 
                         Customized lentivirus expression plasmids for stable overexpression of CSN1S1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CSN1S1
    Search LifeMap BioReagents cell lines for CSN1S1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSN1S1


    (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




    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, 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

    CSN1S1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CSN1S1 (CASA1)

    1 HMDB Compound for CSN1S1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/154 Novoseek inferred 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 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 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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CSN1S1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CSN1S1:
    hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidCSN1S1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CSN1S1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CSN1S1
    Clone
    Products:
         
    OriGene clones in human, mouse for CSN1S1 (see all 11)
    OriGene ORF clones in mouse, rat for CSN1S1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CSN1S1 (NM_001890)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSN1S1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSN1S1
    Sirion Biotech Customized lentivirus for stable overexpression of CSN1S1 
                         Customized lentivirus expression plasmids for stable overexpression of CSN1S1 
    Primer
    Products:
        
    Browse OriGene qPCR
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat CSN1S1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSN1S1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSN1S1

    Additional mRNA 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:

    X78416 NM_001890 BG199031 BG206324 X98084 BG187562 BG205233 U23157 
    BG187172 BG217918 BG207337 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 <intensity>2/3
    CGAP TAG: CTACAGTGGT
    CSN1S1 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

        SABiosciences Custom PCR Arrays for CSN1S1
    Primer
    Products:
    Browse OriGene qPCR
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat CSN1S1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSN1S1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSN1S1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSN1S1

    (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 1/4 species (see all 4)    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, 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

    10/484 SNPs in CSN1S1 are shown (see all 484)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1832877471,2
    --70794884(+) TTGCCA/CAGGCC 2 -- us2k10--------
    rs1890784941,2
    --70794912(+) TGAATA/GGGAGT 2 -- us2k10--------
    rs1435484701,2
    --70794955(+) TTTCAA/CAGGGA 2 -- us2k10--------
    rs12208431,2
    C,F,H--70794993(-) agccaG/Atatca 2 -- us2k12Minor allele frequency- A:0.50NA 4
    rs1926344381,2
    --70795102(+) AAAGGA/CCTTTT 2 -- us2k10--------
    rs562758001,2
    C--70795168(+) TATTAC/TGTTTA 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1848392981,2
    --70795170(+) TTACGG/TTTATT 2 -- us2k10--------
    rs1464765211,2
    --70795282(+) TTTATA/TGAGGA 2 -- us2k10--------
    rs1390597071,2
    C--70795327(+) AAAATC/TCTTTT 2 -- us2k10--------
    rs1166468141,2
    F--70795341(+) GTTGTG/TTCTCT 2 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for CSN1S1 (70796799 - 70812289 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CSN1S1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv5629n71CNV Loss21882294
    nsv879454CNV Loss21882294
    dgv5628n71CNV Loss21882294
    nsv879455CNV Loss21882294
    nsv879460CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 115450    OMIM disorders: --

    20/111 diseases for CSN1S1 (see all 111):    About MalaCards
    pyridoxine deficiency anemia    pyridoxine deficiency    chronic tympanitis    nocardiosis
    autoimmune enteropathy    phaeohyphomycosis    mastitis    eosinophilic gastroenteritis
    denture stomatitis    dental caries    gastroenteritis    lactose intolerance
    ovarian mucinous neoplasm    pellagra    perinatal necrotizing enterocolitis    advanced sleep phase syndrome
    enamel erosion    gastroesophageal reflux disease    mycetoma    protein-energy malnutrition

    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     Vascular disease     Diarrhea
    Atopic dermatitis     Diabetes mellitus     Breast cancer     Pellagra
    Kidney disease

    CSN1S1 for disorders           About GeneDecksing


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

    10/89 Novoseek inferred 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
    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: 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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CSN1S1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for CSN1S1  
     OriGene MassSpec something-or-other for CSN1S1   OriGene clones in human, mouse for CSN1S1  
     Browse OriGene qSTAR qPCR primer pairs   OriGene Purified Protein for CSN1S1  
     OriGene ORF clones in mouse, rat for CSN1S1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CSN1S1   OriGene Custom Protein Services for CSN1S1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CSN1S1
     QIAGEN SeqTarget long-range PCR primers for resequencing CSN1S1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSN1S1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CSN1S1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSN1S1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSN1S1
     GenScript Custom Purified and Recombinant Proteins Services for CSN1S1 GenScript cDNA clones with any tag delivered in your preferred vector for CSN1S1
     GenScript Custom Assay Services for CSN1S1 GenScript Custom Superior Antibodies Services for CSN1S1
     GenScript Custom overexpressing Cell Line Services for CSN1S1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CSN1S1 promoter
     Search Chromatin IP Primers for CSN1S1
     RT2 qPCR Primer Assay in human, mouse / rat CSN1S1
     Search GNC Networks for CSN1S1
     SABiosciences Custom PCR Arrays for CSN1S1
     Search Tocris compounds for CSN1S1 (CASA1)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for CSN1S1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CSN1S1 antibodies
     CSN1S1 proteins
     CSN1S1 lysates
     Antibodies for CSN1S1
     See all of Abcam's Antibodies, Kits and Proteins for CSN1S1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for CSN1S1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSN1S1
     SwitchGear 3'UTR luciferase reporter plasmids for CSN1S1
     SwitchGear Promoter luciferase reporter plasmids for CSN1S1
     ThermoFisher Antibodies for CSN1S1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSN1S1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for CSN1S1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CSN1S1
    Customized:
     lentivirus for stable overexpression of CSN1S1
     lentivirus expression plasmids for stable overexpression of CSN1S1
     adenovirus for overexpression of CSN1S1
     LSBio Antibodies in human, mouse, rat for CSN1S1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CSN1S1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4