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SAP130 Gene

protein-coding   GIFtS: 50

GC02M128415
Sin3A-associated protein, 130kDa
(Previous names: sin3A-associated protein, 130kDa )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
FLJ12761 1, 2
Descriptions
130 kDa Sin3-associated polypeptide 3
Sin3-associated polypeptide p130 2, 3
Sin3A-associated protein, 130kDa 1, 2
histone deacetylase complex subunit SAP130 2
mSin3A-associated protein 130 2
External Ids
HGNC: 298131
Entrez Gene: 795952
UniProtKB: Q9H0E33
Ensembl: ENSG000001367157
Search outside databases for aliases for SAP130 gene

Previous GC identifers: GC02M128603 GC02M128792

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

EntrezGene summary for SAP130:
SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776)
corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM]

UniProtKB/Swiss-Prot: SP130_HUMAN, Q9H0E3
Function: Acts as a transcriptional repressor. May function in the assembly and/or enzymatic
activity of the mSin3A corepressor complex or in mediating interactions between the complex and
other regulatory complexes

Gene Wiki entry for SAP130

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SAP130 gene  

Entrez Gene cytogenetic band: 2q14.3   Ensembl cytogenetic band:  2q14.3   HGNC cytogenetic band: 2q14.3

SAP130 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M128415:     (about GC identifiers)

Start:
128,415,262 bp from pter
End:
128,502,164 bp from pter
Size:
86,903 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_022135.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: SP130_HUMAN, Q9H0E3 (See protein sequence)
Recommended Name: Histone deacetylase complex subunit SAP130  
Size: 1048 amino acids; 110324 Da
Subunit: Component of a mSin3A corepressor complex that contains SIN3A, SAP130, SUDS3/SAP45,
ARID4B/SAP180, HDAC1 and HDAC2
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q4ZFV4 Q53T46 Q8WVW4 Q9H9G8
Alternative splicing: 2 isoforms:  Q9H0E3-1   Q9H0E3-2   

Post-translational modifications:

  • Acetylated (Probable)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001139400.1  NP_078821.2  


    ENSEMBL proteins: 
    ENSP00000259235 ENSP00000386740 ENSP00000259234 ENSP00000350333 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (SAP130)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    About this table

    Antibodies for SAP130: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (SAP130), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for SAP130

    Assays for SAP130: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    ProtoNet protein and cluster: Q9H0E3

    UniProtKB/Swiss-Prot: SP130_HUMAN, Q9H0E3
    Domain: The N-terminus may interact with a transcriptional coactivator
    Domain: The C-terminus may interact with HDAC-dependent and HDAC-independent corepressors
    Similarity: Belongs to the SAP130 family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SAP130)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_024545

                  Applied Biosystems Silencer® siRNAs for SAP130

                  Sigma-Aldrich siRNA for SAP130  
                         Sigma-Aldrich shRNA for SAP130  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_024545
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_024545
                                     untagged cDNA clone in CMV expression vector: NM_024545 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_024545

    UniProtKB/Swiss-Prot: SP130_HUMAN, Q9H0E3
    Function: Acts as a transcriptional repressor. May function in the assembly and/or enzymatic
    activity of the mSin3A corepressor complex or in mediating interactions between the complex and
    other regulatory complexes

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Millipore Pathways for SAP130
     Transcription Sin3 and NuRD in transcription regulation
     Transcription Ligand-Dependent Transcription of Retinoid-Target genes

       GeneDecks  SAP130 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  SAP130  (Your Favorite Gene powered by Ingenuity) 
     DNA Methylation and Transcriptional Repression Signaling

       GeneDecks  SAP130 for the pathways selected above  
    About GeneDecksing


    1 Interacting protein for SAP130 (Q9H0E32) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222MINT-61720
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006350 transcription IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for SAP130

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SAP130)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_024545

                  Sigma-Aldrich siRNA for SAP130  
                         Sigma-Aldrich shRNA for SAP130  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_024545  

    REFSEQ mRNAs for SAP130 gene (2 alternative transcripts): 

    NM_001145928.1   NM_024545.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_024545  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_024545
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_024545
                                     untagged cDNA clone in CMV expression vector: NM_024545 

    Additional cDNA sequence: 

    AK022823.1 AK055979.1 AK092234.1 AK315185.1 AL136833.1 AY220791.1 BC017453.1 BC117255.1 
    BC143898.1 CR610925.1 

    11 DOTS entries:

    DT.95272989  DT.100755412  DT.97844302  DT.40193170  DT.99947956  DT.100755418  DT.120951135  DT.92432942 
    DT.95272987  DT.95318104  DT.101984247 

    24/169 AceView cDNA sequences (see all 169 ):

    BU855804 AA421476 BQ001004 BF507582 BM974962 BM981502 BM999957 BQ004698 
    BM666139 AA301138 CA951054 CA438415 AK055979 BM798273 NM_024545 CD675140 
    BM711051 BP353559 BQ002080 AK022823 BC017453 BU626180 BM461013 AL514244 

    highest scoring ESTs for SAP130:

    AI936906 AK055979 AL136833 AL557379 BU167898 AA233350 AA233443 AA234748 AA235147 AA251193 

    Unigene Cluster for SAP130:

    Sin3A-associated protein, 130kDa
    Hs.32995  [show with all ESTs]
    Unigene Representative Sequence: NM_001145928


    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SAP130 (see all 11 )

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c · 16d ^ 17a · 17b ^ 18 ^ 19 ^
    SP1:                                                                                                                                                  -     -   
    SP2:        -     -                                                                                                                                         -   
    SP3:                                                                                                                                                  -     -   
    SP4:                                                                                                                                                        -   
    SP5:              -                                                                                                                                             

    ExUns: 20a · 20b · 20c · 20d ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        

    About this scheme

    ECgene alternative splicing isoforms for SAP130

    4 Ensembl transcripts including schematic representations:
    ENST00000259235  ENST00000409388  ENST00000259234  ENST00000357702  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    SAP130 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SAP130

    1 / 2 / 3

    7 probe-sets matching SAP130 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    48052_at2, 3 U95-B 1 1.00 1.00 0.66 1.27 AI936906 0.80 1.00 0.91 1

    56881_at*2, 3 U95-B 3 1.00 0.33 0.45 1.23 AI807211 0.20 0.33 0.27 1

    78485_at*2, 3 U95-D 1 -- -- 0.81 0.52 H57697 0.20 1.00 0.72 1

    220367_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_024545 0.60 1.00 0.82 1

    228650_at*2, 3 U133-B 4 1.00 0.33 -- -- AI807211 0.20 0.33 0.27 1

    220367_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    228650_at*2 U133Plus2 4 1.00 0.33 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTGGCCTTTT

    SOURCE GeneReport for Unigene cluster: Hs.32995

    UniProtKB/Swiss-Prot: SP130_HUMAN, Q9H0E3
    Tissue specificity: Expressed in various cancer cell ines

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for SAP130 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SAP1301   -- Sin3A-associated protein, 130kDa 90.72(n)
    96.27(a)
    476102  XM_533311.2  XP_533311.2 
    chimpanzee
    (Pan troglodytes)
    SAP1301   -- Sin3A-associated protein, 130kDa 99.59(n)
    100(a)
    470529  XM_525910.2  XP_525910.2 
    rat
    (Rattus norvegicus)
    Sap1301   -- Sin3A associated protein 86.69(n)
    92.42(a)
    307527  XM_226078.4  XP_226078.4 
    mouse
    (Mus musculus)
    Sap1301, 5 185
    Sin3A associated protein1, 5 88.34(n)1
    93.83(a)1
    2690031  NM_172965.21  NP_766553.11 
     AI6470065  AK0119785  (see all 14)
    chicken
    (Gallus gallus)
    SAP1301   -- Sin3A-associated protein, 130kDa 78.51(n)
    88.32(a)
    424756  NM_001031301.1  NP_001026472.1 
    About this table        Species with no ortholog for SAP130

    ENSEMBL Gene Tree for SAP130
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/423 NCBI SNPs in SAP130 are shown (see all 423 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 103)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs37321961,2
    A,C,F,H128460927(+) ACCACG/AGTTGT 1 T/T syn1 ese311Minor allele frequency- A:0.14EA NA EU WA 2236
    rs64309681,2
    A,C,F,H128491934(+) ACTTCA/GGAATC 1 S/S syn1 ese38Minor allele frequency- G:0.03NA EU EA WA 632
    rs22766811,2
    C,F,H128474128(+) GTGTTG/CGTTGC 1 T/T syn16Minor allele frequency- C:0.05EA EU WA NA 1974
    rs170158641,2
    C,F128474465(+) GCTGCA/CGATGG 1 S/S syn1 ese34Minor allele frequency- C:0.07NA 212
    rs357751221,2
    F128484399(+) ACAGCA/GGGAGG 1 P/P syn11Minor allele frequency- G:0.03NA 76
    --
    rs24380301,2
    A,C,F,H,O128462925(+) ATTCCA/GTTTTT 1 -- int17Minor allele frequency- G:0.36EU EA WA NA 544
    rs24380391,2
    A,C,F,H,O128423160(+) GCTTAA/CTTAGT 1 -- int111Minor allele frequency- C:0.19EU EA WA NA 978
    rs29480681,2
    A,C,F,H,O128461050(+) GGGAAG/ACAAAA 1 -- int1 trp314Minor allele frequency- A:0.29EA EU WA NA 2654
    rs13702291,2
    A,C,F,H,O128416303(+) TGAGGC/TTTCCA 1 -- int123Minor allele frequency- N:0.00EA NA NS EU WA 2930
    rs18983411,2
    A,C,F,H,O128437152(+) TAGCCA/GTTAGA 1 -- int119Minor allele frequency- G:0.30EU EA WA NA 1758
    About this table

    HapMap Linkage Disequilibrium images for SAP130 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 609697

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/16 PubMed articles for SAP130 gene (see all 16 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 79595 HGNC: 29813 AceView: SAP130 Ensembl:ENSG00000136715 euGenes: HUgn79595
    ECgene: SAP130 H-InvDB: SAP130
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SAP130:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for SAP130-related products

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


     Predesigned and custom siRNAs for SAP130 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for SAP130 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for SAP130

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