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

SAP130 Gene

protein-coding   GIFtS: 54
GCID: GC02M128792

Sin3A-Associated Protein, 130kDa

(Previous names: sin3A-associated protein, 130kDa)
  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
Sin3A-Associated Protein, 130kDa1 2
130 KDa Sin3-Associated Polypeptide2 3
Sin3-Associated Polypeptide P1302 3
Histone Deacetylase Complex Subunit SAP1302
MSin3A-Associated Protein 1302

External Ids:    HGNC: 298131   Entrez Gene: 795952   Ensembl: ENSG000001367157   OMIM: 6096975   UniProtKB: Q9H0E33   

Export aliases for SAP130 gene to outside databases

Previous GC identifers: GC02M128603 GC02M128415 GC02M121004


(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 SAP130 Gene:
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, Mar 2008)

GeneCards Summary for SAP130 Gene: 
SAP130 (Sin3A-associated protein, 130kDa) is a protein-coding gene. Diseases associated with SAP130 include xeroderma pigmentosum, and acute lymphoblastic leukemia, and among its related super-pathways are Transcription Ligand-Dependent Transcription of Retinoid-Target genes and Development NOTCH1-mediated pathway for NF-KB activity modulation. GO annotations related to this gene include transcription coactivator activity and histone acetyltransferase activity.

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 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_000002.11  NT_022135.16  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SAP130 gene promoter:
         Nkx3-1   USF1   Nkx3-1 v1   AP-2gamma   Nkx3-1 v2   USF-1   Nkx3-1 v3   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SAP130 promoter sequence
   Search SABiosciences Chromatin IP Primers for SAP130

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAP130


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

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)
SAP130 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M128792:  view genomic region     (about GC identifiers)

Start:
128,698,791 bp from pter      End:
128,785,694 bp from pter
Size:
86,904 bases      Orientation:
minus 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: 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. Interacts (released by dead or dying cells) with CLEC4E (By similarity)
Subcellular location: Nucleus
Secondary accessions: B7ZLM3 C9K0X9 Q4ZFV4 Q53T46 Q8WVW4 Q9H9G8
Alternative splicing: 3 isoforms:  Q9H0E3-1   Q9H0E3-2   Q9H0E3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SAP130: NX_Q9H0E3

Explore proteomics data for SAP130 at MOPED 

Post-translational modifications:

  • UniProtKB: Acetylated (Probable)
  • UniProtKB: Sumoylated with SUMO1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H0E3

  • SAP130 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SAP130 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001139400.1  NP_078821.2  

    ENSEMBL proteins: 
     ENSP00000259235   ENSP00000259234   ENSP00000411634   ENSP00000414593   ENSP00000350333  

    Human Recombinant Protein Products for SAP130: 
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    OriGene Protein Over-expression Lysate for SAP130
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SAP130 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030914STAGA complex IDA11564863

    SAP130 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for SAP130 

    Assay Products for SAP130: 
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    Cloud-Clone Corp. ELISAs for SAP130 
    Cloud-Clone Corp. CLIAs for SAP130


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR024137 His_deAcase_cplx_SAP130

    Graphical View of Domain Structure for InterPro Entry Q9H0E3

    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


    SAP130 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: 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 Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA11564863
    GO:0004402contributes to histone acetyltransferase activity IDA11564863
    GO:0005515protein binding ----
         
    SAP130 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SAP130:
     Decreased homologous recombina  Decreased viability of wild-ty 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Sap130):
     normal 

    SAP130 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SAP130 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SAP130

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SAP130 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SAP130 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAP130
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate SAP130:
    hsa-miR-1270 hsa-miR-548d-3p hsa-miR-1226 hsa-miR-620 hsa-miR-548v hsa-miR-642b hsa-miR-455-3p
    SwitchGear 3'UTR luciferase reporter plasmidSAP130 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Sirion Biotech Customized adenovirus for overexpression of SAP130

    Clone
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    OriGene ORF clones in mouse, rat for SAP130
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    GenScript: all cDNA clones in your preferred vector (see all 2): SAP130 (NM_024545)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAP130
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                         Customized lentivirus expression plasmids for stable overexpression of SAP130 

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    GenScript Custom overexpressing Cell Line Services for SAP130
    Search LifeMap BioReagents cell lines for SAP130
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAP130


    (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

    SuperPaths for SAP130 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes1.00
    2Development NOTCH1-mediated pathway for NF-KB activity modulation
    Transcription Sin3 and NuRD in transcription regulation0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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


    2 GeneGo (Thomson Reuters) Pathways for SAP130
        Transcription Sin3 and NuRD in transcription regulation
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes



    SAP130 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SAP130

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

    5/65 Interacting proteins for SAP130 (Q9H0E32, 3 ENSP000002592354) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3MINT-61720 I2D: score=3 
    H3F3AP842433, ENSP000003557784I2D: score=1 STRING: ENSP00000355778
    COPS5Q929053, ENSP000003505124I2D: score=1 STRING: ENSP00000350512
    CSN1S1P477103, ENSP000002468914I2D: score=1 STRING: ENSP00000246891
    CUL1Q136163, ENSP000003268044I2D: score=1 STRING: ENSP00000326804
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0043966histone H3 acetylation IDA11564863

    SAP130 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for SAP130 (SP130)

    Search CenterWatch for drugs/clinical trials and news about SAP130 / SP130

    (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 SAP130 gene (2 alternative transcripts): 
    NM_001145928.1  NM_024545.3  

    Unigene Cluster for SAP130:

    Sin3A-associated protein, 130kDa
    Hs.32995  [show with all ESTs]
    Unigene Representative Sequence: NM_001145928
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000259235 ENST00000259234(uc002tpq.1) ENST00000424298 ENST00000450957
    ENST00000357702(uc002tpn.2 uc010fmd.2 uc002tpp.2)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAP130
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate SAP130:
    hsa-miR-1270 hsa-miR-548d-3p hsa-miR-1226 hsa-miR-620 hsa-miR-548v hsa-miR-642b hsa-miR-455-3p
    SwitchGear 3'UTR luciferase reporter plasmidSAP130 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SAP130
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAP130
    Clone
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    OriGene clones in human, mouse for SAP130 (see all 12)
    OriGene ORF clones in mouse, rat for SAP130
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SAP130 (NM_024545)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAP130
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAP130
    Sirion Biotech Customized lentivirus for stable overexpression of SAP130 
                         Customized lentivirus expression plasmids for stable overexpression of SAP130 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SAP130
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SAP130
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAP130
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAP130

    Additional mRNA sequence: 

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

    11 DOTS entries:

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

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

    BU623477 BU626180 BM999957 BM974962 AA301138 BM981502 AI290041 CA417175 
    BM666139 BP353559 AL136833 AA292917 BM798273 CB242124 AA233443 CA951054 
    CA438415 BQ004698 BU855804 BQ430270 BE219109 NM_024545 T59421 BG682044 

    GeneLoc Exon Structure

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

    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:                                                                        


    ECgene alternative splicing isoforms for SAP130

    (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

    SAP130 expression in normal human tissues (normalized intensities)      SAP130 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGCCTTTT
    SAP130 Expression
    About this image


    SAP130 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
             sperm   
     
     Ovary (Reproductive System)
             oocyte   
     
     Gonad
             XY Germ Cells Testis Cord

    See SAP130 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAP130

    SOURCE GeneReport for Unigene cluster: Hs.32995

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

        SABiosciences Custom PCR Arrays for SAP130
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SAP130
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SAP130
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAP130
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAP130

    (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 SAP130 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sap1301 , 5 Sin3A associated protein1, 5 88.34(n)1
    93.83(a)1
      18 (17.81 cM)5
    2690031  NM_172965.21  NP_766553.11 
     316343835 
    chicken
    (Gallus gallus)
    Aves SAP1301 Sin3A-associated protein, 130kDa 78.51(n)
    88.32(a)
      424756  NM_001031301.1  NP_001026472.1 
    lizard
    (Anolis carolinensis)
    Reptilia SAP1306
    Sin3A-associated protein, 130kDa
    81(a)
    1 ↔ 1
    3(36385836-36407412)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152832 Xenopus laevis transcribed sequence with moderate similarity more 75.09(n)    CF286335.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sap130b1 Sin3A-associated protein b 64.56(n)
    63.58(a)
      335897  XM_002660802.1  XP_002660848.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sap1301 Sin3A-associated protein 130 38.69(n)
    25.56(a)
      39455  NM_168517.2  NP_729834.1 


    ENSEMBL Gene Tree for SAP130 (if available)
    TreeFam Gene Tree for SAP130 (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

    10/1952 SNPs in SAP130 are shown (see all 1952)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1142685681,2
    F--128698485(+) AGCAAT/CGTGTG 2 -- ds50011Minor allele frequency- C:0.01NA 120
    rs766645021,2
    C,F--128698568(+) TTATCC/TGCACT 2 -- ds50011Minor allele frequency- T:0.10WA 118
    rs1420252421,2
    --128698569(+) TATCCA/GCACTG 2 -- ds50010--------
    rs1473223561,2
    C--128698630(+) CCACTA/GTAGCA 2 -- ds50010--------
    rs2007630021,2
    --128698684(+) ACTTC-/AACA  
            
    AACAA
    2 -- ds50010--------
    rs799991351,2
    C,F--128698743(+) TTCAGT/AGAGGG 2 -- ds50011Minor allele frequency- A:0.06WA 118
    rs1407566961,2
    --128698825(+) ATTAAC/TGTCTG 2 -- ut310--------
    rs739556811,2
    C,F--128698927(+) ACTTAC/TGGTGT 2 -- ut311Minor allele frequency- T:0.50WA 2
    rs1474838141,2
    C--128698990(+) GATATA/TACAAT 2 -- ut310--------
    rs1157799721,2
    C,F--128699010(+) GAATGG/TTTTTT 2 -- ut311Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for SAP130 (128698791 - 128785694 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SAP130:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2720735CNV Deletion23290073
    esv2720732CNV Deletion23290073
    esv1357413CNV Deletion17803354
    esv2720733CNV Deletion23290073
    esv4100CNV Deletion18987735
    esv2720734CNV Deletion23290073
    esv2720731CNV Deletion23290073
    nsv508865CNV Insertion20534489
    nsv834367CNV Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609697    OMIM disorders: --

    4 diseases for SAP130:    About MalaCards
    xeroderma pigmentosum    acute lymphoblastic leukemia    lymphoblastic leukemia    leukemia


    SAP130 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SAP130
    Human Genome Epidemiology (HuGE) Navigator: SAP130 (1 document)

    Export disorders for SAP130 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 SAP130 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with SAP130)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of three new components of the mSin3A corepressor complex. (PubMed id 12724404)1, 2, 3, 9 Fleischer T.C....Ayer D.E. (2003)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    5. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)1, 2 Gocke C.B.... Kang J. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. GCN5 acetylates and regulates the stability of the onc oprotein E2A-PBX1 in acute lymphoblastic leukemia. (PubMed id 23044487)1 Holmlund T....Wallberg A.E. (2013)
    9. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (2013)
    10. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)

    (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: 79595 HGNC: 29813 AceView: SAP130 Ensembl:ENSG00000136715 euGenes: HUgn79595
    ECgene: SAP130 H-InvDB: SAP130

    (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 SAP130 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 SAP130 gene:
    Search GeneIP for patents involving SAP130

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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