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SAP18 Gene

protein-coding   GIFtS: 63
GCID: GC13P021714

Sin3A-Associated Protein, 18kDa

(Previous names: sin3A-associated protein, 18kDa)
  See SAP18-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sin3A-Associated Protein, 18kDa1 2     Cell Growth Inhibiting Protein 382
Cell Growth-Inhibiting Gene 38 Protein2 3     Cell Growth-Inhibiting Protein 382
Sin3-Associated Polypeptide P182 3     Histone Deacetlyase Complex Subunit SAP182
18 KDa Sin3-Associated Polypeptide2 3     Histone Deacetylase Complex Subunit SAP182
2HOR02022 3     Sin3-Associated Polypeptide, 18 KDa2
SAP18P2     Sin3-Associated Polypeptide, P182

External Ids:    HGNC: 105301   Entrez Gene: 102842   Ensembl: ENSG000001504597   OMIM: 6029495   UniProtKB: O004223   

Export aliases for SAP18 gene to outside databases

Previous GC identifers: GC13P019694 GC13P015694 GC13P020644 GC13P019512 GC13P020612 GC13P002516


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SAP18 Gene:
Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and
deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the
histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides.
This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to
the promoter. A pseudogene has been identified on chromosome 2. (provided by RefSeq, Dec 2008)

GeneCards Summary for SAP18 Gene:
SAP18 (Sin3A-associated protein, 18kDa) is a protein-coding gene. Diseases associated with SAP18 include pallister-hall syndrome. GO annotations related to this gene include transcription corepressor activity.

UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422
Function: Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional
repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone
proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at
splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral
nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or
during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a
sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process
and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit mRNA
processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after
induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes);
specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the
established EJC assembly and function

Gene Wiki entry for SAP18 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the SAP18 gene promoter:
         AhR   SRF   TBP   SRF (504 AA)   FOXD3   GATA-1   TFIID   HOXA5   COMP1   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSAP18 promoter sequence
   Search Chromatin IP Primers for SAP18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SAP18


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

Entrez Gene cytogenetic band: 13q12.11   Ensembl cytogenetic band:  13q12.11   HGNC cytogenetic band: 13q12.11

SAP18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAP18 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P021714:  view genomic region     (about GC identifiers)

Start:
21,714,653 bp from pter      End:
21,723,224 bp from pter
Size:
8,572 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422 (See protein sequence)
Recommended Name: Histone deacetylase complex subunit SAP18  
Size: 153 amino acids; 17561 Da
Subunit: Found in a mRNA splicing-dependent exon junction complex (EJC). Component of the heterotrimeric ASAP
(apoptosis- and splicing-associated protein) and PSAP complexes consisting of RNPS1, SAP18 and either ACIN1 or
PNN, respectively; the ASAP and PSAP complexes probably are formed mutually exclusive. For the ASAP complex, the
association of SAP18 seems to require a preformed RNPS1:ACIN1 complex. Forms a complex with SIN3A and HDAC1.
Interacts with SUFU
1 PDB 3D structure from and Proteopedia for SAP18:
2HDE (3D)    
Secondary accessions: B2R494 Q2TTR4 Q6IAW9 Q8N606 Q9UF14

Explore the universe of human proteins at neXtProt for SAP18: NX_O00422

Explore proteomics data for SAP18 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys74, Lys114
  • Modification sites at PhosphoSitePlus

  • See SAP18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005861.2  
    ENSEMBL proteins: 
     ENSP00000371973   ENSP00000475925   ENSP00000475435   ENSP00000391846   ENSP00000475358  
    Reactome Protein details: O00422

    SAP18 Human Recombinant Protein Products:

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    Novus Biologicals SAP18 Proteins
    Novus Biologicals SAP18 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SAP18
    Cloud-Clone Corp. Proteins for SAP18

     
    Search eBioscience for Proteins for SAP18 

    SAP18 Antibody Products:

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    Novus Biologicals SAP18 Antibodies
    Abcam antibodies for SAP18
    Cloud-Clone Corp. Antibodies for SAP18
    Search ThermoFisher Antibodies for SAP18
    LSBio Antibodies in human, mouse, rat for SAP18

    SAP18 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SAP18
    Cloud-Clone Corp. CLIAs for SAP18
    Search eBioscience for ELISAs for SAP18 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR010516 SAP18
     IPR017250 Hist_deAcase_cplx_SAP18

    Graphical View of Domain Structure for InterPro Entry O00422

    ProtoNet protein and cluster: O00422

    1 Blocks protein domain: IPB010516 Sin3 associated polypeptide p18

    UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422
    Similarity: Belongs to the SAP18 family


    Find genes that share domains with SAP18           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAP18_HUMAN, O00422
    Function: Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional
    repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone
    proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at
    splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral
    nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or
    during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a
    sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process
    and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit mRNA
    processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after
    induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes);
    specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the
    established EJC assembly and function

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity TAS9150135
    GO:0005515protein binding IPI9150135
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with SAP18           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SAP18
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SAP18

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SAP18
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SAP18

    miRNA
    Products:
        
    miRTarBase miRNAs that target SAP18:
    hsa-mir-324-5p (MIRT043131), hsa-mir-877-5p (MIRT037310), hsa-mir-196a-5p (MIRT048161), hsa-mir-324-3p (MIRT043002), hsa-mir-484 (MIRT041858)

    Block miRNA regulation of human, mouse, rat SAP18 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SAP18 (see all 11):
    hsa-miR-4328 hsa-miR-586 hsa-miR-578 hsa-miR-1279 hsa-miR-3158-3p hsa-miR-3154 hsa-miR-466 hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidSAP18 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SAP18
    Predesigned siRNA for gene silencing in human, mouse, rat SAP18

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SAP18

    Clone
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    OriGene clones in human, mouse for SAP18 (see all 9)
    OriGene ORF clones in mouse, rat for SAP18
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SAP18 (NM_005870)
    Sino Biological Human cDNA Clone for SAP18
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAP18
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAP18

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SAP18
    Browse ESI BIO Cell Lines and PureStem Progenitors for SAP18 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAP18


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SAP18_HUMAN, O00422: Nucleus. Cytoplasm. Nucleus speckle. Note=Shuttles between the nucleus and the cytoplasm.
    Colocalizes with ACIN1 and SRSF2 in nuclear speckles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane4
    cytosol2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex TAS9150135
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane ----

    Find genes that share ontologies with SAP18           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SAP18 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Development NOTCH1 mediated pathway for NF KB activity modulation
    Transcription Sin3 and NuRD in transcription regulation0.35
    2Hedgehog Signaling Pathway
    Hedgehog Signaling Pathway0.32
    3Macrophage Differentiation and Growth Inhibition by METS
    DNA Methylation and Transcriptional Repression0.30
    4Transcription Ligand Dependent Transcription of Retinoid Target genes
    Transcription Ligand Dependent Transcription of Retinoid Target genes
    5Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class I


    Find genes that share SuperPaths with SAP18           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SAP18
        DNA Methylation and Transcriptional Repression

    2 GeneGo (Thomson Reuters) Pathways for SAP18
        Transcription Sin3 and NuRD in transcription regulation
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    5 BioSystems Pathways for SAP18
        Hedgehog Signaling Pathway
    Regulation of nuclear SMAD2/3 signaling
    Signaling events mediated by HDAC Class I
    Regulation of Telomerase
    Hedgehog signaling events mediated by Gli proteins


    1 Reactome Pathway for SAP18
        NoRC negatively regulates rRNA expression


    2 Kegg Pathways  (Kegg details for SAP18):
        RNA transport
    mRNA surveillance pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SAP18
    Interactions:

        GeneGlobe Interaction Network for SAP18

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

    Selected Interacting proteins for SAP18 (O004221, 2, 3 ENSP000003719734) via UniProtKB, MINT, STRING, and/or I2D (see all 130)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBM39Q144982, 3, ENSP000002533634MINT-8335341 I2D: score=1 STRING: ENSP00000253363
    TADA3O755282, 3MINT-63206 I2D: score=5 
    HIST2H3AQ71DI33I2D: score=1 
    HIST2H3CQ71DI33I2D: score=1 
    HIST2H3DQ71DI33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000381regulation of alternative mRNA splicing, via spliceosome IMP--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9150135
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing IEA--

    Find genes that share ontologies with SAP18           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SAP18



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SAP18 gene: 
    NM_005870.4  

    Unigene Cluster for SAP18:

    Sin3A-associated protein, 18kDa
    Hs.524899  [show with all ESTs]
    Unigene Representative Sequence: AK126385
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382533(uc001uns.3) ENST00000607003 ENST00000485646 ENST00000492245
    ENST00000450573 ENST00000467636 ENST00000471009
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SAP18 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SAP18 (see all 11):
    hsa-miR-4328 hsa-miR-586 hsa-miR-578 hsa-miR-1279 hsa-miR-3158-3p hsa-miR-3154 hsa-miR-466 hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidSAP18 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SAP18
    Predesigned siRNA for gene silencing in human, mouse, rat SAP18
    Clone
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    OriGene ORF clones in mouse, rat for SAP18
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SAP18 (NM_005870)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAP18
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAP18
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SAP18
    OriGene qSTAR qPCR primer pairs in human, mouse for SAP18
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SAP18
      QuantiTect SYBR Green Assays in human, mouse, rat SAP18
      QuantiFast Probe-based Assays in human, mouse, rat SAP18

    Additional mRNA sequence: 

    AF153608.1 AK126385.1 AK311748.1 AY550970.1 BC030836.1 CR457035.1 DQ866754.1 U78303.1 
    U96915.1 

    Selected DOTS entries (see all 28):

    DT.100858998  DT.100858990  DT.92452976  DT.100858993  DT.100039100  DT.91707316  DT.100039099  DT.75174980 
    DT.120783842  DT.100858987  DT.102824798  DT.97790728  DT.100769059  DT.100858986  DT.100858997  DT.120784024 
    DT.120784125  DT.92064862  DT.97860042  DT.100759574  DT.100858999  DT.120783902  DT.120784107  DT.86840475 

    Selected AceView cDNA sequences (see all 586):

    BM543417 CA428923 CR608964 AW580420 CB114702 BM679975 CB113987 BM826754 
    CR624098 AU119552 AW137451 AA743386 H88057 AW293812 BM818919 CB114120 
    BP374934 AA346556 CR625423 AA316007 BM692727 AW951925 NM_005870 BU784608 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SAP18    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:                    -           -                           
    SP2:                    -     -     -                           
    SP3:                    -     -     -     -                     
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for SAP18

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SAP18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACCATATT
    SAP18 Expression
    About this image


    SAP18 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    SAP18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SAP18 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524899

    UniProtKB/Swiss-Prot: SAP18_HUMAN, O00422
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for SAP18
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SAP18
    OriGene qSTAR qPCR primer pairs in human, mouse for SAP18
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SAP18
    QuantiTect SYBR Green Assays in human, mouse, rat SAP18
    QuantiFast Probe-based Assays in human, mouse, rat SAP18
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAP18

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SAP18 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sap181 , 5 Sin3-associated polypeptide 181, 5 90.31(n)1
    97.67(a)1
      14 (30.51 cM)5
    202201  NM_009119.31  NP_033145.21 
     577981805 
    chicken
    (Gallus gallus)
    Aves SAP181 Sin3A-associated protein, 18kDa 82.79(n)
    98.69(a)
      374206  NM_204312.1  NP_989643.1 
    lizard
    (Anolis carolinensis)
    Reptilia SAP186
    Sin3A-associated protein, 18kDa
    95(a)
    1 ↔ 1
    3(187765115-187770004)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.86092 Xenopus laevis transcribed sequence with strong similarity more 76.77(n)    BJ071584.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059482.12   -- 75.68(n)   393693  BC059482.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bin11 , 3 negative regulation of transcription
    from Pol more3
    Bicoid interacting protein 11
    57(a)3
    58.28(n)1
    59.18(a)1
      89B123
    419651  NM_079653.21  NP_524377.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C16C10.43
    CELE_C16C10.41
    CELE_C16C10.41 54(a)3
    58.2(n)1
    55.56(a)1
      III(4243139-4243864)3
    1755341  NM_065432.41  NP_497833.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAP181 SAP18 55.56(n)
    55.04(a)
      819172  NM_130126.3  NP_566050.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01220001 Os02g0122000 59.6(n)
    59.32(a)
      4328127  NM_001052258.1  NP_001045723.1 


    ENSEMBL Gene Tree for SAP18 (if available)
    TreeFam Gene Tree for SAP18 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SAP18 gene

    Find genes that share paralogs with SAP18           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for SAP18
    PGOHUM00000237469 PGOHUM00000241036 PGOHUM00000259819 PGOHUM00000260083


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SAP18 (see all 249)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1391665201,2
    C--21712666(+) TCTTTG/TAGTAT 1 -- us2k10--------
    rs1135427881,2
    F--21712708(+) CATACA/CGTAAA 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs786493601,2
    C,F--21712806(+) TGCTTT/CATAGT 1 -- us2k11Minor allele frequency- C:0.14WA 118
    rs1815101781,2
    --21712808(+) CTTTAC/TAGTAT 1 -- us2k10--------
    rs789339071,2
    F--21712826(+) TTGATT/GGGTAG 1 -- us2k11Minor allele frequency- G:0.08WA 118
    rs766977861,2
    F--21712839(+) TTATTG/TCTGTC 1 -- us2k12Minor allele frequency- T:0.05CSA WA 120
    rs1145539021,2
    F--21712874(+) GTCCTA/CCTGTT 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs1431387331,2
    --21712922(+) TGAACA/GATATA 1 -- us2k10--------
    rs1474526801,2
    --21712926(+) CAATAC/TAGCTA 1 -- us2k10--------
    rs619503311,2
    C,F--21712984(+) TAGGGT/CAAGTA 1 -- us2k16Minor allele frequency- C:0.12NA CSA EA 248

    HapMap Linkage Disequilibrium report for SAP18 (21714653 - 21723224 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SAP18:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1278877CNV Deletion17803354
    nsv899878CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SAP18
    DNA2.0 Custom Variant and Variant Library Synthesis for SAP18

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602949    OMIM disorders: --

    1 disease for SAP18:    
    About MalaCards
    pallister-hall syndrome

    1 disease from the University of Copenhagen DISEASES database for SAP18:
    Pallister-Hall syndrome

    Find genes that share disorders with SAP18           About GenesLikeMe


    Export disorders for SAP18 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)
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    PubMed articles for SAP18 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with SAP18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Histone deacetylases and SAP18, a novel polypeptide, are components of a human Sin3 complex. (PubMed id 9150135)1, 2, 3, 9 Zhang Y.... Reinberg D. (Cell 1997)
    2. Structure of SAP18: a ubiquitin fold in histone deacetylase complex assembly. (PubMed id 17002296)1, 2, 9 McCallum S.A....Fairbrother W.J. (Biochemistry 2006)
    3. Human SAP18 mediates assembly of a splicing regulatory multiprotein complex via its ubiquitin-like fold. (PubMed id 20966198)1, 2 Singh K.K....Schwerk C. (RNA 2010)
    4. Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core. (PubMed id 16314458)1, 2 Tange T.O.... Moore M.J. (RNA 2005)
    5. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    6. 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. (Genome Res. 2004)
    7. ASAP, a novel protein complex involved in RNA processing and apoptosis. (PubMed id 12665594)1, 2 Schwerk C....Reinberg D. (Mol. Cell. Biol. 2003)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10284 HGNC: 10530 AceView: SAP18 Ensembl:ENSG00000150459 euGenes: HUgn10284
    ECgene: SAP18 Kegg: 10284 H-InvDB: SAP18

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SAP18 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SAP18 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SAP18 gene:
    Search GeneIP for patents involving SAP18

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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