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SAPS1 Gene

protein-coding   GIFtS: 54

GC19M060433
SAPS domain family, member 1
(Previous name: KIAA1115 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: KIAA1115)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
KIAA1115 1, 2, 3, 5
MGC138185 2
MGC142003 2
PP6R1 2, 3, 5
SAP190 1, 2
Descriptions
SAPS domain family member 1 3
SAPS domain family, member 1 2
External Ids
HGNC: 291951
Entrez Gene: 228702
UniProtKB: Q9UPN73
Ensembl: ENSG000001050637
Search outside databases for aliases for SAPS1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for SAPS1:
Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein
phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and
determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for
the protein phosphatase-6 catalytic subunit (PPP6C; MIM 300141) (Stefansson and Brautigan, 2006
[PubMed 16769727]).[supplied by OMIM]

UniProtKB/Swiss-Prot: SAPS1_HUMAN, Q9UPN7
Function: Regulatory subunit of protein phospatase 6 (PP6). May function as a scaffolding PP6
subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in
response to TNF-alpha

(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SAPS1 gene  

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.42

SAPS1 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 19         GeneLoc Exon Structure

GeneLoc location for GC19M060433:     (about GC identifiers)

Start:
60,432,959 bp from pter
End:
60,462,175 bp from pter
Size:
29,217 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011109.15  
(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)
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UniProtKB/Swiss-Prot: SAPS1_HUMAN, Q9UPN7 (See protein sequence)
Recommended Name: Serine/threonine-protein phosphatase 6 regulatory subunit 1  
Size: 943 amino acids; 103139 Da
Subunit: Protein phospatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed of
the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain
containing regulatory subunit (ARS). Interacts with PPP6C and NFKBIE. Interacts with ANKRD28,
ANKRD44 and ANKRD52
Subcellular location: Cytoplasm
Secondary accessions: Q2M2H3 Q504V2 Q6NVJ6 Q9BU97
Alternative splicing: 2 isoforms:  Q9UPN7-1   Q9UPN7-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_055746.3  

    ENSEMBL proteins: 
    ENSP00000321013 


    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 (SAPS1)
    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:0005737 cytoplasm IEA--
    About this table

    Antibodies for SAPS1: 
    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 (SAPS1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibody for SAPS1

    Assays for SAPS1: 
    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

    1 InterPro domain/family:
     IPR007587 SAPS


       GeneDecks  SAPS1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9UPN7

    ProtoNet protein and cluster: Q9UPN7

    1 Blocks protein family: IPB007587 SIT4 phosphatase-associated protein

    UniProtKB/Swiss-Prot: SAPS1_HUMAN, Q9UPN7
    Similarity: Belongs to the SAPS 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 (SAPS1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014931

                  Applied Biosystems Silencer® siRNAs for SAPS1

                  Sigma-Aldrich siRNA for SAPS1  
                         Sigma-Aldrich shRNA for SAPS1  
                         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_014931
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_014931
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_014931 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_014931

    UniProtKB/Swiss-Prot: SAPS1_HUMAN, Q9UPN7
    Function: Regulatory subunit of protein phospatase 6 (PP6). May function as a scaffolding PP6
    subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in
    response to TNF-alpha

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI16769727 18186651
    About this table

    (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



    5/8 Interacting proteins for SAPS1 (Q9UPN71, 2 ENSP000003210133) via UniProtKB, MINT, and/or STRING (see all 8 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP6CO007431, ENSP000003626483EBI-359745, EBI-359751 STRING (score=.978)
    ANKRD28O150841, ENSP000003732873EBI-359745, EBI-359567 STRING (score=.975)
    ANKRD44Q8N8A21, ENSP000003315163EBI-359745, EBI-1245329 STRING (score=.879)
    NFKBIEO002211, 2, ENSP000002750153EBI-359745, EBI-355098 MINT-47946 EBI-359745, EBI-355098 MINT-47946 STRING (score=.978)
    ANKRD52Q8NB461EBI-359745, EBI-1996119
    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 SAPS1

    (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 (SAPS1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014931

                  Sigma-Aldrich siRNA for SAPS1  
                         Sigma-Aldrich shRNA for SAPS1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_014931  

    REFSEQ mRNAs for SAPS1 gene: 

    NM_014931.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_014931  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_014931
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_014931
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_014931 

    Additional cDNA sequence: 

    AB029038.2 AK297152.1 BC002799.2 BC007629.1 BC068014.1 BC094753.1 

    10 DOTS entries:

    DT.446411  DT.100676429  DT.100043341  DT.121489835  DT.92448959  DT.92448931  DT.95341394  DT.95344034 
    DT.100649295  DT.95343948 

    24/362 AceView cDNA sequences (see all 362 ):

    BQ226010 CF125931 BM684816 CO246210 AW024315 BM786186 BQ888296 BQ920736 
    CN479984 BQ937776 BU149162 BC068014 CF126033 AW519178 AK127755 BF981649 
    CF122114 BM929765 BC007629 BU541947 BE513401 BQ053475 BQ063473 BM702170 

    highest scoring ESTs for SAPS1:

    AB029038 BG772019 CB960580 CN371237 CN371238 CN371239 CN371240 CN371241 CN371242 CN371243 

    Unigene Cluster for SAPS1:

    SAPS domain family, member 1
    Hs.515610  [show with all ESTs]
    Unigene Representative Sequence: AB029038


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000327021  
    (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

    SAPS1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SAPS1

    1 / 2 / 3

    3 probe-sets matching SAPS1 gene


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

    36862_at2, 3 U95-A 1 0.94 1.00 1.00 1.00 AB029038 0.80 0.88 0.84 1

    209229_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC002799 0.60 0.83 0.73 1

    209229_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GGGGACGGCC

    SOURCE GeneReport for Unigene cluster: Hs.515610

    Expression variation in blood from EXPOLDB for SAPS1

    UniProtKB/Swiss-Prot: SAPS1_HUMAN, Q9UPN7
    Tissue specificity: Ubiquitous with higher expression in testis

    (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 SAPS1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SAPS11   -- SAPS domain family, member 1 87.12(n)
    89.05(a)
    484298  XM_541414.2  XP_541414.2 
    chimpanzee
    (Pan troglodytes)
    SAPS11   -- SAPS domain family, member 1 98.95(n)
    99.07(a)
    735723  XM_001135264.1  XP_001135264.1 
    cow
    (Bos taurus)
    SAPS11   -- SAPS domain family, member 1 86.39(n)
    86.27(a)
    618538  XM_870871.2  XP_875964.2 
    rat
    (Rattus norvegicus)
    Saps11   -- SAPS domain family, member 1 83.65(n)
    86.44(a)
    361502  XM_341781.3  XP_341782.3 
    mouse
    (Mus musculus)
    Saps11, 5 75
    SAPS domain family, member 11, 5 83.92(n)1
    86.33(a)1
    2438191  NM_172894.21  NP_766482.21 
     AI8362195  AK0511205  (see all 13)
    About this table        Species with no ortholog for SAPS1

    ENSEMBL Gene Tree for SAPS1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for SAPS1 gene
    SAPS32  SAPS22  

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


    10/117 NCBI SNPs in SAPS1 are shown (see all 117 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 55)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs118807811,2
    A,C60462996(+) accagC/Gctggg 1 -- ng310--------
    --
    rs116729471,2
    A,C60462606(+) TTCCGC/TCCGGC 1 -- ng310--------
    --
    rs116694681,2
    A,C60462641(+) CTCAGA/GGGCCC 1 -- ng310--------
    --
    rs118807581,2
    A,C60462900(+) AGACTC/GCGAAT 1 -- ng310--------
    rs40729201,2
    C60462300(-) CCGGGA/CGCACG 1 -- ng310--------
    rs37459201,2
    C,F,H60448792(-) GGTGCT/CGATGA 1 A/A syn1 ese38Minor allele frequency- C:0.13EA MN EU WA NA 2236
    rs75077921,2
    H60445348(+) CACCTC/AGGCCT 1 P/P syn1 ese34Minor allele frequency- A:0.00EU EA WA 420
    rs65099381,2
    A,C,F,H60455221(+) ctccaC/Actatg 1 -- int17Minor allele frequency- A:0.02EU EA WA NA 516
    rs38486081,2
    A,C,F,H60443858(-) AGTGCA/GCACAC 1 -- int14Minor allele frequency- G:0.05EU EA WA 416
    rs48064711,2
    A,C,F,H60451769(+) TCCAAC/TGCCCT 1 -- int18Minor allele frequency- N:0.01EU EA WA NA 608
    About this table

    HapMap Linkage Disequilibrium images for SAPS1 (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: 610875

    (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

    9 PubMed articles for SAPS1 gene:
    (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: 22870 HGNC: 29195 AceView: MGC30208andKIAA1115 Ensembl:ENSG00000105063 euGenes: HUgn22870
    ECgene: SAPS1 H-InvDB: SAPS1
    (According to HUGE)
    About This Section

    HUGE: KIAA1115
    (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 SAPS1:
     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 SAPS1-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 SAPS1 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for SAPS1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for SAPS1

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