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

SHKBP1 Gene

protein-coding   GIFtS: 49
GCID: GC19P041082

SH3KBP1 binding protein 1

 Explore 4 diseases affiliated with
SHKBP1 via our new
 Human Malady Compendium 
Biological research products
for SHKBP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SH3KBP1 Binding Protein 11 2
Sb11 2
PP2031
SH3KBP1-Binding Protein 12

External Ids:    HGNC: 192141   Entrez Gene: 927992   Ensembl: ENSG000001604107   UniProtKB: Q8TBC33   

Export aliases for SHKBP1 gene to outside databases

Previous GC identifers: GC19P045777 GC19P037517


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SHKBP1 gene promoter:
         HSF1 (long)   XBP-1   Egr-4   Roaz   GATA-1   GATA-2   Egr-2   Pax-3   HSF1short   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSHKBP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SHKBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHKBP1


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

SHKBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHKBP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P041082:  view genomic region     (about GC identifiers)

Start:
41,082,757 bp from pter      End:
41,097,305 bp from pter
Size:
14,549 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SHKB1_HUMAN, Q8TBC3 (See protein sequence)
Recommended Name: SH3KBP1-binding protein 1  
Size: 707 amino acids; 76344 Da
Subunit: Interacts with SH3KBP1 (By similarity)
Secondary accessions: Q8N2I6 Q8WY93 Q96IB8
Alternative splicing: 2 isoforms:  Q8TBC3-1   Q8TBC3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SHKBP1: NX_Q8TBC3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TBC3

  • SHKBP1 Protein expression data from MOPED and PaxDb:    About this image 
    SHKBP1 Protein Expression
    REFSEQ proteins: NP_612401.2  
    ENSEMBL proteins: 
     ENSP00000291842  

    Human Recombinant Protein Products for SHKBP1: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SHKBP1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011333 BTB/POZ_fold
     IPR001680 WD40_repeat
     IPR003131 T1-type_BTB
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8TBC3

    ProtoNet protein and cluster: Q8TBC3

    1 Blocks protein family: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: SHKB1_HUMAN, Q8TBC3
    Similarity: Belongs to the KCTD3 family
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 5 WD repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    SHKBP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SHKBP1:
     Decreased viability with pacli  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SHKBP1 

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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHKBP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SHKBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/15 Interacting proteins for SHKBP1 (Q8TBC32, 3 ENSP000002918424) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL7A1Q023882, 3, ENSP000003323714MINT-64034 I2D: score=4 STRING: ENSP00000332371
    SH3KBP1Q96B973, ENSP000003809214I2D: score=2 STRING: ENSP00000380921
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    COPS6Q7L5N13, ENSP000003041024I2D: score=2 STRING: ENSP00000304102
    GRB2P629933, ENSP000003390074I2D: score=4 STRING: ENSP00000339007
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051260protein homooligomerization IEA--

    SHKBP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 SHKBP1
    Search CenterWatch for drugs/clinical trials and news about SHKBP1 / SHKB1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SHKBP1 gene: 
    NM_138392.3  

    Unigene Cluster for SHKBP1:

    SH3KBP1 binding protein 1
    Hs.26506  [show with all ESTs]
    Unigene Representative Sequence: AF258553
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000291842(uc002oob.3 uc002ooc.3 uc010xvl.1 uc002ooe.3 uc010xvm.2 uc010xvn.2)


    miRNA
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    hsa-miR-34a hsa-miR-34c-5p hsa-miR-328 hsa-miR-449b hsa-miR-802 hsa-miR-449a hsa-miR-1291
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    Additional cDNA sequence: 

    AF258553.1 AK075057.1 AK123695.1 AK297006.1 AK300808.1 AK300819.1 AK312748.1 AY007117.1 
    BC007653.1 BC022855.1 

    17 DOTS entries:

    DT.444049  DT.100804541  DT.100828101  DT.97850065  DT.100828102  DT.121501884  DT.121501908  DT.95347839 
    DT.100649702  DT.95141582  DT.100834578  DT.101984412  DT.102832206  DT.121501911  DT.95141586  DT.95141625 
    DT.95141627 

    24/324 AceView cDNA sequences (see all 324):

    BU163512 BF770014 BU145282 BC007653 BQ691211 BF980715 BQ278787 CR598538 
    BQ227488 AA928027 CB120743 BX401550 BX372492 AF258553 CB152174 BF769692 
    BQ070173 AL523486 CK823869 BX642140 BI524030 T27113 BQ072852 BM673871 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for SHKBP1 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^
    SP1:                                -                             -     -           -           -                                                               
    SP2:                                -                             -     -           -           -                                         -     -               
    SP3:                                                              -     -           -           -                                                               
    SP4:                                -                             -                 -           -                                                               
    SP5:                                -                             -     -                       -                                                               

    ExUns: 13 ^ 14 ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c
    SP1:        -     -                                                                           
    SP2:        -     -                                                                           
    SP3:        -     -                                                                           
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for SHKBP1

    (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

    SHKBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGCCTTGGG
    SHKBP1 Expression
    About this image
    See SHKBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SHKBP1

    SOURCE GeneReport for Unigene cluster: Hs.26506
        SABiosciences Custom PCR Arrays for SHKBP1

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHKBP1

    (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 SHKBP1 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shkbp11 , 5 Sh3kbp1 binding protein 11, 5 85.8(n)1
    93.18(a)1
      7 (15.88 cM)5
    1921921  NM_138676.21  NP_619617.21 
     273421335 
    lizard
    (Anolis carolinensis)
    Reptilia SHKBP16
    --
    73(a)
    1 ↔ 1
    LGf(1989150-1998598)
    zebrafish
    (Danio rerio)
    Actinopterygii shkbp11 SH3KBP1 binding protein 1 69.7(n)
    75.19(a)
      562395  XM_001920900.3  XP_001920935.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG94676
    --
    45(a)
    1 → many
    3R(5623491-5626773)
    worm
    (Caenorhabditis elegans)
    Secernentea T23B12.66
    Protein T23B12.6
    43(a)
    possible ortholog
    V(8457592-8460398)


    ENSEMBL Gene Tree for SHKBP1 (if available)
    TreeFam Gene Tree for SHKBP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SHKBP1 gene
    KCTD32  
    1 SIMAP similar gene for SHKBP1 using alignment to 17 protein entries:     SHKB1_HUMAN (see all proteins):
    KCTD3

    SHKBP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/322 NCBI SNPs in SHKBP1 are shown (see all 322    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs169743651,2
    C,F,H--41082868(+) GTCATT/CCATCT 2 /I syn118Minor allele frequency- C:0.16MN EA NS NA 2352
    rs1870758401,2
    C--41082932(+) GGGCGA/GGAAGC 1 -- int10--------
    rs1909385251,2
    --41082966(+) TGGGGA/GAATCC 1 -- int10--------
    rs1132964941,2
    C--41082997(+) CGCCCG/CCCCCC 1 -- int11Minor allele frequency- C:0.50WA 2
    rs2012432511,2
    --41083093(+) CTCACA/CCGCTC 1 -- int10--------
    rs2008132671,2
    --41083134(+) CCGCCC/TAGATT 1 -- int10--------
    rs1124983241,2
    --41083251(+) GACCTC/AATATC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1166722081,2
    C,F--41083306(+) GTCTTC/TTGAGC 2 L syn11Minor allele frequency- T:0.02WA 118
    rs22906821,2
    C,F,H--41083444(+) ATCCTC/TTGCCC 1 -- int122Minor allele frequency- T:0.26NS EA NA CSA WA EU 3701
    rs1137469011,2
    C--41083462(+) CCGCAA/C/GATCTT 1 -- spa11CSA 1

    HapMap Linkage Disequilibrium report for SHKBP1 (41082757 - 41097305 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SHKBP1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SHKBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for SHKBP1

    (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.)
    About This Section

    SHKBP1 for disorders           About GeneDecksing

    4 diseases for SHKBP1:    About MalaCards
    korean hemorrhagic fever    yellow fever    histoplasmosis    ovarian cancer

    1 disease from the University of Copenhagen DISEASES database for SHKBP1:
    Korean hemorrhagic fever

    Export disorders for SHKBP1 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 SHKBP1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with SHKBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SETA is a multifunctional adapter protein with three SH3 domains that binds Grb2, Cbl, and the novel SB1 proteins. (PubMed id 11152963)1, 3 Borinstein S.C....Bogler O. (2000)
    2. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. SH3KBP1-binding protein 1 prevents epidermal growth f actor receptor degradation by the interruption of c-Cbl-CIN85 complex. (PubMed id 21830225)1 Feng L....Geng J.G. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    7. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    8. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    9. Proteins recruited by SH3 domains of Ruk/CIN85 adaptor identified by LC-MS/MS. (PubMed id 19531213)1 Havrylov S....Redowicz M.J. (2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92799 HGNC: 19214 AceView: LOC92799 Ensembl:ENSG00000160410 euGenes: HUgn92799
    ECgene: SHKBP1 H-InvDB: SHKBP1

    (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 SHKBP1 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 SHKBP1 gene:
    Search GeneIP for patents involving SHKBP1

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



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