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

SH3KBP1 Gene

protein-coding   GIFtS: 59
GCID: GC0XM019552

SH3-Domain Kinase Binding Protein 1

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(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
SH3-Domain Kinase Binding Protein 11 2     HSB12
CIN852 3 5     MIG182
Cbl-Interacting Protein Of 85 KDa2 3     C-Cbl-Interacting Protein2
Human Src Family Kinase-Binding Protein 12 3     Migration-Inducing Gene 182
CD2BP32 3     SH3 Domain-Containing Kinase-Binding Protein 12
HSB-12 3     Src Family Kinase-Binding Protein 12
CD2-Binding Protein 32 3     Src-Related Kinase Binding Protein-12
GIG102     

External Ids:    HGNC: 138671   Entrez Gene: 300112   Ensembl: ENSG000001470107   OMIM: 3003745   UniProtKB: Q96B973   

Export aliases for SH3KBP1 gene to outside databases

Previous GC identifers: GC0XM019030 GC0XM018219 GC0XM018751 GC0XM018914 GC0XM019313 GC0XM019462 GC0XM017300


(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 SH3KBP1 Gene:
This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region
and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been
implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in
the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript
variants.(provided by RefSeq, May 2010)

GeneCards Summary for SH3KBP1 Gene: 
SH3KBP1 (SH3-domain kinase binding protein 1) is a protein-coding gene. Diseases associated with SH3KBP1 include parkinson disease 1, and mast-cell leukemia, and among its related super-pathways are Signaling by FGFR and Immune System. GO annotations related to this gene include protein binding and SH3 domain binding. An important paralog of this gene is CD2AP.

UniProtKB/Swiss-Prot: SH3K1_HUMAN, Q96B97
Function: Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation
of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and
MET/hepatocyte growth factor receptor, through a association with CBL and endophilins. The association with CBL,
and thus the receptor internalization, may inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in
regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity
by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion;
promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response
via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor
mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in
the control of cell shape and migration

Gene Wiki entry for SH3KBP1 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_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH3KBP1 gene promoter:
         Bach1   GCNF   RelA   Nkx2-5   E47   IRF-2   GCNF-1   COMP1   Hand1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SH3KBP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SH3KBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH3KBP1


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

Entrez Gene cytogenetic band: Xp22.1-p21.3   Ensembl cytogenetic band:  Xp22.12   HGNC cytogenetic band: Xp22.1-p21.3

SH3KBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3KBP1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM019552:  view genomic region     (about GC identifiers)

Start:
19,552,083 bp from pter      End:
19,905,744 bp from pter
Size:
353,662 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: SH3K1_HUMAN, Q96B97 (See protein sequence)
Recommended Name: SH3 domain-containing kinase-binding protein 1  
Size: 665 amino acids; 73126 Da
Subunit: Can self-associate and form homotetramers. Interacts with CD2, F-actin capping protein, PIK3R3, GRB2,
EGFR, MET, BLNK, MAP3K4, PDCD6IP, SPRY2, ARHGAP17, ARHGAP27, MAGI2, CRK, BCAR1, SOS1, ASAP1, ARAP3, HIP1R, SYNJ2,
INPP5D and STAP1. Interacts with CBL and CBLB, but does not interact with CBLC. Two molecules of SH3KBP1 seem to
bind through their respective SH3 1 domain to one molecule of CBLB. The interaction with CBL or CBLB and EGFR is
increased upon EGF stimulation. The interaction with CBL is attenuated by PDCD6IP. Interacts through its
proline-rich region with the SH3 domain of endophilins SH3GL1, SH3GL2 and SH3GL3. The SH3KBP1-endophilin complex
seems to associate with a complex containing the phosphorylated receptor (EGFR or MET) and phosphorylated CBL.
Probably associates with ASAP1 and phosphorylated EGFR. Probably part of a complex consisting of at least
SH3KBP1, ASAP1 and ARAP3. Interacts with focal adhesion kinases PTK2/FAK1 AND PTK2B/PYK2, probably as a dimer.
Interacts with DAB2 and probably associates with chathrin through its interaction with DAB2. Part of a complex
consisting of SH3KBP1, DAB2, and clathrin heavy chain. DAB2 and clathrin dissociate from SH3KBP1 following growth
factor treatment, enabling interaction with CBL. Interacts with DDN and probably associates with MAGI2 through
its interaction with DDN. Interacts with the SH3 domains of SRC tyrosine-protein kinases SRC, LCK, LYN, FGR, FYN
and HCK. Interacts with TRADD, BIRC2, TRAF1, TRAF2 and TNFR1, and the association with a TNFR1-associated complex
upon stimulation with TNF-alpha seems to be mediated by SRC. Probably interacts with SH3KBP1
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cell
junction, synapse, synaptosome. Cell junction, focal adhesion (By similarity). Note=Localized in endocytic
vesicles containing clustered receptors. Colocalizes with ASAP1 in vesicular structures. Colocalized with actin
microfilaments and focal adhesions (By similarity). Colocalized with MAGI2 in synaptosomes (By similarity)
Sequence caution: Sequence=AAH50663.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
5 PDB 3D structures from and Proteopedia for SH3KBP1:
2BZ8 (3D)        2K6D (3D)        2K9G (3D)        2O2O (3D)        2YDL (3D)    
Secondary accessions: B7Z1D5 Q5JPT4 Q5JPT5 Q8IWX6 Q8IX98 Q96RN4 Q9NYR0
Alternative splicing: 3 isoforms:  Q96B97-1   Q96B97-2   Q96B97-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH3KBP1: NX_Q96B97

Explore proteomics data for SH3KBP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Monoubiquitinated by CBL and CBLB after EGF stimulation; probably on its C-terminus
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96B97

  • SH3KBP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SH3KBP1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001019837.1  NP_001171889.1  NP_114098.1  

    ENSEMBL proteins: 
     ENSP00000380921   ENSP00000369039   ENSP00000369020   ENSP00000369049   ENSP00000369019  
     ENSP00000388766   ENSP00000409292   ENSP00000442499  
    Reactome Protein details: Q96B97
    Human Recombinant Protein Products for SH3KBP1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SH3KBP1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane TAS--
    GO:0005925focal adhesion IEA--
    GO:0030659cytoplasmic vesicle membrane IEA--

    SH3KBP1 for ontologies           About GeneDecksing



    SH3KBP1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR011511 SH3_2
     IPR000108 p67phox
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q96B97

    ProtoNet protein and cluster: Q96B97

    UniProtKB/Swiss-Prot: SH3K1_HUMAN, Q96B97
    Domain: The SH3 domains mediate interaction with SHKBP1 (By similarity)
    Similarity: Contains 3 SH3 domains


    SH3KBP1 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: SH3K1_HUMAN, Q96B97
    Function: Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation
    of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and
    MET/hepatocyte growth factor receptor, through a association with CBL and endophilins. The association with CBL,
    and thus the receptor internalization, may inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in
    regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity
    by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion;
    promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response
    via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor
    mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in
    the control of cell shape and migration

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10679202
    GO:0016301kinase activity ----
    GO:0017124SH3 domain binding IEA--
         
    SH3KBP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SH3KBP1:
     Decreased number of cells in m  Increased cilium length after  

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sh3kbp1):
     adipose tissue  behavior/neurological  cellular  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  nervous system  other 

    SH3KBP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sh3kbp1tm1Ivdi for SH3KBP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SH3KBP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SH3KBP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SH3KBP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SH3KBP1 

    miRNA
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    hsa-miR-411* hsa-miR-579 hsa-miR-100* hsa-miR-30d hsa-miR-30a hsa-miR-629 hsa-miR-3613-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSH3KBP1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3KBP1


    (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 SH3KBP1 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    Signaling by EGFR0.84
    Signaling by EGFR in Cancer0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Signaling by the B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.81
    4Signaling by GPCR
    Signal Transduction0.55
    5Signaling events mediated by Stem cell factor receptor (c-Kit)
    Kit Receptor Signaling Pathway0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Cell Signaling Technology (CST) Pathways for SH3KBP1
        Cytoskeletal Signaling
    Lymphocyte Signaling
    Tyrosine Kinases / Adaptors
    Protein Stability

    4 BioSystems Pathways for SH3KBP1
        EGFR1 Signaling Pathway
    Kit Receptor Signaling Pathway
    Internalization of ErbB1
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)


    5/9        Reactome Pathways for SH3KBP1 (see all 9)
        Signaling by EGFR in Cancer
    Adaptive Immune System
    Disease
    EGFR downregulation
    Signaling by the B Cell Receptor (BCR)


    1         Kegg Pathway  (Kegg details for SH3KBP1):
        Endocytosis


    SH3KBP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SH3KBP1

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

    5/244 Interacting proteins for SH3KBP1 (Q96B971, 2, 3 ENSP000003809214) via UniProtKB, MINT, STRING, and/or I2D (see all 244)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBLBQ131912, 3, ENSP000002641224MINT-7218365 MINT-6170377 MINT-6170285 MINT-60962 MINT-6170307 MINT-6170329 MINT-7218592 MINT-7218322 MINT-6170347 MINT-7218288 MINT-7218378 MINT-60960 MINT-60961 MINT-7218305 I2D: score=3 STRING: ENSP00000264122
    ASAP1Q9ULH12, 3, ENSP000003502974MINT-8109719 MINT-4299861 MINT-8109706 MINT-4299822 MINT-8109732 MINT-4299909 MINT-4299808 MINT-4300027 I2D: score=3 STRING: ENSP00000350297
    SH3BP2P783142, 3, ENSP000003486854MINT-4550212 MINT-4563320 MINT-4563239 MINT-4563367 MINT-4563210 MINT-4551264 MINT-4549116 MINT-4551452 I2D: score=2 STRING: ENSP00000348685
    CBLP226811, 2, 3, ENSP000002640334EBI-346595,EBI-518228 MINT-6170185 MINT-6170213 MINT-16164 MINT-6170363 MINT-6170454 MINT-6170575 MINT-7218338 MINT-6170167 MINT-7211898 MINT-16165 MINT-6170624 MINT-8058594 MINT-7218251 MINT-6170443 MINT-7211942 MINT-6170405 MINT-6170469 MINT-6170229 MINT-16163 MINT-7218234 MINT-7218352 MINT-6170490 MINT-6170430 MINT-7218271 I2D: score=5 STRING: ENSP00000264033
    DDNO948501, 2, 3, ENSP000003905904EBI-346595,EBI-5240523 MINT-7137832 MINT-7137718 MINT-7137805 MINT-7137666 MINT-7137751 MINT-7137684 I2D: score=1 STRING: ENSP00000390590
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0006915apoptotic process IEA--
    GO:0007010cytoskeleton organization IMP--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007267cell-cell signaling NAS10679202

    SH3KBP1 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

    SH3KBP1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SH3KBP1 (SH3K1)

    2 Novoseek inferred chemical compound relationships for SH3KBP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 51.6 12 12874286 (2), 17675467 (2), 14596919 (2), 12218189 (1) (see all 9)
    phosphatidylinositol 19.2 1 15707590 (1)

    Search CenterWatch for drugs/clinical trials and news about SH3KBP1 / SH3K1

    (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,
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    About This Section

    REFSEQ mRNAs for SH3KBP1 gene (3 alternative transcripts): 
    NM_001024666.2  NM_001184960.1  NM_031892.2  

    Unigene Cluster for SH3KBP1:

    SH3-domain kinase binding protein 1
    Hs.726365  [show with all ESTs]
    Unigene Representative Sequence: NM_031892
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397821(uc010nfm.3 uc011mje.2 uc004czl.3 uc004czm.3)
    ENST00000379716(uc011mjf.2) ENST00000379698 ENST00000379726 ENST00000379697
    ENST00000494961 ENST00000477102 ENST00000432234 ENST00000431164 ENST00000541422


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    Additional mRNA sequence: 

    AF230904.1 AF329267.1 AF329268.1 AF542051.1 AK293234.1 AK293237.1 AK300189.1 AK307276.1 
    AK313308.1 AY542305.1 BC015806.1 BC041055.1 BC050663.2 

    17 DOTS entries:

    DT.85105659  DT.97770669  DT.100028419  DT.121320042  DT.100663420  DT.100663421  DT.121320069  DT.100663418 
    DT.121320076  DT.121320006  DT.121320098  DT.121320103  DT.75143594  DT.86999788  DT.95120025  DT.95337051 
    DT.97814479 

    24/278 AceView cDNA sequences (see all 278):

    AA482475 BQ058447 AI802881 BQ643199 BX477870 BU158571 AI363058 AI521503 
    BQ219043 BE395779 BX422813 AI201556 CB990130 CK724988 BU509384 AA988476 
    BM674106 BM701207 AF329267 BM907590 AJ705650 BQ014221 CB155871 AA687232 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SH3KBP1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21
    SP1:              -     -                             -                                         -                                                         
    SP2:                    -                             -                                         -                                                         
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for SH3KBP1

    (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

    SH3KBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SH3KBP1 Expression
    About this image


    See SH3KBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH3KBP1

    SOURCE GeneReport for Unigene cluster: Hs.726365

    UniProtKB/Swiss-Prot: SH3K1_HUMAN, Q96B97
    Tissue specificity: Ubiquitously expressed. Also expressed in some cancer cell lines

        SABiosciences Custom PCR Arrays for SH3KBP1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3KBP1

    (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 SH3KBP1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3kbp11 , 5 SH3-domain kinase binding protein 11, 5 90.93(n)1
    94.14(a)1
      X (73.65 cM)5
    581941  NM_001135727.11  NP_001129199.11 
     1596272725 
    chicken
    (Gallus gallus)
    Aves SH3KBP11 SH3-domain kinase binding protein 1 76.46(n)
    79.6(a)
      418608  NM_001030805.1  NP_001025976.1 
    lizard
    (Anolis carolinensis)
    Reptilia SH3KBP16
    Uncharacterized protein
    68(a)
    1 ↔ 1
    3(123532775-123770742)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.90672 Transcribed sequence with weak similarity to protein more 73.29(n)    CF784459.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7936231 SH3 domain-containing kinase-binding protein 1-like 62.82(n)
    60.88(a)
      793623  XM_002666661.2  XP_002666707.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta cindr6
    CIN85 and CD2AP orthologue
    17(a)
    1 → many
    3R(26634338-26652722)
    worm
    (Caenorhabditis elegans)
    Secernentea Y44E3A.41 Protein Y44E3A.4 41.48(n)
    30.82(a)
      171906  NM_058742.3  NP_491143.2 


    ENSEMBL Gene Tree for SH3KBP1 (if available)
    TreeFam Gene Tree for SH3KBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH3KBP1 gene
    CD2AP2  SH3D212  
    6 SIMAP similar genes for SH3KBP1 using alignment to 7 protein entries:     SH3K1_HUMAN (see all proteins):
    ARHGEF7    SH3GL2    NOSTRIN    SH3GL1    ITSN1    CD2AP

    SH3KBP1 for paralogs           About GeneDecksing



    (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

    10/4310 SNPs in SH3KBP1 are shown (see all 4310)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0156674
    ----see VAR_0156672 P L mis40--------
    rs1857176571,2
    --19465503(+) ACCTAA/CCTGGC 3 -- ds50010--------
    rs1894609001,2
    --19465976(+) GTAGCA/GGCTCG 3 -- ut310--------
    rs1809699671,2
    --19466173(+) CAACCA/GCTCAA 3 -- ut310--------
    rs1859030381,2
    --19466775(+) TCAGGA/GAAGAG 3 -- ut310--------
    rs1924247381,2
    --19466810(+) TCCAAC/TATCTT 3 -- ut310--------
    rs1832334461,2
    --19467120(+) TTAAAC/TGATAA 3 -- ut310--------
    rs1511862211,2
    --19467203(+) TTTATC/TTTTGC 3 -- ut310--------
    rs1860321281,2
    --19467230(+) CTGTTC/TACGCA 3 -- ut310--------
    rs2004862121,2
    C--19467233(-) TTTTGC/TGTGAA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for SH3KBP1 (19552083 - 19802083 bp, first 250kb of SH3KBP1)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SH3KBP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6825CNV Insertion18451855
    nsv6826CNV Insertion18451855
    nsv6824CNV Loss18451855


    Locus Specific Mutation Databases (LSDB): SH3KBP1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300374    OMIM disorders: --

    19 diseases for SH3KBP1:    About MalaCards
    parkinson disease 1    mast-cell leukemia    hepatitis e    cblc
    wiskott-aldrich syndrome    gout    parkinson's disease    herpes simplex
    colon adenocarcinoma    t-cell leukemia    sarcoma    hypoxia
    squamous cell carcinoma    ovarian cancer    hepatitis    adenocarcinoma
    leukemia    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SH3KBP1:
    mast-cell leukemia

    SH3KBP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for SH3KBP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 12177062 (1)


    Export disorders for SH3KBP1 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 SH3KBP1 gene, integrated from 9 sources (see all 120):
    (articles sorted by number of sources associating them with SH3KBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CD2BP3, CIN85 and the structurally related adaptor protein CMS bind to the same CD2 cytoplasmic segment but elicit divergent functional activities. (PubMed id 12618476)1, 2, 9 Tibaldi E.V. and Reinherz E.L. (2003)
    2. Dab2 links CIN85 with clathrin-mediated receptor internalization. (PubMed id 14596919)1, 2, 9 Kowanetz K.... Dikic I. (2003)
    3. CIN85 associates with TNF receptor 1 via Src and modulates TNF-alpha- induced apoptosis. (PubMed id 15707590)1, 2, 9 Narita T.... Taniyama T. (2005)
    4. CIN85 regulates the ability of MEKK4 to activate the p38 MAP kinase pathway. (PubMed id 16256071)1, 2, 9 Aissouni Y.... Soubeyran P. (2005)
    5. Cloning and characterization of a novel adaptor protein, CIN85, that interacts with c-Cbl. (PubMed id 10679202)1, 2, 9 Take H.... Kajigaya S. (2000)
    6. Cbl-directed monoubiquitination of CIN85 is involved in regulation of ligand-induced degradation of EGF receptors. (PubMed id 12218189)1, 2, 9 Haglund K.... Dikic I. (2002)
    7. CIN85 associates with multiple effectors controlling intracellular trafficking of epidermal growth factor receptors. (PubMed id 15090612)1, 2, 9 Kowanetz K....Dikic I. (2004)
    8. CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinases. (PubMed id 12177062)1, 2, 9 Szymkiewicz I....Dikic I. (2002)
    9. Linking the T cell surface protein CD2 to the actin-capping protein CAPZ via CMS and CIN85. (PubMed id 12690097)1, 2, 9 Hutchings N.J.... Brown M.H. (2003)
    10. Cbl promotes clustering of endocytic adaptor proteins. (PubMed id 16228008)1, 2, 9 Jozic D.... Bravo J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 30011 HGNC: 13867 AceView: SH3KBP1 Ensembl:ENSG00000147010 euGenes: HUgn30011
    ECgene: SH3KBP1 Kegg: 30011 H-InvDB: SH3KBP1

    (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 SH3KBP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SH3KBP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SH3KBP1 gene:
    Search GeneIP for patents involving SH3KBP1

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



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    About This Section

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