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Aliases for SH3KBP1 Gene

Aliases for SH3KBP1 Gene

  • SH3 Domain Containing Kinase Binding Protein 1 2 3
  • Human Src Family Kinase-Binding Protein 1 3 4
  • SH3-Domain Kinase Binding Protein 1 3 5
  • Cbl-Interacting Protein Of 85 KDa 3 4
  • CD2-Binding Protein 3 3 4
  • CD2BP3 3 4
  • CIN85 3 4
  • HSB-1 3 4
  • Src-Related Kinase Binding Protein-1 3
  • Src Family Kinase-Binding Protein 1 3
  • Migration-Inducing Gene 18 3
  • C-Cbl-Interacting Protein 3
  • GIG10 3
  • MIG18 3
  • HSB1 3

External Ids for SH3KBP1 Gene

Previous GeneCards Identifiers for SH3KBP1 Gene

  • GC0XM019030
  • GC0XM018219
  • GC0XM018751
  • GC0XM018914
  • GC0XM019313
  • GC0XM019462
  • GC0XM017300

Summaries for SH3KBP1 Gene

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 Containing Kinase Binding Protein 1) is a Protein Coding gene. Diseases associated with SH3KBP1 include adrenal cortical adenocarcinoma. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include SH3 domain binding. An important paralog of this gene is CD2AP.

UniProtKB/Swiss-Prot for SH3KBP1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3KBP1 Gene

Genomics for SH3KBP1 Gene

Regulatory Elements for SH3KBP1 Gene

Promoters for SH3KBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SH3KBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SH3KBP1 Gene

Chromosome:
X
Start:
19,533,965 bp from pter
End:
19,887,626 bp from pter
Size:
353,662 bases
Orientation:
Minus strand

Genomic View for SH3KBP1 Gene

Genes around SH3KBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3KBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3KBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3KBP1 Gene

Proteins for SH3KBP1 Gene

  • Protein details for SH3KBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96B97-SH3K1_HUMAN
    Recommended name:
    SH3 domain-containing kinase-binding protein 1
    Protein Accession:
    Q96B97
    Secondary Accessions:
    • B7Z1D5
    • Q5JPT4
    • Q5JPT5
    • Q8IWX6
    • Q8IX98
    • Q96RN4
    • Q9NYR0

    Protein attributes for SH3KBP1 Gene

    Size:
    665 amino acids
    Molecular mass:
    73126 Da
    Quaternary structure:
    • 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. Interacts (via SH3 domains) with SHKBP1 (via PXXXPR motifs) (By similarity). Interaction with CBL is abolished in the presence of SHKBP1 (By similarity).
    SequenceCaution:
    • Sequence=AAH50663.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SH3KBP1 Gene

    Alternative splice isoforms for SH3KBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3KBP1 Gene

Proteomics data for SH3KBP1 Gene at MOPED

Post-translational modifications for SH3KBP1 Gene

  • Monoubiquitinated by CBL and CBLB after EGF stimulation; probably on its C-terminus.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for SH3KBP1 (CIN85/SH3KBP1)
  • Cell Signaling Technology (CST) Antibodies for SH3KBP1 (SH3KBP1)

No data available for DME Specific Peptides for SH3KBP1 Gene

Domains & Families for SH3KBP1 Gene

Protein Domains for SH3KBP1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96B97

UniProtKB/Swiss-Prot:

SH3K1_HUMAN :
  • Contains 3 SH3 domains.
Domain:
  • Contains 3 SH3 domains.
genes like me logo Genes that share domains with SH3KBP1: view

No data available for Gene Families for SH3KBP1 Gene

Function for SH3KBP1 Gene

Molecular function for SH3KBP1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with SH3KBP1: view

Animal Models for SH3KBP1 Gene

MGI Knock Outs for SH3KBP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH3KBP1 Gene

Localization for SH3KBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3KBP1 Gene

Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome. Cell junction, focal adhesion. 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. Translocation to EGFR containing vesicles upon EGF stimulation is inhibited in the presence of SH3KBP1 (By similarity). {ECO:0000250 UniProtKB:Q8R550}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3KBP1 Gene COMPARTMENTS Subcellular localization image for SH3KBP1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
cytoskeleton 4
nucleus 3
endosome 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for SH3KBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with SH3KBP1: view

Pathways & Interactions for SH3KBP1 Gene

genes like me logo Genes that share pathways with SH3KBP1: view

Interacting Proteins for SH3KBP1 Gene

SIGNOR curated interactions for SH3KBP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for SH3KBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007267 cell-cell signaling NAS 10679202
genes like me logo Genes that share ontologies with SH3KBP1: view

Drugs & Compounds for SH3KBP1 Gene

(1) Drugs for SH3KBP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SH3KBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SH3KBP1: view

Transcripts for SH3KBP1 Gene

Unigene Clusters for SH3KBP1 Gene

SH3-domain kinase binding protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3KBP1 Gene

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:
SP6: -

Relevant External Links for SH3KBP1 Gene

GeneLoc Exon Structure for
SH3KBP1
ECgene alternative splicing isoforms for
SH3KBP1

Expression for SH3KBP1 Gene

mRNA expression in normal human tissues for SH3KBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3KBP1 Gene

This gene is overexpressed in Whole Blood (x6.4).

Protein differential expression in normal tissues from HIPED for SH3KBP1 Gene

This gene is overexpressed in Lymph node (20.9), Peripheral blood mononuclear cells (16.8), and Tlymphocyte (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH3KBP1 Gene



SOURCE GeneReport for Unigene cluster for SH3KBP1 Gene Hs.726365

mRNA Expression by UniProt/SwissProt for SH3KBP1 Gene

Q96B97-SH3K1_HUMAN
Tissue specificity: Ubiquitously expressed. Also expressed in some cancer cell lines.
genes like me logo Genes that share expression patterns with SH3KBP1: view

Protein tissue co-expression partners for SH3KBP1 Gene

Primer Products

In Situ Assay Products

Orthologs for SH3KBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3KBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3KBP1 35
  • 93.6 (n)
  • 92.72 (a)
cow
(Bos Taurus)
Mammalia SH3KBP1 36
  • 93 (a)
OneToOne
SH3KBP1 35
  • 91.28 (n)
  • 95.79 (a)
dog
(Canis familiaris)
Mammalia SH3KBP1 35
  • 92.42 (n)
  • 95.93 (a)
SH3KBP1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3kbp1 16
Sh3kbp1 35
  • 90.93 (n)
  • 94.14 (a)
Sh3kbp1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SH3KBP1 36
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3kbp1 35
  • 90.38 (n)
  • 93.53 (a)
chicken
(Gallus gallus)
Aves SH3KBP1 35
  • 76.05 (n)
  • 79 (a)
SH3KBP1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3KBP1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3kbp1 35
  • 68.2 (n)
  • 66.56 (a)
Str.9067 35
zebrafish
(Danio rerio)
Actinopterygii sh3kbp1 36
  • 53 (a)
OneToOne
sh3kbp1 35
  • 62.3 (n)
  • 59.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta cindr 36
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y44E3A.4 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for SH3KBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SH3KBP1 Gene

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

Paralogs for SH3KBP1 Gene

Paralogs for SH3KBP1 Gene

(6) SIMAP similar genes for SH3KBP1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SH3KBP1: view

Variants for SH3KBP1 Gene

Sequence variations from dbSNP and Humsavar for SH3KBP1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs900687 -- 19,761,877(+) TACTA(C/T)GTGTG intron-variant
rs936424 -- 19,647,384(-) TTCTT(C/T)TGTTA intron-variant
rs949476 -- 19,569,507(+) CCCTG(C/T)GGCCA intron-variant
rs724923 -- 19,553,065(-) CATTC(C/G)AGCCT intron-variant
rs729135 -- 19,614,996(-) ATGTT(A/T)GAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SH3KBP1 Gene

Variant ID Type Subtype PubMed ID
nsv6824 CNV Loss 18451855
nsv6825 CNV Insertion 18451855
nsv6826 CNV Insertion 18451855

Variation tolerance for SH3KBP1 Gene

Residual Variation Intolerance Score: 9.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3KBP1 Gene

HapMap Linkage Disequilibrium report
SH3KBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3KBP1 Gene

Disorders for SH3KBP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SH3KBP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
adrenal cortical adenocarcinoma
  • adrenocortical carcinoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SH3KBP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH3KBP1
genes like me logo Genes that share disorders with SH3KBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SH3KBP1 Gene

Publications for SH3KBP1 Gene

  1. CD2BP3, CIN85 and the structurally related adaptor protein CMS bind to the same CD2 cytoplasmic segment but elicit divergent functional activities. (PMID: 12618476) Tibaldi E.V. … Reinherz E.L. (Int. Immunol. 2003) 3 4 23 67
  2. Phosphorylation of human tristetraprolin in response to its interaction with the Cbl interacting protein CIN85. (PMID: 20221403) Kedar V.P. … Blackshear P.J. (PLoS ONE 2010) 3 23
  3. Novel insights into the mechanisms of CIN85 SH3 domains binding to Cbl proteins: solution-based investigations and in vivo implications. (PMID: 19268472) Ababou A. … Ladbury J.E. (J. Mol. Biol. 2009) 3 23
  4. Interactions between the three CIN85 SH3 domains and ubiquitin: implications for CIN85 ubiquitination. (PMID: 18680311) Bezsonova I. … Forman-Kay J.D. (Biochemistry 2008) 3 23
  5. Abl-SH3 binding protein 2, 3BP2, interacts with CIN85 and HIP-55. (PMID: 17306257) Le Bras S. … Deckert M. (FEBS Lett. 2007) 3 23

Products for SH3KBP1 Gene

Sources for SH3KBP1 Gene

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