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SH3KBP1 (SH3 domain containing kinase binding protein 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
30011
Gene nameGene Name - the full gene name approved by the HGNC.
SH3 domain containing kinase binding protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SH3KBP1
SynonymsGene synonyms aliases
AGMX2, CD2BP3, CIN85, GIG10, HSB-1, HSB1, IMD61, MIG18
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.12
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes an adapter protein that contains one or more 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 cel
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs1602794694 C>G Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT035790 hsa-miR-1914-5p CLASH 23622248
MIRT613683 hsa-miR-548az-5p HITS-CLIP 23824327
MIRT613682 hsa-miR-548t-5p HITS-CLIP 23824327
MIRT613681 hsa-miR-3609 HITS-CLIP 23824327
MIRT613680 hsa-miR-548ah-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10679202, 12177062, 14596919, 15090612, 15962011, 16164598, 16256071, 16751601, 17255943, 17306257, 18641129, 18680311, 19111555, 19268472, 20221403, 20551902, 20711168, 21516116, 21900206, 23178720, 23663663, 25036637, 28514442, 31413325, 31980649, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 20221403, 25468996
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96B97
Protein name SH3 domain-containing kinase-binding protein 1 (CD2-binding protein 3) (CD2BP3) (Cbl-interacting protein of 85 kDa) (Human Src family kinase-binding protein 1) (HSB-1)
Protein 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 recepto
PDB 2BZ8 , 2K6D , 2K9G , 2N64 , 2O2O , 2YDL , 5ABS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9
6 → 54
Variant SH3 domain
 Domain
PF14604 SH3_9
105 → 153
Variant SH3 domain
 Domain
PF14604 SH3_9
274 → 324
Variant SH3 domain
 Domain
Sequence 
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEM
KKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVAFSYLPQNDDELELK
VGDIIEVVGEVEEGWWEGVLNGKTGMFPSNFIKELSGESDELGISQDEQLSKSSLRETTG
SESDGGDSSSTKSEGANGTVATAAIQPKKVKGVGFGDIFKDKPIKLRPRSIEVENDFLPV
EKTIGKKLPATTATPDSSKTEMDSRTKSKDYCKVIFPYEAQNDDELTIKEGDIVTLINKD
CIDVGWWEGELNGRRGVFPDNFVKLLPPDFEKEGNRPKKPPPPSAPVIKQGAGTTERKHE
IKKIPPERPEMLPNRTEEKERPEREPKLDLQKPSVPAIPPKKPRPPKTNSLSRPGALPPR
RPERPVGPLTHTRGDSPKIDLAGSSLSGILDKDLSDRSNDIDLEGFDSVVSSTEKLSHPT
TSRPKATGRRPPSQSLTSSSLSSPDIFDSPSPEEDKEEHISLAHRGVDASKKTSKTVTIS
QVSDNKASLPPKPGTMAAGGGGPAPLSSAAPSPLSSSLGTAGHRANSPSLFGTEGKPKME
PAASSQAAVEELRTQVRELRSIIETMKDQQKREIKQLLSELDEEKKIRLRLQMEVNDIKK
ALQSK
Sequence length 665
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Endocytosis   EGFR downregulation
Negative regulation of MET activity
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Reelin signalling pathway
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Agammaglobulinemia Agammaglobulinemia rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392, rs1555976766, rs1555977461, rs1555977580, rs1555977592, rs1555977598, rs1555978024, rs1555978197, rs1555978277, rs1555978891, rs1555980049, rs1555980799, rs1555980866, rs1554906579, rs1568801716, rs1565638431, rs2095906547, rs2095906404
Agammaglobulinemia, x-linked AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder) rs128620183, rs128620184, rs128620187, rs128620188, rs128620185, rs128620186, rs128620189, rs864321660, rs864321661, rs864321662, rs864321663, rs128621190, rs864321664, rs864321665, rs1569293253, rs1569292813, rs128621191, rs128621192, rs128621193, rs1569292649, rs128621194, rs128621195, rs128621196, rs2147430166, rs2147429013, rs128621198, rs128621199, rs41310709, rs128621201, rs128621202, rs2147425836, rs1569291215, rs128621204, rs128621205, rs128621206, rs128621207, rs128621208, rs128621209, rs128621210, rs128622211, rs2147423959, rs128622212, rs104894770, rs1569292818, rs1131691354, rs193922124, rs193922125, rs193922126, rs193922128, rs193922129, rs193922131, rs193922132, rs886041148, rs1064793859, rs1555977339, rs1555977592, rs1555978277, rs1555980049, rs1555980796, rs1555978412, rs1555978777, rs1569292774, rs1569291644, rs1569292214, rs1569292021, rs1569292810, rs1569296295, rs1603019594, rs1569293252, rs1603001805, rs1603007942, rs1603001771, rs1603008381, rs782519139, rs1603005659
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Unknown
Disease name Disease term dbSNP ID References
Malabsorption syndrome Malabsorption Syndrome
Otitis media Recurrent otitis media rs601338, rs1047781, rs1800028
Sinusitis Recurrent sinusitis

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