Gene Gene information from NCBI Gene database.
Entrez ID 92799
Gene name SH3KBP1 binding protein 1
Gene symbol SHKBP1
Synonyms (NCBI Gene)
PP203Sb1
Chromosome 19
Chromosome location 19q13.2
miRNA miRNA information provided by mirtarbase database.
47
miRTarBase ID miRNA Experiments Reference
MIRT040411 hsa-miR-615-3p CLASH 23622248
MIRT1347418 hsa-miR-1224-5p CLIP-seq
MIRT1347419 hsa-miR-2110 CLIP-seq
MIRT1347420 hsa-miR-3150a-3p CLIP-seq
MIRT1347421 hsa-miR-3164 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21145461, 21988832, 32296183, 34591642, 36931259
GO:0005764 Component Lysosome IEA
GO:0042802 Function Identical protein binding IPI 32296183
GO:0045742 Process Positive regulation of epidermal growth factor receptor signaling pathway IBA
GO:0045742 Process Positive regulation of epidermal growth factor receptor signaling pathway IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617322 19214 ENSG00000160410
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TBC3
Protein name SH3KBP1-binding protein 1 (SETA-binding protein 1)
Protein function Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation. {
PDB 4CRH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 21 110 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16733801}.
Sequence
MAAAATAAEGVPSRGPPGEVIHLNVGGKRFSTSRQTLTWIPDSFFSSLLSGRISTLKDET
GAIFIDRDPTVFAPILNFLRTKELDPRGVHGSSLLHEAQFYGLTPLVRRL
QLREELDRSS
CGNVLFNGYLPPPVFPVKRRNRHSLVGPQQLGGRPAPVRRSNTMPPNLGNAGLLGRMLDE
KTPPSPSGQPEEPGMVRLVCGHHNWIAVAYTQFLVCYRLKEASGWQLVFSSPRLDWPIER
LALTARVHGGALGEHDKMVAAATGSEILLWALQAEGGGSEIGVFHLGVPVEALFFVGNQL
IATSHTGRIGVWNAVTKHWQVQEVQPITSYDAAGSFLLLGCNNGSIYYVDVQKFPLRMKD
NDLLVSELYRDPAEDGVTALSVYLTPKTSDSGNWIEIAYGTSSGGVRVIVQHPETVGSGP
QLFQTFTVHRSPVTKIMLSEKHLISVCADNNHVRTWSVTRFRGMISTQPGSTPLASFKIL
ALESADGHGGCSAGNDIGPYGERDDQQVFIQKVVPSASQLFVRLSSTGQRVCSVRSVDGS
PTTAFTVLECEGSRRLGSRPRRYLLTGQANGSLAMWDLTTAMDGLGQAPAGGLTEQELME
QLEHCELAPPAPSAPSWGCLPSPSPRISLTSLHSASSNTSLSGHRGSPSPPQAEARRRGG
GSFVERCQELVRSGPDLRRPPTPAPWPSSGLGTPLTPPKMKLNETSF
Sequence length 707
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Melanoma Uncertain significance rs150564286 RCV005932708
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 35502885
Long QT Syndrome Associate 30014611
Lymphatic Metastasis Associate 35502885
Neoplasms Associate 35502885
Squamous Cell Carcinoma of Head and Neck Stimulate 35502885
Uterine Cervical Neoplasms Associate 28112728