Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
92799
Gene name Gene Name - the full gene name approved by the HGNC.
SH3KBP1 binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SHKBP1
Synonyms (NCBI Gene) Gene synonyms aliases
PP203, Sb1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21145461, 21988832, 32296183
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 21873635
GO:0045742 Process Positive regulation of epidermal growth factor receptor signaling pathway ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617322 19214 ENSG00000160410
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Duchenne muscular dystrophy Muscular Dystrophy, Duchenne rs128625226, rs128625227, rs128625228, rs128625229, rs2147483647, rs104894787, rs128625230, rs128626234, rs201366610, rs267606770, rs128626235, rs128626231, rs146071084, rs128626232, rs104894788
View all (641 more)
30014611
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Associations from Text Mining
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