Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	92799
Gene name	SH3KBP1 binding protein 1
Gene symbol	SHKBP1
Synonyms (NCBI Gene)	PP203Sb1
Chromosome	19
Chromosome location	19q13.2

Show/Hide all (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
MIRT1347422	hsa-miR-3175	CLIP-seq
MIRT1347423	hsa-miR-34a	CLIP-seq
MIRT1347424	hsa-miR-34c-5p	CLIP-seq
MIRT1347425	hsa-miR-449a	CLIP-seq
MIRT1347426	hsa-miR-449b	CLIP-seq
MIRT1347427	hsa-miR-4728-5p	CLIP-seq
MIRT1347428	hsa-miR-4751	CLIP-seq
MIRT1347429	hsa-miR-939	CLIP-seq
MIRT1347418	hsa-miR-1224-5p	CLIP-seq
MIRT2102856	hsa-miR-1291	CLIP-seq
MIRT1347419	hsa-miR-2110	CLIP-seq
MIRT2102857	hsa-miR-2115	CLIP-seq
MIRT2102858	hsa-miR-3144-5p	CLIP-seq
MIRT1347420	hsa-miR-3150a-3p	CLIP-seq
MIRT1347421	hsa-miR-3164	CLIP-seq
MIRT1347422	hsa-miR-3175	CLIP-seq
MIRT2102859	hsa-miR-3180-5p	CLIP-seq
MIRT2102860	hsa-miR-3191	CLIP-seq
MIRT2102861	hsa-miR-3649	CLIP-seq
MIRT2102862	hsa-miR-4652-5p	CLIP-seq
MIRT1347427	hsa-miR-4728-5p	CLIP-seq
MIRT2102863	hsa-miR-4747-5p	CLIP-seq
MIRT1347428	hsa-miR-4751	CLIP-seq
MIRT2102864	hsa-miR-491-5p	CLIP-seq
MIRT2102865	hsa-miR-520a-5p	CLIP-seq
MIRT2102866	hsa-miR-525-5p	CLIP-seq
MIRT2102867	hsa-miR-583	CLIP-seq
MIRT2102868	hsa-miR-628-3p	CLIP-seq
MIRT1347429	hsa-miR-939	CLIP-seq
MIRT2102856	hsa-miR-1291	CLIP-seq
MIRT1347418	hsa-miR-1224-5p	CLIP-seq
MIRT1347423	hsa-miR-34a	CLIP-seq
MIRT1347424	hsa-miR-34c-5p	CLIP-seq
MIRT1347425	hsa-miR-449a	CLIP-seq
MIRT1347426	hsa-miR-449b	CLIP-seq
MIRT1347428	hsa-miR-4751	CLIP-seq
MIRT1347418	hsa-miR-1224-5p	CLIP-seq
MIRT1347423	hsa-miR-34a	CLIP-seq
MIRT1347424	hsa-miR-34c-5p	CLIP-seq
MIRT1347425	hsa-miR-449a	CLIP-seq
MIRT1347426	hsa-miR-449b	CLIP-seq
MIRT1347428	hsa-miR-4751	CLIP-seq

Show/Hide all (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
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	ISS
GO:0051260	Process	Protein homooligomerization	IEA

MIM	HGNC	e!Ensembl
617322	19214	ENSG00000160410

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
GAIFIDRDPTVFAPILNFLRTKELDPRGVHGSSLLHEAQFYGLTPLVRRLQLREELDRSS
CGNVLFNGYLPPPVFPVKRRNRHSLVGPQQLGGRPAPVRRSNTMPPNLGNAGLLGRMLDE
KTPPSPSGQPEEPGMVRLVCGHHNWIAVAYTQFLVCYRLKEASGWQLVFSSPRLDWPIER
LALTARVHGGALGEHDKMVAAATGSEILLWALQAEGGGSEIGVFHLGVPVEALFFVGNQL
IATSHTGRIGVWNAVTKHWQVQEVQPITSYDAAGSFLLLGCNNGSIYYVDVQKFPLRMKD
NDLLVSELYRDPAEDGVTALSVYLTPKTSDSGNWIEIAYGTSSGGVRVIVQHPETVGSGP
QLFQTFTVHRSPVTKIMLSEKHLISVCADNNHVRTWSVTRFRGMISTQPGSTPLASFKIL
ALESADGHGGCSAGNDIGPYGERDDQQVFIQKVVPSASQLFVRLSSTGQRVCSVRSVDGS
PTTAFTVLECEGSRRLGSRPRRYLLTGQANGSLAMWDLTTAMDGLGQAPAGGLTEQELME
QLEHCELAPPAPSAPSWGCLPSPSPRISLTSLHSASSNTSLSGHRGSPSPPQAEARRRGG
GSFVERCQELVRSGPDLRRPPTPAPWPSSGLGTPLTPPKMKLNETSF

Sequence length

707

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinogenesis	Carcinogenesis	Pubtator	35502885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21339757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	30014611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35502885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31138318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	GWASCAT_DG	30014611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31138318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35502885	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28112728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SHKBP1 (SH3KBP1 binding protein 1)