Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SHKBP1 Gene

Aliases for SHKBP1 Gene

  • SH3KBP1 Binding Protein 1 2 3 5
  • SETA-Binding Protein 1 3 4
  • Sb1 3 4
  • SH3KBP1-Binding Protein 1 3
  • PP203 3

External Ids for SHKBP1 Gene

Previous GeneCards Identifiers for SHKBP1 Gene

  • GC19P045777
  • GC19P041082
  • GC19P037517

Summaries for SHKBP1 Gene

GeneCards Summary for SHKBP1 Gene

SHKBP1 (SH3KBP1 Binding Protein 1) is a Protein Coding gene. An important paralog of this gene is KCTD3.

UniProtKB/Swiss-Prot for SHKBP1 Gene

  • 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.

Additional gene information for SHKBP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHKBP1 Gene

Genomics for SHKBP1 Gene

GeneHancer (GH) Regulatory Elements for SHKBP1 Gene

Promoters and enhancers for SHKBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I040575 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 556.5 +0.0 6 1.9 PKNOX1 ARID4B SIN3A E2F8 ZNF143 FOS KLF13 SP3 CEBPZ SP5 SHKBP1 GC19P040575 HNRNPUL1 PSMC4 CCDC97 SNRPA FBL CYP2F2P ENSG00000269843 AKT2
GH19I040578 Enhancer 0.9 ENCODE 558 +1.8 1839 0.2 PKNOX1 ATF1 ARNT ETS1 ZNF766 E2F8 ZNF143 ATF7 SP3 ZNF592 SHKBP1 LTBP4
GH19I040596 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.8 +24.8 24845 10 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 LTBP4 HNRNPUL1 ZNF780B SNRPA ENSG00000269843 CCDC97 AKT2 FBL ZNF780A CYP2G1P
GH19I040608 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 27.8 +33.7 33659 3.1 HDGF PKNOX1 ZNF133 SIN3A ZNF2 ZBTB7B ZNF48 GLIS2 ZNF416 ZNF207 ENSG00000269843 HNRNPUL1 SNRPA ZNF780B SHKBP1 AKT2 CCDC97 NUMBL PSMC4 ZNF780A
GH19I040612 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 20.5 +37.6 37632 4 HDGF PKNOX1 ARNT SIN3A ZBTB7B E2F8 ZNF207 ZNF143 FOS ZNF263 SNRPA ENSG00000269843 HNRNPUL1 PSMC4 SERTAD3 CCDC97 FBL SHKBP1 ITPKC AKT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SHKBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SHKBP1 gene promoter:

Genomic Locations for SHKBP1 Gene

Genomic Locations for SHKBP1 Gene
chr19:40,576,851-40,591,399
(GRCh38/hg38)
Size:
14,549 bases
Orientation:
Plus strand
chr19:41,082,757-41,097,305
(GRCh37/hg19)

Genomic View for SHKBP1 Gene

Genes around SHKBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHKBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHKBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHKBP1 Gene

Proteins for SHKBP1 Gene

  • Protein details for SHKBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBC3-SHKB1_HUMAN
    Recommended name:
    SH3KBP1-binding protein 1
    Protein Accession:
    Q8TBC3
    Secondary Accessions:
    • Q8N2I6
    • Q8WY93
    • Q96IB8

    Protein attributes for SHKBP1 Gene

    Size:
    707 amino acids
    Molecular mass:
    76344 Da
    Quaternary structure:
    • Monomer (PubMed:28963344). Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (PubMed:28963344). Interacts (via PXXXPR motifs) with SH3KBP1 (via SH3 domains) (By similarity). Directly interacts with cathepsin B/CTSB (PubMed:16733801).

    Three dimensional structures from OCA and Proteopedia for SHKBP1 Gene

    Alternative splice isoforms for SHKBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHKBP1 Gene

Post-translational modifications for SHKBP1 Gene

  • Ubiquitination at posLast=2828, posLast=181181, posLast=359359, and isoforms=512
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SHKBP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SHKBP1

No data available for DME Specific Peptides for SHKBP1 Gene

Domains & Families for SHKBP1 Gene

Gene Families for SHKBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q8TBC3

UniProtKB/Swiss-Prot:

SHKB1_HUMAN :
  • Belongs to the KCTD3 family.
Family:
  • Belongs to the KCTD3 family.
genes like me logo Genes that share domains with SHKBP1: view

Function for SHKBP1 Gene

Molecular function for SHKBP1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SHKBP1 Gene

Gene Ontology (GO) - Molecular Function for SHKBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with SHKBP1: view
genes like me logo Genes that share phenotypes with SHKBP1: view

Animal Model Products

CRISPR Products

miRNA for SHKBP1 Gene

miRTarBase miRNAs that target SHKBP1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHKBP1 Gene

Localization for SHKBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHKBP1 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHKBP1 gene
Compartment Confidence
lysosome 3
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SHKBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with SHKBP1: view

Pathways & Interactions for SHKBP1 Gene

SuperPathways for SHKBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SHKBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway ISS,IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with SHKBP1: view

No data available for Pathways by source and SIGNOR curated interactions for SHKBP1 Gene

Drugs & Compounds for SHKBP1 Gene

No Compound Related Data Available

Transcripts for SHKBP1 Gene

Unigene Clusters for SHKBP1 Gene

SH3KBP1 binding protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHKBP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - - - - - - - - -
SP8:
SP9:
SP10:
SP11: - -
SP12: - - - -
SP13:
SP14:
SP15:
SP16: - - - - -
SP17:

ExUns: 13 ^ 14 ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13: - - - - -
SP14: -
SP15: -
SP16:
SP17:

Relevant External Links for SHKBP1 Gene

GeneLoc Exon Structure for
SHKBP1
ECgene alternative splicing isoforms for
SHKBP1

Expression for SHKBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SHKBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHKBP1 Gene

This gene is overexpressed in Whole Blood (x22.7).

Protein differential expression in normal tissues from HIPED for SHKBP1 Gene

This gene is overexpressed in Breast (58.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SHKBP1 Gene



Protein tissue co-expression partners for SHKBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SHKBP1 Gene:

SHKBP1

SOURCE GeneReport for Unigene cluster for SHKBP1 Gene:

Hs.26506

mRNA Expression by UniProt/SwissProt for SHKBP1 Gene:

Q8TBC3-SHKB1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SHKBP1 Gene

  • Nervous system(4.8)
  • Blood(2.5)
genes like me logo Genes that share expression patterns with SHKBP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SHKBP1 Gene

Orthologs for SHKBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHKBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHKBP1 33 34
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia SHKBP1 33 34
  • 90.6 (n)
cow
(Bos Taurus)
Mammalia SHKBP1 33 34
  • 90.53 (n)
mouse
(Mus musculus)
Mammalia Shkbp1 33 16 34
  • 85.8 (n)
rat
(Rattus norvegicus)
Mammalia Shkbp1 33
  • 85.32 (n)
oppossum
(Monodelphis domestica)
Mammalia SHKBP1 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHKBP1 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHKBP1 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHKBP1 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486587 33
  • 68.6 (n)
zebrafish
(Danio rerio)
Actinopterygii shkbp1 33
  • 69.43 (n)
SHKBP1 34
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9467 34
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T23B12.6 34
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToMany
Species where no ortholog for SHKBP1 was found in the sources mined by GeneCards:
  • 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 SHKBP1 Gene

ENSEMBL:
Gene Tree for SHKBP1 (if available)
TreeFam:
Gene Tree for SHKBP1 (if available)

Paralogs for SHKBP1 Gene

Variants for SHKBP1 Gene

Sequence variations from dbSNP and Humsavar for SHKBP1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000732642 -- 40,576,530(+) G/C upstream_transcript_variant
rs1001017502 -- 40,577,130(+) G/C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001106781 -- 40,587,760(+) C/T intron_variant
rs1001483674 -- 40,581,717(+) C/G intron_variant
rs1001535097 -- 40,576,992(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SHKBP1 Gene

Variant ID Type Subtype PubMed ID
esv2718566 CNV deletion 23290073

Variation tolerance for SHKBP1 Gene

Residual Variation Intolerance Score: 31.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHKBP1 Gene

Human Gene Mutation Database (HGMD)
SHKBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHKBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHKBP1 Gene

Disorders for SHKBP1 Gene

Additional Disease Information for SHKBP1

No disorders were found for SHKBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SHKBP1 Gene

Publications for SHKBP1 Gene

  1. Human homologue of SETA binding protein 1 interacts with cathepsin B and participates in TNF-Induced apoptosis in ovarian cancer cells. (PMID: 16733801) Liu JP … Li YY (Molecular and cellular biochemistry 2006) 3 4 58
  2. SETA is a multifunctional adapter protein with three SH3 domains that binds Grb2, Cbl, and the novel SB1 proteins. (PMID: 11152963) Borinstein SC … Bogler O (Cellular signalling 2000) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases. (PMID: 28963344) Pinkas DM … Bullock AN (The Biochemical journal 2017) 4 58
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58

Products for SHKBP1 Gene

Sources for SHKBP1 Gene

Content
Loading form....