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Aliases for SHKBP1 Gene

Aliases for SHKBP1 Gene

  • SH3KBP1 Binding Protein 1 2 3 5
  • SH3KBP1-Binding Protein 1 3
  • PP203 3
  • Sb1 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.

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

Genomics for SHKBP1 Gene

Regulatory Elements for SHKBP1 Gene

Enhancers for SHKBP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F040584 1 Ensembl ENCODE 30 +8.9 8860 2.3 TAF1 JUN INSM2 MAX SIN3A CEBPG ZEB1 ZNF121 ZNF366 KLF8 SHKBP1 LTBP4 SERTAD3
GH19F040608 0.5 ENCODE 27.8 +33.7 33660 3.1 HDGF ZNF133 ZNF48 ZNF2 GLIS2 ZNF416 ZNF548 ZNF263 SP3 YY2 ENSG00000269843 SNRPA FBL CCDC97 ITPKC SHKBP1 ENSG00000268366 SERTAD3 CYP2G2P ENSG00000271299
GH19F040622 1.1 Ensembl ENCODE 24.5 +46.7 46732 2.1 HDGF ATF1 PKNOX1 ZNF2 GLIS2 CBX5 KLF7 ZNF263 SP3 YY2 SHKBP1 SNRPA ENSG00000269843 ITPKC FBL NUMBL SERTAD3 SERTAD1 HIPK4 TTC9B
GH19F040596 1.3 FANTOM5 ENCODE 23.8 +24.8 24845 10.0 CREB3L1 MLX FEZF1 DMAP1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 NFYC ENSG00000205041 ENSG00000269843 ENSG00000269069 NUMBL SHKBP1 SNRPA CYP2G2P ENSG00000271299 LGALS14 LOC100129935
GH19F040612 0.4 ENCODE 20.4 +37.6 37632 4.0 HDGF ATF1 PKNOX1 ARNT SIN3A ZNF121 ZNF207 FOS KLF7 SP3 SNRPA SERTAD3 ENSG00000269843 SHKBP1 NUMBL ITPKC FBL RAB4B RAB4B-EGLN2 EGLN2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SHKBP1 on UCSC Golden Path with GeneCards custom track

Promoters for SHKBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000346616 149 2001 PKNOX1 ARID4B SIN3A ZNF121 GLIS2 ELK1 ZNF143 KLF7 FOS ZNF263

Genomic Location for SHKBP1 Gene

Chromosome:
19
Start:
40,576,851 bp from pter
End:
40,591,399 bp from pter
Size:
14,549 bases
Orientation:
Plus strand

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:
    • Interacts (via PXXXPR motifs) with SH3KBP1 (via SH3 domains).

    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 Lys 28, Lys 181, Lys 359, and Lys 512
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SHKBP1 Gene

Domains & Families for SHKBP1 Gene

Gene Families for SHKBP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TBC3

UniProtKB/Swiss-Prot:

SHKB1_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Belongs to the KCTD3 family.
  • Contains 8 WD repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the KCTD3 family.
Similarity:
  • Contains 8 WD repeats.
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.

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

miRNA for SHKBP1 Gene

miRTarBase miRNAs that target SHKBP1

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for SHKBP1 Gene COMPARTMENTS Subcellular localization image for SHKBP1 gene
Compartment Confidence
cytosol 2
nucleus 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SHKBP1 Gene

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 --
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

Transcripts for SHKBP1 Gene

Unigene Clusters for SHKBP1 Gene

SH3KBP1 binding protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with SHKBP1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia SHKBP1 34 35
  • 90.6 (n)
cow
(Bos Taurus)
Mammalia SHKBP1 34 35
  • 90.53 (n)
mouse
(Mus musculus)
Mammalia Shkbp1 34 16 35
  • 85.8 (n)
rat
(Rattus norvegicus)
Mammalia Shkbp1 34
  • 85.32 (n)
oppossum
(Monodelphis domestica)
Mammalia SHKBP1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHKBP1 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHKBP1 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHKBP1 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486587 34
  • 68.6 (n)
zebrafish
(Danio rerio)
Actinopterygii shkbp1 34
  • 69.43 (n)
SHKBP1 35
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9467 35
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T23B12.6 35
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs10402698 -- 40,585,951(+) cctag(G/T)ctgga intron-variant
rs10408716 -- 40,585,262(+) cacca(C/T)acctg intron-variant
rs1046422 -- 40,591,340(+) TCCCC(A/C)CCTTC upstream-variant-2KB, utr-variant-3-prime
rs111469005 -- 40,586,428(+) GTGGC(A/G)TGGTC intron-variant
rs111501435 -- 40,581,532(+) AAAAA(A/C)AAAAA intron-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)

Relevant External Links 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

Relevant External Links for SHKBP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. SETA is a multifunctional adapter protein with three SH3 domains that binds Grb2, Cbl, and the novel SB1 proteins. (PMID: 11152963) Borinstein S.C. … Bogler O. (Cell. Signal. 2000) 2 3 64
  2. Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients. (PMID: 25457385) Bhanushali A.A. … Das B.R. (Blood Cells Mol. Dis. 2015) 3 64
  3. Luzp4 defines a new mRNA export pathway in cancer cells. (PMID: 25662211) Viphakone N. … Wilson S.A. (Nucleic Acids Res. 2015) 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for SHKBP1 Gene

Sources for SHKBP1 Gene

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