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Aliases for SH3BP4 Gene

Aliases for SH3BP4 Gene

  • SH3-Domain Binding Protein 4 2 3
  • BOG25 3 4 6
  • Transferrin Receptor-Trafficking Protein 3 4
  • EH-Binding Protein 10 3 4
  • TTP 3 4
  • SH3 Domain-Binding Protein 4 3
  • EHB10 4

External Ids for SH3BP4 Gene

Summaries for SH3BP4 Gene

Entrez Gene Summary for SH3BP4 Gene

  • This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]

GeneCards Summary for SH3BP4 Gene

SH3BP4 (SH3-Domain Binding Protein 4) is a Protein Coding gene. GO annotations related to this gene include identical protein binding and GDP-dissociation inhibitor activity. An important paralog of this gene is MACC1.

UniProtKB/Swiss-Prot for SH3BP4 Gene

  • May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may acts as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy.

Gene Wiki entry for SH3BP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3BP4 Gene

Genomics for SH3BP4 Gene

Genomic Location for SH3BP4 Gene

Start:
234,951,973 bp from pter
End:
235,055,714 bp from pter
Size:
103,742 bases
Orientation:
Plus strand

Genomic View for SH3BP4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SH3BP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3BP4 Gene

Regulatory Elements for SH3BP4 Gene

Proteins for SH3BP4 Gene

  • Protein details for SH3BP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0V3-SH3B4_HUMAN
    Recommended name:
    SH3 domain-binding protein 4
    Protein Accession:
    Q9P0V3
    Secondary Accessions:
    • O95082
    • Q309A3
    • Q53QD0
    • Q53TD1

    Protein attributes for SH3BP4 Gene

    Size:
    963 amino acids
    Molecular mass:
    107496 Da
    Quaternary structure:
    • Homodimer or homooligomer. Interacts with DNM2, EPS15, clathrin, the adapter protein complex 2/AP-2 and TFRC. Interacts with the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD; the interaction is most probably direct, preferentially occurs with their inactive GDP-bound form and is negatively regulated by amino acids.
    Miscellaneous:
    • Overexpression or depletion of SH3BP4 result in a specific decrease of the transferrin receptor endocytosis that can be rescued by DNM2 overexpression

    Alternative splice isoforms for SH3BP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3BP4 Gene

Proteomics data for SH3BP4 Gene at MOPED

Post-translational modifications for SH3BP4 Gene

  • Phosphorylated upon EGF stimulation. Phosphorylation prevents interaction with DNM2.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys657

Other Protein References for SH3BP4 Gene

No data available for DME Specific Peptides for SH3BP4 Gene

Domains for SH3BP4 Gene

Protein Domains for SH3BP4 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9P0V3

UniProtKB/Swiss-Prot:

SH3B4_HUMAN
Domain:
  • The SH3 domain mediates localization to the clathrin-coated pits and vesicles. The SH3 domain mediates interaction with DNM2 and the cytoplasmic part of TFRC with a lower affinity. The SH3 domain also mediates interaction with RRAGB, RRAGC and is required for the negative regulation of mTORC1:
    • Q9P0V3
  • Contains 1 SH3 domain.:
    • Q9P0V3
genes like me logo Genes that share domains with SH3BP4: view

No data available for Gene Families for SH3BP4 Gene

Function for SH3BP4 Gene

Molecular function for SH3BP4 Gene

GENATLAS Biochemistry: SMC homology domain 3 (SH3) binding protein 4,expressed by corneal fibroblast and other tissues with higher levels in pancreas,placenta,heart,kidney,localized in the nucleus,may be involved in a newly cascade of proteins involved in endocytosis,intracellular sorting and the cell cycle
UniProtKB/Swiss-Prot Function: May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may acts as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy.

Gene Ontology (GO) - Molecular Function for SH3BP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005092 GDP-dissociation inhibitor activity IMP 22575674
GO:0005515 protein binding IPI 16325581
GO:0017016 Ras GTPase binding IPI 22575674
GO:0042802 identical protein binding IPI 16325581
genes like me logo Genes that share ontologies with SH3BP4: view
genes like me logo Genes that share phenotypes with SH3BP4: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SH3BP4 Gene

Localization for SH3BP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3BP4 Gene

Membrane, clathrin-coated pit. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus. Note=Specifically associated with transferrin receptor-containing clathrin-coated pits and clathrin-coated vesicles. May also localize to the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3BP4 Gene COMPARTMENTS Subcellular localization image for SH3BP4 gene
Compartment Confidence
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for SH3BP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 22575674
GO:0005905 coated pit IEA --
GO:0030136 clathrin-coated vesicle IEA --
GO:0031410 cytoplasmic vesicle --
genes like me logo Genes that share ontologies with SH3BP4: view

Pathways for SH3BP4 Gene

SuperPathways for SH3BP4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SH3BP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0008285 negative regulation of cell proliferation IMP 22575674
GO:0010508 positive regulation of autophagy IMP 22575674
GO:0030308 negative regulation of cell growth IMP 22575674
GO:0032007 negative regulation of TOR signaling IMP 22575674
genes like me logo Genes that share ontologies with SH3BP4: view

No data available for Pathways by source for SH3BP4 Gene

Transcripts for SH3BP4 Gene

Unigene Clusters for SH3BP4 Gene

SH3-domain binding protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SH3BP4 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: -
SP6:
SP7: - - - - - - - -
SP8:
SP9: -
SP10:

Relevant External Links for SH3BP4 Gene

GeneLoc Exon Structure for
SH3BP4
ECgene alternative splicing isoforms for
SH3BP4

Expression for SH3BP4 Gene

mRNA expression in normal human tissues for SH3BP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3BP4 Gene

This gene is overexpressed in Minor Salivary Gland (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH3BP4 Gene

SOURCE GeneReport for Unigene cluster for SH3BP4 Gene Hs.516777

mRNA Expression by UniProt/SwissProt for SH3BP4 Gene

Q9P0V3-SH3B4_HUMAN
Tissue specificity: Expressed in all tissues tested with higher expression in pancreas. Expressed by retinal pigment epithelial cells (at protein level).
genes like me logo Genes that share expressions with SH3BP4: view

Orthologs for SH3BP4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SH3BP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3BP4 35
  • 99.27 (n)
  • 99.48 (a)
SH3BP4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SH3BP4 35
  • 87.26 (n)
  • 91.9 (a)
SH3BP4 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3BP4 35
  • 87.84 (n)
  • 92 (a)
SH3BP4 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3bp4 35
  • 85.92 (n)
  • 91.88 (a)
Sh3bp4 16
Sh3bp4 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3BP4 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3BP4 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3bp4 35
  • 86.26 (n)
  • 91.99 (a)
chicken
(Gallus gallus)
Aves SH3BP4 35
  • 77.71 (n)
  • 83.8 (a)
SH3BP4 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3BP4 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3bp4 35
  • 68.86 (n)
  • 73.54 (a)
Str.458 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7319 35
zebrafish
(Danio rerio)
Actinopterygii Dr.17077 35
sh3bp4 36
  • 66 (a)
OneToMany
sh3bp4a 35
  • 67.92 (n)
  • 72.99 (a)
sh3bp4a 36
  • 71 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1683 36
  • 26 (a)
OneToMany
Species with no ortholog for SH3BP4:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SH3BP4 Gene

ENSEMBL:
Gene Tree for SH3BP4 (if available)
TreeFam:
Gene Tree for SH3BP4 (if available)

Paralogs for SH3BP4 Gene

Paralogs for SH3BP4 Gene

Selected SIMAP similar genes for SH3BP4 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SH3BP4 Gene

genes like me logo Genes that share paralogs with SH3BP4: view

Variants for SH3BP4 Gene

Sequence variations from dbSNP and Humsavar for SH3BP4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs8691 -- 235,055,633(-) CAAAT(A/G)AAATT utr-variant-3-prime
rs729866 -- 234,990,715(+) TTGAC(A/G)GGGCT intron-variant
rs744615 -- 234,990,548(+) CATGC(A/G)GGTCT intron-variant
rs890652 -- 234,964,903(-) CTGCC(A/G)GGCGT intron-variant
rs890653 -- 234,964,899(-) CAGGC(C/G)TCGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SH3BP4 Gene

Variant ID Type Subtype PubMed ID
nsv527654 CNV Gain 19592680
nsv876025 CNV Loss 21882294
esv2721678 CNV Deletion 23290073
nsv460140 CNV Loss 19166990
esv2721679 CNV Deletion 23290073
esv2721680 CNV Deletion 23290073
esv2721681 CNV Deletion 23290073
esv3796 CNV Deletion 18987735
esv7240 CNV Loss 19470904
esv993755 CNV Deletion 20482838
esv1367526 CNV Deletion 17803354
nsv3220 CNV Insertion 18451855
esv2721682 CNV Deletion 23290073
nsv214423 CNV Loss 16902084
esv2721684 CNV Deletion 23290073

Relevant External Links for SH3BP4 Gene

HapMap Linkage Disequilibrium report
SH3BP4
Human Gene Mutation Database (HGMD)
SH3BP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3BP4 Gene

Disorders for SH3BP4 Gene

Relevant External Links for SH3BP4

Genetic Association Database (GAD)
SH3BP4
Human Genome Epidemiology (HuGE) Navigator
SH3BP4
genes like me logo Genes that share disorders with SH3BP4: view

No data available for UniProtKB/Swiss-Prot for SH3BP4 Gene

Publications for SH3BP4 Gene

  1. Cloning, chromosomal localization, and characterization of cDNA from a novel gene, SH3BP4, expressed by human corneal fibroblasts. (PMID: 10644451) Dunlevy J.R. … Hassell J.R. (Genomics 1999) 2 3 4 23
  2. Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. (PMID: 9303539) Salcini A.E. … Di Fiore P.P. (Genes Dev. 1997) 3 4
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  4. TTP specifically regulates the internalization of the transferrin receptor. (PMID: 16325581) Tosoni D. … Di Fiore P.P. (Cell 2005) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for SH3BP4 Gene

Sources for SH3BP4 Gene

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