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Aliases for SH3BP5 Gene

Aliases for SH3BP5 Gene

  • SH3 Domain Binding Protein 5 2 3 5
  • SH3 Domain-Binding Protein That Preferentially Associates With BTK 3 4
  • SH3-Domain Binding Protein 5 (BTK-Associated) 2 3
  • SH3BP-5 3 4
  • SAB 3 4
  • SH3 Domain-Binding Protein 5 3
  • SH3 Binding Protein 2

External Ids for SH3BP5 Gene

Previous GeneCards Identifiers for SH3BP5 Gene

  • GC03M015225
  • GC03M015271
  • GC03M015296

Summaries for SH3BP5 Gene

GeneCards Summary for SH3BP5 Gene

SH3BP5 (SH3 Domain Binding Protein 5) is a Protein Coding gene. Diseases associated with SH3BP5 include Endocardium Disease and Agammaglobulinemia, X-Linked 1. Among its related pathways are B cell receptor signaling pathway (KEGG). GO annotations related to this gene include SH3 domain binding and protein kinase inhibitor activity. An important paralog of this gene is SH3BP5L.

UniProtKB/Swiss-Prot for SH3BP5 Gene

  • Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytoplasmic signaling in B-cells. May be involved in BCR-induced apoptotic cell death.

Gene Wiki entry for SH3BP5 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3BP5 Gene

Genomics for SH3BP5 Gene

Regulatory Elements for SH3BP5 Gene

Enhancers for SH3BP5 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
GH03G015287 2.1 FANTOM5 Ensembl ENCODE dbSUPER 24.4 +48.9 48943 10.9 HNRNPUL1 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZBTB7B YY1 CBX5 SH3BP5 CAPN7 EAF1 RPS24P10 SH3BP5-AS1 RNU6-454P COL6A4P1 RNU6-1024P EAF1-AS1 RPS3AP53
GH03G015299 1.8 FANTOM5 Ensembl ENCODE dbSUPER 24.6 +40.5 40457 2.7 PKNOX1 INSM2 KLF17 ZBTB40 ZNF121 GATA2 ZNF366 RCOR1 FOS ETV6 SH3BP5 EAF1 RNU6-454P EAF1-AS1 COLQ ANKRD28 CAPN7 NR2C2 GC03P015339 PIR49400
GH03G015313 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +25.5 25547 5.1 HDGF TBP PKNOX1 WRNIP1 BMI1 ZBTB40 ZNF121 ETV6 RELB IKZF2 SH3BP5 EAF1 SH3BP5-AS1 EAF1-AS1 COLQ CAPN7 NR2C2 ANKRD28 GC03P015339 PIR49400
GH03G015323 1.6 Ensembl ENCODE dbSUPER 14.9 +12.6 12639 11.1 HDGF PKNOX1 FOXA2 WRNIP1 SIN3A FEZF1 ZBTB7B YY1 ZNF143 FOS RBSN SH3BP5 CAPN7 METTL6 RPS3AP53 GC03P015339 PIR49400
GH03G015274 1.4 Ensembl ENCODE dbSUPER 16.1 +65.7 65682 2.0 HDAC1 HDGF ATF1 NFRKB BMI1 ZNF766 RELB IKZF2 CEBPB NCOA1 SH3BP5 RNU6-454P CAPN7 COL6A4P1 RNU6-1024P SH3BP5-AS1 PIR49400 GC03P015339
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SH3BP5 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SH3BP5 gene promoter:

Genomic Location for SH3BP5 Gene

Chromosome:
3
Start:
15,254,353 bp from pter
End:
15,341,394 bp from pter
Size:
87,042 bases
Orientation:
Minus strand

Genomic View for SH3BP5 Gene

Genes around SH3BP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3BP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3BP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3BP5 Gene

Proteins for SH3BP5 Gene

  • Protein details for SH3BP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60239-3BP5_HUMAN
    Recommended name:
    SH3 domain-binding protein 5
    Protein Accession:
    O60239
    Secondary Accessions:
    • B3KQW6
    • Q5JWV9

    Protein attributes for SH3BP5 Gene

    Size:
    455 amino acids
    Molecular mass:
    50425 Da
    Quaternary structure:
    • Interacts with BTK (PubMed:9571151, PubMed:10339589). Interacts with all isoforms of MAPK8, MAPK9, MAPK10 and MAPK12 (PubMed:12167088). Interacts with GDP-bound and nucleotide-free forms of RAB11A (PubMed:26506309).
    SequenceCaution:
    • Sequence=BAA25922.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SH3BP5 Gene

    Alternative splice isoforms for SH3BP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3BP5 Gene

Post-translational modifications for SH3BP5 Gene

  • Ubiquitination at Lys173, Lys215, and isoforms=2248
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SH3BP5

No data available for DME Specific Peptides for SH3BP5 Gene

Domains & Families for SH3BP5 Gene

Protein Domains for SH3BP5 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60239

UniProtKB/Swiss-Prot:

3BP5_HUMAN :
  • Belongs to the SH3BP5 family.
Family:
  • Belongs to the SH3BP5 family.
genes like me logo Genes that share domains with SH3BP5: view

No data available for Gene Families for SH3BP5 Gene

Function for SH3BP5 Gene

Molecular function for SH3BP5 Gene

GENATLAS Biochemistry:
SH3-domain binding protein 5,BTK-associated transregulator
UniProtKB/Swiss-Prot Function:
Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytoplasmic signaling in B-cells. May be involved in BCR-induced apoptotic cell death.

Gene Ontology (GO) - Molecular Function for SH3BP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004860 protein kinase inhibitor activity IDA 10339589
GO:0005515 protein binding IPI 9571151
GO:0017124 SH3 domain binding IBA,IEA --
genes like me logo Genes that share ontologies with SH3BP5: view
genes like me logo Genes that share phenotypes with SH3BP5: view

Animal Models for SH3BP5 Gene

MGI Knock Outs for SH3BP5:

Animal Model Products

CRISPR Products

miRNA for SH3BP5 Gene

miRTarBase miRNAs that target SH3BP5

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH3BP5 Gene

Localization for SH3BP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3BP5 Gene

Mitochondrion.

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 SH3BP5 gene
Compartment Confidence
mitochondrion 4
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SH3BP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm TAS 9571151
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with SH3BP5: view

Pathways & Interactions for SH3BP5 Gene

genes like me logo Genes that share pathways with SH3BP5: view

Pathways by source for SH3BP5 Gene

1 BioSystems pathway for SH3BP5 Gene

Gene Ontology (GO) - Biological Process for SH3BP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0007165 signal transduction TAS 9571151
GO:0035556 intracellular signal transduction IEA,IDA 10339589
GO:0061099 negative regulation of protein tyrosine kinase activity IBA --
genes like me logo Genes that share ontologies with SH3BP5: view

No data available for SIGNOR curated interactions for SH3BP5 Gene

Drugs & Compounds for SH3BP5 Gene

(5) Drugs for SH3BP5 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AVL-292 Pharma Btk inhibitor 0
CGI-1746 Pharma Btk inhibitor 0
RN486 Pharma Btk inhibitor,potent and selective 0

(3) ApexBio Compounds for SH3BP5 Gene

Compound Action Cas Number
AVL-292 Btk inhibitor 1202757-89-8
CGI-1746 Btk inhibitor 910232-84-7
RN486 Btk inhibitor,potent and selective 1242156-23-5
genes like me logo Genes that share compounds with SH3BP5: view

Transcripts for SH3BP5 Gene

Unigene Clusters for SH3BP5 Gene

SH3-domain binding protein 5 (BTK-associated):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3BP5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - -
SP6: - - - - - -
SP7: -
SP8: - - -
SP9:
SP10:

Relevant External Links for SH3BP5 Gene

GeneLoc Exon Structure for
SH3BP5
ECgene alternative splicing isoforms for
SH3BP5

Expression for SH3BP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SH3BP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SH3BP5 Gene

This gene is overexpressed in Serum (24.7), Liver, secretome (11.0), Liver (9.6), and Lung (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH3BP5 Gene



NURSA nuclear receptor signaling pathways regulating expression of SH3BP5 Gene:

SH3BP5

SOURCE GeneReport for Unigene cluster for SH3BP5 Gene:

Hs.257761

mRNA Expression by UniProt/SwissProt for SH3BP5 Gene:

O60239-3BP5_HUMAN
Tissue specificity: Highly expressed in testis and ovaries. It is also expressed in a variety of tissues including spleen, lymph node, thymus, bone marrow, fetal liver, colon, small intestine and prostate.

Evidence on tissue expression from TISSUES for SH3BP5 Gene

  • Adrenal gland(4.4)
  • Nervous system(4.3)
  • Lung(3.3)
  • Kidney(2.2)
  • Blood(2.1)
  • Skin(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with SH3BP5: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3BP5 Gene

Orthologs for SH3BP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3BP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3BP5 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia SH3BP5 34 35
  • 92.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SH3BP5 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3bp5 34
  • 88.35 (n)
mouse
(Mus musculus)
Mammalia Sh3bp5 16 35 34
  • 87.99 (n)
cow
(Bos Taurus)
Mammalia SH3BP5 34 35
  • 82.7 (n)
oppossum
(Monodelphis domestica)
Mammalia SH3BP5 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3BP5 35 34
  • 78.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3BP5 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3bp5 34
  • 73.89 (n)
MGC75731 34
zebrafish
(Danio rerio)
Actinopterygii sh3bp5b 34 35
  • 73.87 (n)
Dr.7417 34
fruit fly
(Drosophila melanogaster)
Insecta pcs 36
  • 48 (a)
CG14408 35
  • 16 (a)
OneToOne
Species where no ortholog for SH3BP5 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SH3BP5 Gene

ENSEMBL:
Gene Tree for SH3BP5 (if available)
TreeFam:
Gene Tree for SH3BP5 (if available)

Paralogs for SH3BP5 Gene

Paralogs for SH3BP5 Gene

(2) SIMAP similar genes for SH3BP5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SH3BP5: view

Variants for SH3BP5 Gene

Sequence variations from dbSNP and Humsavar for SH3BP5 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000062355 -- 15,336,474(+) ACAAA(-/GGAGATCCATTAGCCTGAT)GATCA intron-variant
rs1000105699 -- 15,305,798(+) AACTA(G/T)CAACT intron-variant
rs1000140124 -- 15,260,004(+) GGCTC(A/G)CCCAG intron-variant, nc-transcript-variant
rs1000174705 -- 15,304,504(+) GGAAA(G/T)GAGTT intron-variant
rs1000175717 -- 15,257,496(+) CATAT(C/G)CCAAA intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for SH3BP5 Gene

Variant ID Type Subtype PubMed ID
dgv852e199 CNV deletion 23128226
esv2113465 CNV deletion 18987734
esv2724962 CNV deletion 23290073
esv2724963 CNV deletion 23290073
esv3595382 CNV loss 21293372
esv3595383 CNV loss 21293372
esv3951 CNV loss 18987735
nsv1153248 CNV deletion 26484159
nsv428413 CNV gain 18775914
nsv522980 CNV loss 19592680
nsv524536 CNV loss 19592680
nsv834621 CNV gain 17160897

Variation tolerance for SH3BP5 Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.03; 50.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3BP5 Gene

Human Gene Mutation Database (HGMD)
SH3BP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3BP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3BP5 Gene

Disorders for SH3BP5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SH3BP5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
endocardium disease
agammaglobulinemia, x-linked 1
  • bruton-type agammaglobulinemia
tabes dorsalis
  • posterior spinal sclerosis
paralytic squint
  • incomitant dissociation
tertiary neurosyphilis
  • late neurosyphilis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SH3BP5

Genetic Association Database (GAD)
SH3BP5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH3BP5
genes like me logo Genes that share disorders with SH3BP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SH3BP5 Gene

Publications for SH3BP5 Gene

  1. Bruton's tyrosine kinase activity is negatively regulated by Sab, the Btk-SH3 domain-binding protein. (PMID: 10339589) Yamadori T. … Tsukada S. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 64
  2. Identification and characterization of a novel SH3-domain binding protein, Sab, which preferentially associates with Bruton's tyrosine kinase (Btk). (PMID: 9571151) Matsushita M. … Tsukada S. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 64
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SH3BP5 Gene

Sources for SH3BP5 Gene

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