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
  • SH3 Domain-Binding Protein 5 3 4
  • SH3BP-5 3 4
  • SAB 3 4
  • SH3 Binding Protein 2
  • SH3BP5 5
  • Sab 2

External Ids for SH3BP5 Gene

Previous GeneCards Identifiers for SH3BP5 Gene

  • GC03M015225
  • GC03M015271
  • GC03M015296
  • GC03M015231
  • GC03M015257
  • GC03M015442
  • GC03M015805
  • GC03M016135

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 Agammaglobulinemia, X-Linked and Adiaspiromycosis. Among its related pathways are B cell receptor signaling pathway (KEGG). Gene Ontology (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 Summary for SH3BP5 Gene

  • Functions as guanine nucleotide exchange factor (GEF) with specificity for RAB11A and RAB25 (PubMed:26506309, PubMed:30217979). 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 , Rfam classification and piRNA Summary for SH3BP5 Gene

Genomics for SH3BP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SH3BP5 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
GH03J015323 Promoter/Enhancer 2 EPDnew ENCODE CraniofacialAtlas dbSUPER 264.9 +12.6 12624 11.1 BCLAF1 IKZF1 MYC ZNF600 JUND ZNF580 ZNF592 ATF2 ZIC2 ZBTB10 SH3BP5 NR2C2 CCDC174 SH3BP5-AS1 METTL6 RPS3AP53 lnc-METTL6-6 SNODB932 CAPN7
GH03J015318 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 263.5 +20.9 20920 3.5 ZNF600 ZNF580 ZNF223 NFIC ZBTB10 CEBPB FEZF1 ZNF639 KLF7 KLF9 SH3BP5 ENSG00000270409 RPS3AP53 SNODB932 lnc-METTL6-6 CAPN7
GH03J015340 Promoter 0.8 Ensembl 250.7 +1.7 1679 0.2 ARNT NBN ELF1 ZNF316 NFE2 NCOA1 MAFG DPF2 SMARCE1 ATF3 HSALNG0024397 SH3BP5 RNU6-454P RF00026-666 lnc-EAF1-3 lnc-METTL6-6 CAPN7
GH03J015339 Enhancer 0.8 ENCODE 250.7 +1.4 1351 0.1 IKZF1 JUND ARNT NBN TAL1 ELF1 ZNF316 NFE2 ATF1 SMARCA4 HSALNG0024397 SH3BP5 RNU6-454P RF00026-666 lnc-EAF1-3 CAPN7
GH03J015342 Enhancer 0.4 ENCODE dbSUPER 250.7 -0.7 -656 0 ZNF121 HSALNG0024397 SH3BP5 lnc-EAF1-3 piR-55809-025 EAF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH3BP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH3BP5

Top Transcription factor binding sites by QIAGEN in the SH3BP5 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for SH3BP5 Gene

Latest Assembly
chr3:15,254,353-15,341,380
(GRCh38/hg38)
Size:
87,028 bases
Orientation:
Minus strand

Previous Assembly
chr3:15,295,860-15,382,887
(GRCh37/hg19 by Entrez Gene)
Size:
87,028 bases
Orientation:
Minus strand

chr3:15,296,360-15,382,875
(GRCh37/hg19 by Ensembl)
Size:
86,516 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, PubMed:30217979).
    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 Lys248
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SH3BP5 Gene

Domains & Families for SH3BP5 Gene

Gene Families for SH3BP5 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SH3BP5 Gene

InterPro:
Blocks:
  • SH3-binding 5

Suggested Antigen Peptide Sequences for SH3BP5 Gene

GenScript: Design optimal peptide antigens:
  • SH3 domain-binding protein that preferentially associates with BTK (3BP5_HUMAN)
  • cDNA FLJ33205 fis, clone ADRGL2007651, highly similar to SH3 domain-binding protein 5 (B3KQW6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60239

UniProtKB/Swiss-Prot:

3BP5_HUMAN :
  • The N-terminal half of the protein mediates interaction with RAB11A and functions as guanine nucleotide exchange factor. Four long alpha-helices (interrupted by a central kink) assemble into coiled coils, giving rise to a 'V' shape.
  • Belongs to the SH3BP5 family.
Domain:
  • The N-terminal half of the protein mediates interaction with RAB11A and functions as guanine nucleotide exchange factor. Four long alpha-helices (interrupted by a central kink) assemble into coiled coils, giving rise to a 'V' shape.
Family:
  • Belongs to the SH3BP5 family.
genes like me logo Genes that share domains with SH3BP5: view

Function for SH3BP5 Gene

Molecular function for SH3BP5 Gene

UniProtKB/Swiss-Prot Function:
Functions as guanine nucleotide exchange factor (GEF) with specificity for RAB11A and RAB25 (PubMed:26506309, PubMed:30217979). 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.
GENATLAS Biochemistry:
SH3-domain binding protein 5,BTK-associated transregulator

Phenotypes From GWAS Catalog for SH3BP5 Gene

Gene Ontology (GO) - Molecular Function for SH3BP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004860 protein kinase inhibitor activity IBA,IDA 10339589
GO:0005085 guanyl-nucleotide exchange factor activity IEA,IDA 30217979
GO:0005515 protein binding IPI 9571151
GO:0017124 SH3 domain binding 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:
  • Sh3bp5 Sh3bp5<tm1b(KOMP)Wtsi>

miRNA for SH3BP5 Gene

miRTarBase miRNAs that target SH3BP5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3BP5

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

Cytoplasmic vesicle membrane. Peripheral membrane protein. Mitochondrion. Note=Colocalizes with RAB11A on cytoplasmic vesicle membranes. {ECO:0000269 PubMed:30217979}.

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
nucleus 5
mitochondrion 4
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SH3BP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0016020 membrane IEA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with SH3BP5: view

Pathways & Interactions for SH3BP5 Gene

PathCards logo

SuperPathways for SH3BP5 Gene

SuperPathway Contained pathways
1 B cell receptor signaling pathway (KEGG)
genes like me logo Genes that share pathways with SH3BP5: view

Pathways by source for SH3BP5 Gene

1 BioSystems pathway for SH3BP5 Gene

SIGNOR curated interactions for SH3BP5 Gene

Other effect:

Gene Ontology (GO) - Biological Process for SH3BP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 9571151
GO:0035556 intracellular signal transduction IEA,IDA 10339589
GO:0061099 negative regulation of protein tyrosine kinase activity IBA 21873635
genes like me logo Genes that share ontologies with SH3BP5: view

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

Drug products for research

Transcripts for SH3BP5 Gene

mRNA/cDNA for SH3BP5 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3BP5

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

Expression for SH3BP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SH3BP5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Skin(3)
  • Liver(2.2)
  • Lymph node(2.2)
  • Kidney(2.2)
  • Intestine(2.1)
  • Bone marrow(2.1)
  • Muscle(2.1)
  • Blood(2)
  • Heart(2)
genes like me logo Genes that share expression patterns with SH3BP5: view

Primer products for research

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 29 30
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SH3BP5 29 30
  • 92.97 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SH3BP5 30
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sh3bp5 29
  • 88.35 (n)
Mouse
(Mus musculus)
Mammalia Sh3bp5 29 16 30
  • 87.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SH3BP5 29 30
  • 82.7 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SH3BP5 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SH3BP5 29 30
  • 78.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SH3BP5 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sh3bp5 29
  • 73.89 (n)
MGC75731 29
Zebrafish
(Danio rerio)
Actinopterygii sh3bp5b 29 30
  • 73.87 (n)
OneToOne
Dr.7417 29
Fruit Fly
(Drosophila melanogaster)
Insecta pcs 31
  • 48 (a)
CG14408 30
  • 16 (a)
OneToOne
Species where no ortholog for SH3BP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SH3BP5: view image
Alliance of Genome Resources:
Additional Orthologs for SH3BP5

Paralogs for SH3BP5 Gene

Paralogs for SH3BP5 Gene

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

  • 3BP5_HUMAN
  • C9J140_HUMAN
  • C9JK30_HUMAN
  • C9JNW0_HUMAN
  • F8WDU8_HUMAN
genes like me logo Genes that share paralogs with SH3BP5: view

Variants for SH3BP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH3BP5 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs116552208 Benign: not provided 15,256,306(-) A/G
NM_004844.5(SH3BP5):c.1151-3T>C
NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs1559420847 Likely Benign: not provided 15,256,289(-) CTTCTGCCCTGTCTCC
NM_004844.5(SH3BP5):c.1151-40_1164del
SPLICE_ACCEPTOR_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SH3BP5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SH3BP5 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SH3BP5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SH3BP5 Gene - From: COP

Disorder Aliases PubMed IDs
agammaglobulinemia, x-linked
  • xla
adiaspiromycosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22
  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 (Biochemical and biophysical research communications 1998) 2 3 4 22
  3. Structural determinants of Rab11 activation by the guanine nucleotide exchange factor SH3BP5. (PMID: 30217979) Jenkins ML … Burke JE (Nature communications 2018) 3 4
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SH3BP5 Gene

Sources for SH3BP5 Gene