• Gene id: 9467

Gene Summary

• Gene Symbol: SH3BP5   Gene   UCSC   Ensembl
• Aliases: SAB, SH3BP-5
• Gene name: SH3 domain binding protein 5
• Alternate names: SH3 domain-binding protein 5, SH3 domain-binding protein that preferentially associates with BTK, SH3-domain binding protein 5 (BTK-associated),
• Gene location: 3p25.1 (15341379: 15254352)     Exons: 14     NC_000003.12
• OMIM: 605612

Protein Summary

• Protein general information: O60239  
  • Name: SH3 domain binding protein 5 (SH3BP 5) (SH3 domain binding protein that preferentially associates with BTK)
  • Length: 455  
  • Mass: 50425
  • 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. {ECO
• Sequence:

  MDAALKRSRSEEPAEILPPARDEEEEEEEGMEQGLEEEEEVDPRIQGELEKLNQSTDDINRRETELEDARQKFRS
  VLVEATVKLDELVKKIGKAVEDSKPYWEARRVARQAQLEAQKATQDFQRATEVLRAAKETISLAEQRLLEDDKRQ
  FDSAWQEMLNHATQRVMEAEQTKTRSELVHKETAARYNAAMGRMRQLEKKLKRAINKSKPYFELKAKYYVQLEQL
  KKTVDDLQAKLTLAKGEYKMALKNLEMISDEIHERRRSSAMGPRGCGVGAEGSSTSVEDLPGSKPEPDAISVASE
  AFEDDSCSNFVSEDDSETQSVSSFSSGPTSPSEMPDQFPAVVRPGSLDLPSPVSLSEFGMMFPVLGPRSECSGAS
  SPECEVERGDRAEGAENKTSDKANNNRGLSSSSGSGGSSKSQSSTSPEGQALENRMKQLSLQCSKGRDGIIADIK
  MVQIG

• Structural information:
  • Interpro: IPR007940  
  • PDB: 4H3B 6DJL 6IXE 6IXF 6IXG 6IXV
  • PDBsum: 4H3B 6DJL 6IXE 6IXF 6IXG 6IXV
  • STRING: ENSP00000373301
• Other Databases: GeneCards:  SH3BP5  Malacards:  SH3BP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061099	negative regulation of protein tyrosine kinase activity	IBA	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004860	protein kinase inhibitor activity	IBA	molecular function
GO:0030659	cytoplasmic vesicle membrane	IDA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0004860	protein kinase inhibitor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq