• Gene id: 10656

Gene Summary

• Gene Symbol: KHDRBS3   Gene   UCSC   Ensembl
• Aliases: Etle, SALP, SLM-2, SLM2, T-STAR, TSTAR, etoile
• Gene name: KH RNA binding domain containing, signal transduction associated 3
• Alternate names: KH domain-containing, RNA-binding, signal transduction-associated protein 3, KH domain containing, RNA binding, signal transduction associated 3, RNA-binding protein T-Star, Sam68-like phosphotyrosine protein, T-STAR, sam68-like mammalian protein 2,
• Gene location: 8q24.23 (135457455: 135656515)     Exons: 17     NC_000008.11
• OMIM: 610421

Protein Summary

• Protein general information: O75525  
  • Name: KH domain containing, RNA binding, signal transduction associated protein 3 (RNA binding protein T Star) (Sam68 like mammalian protein 2) (SLM 2) (Sam68 like phosphotyrosine protein)
  • Length: 346  
  • Mass: 38800
  • Tissue specificity: Ubiquitous with higher expression in testis, skeletal muscle and brain. Expressed in the kidney only in podocytes, the glomerular epithelial cells of the kidney. Strongly expressed after meiosis. {ECO
• Sequence:

  MEEKYLPELMAEKDSLDPSFTHALRLVNQEIEKFQKGEGKDEEKYIDVVINKNMKLGQKVLIPVKQFPKFNFVGK
  LLGPRGNSLKRLQEETLTKMSILGKGSMRDKAKEEELRKSGEAKYFHLNDDLHVLIEVFAPPAEAYARMGHALEE
  IKKFLIPDYNDEIRQAQLQELTYLNGGSENADVPVVRGKPTLRTRGVPAPAITRGRGGVTARPVGVVVPRGTPTP
  RGVLSTRGPVSRGRGLLTPRARGVPPTGYRPPPPPPTQETYGEYDYDDGYGTAYDEQSYDSYDNSYSTPAQSGAD
  YYDYGHGLSEETYDSYGQEEWTNSRHKAPSARTAKGVYRDQPYGRY

• Structural information:
  • Protein Domains: (61..12-)
    (/note="KH"-)
  • Interpro: IPR004087  IPR004088  IPR036612  IPR032571  IPR032335  
  • PDB: 5EL3 5ELR 5ELS 5ELT 5EMO
  • PDBsum: 5EL3 5ELR 5ELS 5ELT 5EMO
  • STRING: ENSP00000348108
• Other Databases: GeneCards:  KHDRBS3  Malacards:  KHDRBS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
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: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: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: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: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: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: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: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:0048024	regulation of mRNA splicing, via spliceosome	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IMP	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray