• Gene id: 83861

Gene Summary

• Gene Symbol: RSPH3   Gene   UCSC   Ensembl
• Aliases: CILD32, RSHL2, RSP3, dJ111C20.1
• Gene name: radial spoke head 3
• Alternate names: radial spoke head protein 3 homolog, A-kinase anchor protein RSPH3, radial spoke 3 homolog, radial spoke head 3 homolog, radial spoke head-like protein 2,
• Gene location: 6q25.3 (159000425: 158947011)     Exons: 11     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was fir
• OMIM: 615876

Protein Summary

• Protein general information: Q86UC2  
  • Name: Radial spoke head protein 3 homolog (A kinase anchor protein RSPH3) (Radial spoke head like protein 2)
  • Length: 560  
  • Mass: 63687
• Sequence:

  MTVKPAKAASLARNLAKRRRTYLGGAAGRSQEPEVPCAAVLPGKPGDRNCPEFPPPDRTLGCWATDAAPAAGLCG
  AGSEPSIAPTSCAGNLPSRPPPLLSPLLASRNPCPWHYLHLSGSHNTLAPTCFKAKLHRKRGSQPPDMASALTDR
  TSRAPSTYTYTSRPRALPCQRSRYRDSLTQPDEEPMHYGNIMYDRRVIRGNTYALQTGPLLGRPDSLELQRQREA
  RKRALARKQAQEQLRPQTPEPVEGRKHVDVQTELYLEEIADRIIEVDMECQTDAFLDRPPTPLFIPAKTGKDVAT
  QILEGELFDFDLEVKPVLEVLVGKTIEQSLLEVMEEEELANLRASQREYEELRNSERAEVQRLEEQERRHREEKE
  RRKKQQWEIMHKHNETSQKIAARAFAQRYLADLLPSVFGSLRDSGYFYDPIERDIEIGFLPWLMNEVEKTMEYSM
  VGRTVLDMLIREVVEKRLCMYEHGEDTHQSPEPEDEPGGPGAMTESLEASEFLEQSMSQTRELLLDGGYLQRTTY
  DRRSSQERKFMEERELLGQDEETAMRKSLGEEELS

• Structural information:
  • Interpro: IPR009290  
  • STRING: ENSP00000252655
• Other Databases: GeneCards:  RSPH3  Malacards:  RSPH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005929	cilium	IDA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	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:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Asthenoteratospermia	MIK: 32124190
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
32124190	Asthenoteratospermia	c.C799T: p.Arg267Cys		215 oligo-asthenospermia (OAT) patients	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R