RSPH3 (radial spoke head 3)

Gene

• Entrez ID: 83861
• Gene name: Radial spoke head 3
• Gene symbol: RSPH3
• Synonyms: CILD32, RSHL2, RSP3, dJ111C20.1
• Chromosome: 6
• Chromosome location: 6q25.3
• Summary: 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 first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142800871	T>C	Pathogenic	Intron variant, splice acceptor variant
rs760122351	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant, intron variant
rs796052117	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs796052118	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs796052119	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs875989825	CATT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1158185476	G>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs1554289977	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT528869	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619395	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT646139	hsa-miR-4634	HITS-CLIP	23824327
MIRT678386	hsa-miR-5698	HITS-CLIP	23824327
MIRT678387	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT678388	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT678389	hsa-miR-5693	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	27120127

Other IDs

• MIM: 615876
• HGNC: 21054
• e!Ensembl: ENSG00000130363

Protein

• UniProt ID: Q86UC2
• Protein name: Radial spoke head protein 3 homolog (A-kinase anchor protein RSPH3) (Radial spoke head-like protein 2)
• Protein function: Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06098	Radial_spoke_3	188 → 470	Radial spoke protein 3	Family

• Sequence:

  MTVKPAKAASLARNLAKRRRTYLGGAAGRSQEPEVPCAAVLPGKPGDRNCPEFPPPDRTL
  GCWATDAAPAAGLCGAGSEPSIAPTSCAGNLPSRPPPLLSPLLASRNPCPWHYLHLSGSH
  NTLAPTCFKAKLHRKRGSQPPDMASALTDRTSRAPSTYTYTSRPRALPCQRSRYRDSLTQ
  PDEEPMHYGNIMYDRRVIRGNTYALQTGPLLGRPDSLELQRQREARKRALARKQAQEQLR
  PQTPEPVEGRKHVDVQTELYLEEIADRIIEVDMECQTDAFLDRPPTPLFIPAKTGKDVAT
  QILEGELFDFDLEVKPVLEVLVGKTIEQSLLEVMEEEELANLRASQREYEELRNSERAEV
  QRLEEQERRHREEKERRKKQQWEIMHKHNETSQKIAARAFAQRYLADLLPSVFGSLRDSG
  YFYDPIERDIEIGFLPWLMNEVEKTMEYSMVGRTVLDMLIREVVEKRLCMYEHGEDTHQS
  PEPEDEPGGPGAMTESLEASEFLEQSMSQTRELLLDGGYLQRTTYDRRSSQERKFMEERE
  LLGQDEETAMRKSLGEEELS

• Sequence length: 560

Associated diseases

Disease name	Disease term	References
	Asthenozoospermia
	Asthma
	Bronchiectasis
	Respiratory Distress Syndrome, Newborn
	Ciliary Motility Disorders
	CILIARY DYSKINESIA, PRIMARY, 32	26073779
	Primary Ciliary Dyskinesia	26073779
	Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	26073779
	Congenital absence of spleen
	Congenital pectus excavatum
	Corneal dystrophy
	Bronchitis, Chronic
	Conductive hearing loss
	Hydrocephalus
	Kartagener Syndrome	26073779
	Polynesian Bronchiectasis	26073779
	Lung Diseases, Obstructive
	Nasal Polyps
	Otitis Media with Effusion
	Chronic otitis media
	Rhinitis
	Scoliosis, unspecified
	Chronic sinusitis
	Situs inversus totalis