RSPH1 (radial spoke head component 1)

Gene

• Entrez ID: 89765
• Gene name: Radial spoke head component 1
• Gene symbol: RSPH1
• Synonyms (NCBI Gene): CT79, RSP44, RSPH10A, TSA2, TSGA2
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138320978	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant, stop gained
rs144037391	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs151107532	T>G	Pathogenic	Splice acceptor variant
rs200382776	C>T	Pathogenic, likely-pathogenic	Intron variant
rs556286752	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587777058	G>T	Pathogenic	Intron variant
rs587777059	TACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777060	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777635	C>T	Pathogenic	Stop gained, coding sequence variant
rs727503394	A>C	Likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs753105954	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs797045148	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1060501861	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1064792947	GCTCCGCAACTTACCAT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1555875358	CACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACTC>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0001520	Component	Outer dense fiber	IEA
GO:0001534	Component	Radial spoke	IEA
GO:0001535	Component	Radial spoke head	IEA
GO:0001535	Component	Radial spoke head	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	HDA	16780588, 21630459
GO:0005634	Component	Nucleus	IBA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007286	Process	Spermatid development	IBA
GO:0007286	Process	Spermatid development	IEA
GO:0031514	Component	Motile cilium	IBA
GO:0031514	Component	Motile cilium	IDA	23993197
GO:0031514	Component	Motile cilium	IEA
GO:0035082	Process	Axoneme assembly	IBA
GO:0035082	Process	Axoneme assembly	IMP	23993197
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0072687	Component	Meiotic spindle	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120336	Component	Radial spoke head 1	IEA
GO:0120338	Component	Radial spoke head 3	IEA

Other IDs

• MIM: 609314
• HGNC: 12371
• e!Ensembl: ENSG00000160188

Protein

• UniProt ID: Q8WYR4
• Protein name: Radial spoke head 1 homolog (Cancer/testis antigen 79) (CT79) (Male meiotic metaphase chromosome-associated acidic protein) (Meichroacidin) (Testis-specific gene A2 protein)
• Protein function: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.
• PDB: 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02493	MORN	26 → 43	MORN repeat	Repeat
  PF02493	MORN	44 → 66	MORN repeat	Repeat
  PF02493	MORN	67 → 89	MORN repeat	Repeat
  PF02493	MORN	90 → 112	MORN repeat	Repeat
  PF02493	MORN	113 → 133	MORN repeat	Repeat
  PF02493	MORN	137 → 152	MORN repeat	Repeat
  PF02493	MORN	159 → 181	MORN repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in trachea, lungs, airway brushings, and testes. {ECO:0000269|PubMed:23993197}.
• Sequence:

  MSDLGSEELEEEGENDIGEYEGGRNEAGERHGRGRARLPNGDTYEGSYEFGKRHGQGIYK
  FKNGARYIGEYVRNKKHGQGTFIYPDGSRYEGEWANDLRHGHGVYYYINNDTYTGEWFAH
  QRHGQGTYLYAETGSKYVGTWVNGQQEGTAELIHLNHRYQGKFLNKNPVGPGKYVFDVGC
  EQHGEYRLTDMERGEEEEEEELVTVVPKWKATQITELALWTPTLPKKPTSTDGPGQDAPG
  AESAGEPGEEAQALLEGFEGEMDMRPGDEDADVLREESREYDQEEFRYDMDEGNINSEEE
  ETRQSDLQD

• Sequence length: 309

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Pathogenic	rs151107532	RCV005890401
Kartagener syndrome	Pathogenic; Likely pathogenic	rs138320978, rs587777059, rs151107532	RCV000190923 RCV000190927 RCV000190924
Ovarian serous cystadenocarcinoma	Pathogenic	rs151107532	RCV005890402
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs767700639, rs566463967, rs1334138475, rs587777635, rs727503394, rs1037411448, rs2517340869, rs2517333595, rs529633380, rs2517329452, rs1064792947, rs1060501861, rs1555875358, rs556286752, rs753105954, rs138320978, rs587777058, rs151107532, rs2054181752	RCV002000090 RCV001960515 RCV001931855 RCV000705021 RCV000151743 RCV003070858 RCV002820672 RCV003058176 RCV003651141 RCV003856192 RCV000462475 RCV000474834 RCV000557685 RCV000533155 RCV000823003 RCV000543760 RCV003534322 RCV000467674 RCV001215632
Primary ciliary dyskinesia 24	Likely pathogenic; Pathogenic	rs146298259, rs587777635, rs727503394, rs144037391, rs753105954, rs138320978, rs587777058, rs587777059, rs151107532	RCV001824266 RCV000133520 RCV001333454 RCV000662169 RCV001784456 RCV000057509 RCV000057510 RCV000057511 RCV000057512
RSPH1-related disorder	Likely pathogenic; Pathogenic	rs587777635, rs151107532	RCV003398779 RCV003974945

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Uncertain significance	rs752263023	RCV005900111
Gastric cancer	Likely benign	rs150348163	RCV005917621
Malignant tumor of esophagus	Likely benign	rs150348163	RCV005917620
Melanoma	Uncertain significance	rs752263023	RCV005900112
Uterine carcinosarcoma	Likely benign	rs150348163	RCV005917622

Associations from Text Mining
Disease Name	Relationship Type	References
Bovine Respiratory Disease Complex	Associate	23993197
Bronchiectasis	Associate	24568568
Ciliary Motility Disorders	Associate	23993197, 24518672, 24568568, 25186273, 25789548
Cough	Associate	24568568
Immotile cilia syndrome due to defective radial spokes	Associate	23993197, 24518672
Melhem Fahl syndrome	Associate	24518672
Respiratory Distress Syndrome Newborn	Associate	24568568