Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	89765
Gene name	Radial spoke head component 1
Gene symbol	RSPH1
Synonyms (NCBI Gene)	CT79RSP44RSPH10ATSA2TSGA2
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

Show/Hide all (15)

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

Show/Hide all (30)

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

MIM	HGNC	e!Ensembl
609314	12371	ENSG00000160188

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Pathogenic	rs151107532	RCV005890401	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener syndrome	Pathogenic; Likely pathogenic	rs138320978, rs587777059, rs151107532	RCV000190923 RCV000190927 RCV000190924	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs151107532	RCV005890402	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs767700639, rs566463967, rs1334138475, rs587777635, rs727503394, rs1037411448, rs2517340869, rs2517333595, rs529633380, rs2517329452, rs1064792947, rs1060501861, rs1555875358, rs556286752, rs753105954 View all (4 more)	RCV002000090 RCV001960515 RCV001931855 RCV000705021 RCV000151743 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 24	Likely pathogenic; Pathogenic	rs146298259, rs587777635, rs727503394, rs144037391, rs753105954, rs138320978, rs587777058, rs587777059, rs151107532	RCV001824266 RCV000133520 RCV001333454 RCV000662169 RCV001784456 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RSPH1-related disorder	Likely pathogenic; Pathogenic	rs587777635, rs151107532	RCV003398779 RCV003974945	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 24	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia, Sickle Cell	Anemia	BEFREE	31733363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	24568568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	23993197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG	24568568		★★★★★ ★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 24	Ciliary Dyskinesia	UNIPROT_DG	23993197, 25186273		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 24	Ciliary Dyskinesia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 24	Ciliary Dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 24	Ciliary Dyskinesia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	23993197, 24518672, 24568568, 26139845		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	23993197, 24518672, 24568568, 25186273, 25789548	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	24568568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	23993197, 24518672, 24568568, 25473808		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	23993197		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	23993197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	23993197, 24518672, 24568568, 25473808, 25789548, 30896965		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	23993197		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recurrent sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	24568568, 30896965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RSPH1 (radial spoke head component 1)