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RSPH1 - radial spoke head component 1 Gene

Also Known as CT79; TSA2; RSP44; TSGA2; RSPH10A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 89765

About RSPH1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,472,486-42,496,224 (from NCBI)

This gene has 3 transcripts (splice variants), 193 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 13.7), lung (RPKM 8.0) and 12 other tissues.

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 dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

RSPH1 Products (2)

mRNA	Protein	Name
NM_001286506.2	NP_001273435.1	radial spoke head 1 homolog isoform 2
NM_080860.4	NP_543136.1	radial spoke head 1 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in axoneme assembly	IMP IMP: Inferred from mutant phenotype	23993197	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in motile cilium	IDA IDA: Inferred from direct assay	23993197	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RSPH1 Protein Structure

MORN

0
100
200
309 a.a.

Protein Preferred Names	Protein Names
radial spoke head 1 homolog	cancer/testis antigen 79

RSPH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RSPH1	Q8WYR4	MORN3	Homo sapiens	Q6PF18	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ciliary Dyskinesia, Primary, 24	CILD24 Primary Ciliary Dyskinesia 24 Ciliary Dyskinesia, Primary, 24, Without Situs Inversus Primary Ciliary Dyskinesia 24 Without Situs Inversus
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Bronchiectasis	Polynesian Bronchiectasis Kartagener Syndrome Bronchiectasis Nos
Otorrhea	Discharging Ear
Spherocytosis, Type 3	Hereditary Spherocytosis Type 3 SPH3 Hs3 Spherocytosis, Hereditary, 3 Hereditary Spherocytosis 3 Spherocytosis 3
Ciliary Dyskinesia, Primary, 1	CILD1 Pcd Primary Ciliary Dyskinesia 1 Kartagener Syndrome Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Immotile Cilia Syndrome Ics Polynesian Bronchiectasis Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus Ics1 Immotile Cilia Syndrome 1 Primary Ciliary Dyskinesia KTGS Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome Kartagener Type Primary Ciliary Dyskinesia Kartagener Type Siewert Syndrome Immotile Cilia Dyskinesia, Ciliary, Primary, Type 1 Ciliary Motility Disorders
Spherocytosis, Type 4	Hereditary Spherocytosis Type 4 SPH4 Hs4 Spherocytosis, Hereditary, 4 Hereditary Spherocytosis 4 Spherocytosis 4
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Kartagener Syndrome	Kartagener'S Syndrome
Cri-Du-Chat Syndrome	5p Deletion Syndrome 5p Partial Monosomy Syndrome Monosomy 5p Cat Cry Syndrome Chromosome 5p Deletion Syndrome Cri Du Chat Syndrome 5p- Syndrome 5p Minus Syndrome Chromosome 5p- Syndrome Chromosome 5 Short Arm Deletion Syndrome Chromosome 5p Deletion Deletion 5p Cri Du Chat 5p Partial Deletion Syndrome Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12302	RSPH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RSPH1	VGNC	VGNC:34182
Rattus norvegicus	RSPH1	RGD	RGD:1307712
Mus musculus	RSPH1	MGD	MGI:1194909
Felis catus	RSPH1	VGNC	VGNC:64790
Canis familiaris	RSPH1	VGNC	VGNC:45777
Macaca mulatta	RSPH1	VGNC	VGNC:77003
Others	RSPH1	NCBI