RSPH1 - radial spoke head component 1 Gene

Homo sapiens

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

Gene ID: 89765 | Gene type: protein coding

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

RSPH1 Protein Structure

MORN

0
100
200
309 a.a.

Protein Preferred Names

Protein Names

radial spoke head 1 homolog

cancer/testis antigen 79

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

Bioactive Molecules (1)

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

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