RSPH9 - radial spoke head component 9 Gene

Also Known as CILD12; C6orf206; MRPS18AL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 221421

About RSPH9

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,645,036-43,672,600 (from NCBI)

This gene has 2 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 11.2), lung (RPKM 1.7) and 1 other tissue.

Summary

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

RSPH9 Products (2)

mRNA Protein Name
NM_001193341.2 NP_001180270.1 radial spoke head protein 9 homolog isoform 2
NM_152732.5 NP_689945.2 radial spoke head protein 9 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
19200523 GOA
involved in cilium movement IMP
IMP: Inferred from mutant phenotype
19200523 GOA
Cellular Component GO Annotation Evidence References Source
located in 9+2 motile cilium IDA
IDA: Inferred from direct assay
26909801 GOA
located in axoneme IDA
IDA: Inferred from direct assay
26909801 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

RSPH9 Protein Structure

Radial_spoke

Radial_spoke: Radial spokehead-like protein (223 - 274)

  • 0
  • 100
  • 200
  • 276 a.a.
Protein Preferred Names Protein Names

radial spoke head protein 9 homolog

  • radial spoke head 9 homolog

RSPH9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RSPH9 Q9H1X1 LONP2 Homo sapiens Q86WA8
Anti Tag CoIP
33961781
Intra
RSPH9 Q9H1X1 LONP2 Homo sapiens Q86WA8
TAP
27173435
Intra
RSPH9 Q9H1X1 LONP2 Homo sapiens Q86WA8
Anti Tag CoIP
28514442
Intra
RSPH9 Q9H1X1 PNMA1 Homo sapiens Q8ND90
Y2H Prey Pooling
25416956
Intra
RSPH9 Q9H1X1 PNMA1 Homo sapiens Q8ND90
Validated Y2H
25416956
Intra
RSPH9 Q9H1X1 PNMA1 Homo sapiens Q8ND90
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ciliary Dyskinesia, Primary, 12

  • CILD12

  • Primary Ciliary Dyskinesia 12

  • Primary Ciliary Dyskinesia 12 Without Situs Inversus

  • Ciliary Dyskinesia, Primary, 12, Without Situs Inversus

  • Ics12

  • Immotile Cilia Syndrome 12

  • Dyskinesia, Ciliary, Primary, Type 12
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
Kartagener Syndrome

  • Kartagener'S Syndrome
Ciliary Dyskinesia, Primary, 10

  • Primary Ciliary Dyskinesia 10

  • CILD10

  • Primary Ciliary Dyskinesia 10 With Or Without Situs Inversus

  • Ciliary Dyskinesia, Primary, 10, With Or Without Situs Inversus

  • Ics10

  • Immotile Cilia Syndrome 10

  • Dyskinesia, Ciliary, Primary, 10
Situs Inversus

  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv
Bronchiectasis

  • Polynesian Bronchiectasis

  • Kartagener Syndrome

  • Bronchiectasis Nos
Ciliary Dyskinesia, Primary, 6

  • Primary Ciliary Dyskinesia 6

  • CILD6

  • Ics6

  • Immotile Cilia Syndrome 6

  • Dyskinesia, Ciliary, Primary, 6
Otorrhea

  • Discharging Ear
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
Paranasal Sinus Disease

  • Paranasal Sinus Diseases

  • Disorder Of Nasal Sinus
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
Middle Ear Disease

  • Middle Ear Anomaly

  • Disorder Of Middle Ear
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
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-RS12304 RSPH9 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RSPH9 VGNC VGNC:64795
Rattus norvegicus RSPH9 RGD RGD:1310693
Macaca mulatta RSPH9 VGNC VGNC:77072
Bos taurus RSPH9 VGNC VGNC:34187
Mus musculus RSPH9 MGD MGI:1922814
Canis familiaris RSPH9 VGNC VGNC:57231
Others RSPH9 NCBI