RSPH4A - radial spoke head component 4A Gene

Also Known as RSHL3; CILD11; RSPH6B; dJ412I7.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 345895

About RSPH4A

Cytogenetic location: 6q22.1 Genomic coordinates (GRCh38): 6:116,616,479-116,632,985 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in lung (RPKM 1.6), testis (RPKM 0.8) and 13 other tissues.

Summary

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and Other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

RSPH4A Products (2)

mRNA Protein Name
NM_001010892.3 NP_001010892.1 radial spoke head protein 4 homolog A isoform 1
NM_001161664.2 NP_001155136.1 radial spoke head protein 4 homolog A isoform 2

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Verweise 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 Verweise Source
located in axoneme IDA
IDA: Inferred from direct assay
23255504 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

RSPH4A Protein Structure

Radial_spoke

Radial_spoke: Radial spokehead-like protein (209 - 694)

  • 0
  • 200
  • 400
  • 600
  • 716 a.a.
Protein Preferred Names Protein Names

radial spoke head protein 4 homolog A

  • radial spoke head 4 homolog A

Related Diseases

Diseases Alias
Ciliary Dyskinesia, Primary, 11

  • CILD11

  • Primary Ciliary Dyskinesia 11

  • Primary Ciliary Dyskinesia 11 Without Situs Inversus

  • Ciliary Dyskinesia, Primary, 11, Without Situs Inversus

  • Ics11

  • Immotile Cilia Syndrome 11

  • Dyskinesia, Ciliary, Primary, 11
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
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
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
Chromosome 17q12 Duplication Syndrome

  • 17q12 Microduplication Syndrome

  • Trisomy 17q12

  • 17q12 Duplication

  • 17q12 Microduplication

  • Dup(17)(Q12)

  • Recurrent Duplication Of 17q12

  • 17q12 Duplication Syndrome

  • 17q12 Recurrent Duplication
Ciliary Dyskinesia, Primary, 6

  • Primary Ciliary Dyskinesia 6

  • CILD6

  • Ics6

  • Immotile Cilia Syndrome 6

  • Dyskinesia, Ciliary, Primary, 6
Otorrhea

  • Discharging Ear
Paranasal Sinus Disease

  • Paranasal Sinus Diseases

  • Disorder Of Nasal Sinus
Middle Ear Disease

  • Middle Ear Anomaly

  • Disorder Of Middle Ear
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
Mastoiditis

  • Mastoiditis Nec
Yunis-Varon Syndrome

  • Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

  • Yunis Varon Syndrome

  • YVS

  • Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome

  • Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia

  • Yunis-Varón Syndrome
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)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS12303 RSPH4A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RSPH4A VGNC VGNC:64793
Macaca mulatta RSPH4A VGNC VGNC:77078
Mus musculus RSPH4A MGD MGI:3027894
Rattus norvegicus RSPH4A RGD RGD:1307229
Canis familiaris RSPH4A VGNC VGNC:45780
Bos taurus RSPH4A VGNC VGNC:34185
Others RSPH4A NCBI