Rsph4a radial spoke head 4 homolog A (Chlamydomonas) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rsph4aprovided by MGI
Official Full Name: radial spoke head 4 homolog A (Chlamydomonas)provided by MGI
Primary source: MGI:MGI:3027894
See related: Ensembl:ENSMUSG00000039552 AllianceGenome:MGI:3027894
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rshl3; A230081C05
Summary: Involved in radial spoke assembly. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and maintenance of ciliary planar beating movement pattern. Located in 9+2 motile cilium and axoneme. Part of radial spoke head 1; radial spoke head 2; and radial spoke head 3. Is expressed in lateral ventricle choroid plexus; lung epithelium; metencephalon part of 4th ventricle choroid plexus; and nasal cavity respiratory epithelium. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 11. Orthologous to human RSPH4A (radial spoke head component 4A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung adult (RPKM 1.0), bladder adult (RPKM 0.7) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B1; 10 18.84 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (33781107..33792017)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (33905111..33916021)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results suggest Rsph4a is a generic component of radial spoke heads, and could explain the severe phenotype of human PCD patients with RSPH4A mutation.
Title: Rsph4a is essential for the triplet radial spoke head assembly of the mouse motile cilia.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in axoneme assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium movement	ISO Inferred from Sequence Orthology more info
involved_in cilium movement involved in cell motility	IEA Inferred from Electronic Annotation more info
involved_in epithelial cilium movement involved in extracellular fluid movement	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of ciliary planar beating movement pattern	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in radial spoke assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of radial spoke	ISS Inferred from Sequence or Structural Similarity more info
part_of radial spoke head	IDA Inferred from Direct Assay more info	PubMed
part_of radial spoke head	IMP Inferred from Mutant Phenotype more info	PubMed
part_of radial spoke head 1	IDA Inferred from Direct Assay more info	PubMed
part_of radial spoke head 2	IDA Inferred from Direct Assay more info	PubMed
part_of radial spoke head 3	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: radial spoke head protein 4 homolog A

Names: radial spoke head-like protein 3; radial spokehead-like 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.