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RSPH3 radial spoke head 3 [ Homo sapiens (human) ]

Gene ID: 83861, updated on 3-Nov-2024

Summary

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Official Symbol
RSPH3provided by HGNC
Official Full Name
radial spoke head 3provided by HGNC
Primary source
HGNC:HGNC:21054
See related
Ensembl:ENSG00000130363 MIM:615876; AllianceGenome:HGNC:21054
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RSP3; RSHL2; CILD32; dJ111C20.1
Summary
The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in thyroid (RPKM 4.1), testis (RPKM 3.3) and 25 other tissues See more
Orthologs
all
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Genomic context

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See RSPH3 in Genome Data Viewer
Location:
6q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (158962980..159000202, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (160212959..160245813, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (159393903..159421234, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene YKT6 v-SNARE homolog (S. cerevisiae) pseudogene Neighboring gene RNA, U6 small nuclear 293, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr6:159357268-159357370 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:159419977-159420948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:159420949-159421920 Neighboring gene TAGAP antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25380 Neighboring gene MPRA-validated peak6278 silencer Neighboring gene MPRA-validated peak6279 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25381 Neighboring gene MPRA-validated peak6280 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:159461684-159462883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25383 Neighboring gene T cell activation RhoGTPase activating protein Neighboring gene uncharacterized LOC112267968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25385 Neighboring gene uncharacterized LOC124901449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17748

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genomic organisation and nervous system expression of radial spoke protein 3. Koukoulas I, et al. Gene, 2004 Jul 7. PMID 15225872
  2. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Jeanson L, et al. Am J Hum Genet, 2015 Jul 2. PMID 26073779, Free PMC Article
  3. LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes. Li Y, et al. Clin Genet, 2023 Dec. PMID 37804054
  4. Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection. Wu H, et al. J Assist Reprod Genet, 2020 Apr. PMID 32124190, Free PMC Article
  5. Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2. Jivan A, et al. J Biol Chem, 2009 Oct 23. PMID 19684019, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
    Title: Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
  2. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
    Title: RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
  3. Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2.
    Title: Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Primary ciliary dyskinesia 32
MedGen: C4225311 OMIM: 616481 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide interaction study of smoking and bladder cancer risk.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in 9+2 motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
part_of radial spoke head ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
radial spoke head protein 3 homolog
Names
A-kinase anchor protein RSPH3
radial spoke 3 homolog
radial spoke head 3 homolog
radial spoke head-like protein 2

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.

Genomic

  1. NG_051819.2 RefSeqGene

    Range
    5000..32331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346418.1 → NP_001333347.1  radial spoke head protein 3 homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons in the central coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AI028007, AK057655, AK057931, AL035530
    UniProtKB/Swiss-Prot
    Q86UC2, Q96LQ5, Q96LX2, Q9BX75

  2. NM_031924.8 → NP_114130.4  radial spoke head protein 3 homolog isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF353618, AL035530
    Consensus CDS
    CCDS5260.2
    UniProtKB/TrEMBL
    A0A0C4DFU3
    Related
    ENSP00000356036.1, ENST00000367069.7
    Conserved Domains (1) summary
    pfam06098
    Location:46 → 326
    Radial_spoke_3; Radial spoke protein 3

RNA

  1. NR_144434.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate intron in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI028007, AL035530

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    158962980..159000202 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419393.1 → XP_047275349.1  radial spoke head protein 3 homolog isoform X1

RNA

  1. XR_001743668.3 RNA Sequence

  2. XR_001743670.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    160212959..160245813 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356513.1 → XP_054212488.1  radial spoke head protein 3 homolog isoform X1

RNA

  1. XR_008487438.1 RNA Sequence

  2. XR_008487439.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86UC2.1 GenPept UniProtKB/Swiss-Prot:Q86UC2

Gene LinkOut

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