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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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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