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

    Gene ID: 83861, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See RSPH3 in Genome Data Viewer
    Location:
    6q25.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (158962980..159000202, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (160212959..160245813, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001346418.1NP_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_031924.8NP_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:46326
      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_2023_10

    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_047419393.1XP_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_054356513.1XP_054212488.1  radial spoke head protein 3 homolog isoform X1

    RNA

    1. XR_008487438.1 RNA Sequence

    2. XR_008487439.1 RNA Sequence