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    RSPH4A radial spoke head component 4A [ Homo sapiens (human) ]

    Gene ID: 345895, updated on 9-Dec-2024

    Summary

    Official Symbol
    RSPH4Aprovided by HGNC
    Official Full Name
    radial spoke head component 4Aprovided by HGNC
    Primary source
    HGNC:HGNC:21558
    See related
    Ensembl:ENSG00000111834 MIM:612647; AllianceGenome:HGNC:21558
    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
    RSHL3; CILD11; RSPH6B; dJ412I7.1
    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]
    Expression
    Biased expression in lung (RPKM 1.6), testis (RPKM 0.8) and 13 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RSPH4A in Genome Data Viewer
    Location:
    6q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (116616479..116632985)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (117779906..117816694)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (116937642..116954148)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex subunit 3L Neighboring gene calcium homeostasis modulator family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24996 Neighboring gene RWD domain containing 1 Neighboring gene MPRA-validated peak6052 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24998 Neighboring gene uncharacterized LOC124901386 Neighboring gene zinc finger containing ubiquitin peptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24999 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:117001971-117002954 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:117002955-117003936 Neighboring gene karyopherin subunit alpha 5 Neighboring gene uncharacterized LOC124901560

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ37974, MGC126303

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of ciliary planar beating movement pattern IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in radial spoke assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in 9+2 motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme IC
    Inferred by Curator
    more info
    PubMed 
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium IC
    Inferred by Curator
    more info
    PubMed 
    part_of radial spoke ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of radial spoke head ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of radial spoke head 1 IEA
    Inferred from Electronic Annotation
    more info
     
    part_of radial spoke head 2 IEA
    Inferred from Electronic Annotation
    more info
     
    part_of radial spoke head 3 IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    radial spoke head protein 4 homolog A
    Names
    radial spoke head 4 homolog A
    radial spoke head-like protein 3
    radial spokehead-like 3

    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_012934.1 RefSeqGene

      Range
      5001..21507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001010892.3NP_001010892.1  radial spoke head protein 4 homolog A isoform 1

      See identical proteins and their annotated locations for NP_001010892.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK095293, AK299754, CB851663
      Consensus CDS
      CCDS34521.1
      UniProtKB/Swiss-Prot
      B4DSI1, Q3KP24, Q5TD94, Q5TD95
      Related
      ENSP00000229554.5, ENST00000229554.10
      Conserved Domains (1) summary
      pfam04712
      Location:211693
      Radial_spoke; Radial spokehead-like protein
    2. NM_001161664.2NP_001155136.1  radial spoke head protein 4 homolog A isoform 2

      See identical proteins and their annotated locations for NP_001155136.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an exon in the 3' coding region compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK299754, BC106949, CB851663
      Consensus CDS
      CCDS55051.1
      UniProtKB/Swiss-Prot
      Q5TD94
      Related
      ENSP00000357570.4, ENST00000368581.8
      Conserved Domains (2) summary
      pfam04712
      Location:211554
      Radial_spoke; Radial spokehead-like protein
      cl26386
      Location:18217
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    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
      116616479..116632985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418725.1XP_047274681.1  radial spoke head protein 4 homolog A isoform X1

    RNA

    1. XR_007059261.1 RNA Sequence

    2. XR_007059262.1 RNA Sequence

    3. XR_007059263.1 RNA Sequence

    4. XR_007059264.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      117779906..117816694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355323.1XP_054211298.1  radial spoke head protein 4 homolog A isoform X2

    2. XM_054355324.1XP_054211299.1  radial spoke head protein 4 homolog A isoform X1

    3. XM_054355325.1XP_054211300.1  radial spoke head protein 4 homolog A isoform X3

    RNA

    1. XR_008487328.1 RNA Sequence