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    RSPH9 radial spoke head component 9 [ Homo sapiens (human) ]

    Gene ID: 221421, updated on 10-Dec-2024

    Summary

    Official Symbol
    RSPH9provided by HGNC
    Official Full Name
    radial spoke head component 9provided by HGNC
    Primary source
    HGNC:HGNC:21057
    See related
    Ensembl:ENSG00000172426 MIM:612648; AllianceGenome:HGNC:21057
    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
    CILD12; C6orf206; MRPS18AL1
    Summary
    This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
    Expression
    Biased expression in testis (RPKM 11.2), lung (RPKM 1.7) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RSPH9 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43645036..43672600)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43473769..43501327)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43612773..43640337)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43545520-43546020 Neighboring gene DNA polymerase eta Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43579698-43579923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24606 Neighboring gene GTP binding protein 2 Neighboring gene MAD2L1 binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43604555-43605342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43605343-43606129 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43612192-43612380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43639230-43639862 Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24612 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43655287-43655898 Neighboring gene uncharacterized LOC124901320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43670641-43671626 Neighboring gene EXOSC8 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30845

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axonemal central apparatus assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium movement involved in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in kinocilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium IC
    Inferred by Curator
    more info
    PubMed 
    located_in motile cilium 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 3 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    radial spoke head protein 9 homolog
    Names
    radial spoke head 9 homolog

    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_023436.1 RefSeqGene

      Range
      5007..32571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193341.2NP_001180270.1  radial spoke head protein 9 homolog isoform 2

      See identical proteins and their annotated locations for NP_001180270.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and has an alternate exon in the 3' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus compared to isoform 1; no homology support for C-ter.
      Source sequence(s)
      AK055407, AL136131, DA486918
      Consensus CDS
      CCDS55005.1
      UniProtKB/Swiss-Prot
      Q9H1X1
      Related
      ENSP00000361238.4, ENST00000372165.8
    2. NM_001424119.1NP_001411048.1  radial spoke head protein 9 homolog isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AL136131
    3. NM_001424120.1NP_001411049.1  radial spoke head protein 9 homolog isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136131
    4. NM_001424121.1NP_001411050.1  radial spoke head protein 9 homolog isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL136131
    5. NM_152732.5NP_689945.2  radial spoke head protein 9 homolog isoform 1

      See identical proteins and their annotated locations for NP_689945.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).
      Source sequence(s)
      AL136131, BC029519, DA486918
      Consensus CDS
      CCDS4905.1
      UniProtKB/Swiss-Prot
      A8K5T4, Q96NH9, Q9H1X1
      Related
      ENSP00000361236.4, ENST00000372163.5
      Conserved Domains (1) summary
      pfam04712
      Location:235274
      Radial_spoke; Radial spokehead-like protein

    RNA

    1. NR_187613.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136131
    2. NR_187614.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136131

    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
      43645036..43672600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43473769..43501327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)