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

Gene ID: 221421, updated on 5-Mar-2024

Summary

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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
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Genomic context

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See RSPH9 in Genome Data Viewer
Location:
6p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43645036..43672600)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43473769..43501327)
105.20220307 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 RNA polymerase I and III subunit C 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 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 24609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43639230-43639862 Neighboring gene DNA polymerase eta Neighboring gene MAD2L1 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24612 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43655287-43655898 Neighboring gene uncharacterized LOC124901320 Neighboring gene GTP binding protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43670641-43671626 Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene EXOSC8 pseudogene 1

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
  • 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. Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Reish O, et al. Ann Hum Genet, 2010 Mar. PMID 20070851, Free PMC Article
  2. Rsph9 is critical for ciliary radial spoke assembly and central pair microtubule stability. Zhu L, et al. Biol Cell, 2019 Feb. PMID 30383886
  3. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. Ziętkiewicz E, et al. PLoS One, 2012. PMID 22448264, Free PMC Article
  4. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Castleman VH, et al. Am J Hum Genet, 2009 Feb. PMID 19200523, Free PMC Article
  5. DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. Dougherty GW, et al. Am J Respir Cell Mol Biol, 2016 Aug. PMID 26909801, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations in RSPH9 leads to ultrastructural cilia defects and ciliary dyskinesia.
    Title: Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
  2. Study focused on an extended 5 generation Bedouin family, analysed mutation segregation, and calculated the age of the mutated allele in 2 families based on haplotypes and haplotype+microsatellite in an attempt to define the source of the mutation.
    Title: Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.
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 12
MedGen: C2675228 OMIM: 612650 GeneReviews: Primary Ciliary Dyskinesia
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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

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

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

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_023436.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001193341.2 → NP_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_001424119.1 → NP_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_001424120.1 → NP_001411049.1  radial spoke head protein 9 homolog isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL136131

  4. NM_001424121.1 → NP_001411050.1  radial spoke head protein 9 homolog isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL136131

  5. NM_152732.5 → NP_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:235 → 274
    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_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
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H1X1.1 GenPept UniProtKB/Swiss-Prot:Q9H1X1

Gene LinkOut

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