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

Gene ID: 221421, updated on 17-Jun-2019

Summary

Official Symbol
RSPH9provided by HGNC
Official Full Name
radial spoke head 9 homologprovided by HGNC
Primary source
HGNC:HGNC:21057
See related
Ensembl:ENSG00000172426 MIM:612648
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

Genomic context

See RSPH9 in Genome Data Viewer
Location:
6p21.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (43645030..43672600)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43612767..43638935)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene DNA polymerase eta Neighboring gene GTP binding protein 2 Neighboring gene MAD2L1 binding protein Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene exosome component 8 pseudogene Neighboring gene vascular endothelial growth factor A

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30845

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium movement involved in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
9+2 motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axoneme IC
Inferred by Curator
more info
PubMed 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
motile cilium IC
Inferred by Curator
more info
PubMed 
radial spoke IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
radial spoke head protein 9 homolog

NCBI Reference Sequences (RefSeq)

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
    5001..30982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193341.1NP_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, DA486918
    Consensus CDS
    CCDS55005.1
    UniProtKB/Swiss-Prot
    Q9H1X1
    Related
    ENSP00000361238.4, ENST00000372165.8
  2. 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
    Q9H1X1
    Related
    ENSP00000361236.4, ENST00000372163.5
    Conserved Domains (1) summary
    pfam04712
    Location:235274
    Radial_spoke; Radial spokehead-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    43645030..43672600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248901.3XP_005248958.1  radial spoke head protein 9 homolog isoform X1

    See identical proteins and their annotated locations for XP_005248958.1

RNA

  1. XR_002956269.1 RNA Sequence

  2. XR_002956268.1 RNA Sequence

  3. XR_926099.2 RNA Sequence

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