Human Gene RSPH9 (ENST00000372163.5) Description and Page Index
  Description: Homo sapiens radial spoke head 9 homolog (RSPH9), transcript variant 1, mRNA. (from RefSeq NM_152732)
RefSeq Summary (NM_152732): 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].
Gencode Transcript: ENST00000372163.5
Gencode Gene: ENSG00000172426.16
Transcript (Including UTRs)
   Position: hg38 chr6:43,645,036-43,672,600 Size: 27,565 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr6:43,645,099-43,670,949 Size: 25,851 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr6:43,645,036-43,672,600)mRNA (may differ from genome)Protein (276 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Radial spoke head protein 9 homolog;
FUNCTION: Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme (Probable). Note=Radial spoke (Probable).
DISEASE: Defects in RSPH9 are the cause of primary ciliary dyskinesia type 12 (CILD12) [MIM:612650]. CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
SIMILARITY: Belongs to the flagellar radial spoke RSP9 family.

-  MalaCards Disease Associations
  MalaCards Gene Search: RSPH9
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 12* (919), primary ciliary dyskinesia* (547), ciliary dyskinesia, primary, 1, with or without situs inversus* (115), primary ciliary dyskinesia 12: rsph9-related primary ciliary dyskinesia* (100), kartagener syndrome* (96), situs inversus (7), visceral heterotaxy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.00 RPKM in Testis
Total median expression: 71.98 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.3063-0.386 Picture PostScript Text
3' UTR -680.101651-0.412 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006802 - Radial_spoke

Pfam Domains:
PF04712 - Radial spokehead-like protein

ModBase Predicted Comparative 3D Structure on Q9H1X1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0003341 cilium movement
GO:0035082 axoneme assembly
GO:0044458 motile cilium assembly
GO:0060294 cilium movement involved in cell motility

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0005930 axoneme
GO:0031514 motile cilium
GO:0042995 cell projection
GO:0097729 9+2 motile cilium

-  Descriptions from all associated GenBank mRNAs
  AK291399 - Homo sapiens cDNA FLJ77296 complete cds.
BC029519 - Homo sapiens radial spoke head 9 homolog (Chlamydomonas), mRNA (cDNA clone MGC:33840 IMAGE:5296237), complete cds.
AK055407 - Homo sapiens cDNA FLJ30845 fis, clone FEBRA2002727.
KJ895862 - Synthetic construct Homo sapiens clone ccsbBroadEn_05256 RSPH9 gene, encodes complete protein.
JD515847 - Sequence 496871 from Patent EP1572962.
JD432354 - Sequence 413378 from Patent EP1572962.
JD131117 - Sequence 112141 from Patent EP1572962.
JD358421 - Sequence 339445 from Patent EP1572962.
JD114213 - Sequence 95237 from Patent EP1572962.
JD410215 - Sequence 391239 from Patent EP1572962.
JD090453 - Sequence 71477 from Patent EP1572962.
JD049405 - Sequence 30429 from Patent EP1572962.
JD095452 - Sequence 76476 from Patent EP1572962.
JD415326 - Sequence 396350 from Patent EP1572962.
JD317781 - Sequence 298805 from Patent EP1572962.
JD148581 - Sequence 129605 from Patent EP1572962.
JD092691 - Sequence 73715 from Patent EP1572962.
JD080817 - Sequence 61841 from Patent EP1572962.
JD173953 - Sequence 154977 from Patent EP1572962.
JD320945 - Sequence 301969 from Patent EP1572962.
JD196667 - Sequence 177691 from Patent EP1572962.
JD123604 - Sequence 104628 from Patent EP1572962.
JD476460 - Sequence 457484 from Patent EP1572962.
JD215065 - Sequence 196089 from Patent EP1572962.
JD095703 - Sequence 76727 from Patent EP1572962.
JD383259 - Sequence 364283 from Patent EP1572962.
JD538649 - Sequence 519673 from Patent EP1572962.
JD493524 - Sequence 474548 from Patent EP1572962.
JD352120 - Sequence 333144 from Patent EP1572962.
JD079013 - Sequence 60037 from Patent EP1572962.
JD435579 - Sequence 416603 from Patent EP1572962.
JD325754 - Sequence 306778 from Patent EP1572962.
CU679680 - Synthetic construct Homo sapiens gateway clone IMAGE:100023320 3' read MRPS18A mRNA.
JD267135 - Sequence 248159 from Patent EP1572962.
JD373028 - Sequence 354052 from Patent EP1572962.
JD539920 - Sequence 520944 from Patent EP1572962.
JD173742 - Sequence 154766 from Patent EP1572962.
JD279905 - Sequence 260929 from Patent EP1572962.
JD233178 - Sequence 214202 from Patent EP1572962.
JD272354 - Sequence 253378 from Patent EP1572962.
JD434023 - Sequence 415047 from Patent EP1572962.
JD436315 - Sequence 417339 from Patent EP1572962.
JD413077 - Sequence 394101 from Patent EP1572962.
JD077605 - Sequence 58629 from Patent EP1572962.
JD217395 - Sequence 198419 from Patent EP1572962.
JD278622 - Sequence 259646 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5T4, C6orf206, MRPS18AL1, NM_152732, Q96NH9, Q9H1X1, RSPH9_HUMAN, uc003ovw.1, uc003ovw.2, uc003ovw.3, uc003ovw.4
UCSC ID: uc003ovw.4
RefSeq Accession: NM_152732
Protein: Q9H1X1 (aka RSPH9_HUMAN)
CCDS: CCDS4905.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RSPH9:
pcd (Primary Ciliary Dyskinesia)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.