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Q9H1X1 (RSPH9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Radial spoke head protein 9 homolog
Gene names
Name:RSPH9
Synonyms:C6orf206, MRPS18AL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length276 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.5

Subcellular location

Cytoplasmcytoskeletoncilium axoneme Probable. Note: Radial spoke Probable.

Involvement in disease

Ciliary dyskinesia, primary, 12 (CILD12) [MIM:612650]: A disorder characterized by 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the flagellar radial spoke RSP9 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H1X1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9H1X1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     132-146: Missing.
     226-276: WSIQMERGNA...EKNMDLPFML → EAVVQGDFTW...EPAWMFLNRV
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 276276Radial spoke head protein 9 homolog
PRO_0000089561

Natural variations

Alternative sequence132 – 14615Missing in isoform 2.
VSP_042934
Alternative sequence226 – 27651WSIQM…LPFML → EAVVQGDFTWLLSRCGFGWP CSWDSCSVSMRVLEHPDGEG QCPGGAAQPALAGPHLLPCS PHQELWLRLRGHWREEHGLA LHAIEWEPAWMFLNRV in isoform 2.
VSP_042935
Natural variant2611V → I. Ref.1
Corresponds to variant rs16896629 [ dbSNP | Ensembl ].
VAR_050815
Natural variant2681Missing in CILD12. Ref.5
VAR_055236

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 3C158E7994CF84C5

FASTA27631,292
        10         20         30         40         50         60 
MDADSLLLSL ELASGSGQGL SPDRRASLLT SLMLVKRDYR YDRVLFWGRI LGLVADYYIA 

        70         80         90        100        110        120 
QGLSEDQLAP RKTLYSLNCT EWSLLPPATE EMVAQSSVVK GRFMGDPSYE YEHTELQKVN 

       130        140        150        160        170        180 
EGEKVFEEEI VVQIKEETRL VSVIDQIDKA VAIIPRGALF KTPFGPTHVN RTFEGLSLSE 

       190        200        210        220        230        240 
AKKLSSYFHF REPVELKNKT LLEKADLDPS LDFMDSLEHD IPKGSWSIQM ERGNALVVLR 

       250        260        270 
SLLWPGLTFY HAPRTKNYGY VYVGTGEKNM DLPFML 

« Hide

Isoform 2 [UniParc].

Checksum: 349031BB3EC6D7D1
Show »

FASTA30634,430

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-261.
Tissue: Brain.
[2]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[5]"Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities."
Castleman V.H., Romio L., Chodhari R., Hirst R.A., de Castro S.C.P., Parker K.A., Ybot-Gonzalez P., Emes R.D., Wilson S.W., Wallis C., Johnson C.A., Herrera R.J., Rutman A., Dixon M., Shoemark A., Bush A., Hogg C., Gardiner R.M. expand/collapse author list , Reish O., Greene N.D.E., O'Callaghan C., Purton S., Chung E.M.K., Mitchison H.M.
Am. J. Hum. Genet. 84:197-209(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION, FUNCTION, VARIANT CILD12 LYS-268 DEL.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK055407 mRNA. Translation: BAB70918.1.
AK291399 mRNA. Translation: BAF84088.1.
AL136131 Genomic DNA. Translation: CAC19508.1.
AL136131 Genomic DNA. Translation: CAI19961.1.
CH471081 Genomic DNA. Translation: EAX04222.1.
BC029519 mRNA. Translation: AAH29519.1.
RefSeqNP_001180270.1. NM_001193341.1.
NP_689945.2. NM_152732.4.
UniGeneHs.534585.

3D structure databases

ProteinModelPortalQ9H1X1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128723. 1 interaction.
STRING9606.ENSP00000361236.

PTM databases

PhosphoSiteQ9H1X1.

Polymorphism databases

DMDM73917724.

Proteomic databases

PaxDbQ9H1X1.
PRIDEQ9H1X1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372163; ENSP00000361236; ENSG00000172426. [Q9H1X1-1]
ENST00000372165; ENSP00000361238; ENSG00000172426. [Q9H1X1-2]
GeneID221421.
KEGGhsa:221421.
UCSCuc003ovw.2. human. [Q9H1X1-1]
uc003ovx.2. human. [Q9H1X1-2]

Organism-specific databases

CTD221421.
GeneCardsGC06P043612.
HGNCHGNC:21057. RSPH9.
HPAHPA031703.
MIM612648. gene.
612650. phenotype.
neXtProtNX_Q9H1X1.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA164725569.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47404.
HOGENOMHOG000258906.
OMAHAIEWEP.
OrthoDBEOG7BKCVW.
PhylomeDBQ9H1X1.
TreeFamTF323644.

Gene expression databases

BgeeQ9H1X1.
CleanExHS_C6orf206.
GenevestigatorQ9H1X1.

Family and domain databases

InterProIPR006802. Radial_spoke.
[Graphical view]
PfamPF04712. Radial_spoke. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRSPH9.
GenomeRNAi221421.
NextBio91328.
PROQ9H1X1.
SOURCESearch...

Entry information

Entry nameRSPH9_HUMAN
AccessionPrimary (citable) accession number: Q9H1X1
Secondary accession number(s): A8K5T4, Q96NH9
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: March 1, 2001
Last modified: April 16, 2014
This is version 91 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM