Q9H1X1 (RSPH9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Radial spoke head protein 9 homolog

Gene names

Name:	RSPH9
Synonyms:	C6orf206, MRPS18AL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	276 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › cilium axoneme Probable. Note: Radial spoke Probable.
Involvement in disease	Primary ciliary dyskinesia 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.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Primary ciliary dyskinesia
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium axoneme assembly Inferred from mutant phenotype Ref.5. Source: BHF-UCL cilium movement Inferred from mutant phenotype Ref.5. Source: BHF-UCL
Cellular_component	cilium axoneme Inferred by curator Ref.5. Source: BHF-UCL cytoskeleton Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 276	276	Radial spoke head protein 9 homolog		PRO_0000089561
Natural variations
	Alternative sequence	132 – 146	15	Missing in isoform 2.		VSP_042934
	Alternative sequence	226 – 276	51	WSIQM…LPFML → EAVVQGDFTWLLSRCGFGWP CSWDSCSVSMRVLEHPDGEG QCPGGAAQPALAGPHLLPCS PHQELWLRLRGHWREEHGLA LHAIEWEPAWMFLNRV in isoform 2.		VSP_042935
	Natural variant	261	1	V → I. Ref.1 Corresponds to variant rs16896629 [ dbSNP | Ensembl ].		VAR_050815
	Natural variant	268	1	Missing in CILD12. Ref.5		VAR_055236

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 3C158E7994CF84C5	FASTA	276	31,292
	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
	Isoform 2 [UniParc]. Checksum: 349031BB3EC6D7D1	FASTA	306	34,430
	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 VIDKAVAIIP RGALFKTPFG PTHVNRTFEG LSLSEAKKLS SYFHFREPVE 190 200 210 220 230 240 LKNKTLLEKA DLDPSLDFMD SLEHDIPKGS EAVVQGDFTW LLSRCGFGWP CSWDSCSVSM 250 260 270 280 290 300 RVLEHPDGEG QCPGGAAQPA LAGPHLLPCS PHQELWLRLR GHWREEHGLA LHAIEWEPAW MFLNRV

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00005262. IPI00005268.
RefSeq	NP_001180270.1. NM_001193341.1. NP_689945.2. NM_152732.4.
UniGene	Hs.534585.
3D structure databases
ProteinModelPortal	Q9H1X1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000361236.
PTM databases
PhosphoSite	Q9H1X1.
Polymorphism databases
DMDM	73917724.
Proteomic databases
PaxDb	Q9H1X1.
PRIDE	Q9H1X1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372163; ENSP00000361236; ENSG00000172426. ENST00000372165; ENSP00000361238; ENSG00000172426.
GeneID	221421.
KEGG	hsa:221421.
UCSC	uc003ovw.2. human.
Organism-specific databases
CTD	221421.
GeneCards	GC06P043612.
HGNC	HGNC:21057. RSPH9.
HPA	HPA031703.
MIM	612648. gene. 612650. phenotype.
neXtProt	NX_Q9H1X1.
Orphanet	244. Primary ciliary dyskinesia.
PharmGKB	PA164725569.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47404.
HOGENOM	HOG000258906.
OMA	HAIEWEP.
Gene expression databases
ArrayExpress	Q9H1X1.
Bgee	Q9H1X1.
CleanEx	HS_C6orf206.
Genevestigator	Q9H1X1.
GermOnline	ENSG00000172426. Homo sapiens.
Family and domain databases
InterPro	IPR006802. Radial_spoke. [Graphical view]
Pfam	PF04712. Radial_spoke. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	221421.
NextBio	91328.
SOURCE	Search...

Entry information

Entry name

RSPH9_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.