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Q9H1X1

- RSPH9_HUMAN

UniProt

Q9H1X1 - RSPH9_HUMAN

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Protein

Radial spoke head protein 9 homolog

Gene

RSPH9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

  1. axoneme assembly Source: BHF-UCL
  2. cilium movement Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Radial spoke head protein 9 homolog
Gene namesi
Name:RSPH9
Synonyms:C6orf206, MRPS18AL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21057. RSPH9.

Subcellular locationi

Cytoplasmcytoskeletoncilium axoneme Curated
Note: Radial spoke.Curated

GO - Cellular componenti

  1. axoneme Source: BHF-UCL
  2. cytoskeleton Source: UniProtKB-KW
  3. motile cilium Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti268 – 2681Missing in CILD12. 1 Publication
VAR_055236

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MIMi612650. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA164725569.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 276276Radial spoke head protein 9 homologPRO_0000089561Add
BLAST

Proteomic databases

PaxDbiQ9H1X1.
PRIDEiQ9H1X1.

PTM databases

PhosphoSiteiQ9H1X1.

Expressioni

Gene expression databases

BgeeiQ9H1X1.
CleanExiHS_C6orf206.
GenevestigatoriQ9H1X1.

Organism-specific databases

HPAiHPA031703.

Interactioni

Protein-protein interaction databases

BioGridi128723. 12 interactions.
STRINGi9606.ENSP00000361236.

Structurei

3D structure databases

ProteinModelPortaliQ9H1X1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the flagellar radial spoke RSP9 family.Curated

Phylogenomic databases

eggNOGiNOG47404.
GeneTreeiENSGT00390000018686.
HOGENOMiHOG000258906.
InParanoidiQ9H1X1.
OMAiHAIEWEP.
OrthoDBiEOG7BKCVW.
PhylomeDBiQ9H1X1.
TreeFamiTF323644.

Family and domain databases

InterProiIPR006802. Radial_spoke.
[Graphical view]
PfamiPF04712. Radial_spoke. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H1X1-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MDADSLLLSL ELASGSGQGL SPDRRASLLT SLMLVKRDYR YDRVLFWGRI
60 70 80 90 100
LGLVADYYIA QGLSEDQLAP RKTLYSLNCT EWSLLPPATE EMVAQSSVVK
110 120 130 140 150
GRFMGDPSYE YEHTELQKVN EGEKVFEEEI VVQIKEETRL VSVIDQIDKA
160 170 180 190 200
VAIIPRGALF KTPFGPTHVN RTFEGLSLSE AKKLSSYFHF REPVELKNKT
210 220 230 240 250
LLEKADLDPS LDFMDSLEHD IPKGSWSIQM ERGNALVVLR SLLWPGLTFY
260 270
HAPRTKNYGY VYVGTGEKNM DLPFML
Length:276
Mass (Da):31,292
Last modified:March 1, 2001 - v1
Checksum:i3C158E7994CF84C5
GO
Isoform 2 (identifier: Q9H1X1-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:306
Mass (Da):34,430
Checksum:i349031BB3EC6D7D1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti261 – 2611V → I.1 Publication
Corresponds to variant rs16896629 [ dbSNP | Ensembl ].
VAR_050815
Natural varianti268 – 2681Missing in CILD12. 1 Publication
VAR_055236

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei132 – 14615Missing in isoform 2. 1 PublicationVSP_042934Add
BLAST
Alternative sequencei226 – 27651WSIQM…LPFML → EAVVQGDFTWLLSRCGFGWP CSWDSCSVSMRVLEHPDGEG QCPGGAAQPALAGPHLLPCS PHQELWLRLRGHWREEHGLA LHAIEWEPAWMFLNRV in isoform 2. 1 PublicationVSP_042935Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS4905.1. [Q9H1X1-1]
CCDS55005.1. [Q9H1X1-2]
RefSeqiNP_001180270.1. NM_001193341.1. [Q9H1X1-2]
NP_689945.2. NM_152732.4. [Q9H1X1-1]
UniGeneiHs.534585.

Genome annotation databases

EnsembliENST00000372163; ENSP00000361236; ENSG00000172426. [Q9H1X1-1]
ENST00000372165; ENSP00000361238; ENSG00000172426. [Q9H1X1-2]
GeneIDi221421.
KEGGihsa:221421.
UCSCiuc003ovw.2. human. [Q9H1X1-1]
uc003ovx.2. human. [Q9H1X1-2]

Polymorphism databases

DMDMi73917724.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS4905.1. [Q9H1X1-1 ]
CCDS55005.1. [Q9H1X1-2 ]
RefSeqi NP_001180270.1. NM_001193341.1. [Q9H1X1-2 ]
NP_689945.2. NM_152732.4. [Q9H1X1-1 ]
UniGenei Hs.534585.

3D structure databases

ProteinModelPortali Q9H1X1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128723. 12 interactions.
STRINGi 9606.ENSP00000361236.

PTM databases

PhosphoSitei Q9H1X1.

Polymorphism databases

DMDMi 73917724.

Proteomic databases

PaxDbi Q9H1X1.
PRIDEi Q9H1X1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372163 ; ENSP00000361236 ; ENSG00000172426 . [Q9H1X1-1 ]
ENST00000372165 ; ENSP00000361238 ; ENSG00000172426 . [Q9H1X1-2 ]
GeneIDi 221421.
KEGGi hsa:221421.
UCSCi uc003ovw.2. human. [Q9H1X1-1 ]
uc003ovx.2. human. [Q9H1X1-2 ]

Organism-specific databases

CTDi 221421.
GeneCardsi GC06P043612.
GeneReviewsi RSPH9.
HGNCi HGNC:21057. RSPH9.
HPAi HPA031703.
MIMi 612648. gene.
612650. phenotype.
neXtProti NX_Q9H1X1.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA164725569.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG47404.
GeneTreei ENSGT00390000018686.
HOGENOMi HOG000258906.
InParanoidi Q9H1X1.
OMAi HAIEWEP.
OrthoDBi EOG7BKCVW.
PhylomeDBi Q9H1X1.
TreeFami TF323644.

Miscellaneous databases

GeneWikii RSPH9.
GenomeRNAii 221421.
NextBioi 91328.
PROi Q9H1X1.
SOURCEi Search...

Gene expression databases

Bgeei Q9H1X1.
CleanExi HS_C6orf206.
Genevestigatori Q9H1X1.

Family and domain databases

InterProi IPR006802. Radial_spoke.
[Graphical view ]
Pfami PF04712. Radial_spoke. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: IDENTIFICATION, FUNCTION, VARIANT CILD12 LYS-268 DEL.

Entry informationi

Entry nameiRSPH9_HUMAN
AccessioniPrimary (citable) accession number: Q9H1X1
Secondary accession number(s): A8K5T4, Q96NH9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3