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Q9H1X1

- RSPH9_HUMAN

UniProt

Q9H1X1 - RSPH9_HUMAN

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
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    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

    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

    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. 1 interaction.
    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.
    HOGENOMiHOG000258906.
    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

    MDADSLLLSL ELASGSGQGL SPDRRASLLT SLMLVKRDYR YDRVLFWGRI    50
    LGLVADYYIA QGLSEDQLAP RKTLYSLNCT EWSLLPPATE EMVAQSSVVK 100
    GRFMGDPSYE YEHTELQKVN EGEKVFEEEI VVQIKEETRL VSVIDQIDKA 150
    VAIIPRGALF KTPFGPTHVN RTFEGLSLSE AKKLSSYFHF REPVELKNKT 200
    LLEKADLDPS LDFMDSLEHD IPKGSWSIQM ERGNALVVLR SLLWPGLTFY 250
    HAPRTKNYGY VYVGTGEKNM DLPFML 276
    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. 1 interaction.
    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.
    HOGENOMi HOG000258906.
    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

    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 1, 2014
    This is version 94 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