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Q5TD94

- RSH4A_HUMAN

UniProt

Q5TD94 - RSH4A_HUMAN

Protein

Radial spoke head protein 4 homolog A

Gene

RSPH4A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      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 4 homolog A
    Alternative name(s):
    Radial spoke head-like protein 3
    Gene namesi
    Name:RSPH4A
    Synonyms:RSHL3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21558. RSPH4A.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium axoneme Curated. Cell projectioncilium
    Note: Radial spoke.Curated

    GO - Cellular componenti

    1. axoneme Source: BHF-UCL
    2. cytoskeleton Source: UniProtKB-KW
    3. motile cilium Source: BHF-UCL
    4. nucleolus Source: HPA
    5. nucleus Source: HPA
    6. radial spoke Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]: 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti87 – 871P → S in CILD11. 1 Publication
    VAR_055235
    Natural varianti464 – 4641G → E in CILD11; unknown pathological significance.
    VAR_070565

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi612649. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA164725568.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 716716Radial spoke head protein 4 homolog APRO_0000313738Add
    BLAST

    Proteomic databases

    PaxDbiQ5TD94.
    PRIDEiQ5TD94.

    PTM databases

    PhosphoSiteiQ5TD94.

    Expressioni

    Tissue specificityi

    Expressed in trachea, lungs, and testes. Very strong expression is detected in nasal brushings.1 Publication

    Gene expression databases

    BgeeiQ5TD94.
    CleanExiHS_RSHL3.
    GenevestigatoriQ5TD94.

    Organism-specific databases

    HPAiHPA031196.
    HPA031197.
    HPA031198.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000229554.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5TD94.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi370 – 40536Glu-richAdd
    BLAST
    Compositional biasi507 – 58680Glu-richAdd
    BLAST

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG86997.
    HOGENOMiHOG000006653.
    InParanoidiQ5TD94.
    OMAiPWVKLPS.
    OrthoDBiEOG7K3TMX.
    PhylomeDBiQ5TD94.
    TreeFamiTF324531.

    Family and domain databases

    InterProiIPR006802. Radial_spoke.
    [Graphical view]
    PANTHERiPTHR13159. PTHR13159. 1 hit.
    PfamiPF04712. Radial_spoke. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5TD94-1) [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

    MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE    50
    TGRQSRSSRP WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA 100
    RQDLAAPPQS DRTTSVIPEA GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF 150
    QQSQQPKPHL CGRRDVSYNN AKQKELRFDV FQEEDSNSDY DLQQPAPGGS 200
    EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI LNERPENAVD 250
    IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD 300
    QELEDEIAEN ALPNVMESAF YFEQAGVGLG TDETYRIFLA LKQLTDTHPI 350
    QRCRFWGKIL GLEMNYIVAE VEFREGEDEE EVEEEDVAEE RDNGESEAHE 400
    DEEDELPKSF YKAPQAIPKE ESRTGANKYV YFVCNEPGRP WVKLPPVIPA 450
    QIVIARKIKK FFTGRLDAPI ISYPPFPGNE SNYLRAQIAR ISAGTHVSPL 500
    GFYQFGEEEG EEEEEAEGGR NSFEENPDFE GIQVIDLVES LSNWVHHVQH 550
    ILSQGRCNWF NSIQKNEEEE EEEDEEKDDS DYIEQEVGLP LLTPISEDLE 600
    IQNIPPWTTR LSSNLIPQYA IAVLQSNLWP GAYAFSNGKK FENFYIGWGH 650
    KYSPDNYTPP VPPPVYQEYP SGPEITEMDD PSVEEEQAFR AAQEAVLLAA 700
    ENEESEEDED EEDDYD 716

    Note: Gene prediction based on EST data.

    Length:716
    Mass (Da):80,733
    Last modified:December 21, 2004 - v1
    Checksum:iA7951A85FBE6F6E7
    GO
    Isoform 2 (identifier: Q5TD94-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         308-554: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:469
    Mass (Da):52,639
    Checksum:i1181D047713591D4
    GO
    Isoform 3 (identifier: Q5TD94-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         555-600: GRCNWFNSIQ...LLTPISEDLE → RFRIYPPGQH...PMAKSLKIST
         601-716: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:600
    Mass (Da):67,406
    Checksum:i526B72E99DBBEF5D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti87 – 871P → S in CILD11. 1 Publication
    VAR_055235
    Natural varianti149 – 1491T → S.
    Corresponds to variant rs13213314 [ dbSNP | Ensembl ].
    VAR_037715
    Natural varianti464 – 4641G → E in CILD11; unknown pathological significance.
    VAR_070565
    Natural varianti556 – 5561R → H.
    Corresponds to variant rs6927567 [ dbSNP | Ensembl ].
    VAR_037716
    Natural varianti589 – 5891L → P.1 Publication
    Corresponds to variant rs784133 [ dbSNP | Ensembl ].
    VAR_037717
    Natural varianti627 – 6271N → H.
    Corresponds to variant rs9488991 [ dbSNP | Ensembl ].
    VAR_037718
    Natural varianti700 – 7001A → V.
    Corresponds to variant rs9488992 [ dbSNP | Ensembl ].
    VAR_037719

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei308 – 554247Missing in isoform 2. CuratedVSP_030125Add
    BLAST
    Alternative sequencei555 – 60046GRCNW…SEDLE → RFRIYPPGQHGYPQISFHNM LLQSFNPTFGLEHMPSPMAK SLKIST in isoform 3. 1 PublicationVSP_030126Add
    BLAST
    Alternative sequencei601 – 716116Missing in isoform 3. 1 PublicationVSP_030127Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK299754 mRNA. Translation: BAG61643.1.
    AL132795 Genomic DNA. Translation: CAI20496.1.
    AL132795 Genomic DNA. Translation: CAI20497.1.
    BC106949 mRNA. Translation: AAI06950.1.
    CCDSiCCDS34521.1. [Q5TD94-1]
    CCDS55051.1. [Q5TD94-3]
    RefSeqiNP_001010892.1. NM_001010892.2. [Q5TD94-1]
    NP_001155136.1. NM_001161664.1. [Q5TD94-3]
    UniGeneiHs.160380.
    Hs.625134.

    Genome annotation databases

    EnsembliENST00000229554; ENSP00000229554; ENSG00000111834. [Q5TD94-1]
    ENST00000368580; ENSP00000357569; ENSG00000111834. [Q5TD94-2]
    ENST00000368581; ENSP00000357570; ENSG00000111834. [Q5TD94-3]
    GeneIDi345895.
    KEGGihsa:345895.
    UCSCiuc003pxe.2. human. [Q5TD94-1]
    uc010kee.2. human. [Q5TD94-3]

    Polymorphism databases

    DMDMi74746178.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK299754 mRNA. Translation: BAG61643.1 .
    AL132795 Genomic DNA. Translation: CAI20496.1 .
    AL132795 Genomic DNA. Translation: CAI20497.1 .
    BC106949 mRNA. Translation: AAI06950.1 .
    CCDSi CCDS34521.1. [Q5TD94-1 ]
    CCDS55051.1. [Q5TD94-3 ]
    RefSeqi NP_001010892.1. NM_001010892.2. [Q5TD94-1 ]
    NP_001155136.1. NM_001161664.1. [Q5TD94-3 ]
    UniGenei Hs.160380.
    Hs.625134.

    3D structure databases

    ProteinModelPortali Q5TD94.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000229554.

    PTM databases

    PhosphoSitei Q5TD94.

    Polymorphism databases

    DMDMi 74746178.

    Proteomic databases

    PaxDbi Q5TD94.
    PRIDEi Q5TD94.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000229554 ; ENSP00000229554 ; ENSG00000111834 . [Q5TD94-1 ]
    ENST00000368580 ; ENSP00000357569 ; ENSG00000111834 . [Q5TD94-2 ]
    ENST00000368581 ; ENSP00000357570 ; ENSG00000111834 . [Q5TD94-3 ]
    GeneIDi 345895.
    KEGGi hsa:345895.
    UCSCi uc003pxe.2. human. [Q5TD94-1 ]
    uc010kee.2. human. [Q5TD94-3 ]

    Organism-specific databases

    CTDi 345895.
    GeneCardsi GC06P116941.
    GeneReviewsi RSPH4A.
    HGNCi HGNC:21558. RSPH4A.
    HPAi HPA031196.
    HPA031197.
    HPA031198.
    MIMi 612647. gene.
    612649. phenotype.
    neXtProti NX_Q5TD94.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA164725568.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG86997.
    HOGENOMi HOG000006653.
    InParanoidi Q5TD94.
    OMAi PWVKLPS.
    OrthoDBi EOG7K3TMX.
    PhylomeDBi Q5TD94.
    TreeFami TF324531.

    Miscellaneous databases

    GeneWikii RSPH4A.
    GenomeRNAii 345895.
    NextBioi 98909.
    PROi Q5TD94.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q5TD94.
    CleanExi HS_RSHL3.
    Genevestigatori Q5TD94.

    Family and domain databases

    InterProi IPR006802. Radial_spoke.
    [Graphical view ]
    PANTHERi PTHR13159. PTHR13159. 1 hit.
    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] (ISOFORM 1), VARIANT PRO-589.
      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. "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 3).
    4. Cited for: IDENTIFICATION, FUNCTION, SUBCELLULAR LOCATION, VARIANT CILD11 SER-87.
    5. "Founder mutation in RSPH4A identified in patients of Hispanic descent with Primary Ciliary Dyskinesia."
      Daniels M.L., Leigh M.W., Davis S.D., Armstrong M.C., Carson J.L., Hazucha M., Dell S.D., Eriksson M., Collins F.S., Knowles M.R., Zariwala M.A.
      Hum. Mutat. 34:1352-1356(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CILD11.
    6. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiRSH4A_HUMAN
    AccessioniPrimary (citable) accession number: Q5TD94
    Secondary accession number(s): B4DSI1, Q3KP24, Q5TD95
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 82 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