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Q9NVR5

- KTU_HUMAN

UniProt

Q9NVR5 - KTU_HUMAN

Protein

Protein kintoun

Gene

DNAAF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (03 Mar 2009)
      Previous versions | rss
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    Functioni

    Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. axonemal dynein complex assembly Source: UniProtKB
    2. bacterial-type flagellum-dependent cell motility Source: UniProtKB
    3. cilium-dependent cell motility Source: UniProtKB
    4. response to retinoic acid Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein kintoun
    Alternative name(s):
    Dynein assembly factor 2, axonemal
    Gene namesi
    Name:DNAAF2
    Synonyms:C14orf104, KTU
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20188. DNAAF2.

    Subcellular locationi

    Cytoplasm 1 Publication
    Note: Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 10 (CILD10) [MIM:612518]: 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 randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. 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.

    Keywords - Diseasei

    Ciliopathy, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi612518. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA134910310.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 837837Protein kintounPRO_0000089911Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei461 – 4611Phosphoserine1 Publication
    Modified residuei467 – 4671Phosphoserine1 Publication
    Modified residuei640 – 6401Phosphoserine1 Publication
    Modified residuei641 – 6411Phosphoserine1 Publication
    Modified residuei773 – 7731Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NVR5.
    PaxDbiQ9NVR5.
    PRIDEiQ9NVR5.

    PTM databases

    PhosphoSiteiQ9NVR5.

    Expressioni

    Gene expression databases

    BgeeiQ9NVR5.
    CleanExiHS_C14orf104.
    GenevestigatoriQ9NVR5.

    Organism-specific databases

    HPAiHPA002894.
    HPA004113.

    Interactioni

    Subunit structurei

    Interacts with DNAI2 and HSPA1A By similarity. Interacts with DYX1C1.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi120471. 3 interactions.
    DIPiDIP-59041N.
    IntActiQ9NVR5. 2 interactions.
    STRINGi9606.ENSP00000298292.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NVR5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the PIH1 family. Kintoun subfamily.Curated

    Phylogenomic databases

    eggNOGiNOG40282.
    HOGENOMiHOG000094570.
    HOVERGENiHBG108080.
    InParanoidiQ9NVR5.
    OMAiCLDSRKP.
    OrthoDBiEOG7CRTP9.
    PhylomeDBiQ9NVR5.
    TreeFamiTF336215.

    Family and domain databases

    InterProiIPR012981. PIH1.
    [Graphical view]
    PANTHERiPTHR22997. PTHR22997. 1 hit.
    PfamiPF08190. PIH1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NVR5-1) [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

    MAKAAASSSL EDLDLSGEEV QRLTSAFQDP EFRRMFSQYA EELTDPENRR    50
    RYEAEITALE RERGVEVRFV HPEPGHVLRT SLDGARRCFV NVCSNALVGA 100
    PSSRPGSGGD RGAAPGSHWS LPYSLAPGRE YAGRSSSRYM VYDVVFHPDA 150
    LALARRHEGF RQMLDATALE AVEKQFGVKL DRRNAKTLKA KYKGTPEAAV 200
    LRTPLPGVIP ARPDGEPKGP LPDFPYPYQY PAAPGPRAPS PPEAALQPAP 250
    TEPRYSVVQR HHVDLQDYRC SRDSAPSPVP HELVITIELP LLRSAEQAAL 300
    EVTRKLLCLD SRKPDYRLRL SLPYPVDDGR GKAQFNKARR QLVVTLPVVL 350
    PAARREPAVA VAAAAPEESA DRSGTDGQAC ASAREGEAGP ARSRAEDGGH 400
    DTCVAGAAGS GVTTLGDPEV APPPAAAGEE RVPKPGEQDL SRHAGSPPGS 450
    VEEPSPGGEN SPGGGGSPCL SSRSLAWGSS AGRESARGDS SVETREESEG 500
    TGGQRSACAM GGPGTKSGEP LCPPLLCNQD KETLTLLIQV PRIQPQSLQG 550
    DLNPLWYKLR FSAQDLVYSF FLQFAPENKL STTEPVISIS SNNAVIELAK 600
    SPESHGHWRE WYYGVNNDSL EERLFVNEEN VNEFLEEVLS SPFKQSMSLT 650
    PPLIEVLQVT DNKIQINAKL QECSNSDQLQ GKEERVNEES HLTEKEYIEH 700
    CNTPTTDSDS SIAVKALQID SFGLVTCFQQ ESLDVSQMIL GKSQQPESKM 750
    QSEFIKEKSA TCSNEEKDNL NESVITEEKE TDGDHLSSLL NKTTVHNIPG 800
    FDSIKETNMQ DGSVQVIKDH VTNCAFSFQN SLLYDLD 837
    Length:837
    Mass (Da):91,114
    Last modified:March 3, 2009 - v2
    Checksum:i55C2F2F709F55FFC
    GO
    Isoform 2 (identifier: Q9NVR5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         622-669: Missing.

    Note: May be due to exon skipping.

    Show »
    Length:789
    Mass (Da):85,600
    Checksum:i99E7AA353B4CD616
    GO

    Sequence cautioni

    The sequence BAA91684.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAD66572.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti403 – 4031C → G in AAH13322. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti62 – 621E → D.
    Corresponds to variant rs2985684 [ dbSNP | Ensembl ].
    VAR_057788
    Natural varianti768 – 7681D → G.
    Corresponds to variant rs9989177 [ dbSNP | Ensembl ].
    VAR_024309

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei622 – 66948Missing in isoform 2. 2 PublicationsVSP_008390Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    FJ158843 mRNA. Translation: ACN30493.1.
    BX248264 mRNA. Translation: CAD62592.1.
    BX248765 mRNA. Translation: CAD66572.1. Different initiation.
    AK001425 mRNA. Translation: BAA91684.1. Different initiation.
    AL139099 Genomic DNA. No translation available.
    BC013322 mRNA. Translation: AAH13322.2.
    BC011400 mRNA. Translation: AAH11400.2.
    CCDSiCCDS45100.1. [Q9NVR5-2]
    CCDS9691.2. [Q9NVR5-1]
    RefSeqiNP_001077377.1. NM_001083908.1. [Q9NVR5-2]
    NP_060609.2. NM_018139.2. [Q9NVR5-1]
    UniGeneiHs.231761.

    Genome annotation databases

    EnsembliENST00000298292; ENSP00000298292; ENSG00000165506. [Q9NVR5-1]
    ENST00000406043; ENSP00000384862; ENSG00000165506. [Q9NVR5-2]
    GeneIDi55172.
    KEGGihsa:55172.
    UCSCiuc001wws.4. human. [Q9NVR5-1]
    uc001wwt.4. human. [Q9NVR5-2]

    Polymorphism databases

    DMDMi224471834.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    FJ158843 mRNA. Translation: ACN30493.1 .
    BX248264 mRNA. Translation: CAD62592.1 .
    BX248765 mRNA. Translation: CAD66572.1 . Different initiation.
    AK001425 mRNA. Translation: BAA91684.1 . Different initiation.
    AL139099 Genomic DNA. No translation available.
    BC013322 mRNA. Translation: AAH13322.2 .
    BC011400 mRNA. Translation: AAH11400.2 .
    CCDSi CCDS45100.1. [Q9NVR5-2 ]
    CCDS9691.2. [Q9NVR5-1 ]
    RefSeqi NP_001077377.1. NM_001083908.1. [Q9NVR5-2 ]
    NP_060609.2. NM_018139.2. [Q9NVR5-1 ]
    UniGenei Hs.231761.

    3D structure databases

    ProteinModelPortali Q9NVR5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120471. 3 interactions.
    DIPi DIP-59041N.
    IntActi Q9NVR5. 2 interactions.
    STRINGi 9606.ENSP00000298292.

    PTM databases

    PhosphoSitei Q9NVR5.

    Polymorphism databases

    DMDMi 224471834.

    Proteomic databases

    MaxQBi Q9NVR5.
    PaxDbi Q9NVR5.
    PRIDEi Q9NVR5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298292 ; ENSP00000298292 ; ENSG00000165506 . [Q9NVR5-1 ]
    ENST00000406043 ; ENSP00000384862 ; ENSG00000165506 . [Q9NVR5-2 ]
    GeneIDi 55172.
    KEGGi hsa:55172.
    UCSCi uc001wws.4. human. [Q9NVR5-1 ]
    uc001wwt.4. human. [Q9NVR5-2 ]

    Organism-specific databases

    CTDi 55172.
    GeneCardsi GC14M050092.
    GeneReviewsi DNAAF2.
    H-InvDB HIX0011631.
    HGNCi HGNC:20188. DNAAF2.
    HPAi HPA002894.
    HPA004113.
    MIMi 612517. gene.
    612518. phenotype.
    neXtProti NX_Q9NVR5.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA134910310.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40282.
    HOGENOMi HOG000094570.
    HOVERGENi HBG108080.
    InParanoidi Q9NVR5.
    OMAi CLDSRKP.
    OrthoDBi EOG7CRTP9.
    PhylomeDBi Q9NVR5.
    TreeFami TF336215.

    Miscellaneous databases

    GeneWikii C14orf104.
    GenomeRNAii 55172.
    NextBioi 58957.
    PROi Q9NVR5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NVR5.
    CleanExi HS_C14orf104.
    Genevestigatori Q9NVR5.

    Family and domain databases

    InterProi IPR012981. PIH1.
    [Graphical view ]
    PANTHERi PTHR22997. PTHR22997. 1 hit.
    Pfami PF08190. PIH1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN CILD10, SUBCELLULAR LOCATION.
    2. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-424, NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-837 (ISOFORM 2).
      Tissue: Neuroblastoma.
    3. "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] OF 379-837 (ISOFORM 1).
    4. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] OF 386-837 (ISOFORM 2).
      Tissue: Bone marrow and Colon.
    6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461 AND SER-467, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-640; SER-641 AND SER-773, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: INTERACTION WITH DYX1C1.

    Entry informationi

    Entry nameiKTU_HUMAN
    AccessioniPrimary (citable) accession number: Q9NVR5
    Secondary accession number(s): B9WS54
    , C0JAP7, Q86TR1, Q86TY8, Q969Z5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2003
    Last sequence update: March 3, 2009
    Last modified: October 1, 2014
    This is version 99 of the entry and version 2 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 14
      Human chromosome 14: 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