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Q8N9W5

- DAAF3_HUMAN

UniProt

Q8N9W5 - DAAF3_HUMAN

Protein

Dynein assembly factor 3, axonemal

Gene

DNAAF3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 3 (05 May 2009)
      Previous versions | rss
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    Functioni

    Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.1 Publication

    GO - Biological processi

    1. axonemal dynein complex assembly Source: UniProtKB
    2. motile cilium assembly Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dynein assembly factor 3, axonemal
    Gene namesi
    Name:DNAAF3
    Synonyms:C19orf51
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:30492. DNAAF3.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]: 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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti61 – 611L → P in CILD2. 1 Publication
    VAR_067300

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi606763. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA147358371.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 541541Dynein assembly factor 3, axonemalPRO_0000297580Add
    BLAST

    Proteomic databases

    PaxDbiQ8N9W5.
    PRIDEiQ8N9W5.

    PTM databases

    PhosphoSiteiQ8N9W5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N9W5.
    BgeeiQ8N9W5.
    CleanExiHS_C19orf51.
    GenevestigatoriQ8N9W5.

    Organism-specific databases

    HPAiHPA042118.

    Interactioni

    Protein-protein interaction databases

    BioGridi131582. 1 interaction.
    STRINGi9606.ENSP00000375600.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N9W5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the DNAAF3 family.Curated

    Phylogenomic databases

    eggNOGiNOG85125.
    HOGENOMiHOG000060295.
    HOVERGENiHBG107764.
    OMAiALINHRT.
    OrthoDBiEOG76QFH6.
    PhylomeDBiQ8N9W5.

    Family and domain databases

    InterProiIPR028235. DNAAF3_C.
    IPR027974. DUF4470.
    [Graphical view]
    PfamiPF14737. DUF4470. 1 hit.
    PF14740. DUF4471. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N9W5-1) [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

    MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL    50
    LLGSVDGRHL LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE 100
    PEKMGLQERS ETFLEVWGNA LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ 150
    LPWLSLRALK FRERDALEAV FRFWAGGEKG PQAFPMSRLW DSRLRHYLGS 200
    RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF ELRDSSAYHV 250
    PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DESLLRTSNG 300
    QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA 350
    APTPESFTVH FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC 400
    VAPGGNLIVE LARYLVDVRQ EQLQGFNTRV RELAQAAGFA PQTGARPSET 450
    FARFCKSQES ALGNTVPAVE PGTPPLDILA QPLEASNPAL EGLTQPLQGG 500
    TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG V 541
    Length:541
    Mass (Da):59,411
    Last modified:May 5, 2009 - v3
    Checksum:i0F0461F0F97D6F07
    GO
    Isoform 2 (identifier: Q8N9W5-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         77-95: FFVLENNLEAVARHMLIFS → VSWDEDESPDSRVLEGGRD
         96-541: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:95
    Mass (Da):10,389
    Checksum:i0F7AA25AC080E9F5
    GO
    Isoform 3 (identifier: Q8N9W5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARVM
         29-29: S → RDATVDALPTTMVPQPAVILPG
         350-350: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:608
    Mass (Da):66,570
    Checksum:i4B2C6BF46712069C
    GO
    Isoform 4 (identifier: Q8N9W5-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARVM

    Show »
    Length:588
    Mass (Da):64,484
    Checksum:iAE94AB27E08B6C75
    GO
    Isoform 5 (identifier: Q8N9W5-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-76: MTTPAGSGSG...AKFWPRRRFN → MKMRAQIPESLREEGIEILKPQ

    Show »
    Length:487
    Mass (Da):53,749
    Checksum:i7D4D4287AF0DA108
    GO

    Sequence cautioni

    The sequence BAC04177.1 differs from that shown. Reason: Probable cloning artifact.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti61 – 611L → P in CILD2. 1 Publication
    VAR_067300
    Natural varianti278 – 2781A → T.1 Publication
    VAR_067301
    Natural varianti292 – 2921E → G.
    Corresponds to variant rs2365725 [ dbSNP | Ensembl ].
    VAR_055306
    Natural varianti331 – 3311G → W.
    Corresponds to variant rs7508641 [ dbSNP | Ensembl ].
    VAR_055307
    Natural varianti365 – 3651D → N.2 Publications
    Corresponds to variant rs890872 [ dbSNP | Ensembl ].
    VAR_055308

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7676MTTPA…RRRFN → MKMRAQIPESLREEGIEILK PQ in isoform 5. 1 PublicationVSP_055742Add
    BLAST
    Alternative sequencei1 – 11M → MLPLLDSSKRAGTLGSGCGV PRVHSAALSREEGASRDIWR IKVWARVM in isoform 3 and isoform 4. 1 PublicationVSP_042976
    Alternative sequencei29 – 291S → RDATVDALPTTMVPQPAVIL PG in isoform 3. 1 PublicationVSP_039966
    Alternative sequencei77 – 9519FFVLE…MLIFS → VSWDEDESPDSRVLEGGRD in isoform 2. CuratedVSP_039967Add
    BLAST
    Alternative sequencei96 – 541446Missing in isoform 2. CuratedVSP_039968Add
    BLAST
    Alternative sequencei350 – 3501Missing in isoform 3. 1 PublicationVSP_039969

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK093458 mRNA. Translation: BAC04172.1.
    AK093473 mRNA. Translation: BAC04177.1. Sequence problems.
    AK097388 mRNA. Translation: BAC05029.1.
    AC010327 Genomic DNA. No translation available.
    BC016843 mRNA. Translation: AAH16843.1.
    BC063449 mRNA. Translation: AAH63449.1.
    CCDSiCCDS12918.2. [Q8N9W5-6]
    CCDS58680.1. [Q8N9W5-3]
    CCDS59422.1. [Q8N9W5-1]
    RefSeqiNP_001243643.1. NM_001256714.1.
    NP_001243644.1. NM_001256715.1.
    NP_001243645.1. NM_001256716.1.
    NP_849159.2. NM_178837.4.
    UniGeneiHs.351582.

    Genome annotation databases

    EnsembliENST00000391720; ENSP00000375600; ENSG00000167646. [Q8N9W5-6]
    ENST00000455045; ENSP00000394343; ENSG00000167646. [Q8N9W5-7]
    ENST00000524407; ENSP00000432046; ENSG00000167646. [Q8N9W5-1]
    ENST00000527223; ENSP00000436975; ENSG00000167646. [Q8N9W5-3]
    ENST00000528412; ENSP00000433826; ENSG00000167646. [Q8N9W5-5]
    ENST00000534214; ENSP00000433247; ENSG00000167646. [Q8N9W5-5]
    GeneIDi352909.
    KEGGihsa:352909.
    UCSCiuc002qjh.2. human. [Q8N9W5-1]
    uc002qjj.2. human. [Q8N9W5-6]
    uc002qjl.2. human. [Q8N9W5-3]

    Polymorphism databases

    DMDMi229462985.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK093458 mRNA. Translation: BAC04172.1 .
    AK093473 mRNA. Translation: BAC04177.1 . Sequence problems.
    AK097388 mRNA. Translation: BAC05029.1 .
    AC010327 Genomic DNA. No translation available.
    BC016843 mRNA. Translation: AAH16843.1 .
    BC063449 mRNA. Translation: AAH63449.1 .
    CCDSi CCDS12918.2. [Q8N9W5-6 ]
    CCDS58680.1. [Q8N9W5-3 ]
    CCDS59422.1. [Q8N9W5-1 ]
    RefSeqi NP_001243643.1. NM_001256714.1.
    NP_001243644.1. NM_001256715.1.
    NP_001243645.1. NM_001256716.1.
    NP_849159.2. NM_178837.4.
    UniGenei Hs.351582.

    3D structure databases

    ProteinModelPortali Q8N9W5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 131582. 1 interaction.
    STRINGi 9606.ENSP00000375600.

    PTM databases

    PhosphoSitei Q8N9W5.

    Polymorphism databases

    DMDMi 229462985.

    Proteomic databases

    PaxDbi Q8N9W5.
    PRIDEi Q8N9W5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000391720 ; ENSP00000375600 ; ENSG00000167646 . [Q8N9W5-6 ]
    ENST00000455045 ; ENSP00000394343 ; ENSG00000167646 . [Q8N9W5-7 ]
    ENST00000524407 ; ENSP00000432046 ; ENSG00000167646 . [Q8N9W5-1 ]
    ENST00000527223 ; ENSP00000436975 ; ENSG00000167646 . [Q8N9W5-3 ]
    ENST00000528412 ; ENSP00000433826 ; ENSG00000167646 . [Q8N9W5-5 ]
    ENST00000534214 ; ENSP00000433247 ; ENSG00000167646 . [Q8N9W5-5 ]
    GeneIDi 352909.
    KEGGi hsa:352909.
    UCSCi uc002qjh.2. human. [Q8N9W5-1 ]
    uc002qjj.2. human. [Q8N9W5-6 ]
    uc002qjl.2. human. [Q8N9W5-3 ]

    Organism-specific databases

    CTDi 352909.
    GeneCardsi GC19M055671.
    GeneReviewsi DNAAF3.
    HGNCi HGNC:30492. DNAAF3.
    HPAi HPA042118.
    MIMi 606763. phenotype.
    614566. gene.
    neXtProti NX_Q8N9W5.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA147358371.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG85125.
    HOGENOMi HOG000060295.
    HOVERGENi HBG107764.
    OMAi ALINHRT.
    OrthoDBi EOG76QFH6.
    PhylomeDBi Q8N9W5.

    Miscellaneous databases

    GenomeRNAii 352909.
    NextBioi 99561.
    PROi Q8N9W5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N9W5.
    Bgeei Q8N9W5.
    CleanExi HS_C19orf51.
    Genevestigatori Q8N9W5.

    Family and domain databases

    InterProi IPR028235. DNAAF3_C.
    IPR027974. DUF4470.
    [Graphical view ]
    Pfami PF14737. DUF4470. 1 hit.
    PF14740. DUF4471. 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 3), VARIANT ASN-365.
      Tissue: Testis.
    2. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [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] (ISOFORMS 1 AND 5), VARIANT ASN-365.
      Tissue: Brain and Pancreas.
    4. Cited for: VARIANT CILD2 PRO-61, VARIANT THR-278, FUNCTION.

    Entry informationi

    Entry nameiDAAF3_HUMAN
    AccessioniPrimary (citable) accession number: Q8N9W5
    Secondary accession number(s): A8MUY0
    , E3W9A1, E9PAX5, Q6P4F6, Q8N9W0, Q96AR2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 21, 2007
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 86 of the entry and version 3 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 19
      Human chromosome 19: 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
    6. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3