Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NEP3

- DAAF1_HUMAN

UniProt

Q8NEP3 - DAAF1_HUMAN

Protein

Dynein assembly factor 1, axonemal

Gene

DNAAF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 5 (25 Nov 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli.3 Publications

    GO - Molecular functioni

    1. dynein binding Source: UniProtKB

    GO - Biological processi

    1. axonemal dynein complex assembly Source: UniProtKB
    2. cilium morphogenesis Source: UniProtKB
    3. cilium movement Source: BHF-UCL
    4. determination of digestive tract left/right asymmetry Source: BHF-UCL
    5. determination of liver left/right asymmetry Source: BHF-UCL
    6. determination of pancreatic left/right asymmetry Source: BHF-UCL
    7. epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
    8. heart looping Source: BHF-UCL
    9. inner dynein arm assembly Source: BHF-UCL
    10. left/right pattern formation Source: BHF-UCL
    11. lung development Source: BHF-UCL
    12. motile cilium assembly Source: BHF-UCL
    13. outer dynein arm assembly Source: BHF-UCL
    14. regulation of cilium beat frequency Source: BHF-UCL

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dynein assembly factor 1, axonemal
    Alternative name(s):
    Leucine-rich repeat-containing protein 50
    Gene namesi
    Name:DNAAF1
    Synonyms:LRRC50
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:30539. DNAAF1.

    Subcellular locationi

    Cell projectioncilium 1 Publication. Cytoplasm 1 Publication. Cytoplasmcytoskeletonspindle pole 1 Publication
    Note: In HEK293T cells, it is diffusely cytoplasmic and concentrates at the mitotic spindle poles, while in MDCK cells, it localizes in the cilium. In vivo, this protein is probably restricted to the cilium.

    GO - Cellular componenti

    1. axoneme Source: UniProtKB
    2. cytoplasm Source: BHF-UCL
    3. nucleus Source: HPA
    4. plasma membrane Source: HPA
    5. spindle pole Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193]: 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. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 11776Missing in CILD13.
    VAR_063097Add
    BLAST
    Natural varianti175 – 1751L → R in CILD13. 1 Publication
    VAR_063098

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi613193. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    842. Testicular seminomatous germ cell tumor.
    PharmGKBiPA142671510.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 725725Dynein assembly factor 1, axonemalPRO_0000232889Add
    BLAST

    Proteomic databases

    PaxDbiQ8NEP3.
    PRIDEiQ8NEP3.

    PTM databases

    PhosphoSiteiQ8NEP3.

    Expressioni

    Tissue specificityi

    Mainly expressed in trachea and testis.1 Publication

    Gene expression databases

    ArrayExpressiQ8NEP3.
    BgeeiQ8NEP3.
    CleanExiHS_LRRC50.
    GenevestigatoriQ8NEP3.

    Organism-specific databases

    HPAiHPA041166.

    Interactioni

    Protein-protein interaction databases

    BioGridi125839. 2 interactions.
    STRINGi9606.ENSP00000367815.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NEP3.
    SMRiQ8NEP3. Positions 85-298.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati107 – 12923LRR 1Add
    BLAST
    Repeati130 – 15122LRR 2Add
    BLAST
    Repeati152 – 17322LRR 3Add
    BLAST
    Repeati174 – 19522LRR 4Add
    BLAST
    Repeati196 – 21722LRR 5Add
    BLAST
    Repeati221 – 24222LRR 6Add
    BLAST
    Domaini256 – 29439LRRCTAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi391 – 513123Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the DNAAF1 family.Curated
    Contains 6 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRCT domain.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG4886.
    HOVERGENiHBG066969.
    InParanoidiQ8NEP3.
    OMAiCLFLQVN.
    OrthoDBiEOG7HQN7P.
    PhylomeDBiQ8NEP3.
    TreeFamiTF315818.

    Family and domain databases

    InterProiIPR027734. DNAAF1.
    IPR001611. Leu-rich_rpt.
    [Graphical view]
    PANTHERiPTHR10588:SF208. PTHR10588:SF208. 1 hit.
    PROSITEiPS51450. LRR. 6 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NEP3-1) [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

    MHPEPSEPAT GGAAELDCAQ EPGVEESAGD HGSAGRGGCK EEINDPKEIC    50
    VGSSDTSYHS QQKQSGDNGS GGHFAHPRED REDRGPRMTK SSLQKLCKQH 100
    KLYITPALND TLYLHFKGFD RIENLEEYTG LRCLWLQSNG IQKIENLEAQ 150
    TELRCLFLQM NLLRKIENLE PLQKLDALNL SNNYIKTIEN LSCLPVLNTL 200
    QMAHNHLETV EDIQHLQECL RLCVLDLSHN KLSDPEILSI LESMPDLRVL 250
    NLMGNPVIRQ IPNYRRTVTV RLKHLTYLDD RPVFPKDRAC AEAWARGGYA 300
    AEKEERQQWE SRERKKITDS IEALAMIKQR AEERKRQRES QERGEMTSSD 350
    DGENVPASAE GKEEPPGDRE TRQKMELFVK ESFEAKDELC PEKPSGEEPP 400
    VEAKREDGGP EPEGTLPAET LLLSSPVEVK GEDGDGEPEG TLPAEAPPPP 450
    PPVEVKGEDG DQEPEGTLPA ETLLLSPPVK VKGEDGDREP EGTLPAEAPP 500
    PPPLGAAREE PTPQAVATEG VFVTELDGTR TEDLETIRLE TKETFCIDDL 550
    PDLEDDDETG KSLEDQNMCF PKIEVISSLS DDSDPELDYT SLPVLENLPT 600
    DTLSNIFAVS KDTSKAARVP FTDIFKKEAK RDLEIRKQDT KSPRPLIQEL 650
    SDEDPSGQLL MPPTCQRDAA PLTSSGDRDS DFLAASSPVP TESAATPPET 700
    CVGVAQPSQA LPTWDLTAFP APKAS 725
    Length:725
    Mass (Da):80,026
    Last modified:November 25, 2008 - v5
    Checksum:iCFDBF86796FA61B0
    GO
    Isoform 2 (identifier: Q8NEP3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-252: Missing.
         343-343: R → RGMRSAEDNSPRVPLRL

    Note: No experimental confirmation available.

    Show »
    Length:489
    Mass (Da):53,531
    Checksum:i5661910591E86359
    GO
    Isoform 3 (identifier: Q8NEP3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         409-725: GPEPEGTLPA...LTAFPAPKAS → DPATVTACEG

    Note: No experimental confirmation available.

    Show »
    Length:418
    Mass (Da):47,267
    Checksum:i2BF7BA4C8CE55708
    GO

    Sequence cautioni

    The sequence BAB71645.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti307 – 3071Q → E in CAH10390. (PubMed:17974005)Curated
    Sequence conflicti366 – 3661P → L in CAH10394. (PubMed:17974005)Curated
    Sequence conflicti457 – 4571G → R in BAG58765. (PubMed:15616553)Curated
    Sequence conflicti485 – 4851D → G in CAH10394. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 11776Missing in CILD13.
    VAR_063097Add
    BLAST
    Natural varianti175 – 1751L → R in CILD13. 1 Publication
    VAR_063098
    Natural varianti387 – 3871D → E.
    Corresponds to variant rs36062234 [ dbSNP | Ensembl ].
    VAR_047662
    Natural varianti393 – 3931K → R.3 Publications
    Corresponds to variant rs17856705 [ dbSNP | Ensembl ].
    VAR_047663
    Natural varianti432 – 4321E → D.
    Corresponds to variant rs9972733 [ dbSNP | Ensembl ].
    VAR_047664
    Natural varianti502 – 5021P → L.3 Publications
    Corresponds to variant rs11644164 [ dbSNP | Ensembl ].
    VAR_047665
    Natural varianti545 – 5451F → C.1 Publication
    Corresponds to variant rs17856706 [ dbSNP | Ensembl ].
    VAR_047666
    Natural varianti633 – 6331L → S.2 Publications
    Corresponds to variant rs2288020 [ dbSNP | Ensembl ].
    VAR_047667
    Natural varianti659 – 6591L → P.2 Publications
    Corresponds to variant rs2288022 [ dbSNP | Ensembl ].
    VAR_047668
    Natural varianti659 – 6591L → V.
    Corresponds to variant rs2288021 [ dbSNP | Ensembl ].
    VAR_047669
    Natural varianti675 – 6751S → T.2 Publications
    Corresponds to variant rs2288023 [ dbSNP | Ensembl ].
    VAR_047670
    Natural varianti703 – 7031G → R.
    Corresponds to variant rs4150188 [ dbSNP | Ensembl ].
    VAR_047671
    Natural varianti712 – 7121P → A.
    Corresponds to variant rs4150187 [ dbSNP | Ensembl ].
    VAR_047672

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 252252Missing in isoform 2. 1 PublicationVSP_036354Add
    BLAST
    Alternative sequencei343 – 3431R → RGMRSAEDNSPRVPLRL in isoform 2. 1 PublicationVSP_036355
    Alternative sequencei409 – 725317GPEPE…APKAS → DPATVTACEG in isoform 3. 1 PublicationVSP_036356Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057238 mRNA. Translation: BAB71392.1.
    AK058059 mRNA. Translation: BAB71645.1. Different initiation.
    AK295990 mRNA. Translation: BAG58765.1.
    AC009123 Genomic DNA. No translation available.
    AC040169 Genomic DNA. No translation available.
    BC024009 mRNA. Translation: AAH24009.3.
    AL137334 mRNA. Translation: CAH10706.1.
    AL833328 mRNA. Translation: CAH10390.1.
    AL833336 mRNA. Translation: CAH10394.1.
    CCDSiCCDS10943.2. [Q8NEP3-1]
    RefSeqiNP_848547.4. NM_178452.4. [Q8NEP3-1]
    UniGeneiHs.310164.

    Genome annotation databases

    EnsembliENST00000378553; ENSP00000367815; ENSG00000154099. [Q8NEP3-1]
    ENST00000563093; ENSP00000457373; ENSG00000154099. [Q8NEP3-3]
    GeneIDi123872.
    KEGGihsa:123872.
    UCSCiuc002fhl.4. human. [Q8NEP3-1]
    uc010vnw.2. human. [Q8NEP3-2]

    Polymorphism databases

    DMDMi215274261.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057238 mRNA. Translation: BAB71392.1 .
    AK058059 mRNA. Translation: BAB71645.1 . Different initiation.
    AK295990 mRNA. Translation: BAG58765.1 .
    AC009123 Genomic DNA. No translation available.
    AC040169 Genomic DNA. No translation available.
    BC024009 mRNA. Translation: AAH24009.3 .
    AL137334 mRNA. Translation: CAH10706.1 .
    AL833328 mRNA. Translation: CAH10390.1 .
    AL833336 mRNA. Translation: CAH10394.1 .
    CCDSi CCDS10943.2. [Q8NEP3-1 ]
    RefSeqi NP_848547.4. NM_178452.4. [Q8NEP3-1 ]
    UniGenei Hs.310164.

    3D structure databases

    ProteinModelPortali Q8NEP3.
    SMRi Q8NEP3. Positions 85-298.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125839. 2 interactions.
    STRINGi 9606.ENSP00000367815.

    PTM databases

    PhosphoSitei Q8NEP3.

    Polymorphism databases

    DMDMi 215274261.

    Proteomic databases

    PaxDbi Q8NEP3.
    PRIDEi Q8NEP3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378553 ; ENSP00000367815 ; ENSG00000154099 . [Q8NEP3-1 ]
    ENST00000563093 ; ENSP00000457373 ; ENSG00000154099 . [Q8NEP3-3 ]
    GeneIDi 123872.
    KEGGi hsa:123872.
    UCSCi uc002fhl.4. human. [Q8NEP3-1 ]
    uc010vnw.2. human. [Q8NEP3-2 ]

    Organism-specific databases

    CTDi 123872.
    GeneCardsi GC16P084179.
    GeneReviewsi DNAAF1.
    H-InvDB HIX0013289.
    HGNCi HGNC:30539. DNAAF1.
    HPAi HPA041166.
    MIMi 613190. gene.
    613193. phenotype.
    neXtProti NX_Q8NEP3.
    Orphaneti 244. Primary ciliary dyskinesia.
    842. Testicular seminomatous germ cell tumor.
    PharmGKBi PA142671510.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4886.
    HOVERGENi HBG066969.
    InParanoidi Q8NEP3.
    OMAi CLFLQVN.
    OrthoDBi EOG7HQN7P.
    PhylomeDBi Q8NEP3.
    TreeFami TF315818.

    Miscellaneous databases

    GeneWikii LRRC50.
    GenomeRNAii 123872.
    NextBioi 81173.
    PROi Q8NEP3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NEP3.
    Bgeei Q8NEP3.
    CleanExi HS_LRRC50.
    Genevestigatori Q8NEP3.

    Family and domain databases

    InterProi IPR027734. DNAAF1.
    IPR001611. Leu-rich_rpt.
    [Graphical view ]
    PANTHERi PTHR10588:SF208. PTHR10588:SF208. 1 hit.
    PROSITEi PS51450. LRR. 6 hits.
    [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 2 AND 3), VARIANTS ARG-393; LEU-502; SER-633; PRO-659 AND THR-675.
      Tissue: Subthalamic nucleus and Testis.
    2. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(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] (ISOFORM 1), VARIANTS ARG-393; LEU-502; CYS-545; SER-633; PRO-659 AND THR-675.
      Tissue: Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-548 AND 567-725 (ISOFORM 1), VARIANTS ARG-393 AND LEU-502.
      Tissue: Testis.
    5. "LRRC50, a conserved ciliary protein implicated in polycystic kidney disease."
      van Rooijen E., Giles R.H., Voest E.E., van Rooijen C., Schulte-Merker S., van Eeden F.J.
      J. Am. Soc. Nephrol. 19:1128-1138(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    6. Cited for: FUNCTION, INVOLVEMENT IN CILD13.
    7. "Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia."
      Duquesnoy P., Escudier E., Vincensini L., Freshour J., Bridoux A.M., Coste A., Deschildre A., de Blic J., Legendre M., Montantin G., Tenreiro H., Vojtek A.M., Loussert C., Clement A., Escalier D., Bastin P., Mitchell D.R., Amselem S.
      Am. J. Hum. Genet. 85:890-896(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CILD13 42-GLU--LYS-117 DEL AND ARG-175.

    Entry informationi

    Entry nameiDAAF1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NEP3
    Secondary accession number(s): B4DJA3
    , Q69YI8, Q69YJ0, Q69YW5, Q96LP3, Q96MB6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 18, 2006
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 106 of the entry and version 5 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 16
      Human chromosome 16: 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