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Q9UI46

- DNAI1_HUMAN

UniProt

Q9UI46 - DNAI1_HUMAN

Protein

Dynein intermediate chain 1, axonemal

Gene

DNAI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Part of the dynein complex of respiratory cilia.

    GO - Molecular functioni

    1. motor activity Source: ProtInc
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell projection organization Source: UniProtKB-KW
    2. epithelial cilium movement Source: Ensembl
    3. metabolic process Source: GOC

    Keywords - Molecular functioni

    Motor protein

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Enzyme and pathway databases

    SignaLinkiQ9UI46.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dynein intermediate chain 1, axonemal
    Alternative name(s):
    Axonemal dynein intermediate chain 1
    Gene namesi
    Name:DNAI1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:2954. DNAI1.

    Subcellular locationi

    GO - Cellular componenti

    1. cilium Source: ProtInc
    2. cytoplasm Source: UniProtKB-KW
    3. cytoskeleton Source: ProtInc
    4. dynein complex Source: UniProtKB-KW
    5. microtubule Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Microtubule

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 1 (CILD1) [MIM:244400]: 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.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti515 – 5151G → S in KTGS. 1 Publication
    VAR_016775

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi244400. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA27407.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 699699Dynein intermediate chain 1, axonemalPRO_0000114658Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei131 – 1311Phosphoserine1 Publication
    Modified residuei134 – 1341Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ9UI46.
    PRIDEiQ9UI46.

    PTM databases

    PhosphoSiteiQ9UI46.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UI46.
    BgeeiQ9UI46.
    CleanExiHS_DNAI1.
    GenevestigatoriQ9UI46.

    Organism-specific databases

    HPAiHPA021649.
    HPA021843.

    Interactioni

    Subunit structurei

    Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with BICD2.1 Publication

    Protein-protein interaction databases

    BioGridi117957. 1 interaction.
    STRINGi9606.ENSP00000242317.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UI46.
    SMRiQ9UI46. Positions 333-613.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati381 – 42141WD 1Add
    BLAST
    Repeati430 – 47344WD 2Add
    BLAST
    Repeati538 – 57841WD 3Add
    BLAST
    Repeati580 – 62041WD 4Add
    BLAST
    Repeati627 – 66640WD 5Add
    BLAST

    Sequence similaritiesi

    Belongs to the dynein intermediate chain family.Curated
    Contains 5 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiNOG145991.
    HOGENOMiHOG000231705.
    HOVERGENiHBG005545.
    InParanoidiQ9UI46.
    KOiK10409.
    OMAiYEAICNQ.
    OrthoDBiEOG751NDV.
    PhylomeDBiQ9UI46.
    TreeFamiTF300553.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 1 hit.
    [Graphical view]
    SMARTiSM00320. WD40. 4 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UI46-1 [UniParc]FASTAAdd to Basket

    « Hide

    MIPASAKAPH KQPHKQSISI GRGTRKRDED SGTEVGEGTD EWAQSKATVR    50
    PPDQLELTDA ELKEEFTRIL TANNPHAPQN IVRYSFKEGT YKPIGFVNQL 100
    AVHYTQVGNL IPKDSDEGRR QHYRDELVAG SQESVKVISE TGNLEEDEEP 150
    KELETEPGSQ TDVPAAGAAE KVTEEELMTP KQPKERKLTN QFNFSERASQ 200
    TYNNPVRDRE CQTEPPPRTN FSATANQWEI YDAYVEELEK QEKTKEKEKA 250
    KTPVAKKSGK MAMRKLTSME SQTDDLIKLS QAAKIMERMV NQNTYDDIAQ 300
    DFKYYDDAAD EYRDQVGTLL PLWKFQNDKA KRLSVTALCW NPKYRDLFAV 350
    GYGSYDFMKQ SRGMLLLYSL KNPSFPEYMF SSNSGVMCLD IHVDHPYLVA 400
    VGHYDGNVAI YNLKKPHSQP SFCSSAKSGK HSDPVWQVKW QKDDMDQNLN 450
    FFSVSSDGRI VSWTLVKRKL VHIDVIKLKV EGSTTEVPEG LQLHPVGCGT 500
    AFDFHKEIDY MFLVGTEEGK IYKCSKSYSS QFLDTYDAHN MSVDTVSWNP 550
    YHTKVFMSCS SDWTVKIWDH TIKTPMFIYD LNSAVGDVAW APYSSTVFAA 600
    VTTDGKAHIF DLAINKYEAI CNQPVAAKKN RLTHVQFNLI HPIIIVGDDR 650
    GHIISLKLSP NLRKMPKEKK GQEVQKGPAV EIAKLDKLLN LVREVKIKT 699
    Length:699
    Mass (Da):79,283
    Last modified:May 1, 2000 - v1
    Checksum:iF7E2CF9D09A1F8BD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti202 – 2021Y → C in AAH30583. (PubMed:15489334)Curated
    Sequence conflicti495 – 4951P → Q in AAH30583. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81A → S.2 Publications
    Corresponds to variant rs11547035 [ dbSNP | Ensembl ].
    VAR_016774
    Natural varianti60 – 601A → V.
    Corresponds to variant rs16931549 [ dbSNP | Ensembl ].
    VAR_033876
    Natural varianti326 – 3261Q → H.
    Corresponds to variant rs16931555 [ dbSNP | Ensembl ].
    VAR_033877
    Natural varianti335 – 3351V → I.
    Corresponds to variant rs11793196 [ dbSNP | Ensembl ].
    VAR_033878
    Natural varianti487 – 4871V → G.
    Corresponds to variant rs11999454 [ dbSNP | Ensembl ].
    VAR_033879
    Natural varianti515 – 5151G → S in KTGS. 1 Publication
    VAR_016775

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF091619 mRNA. Translation: AAF18570.1.
    AF190496
    , AF190477, AF190478, AF190479, AF190480, AF190481, AF190482, AF190483, AF190484, AF190485, AF190486, AF190487, AF190488, AF190489, AF190490, AF190491, AF190492, AF190493, AF190494, AF190495 Genomic DNA. Translation: AAF19816.1.
    AL160270 Genomic DNA. Translation: CAI13155.1.
    BC030583 mRNA. Translation: AAH30583.1.
    CCDSiCCDS6557.1.
    RefSeqiNP_001268357.1. NM_001281428.1.
    NP_036276.1. NM_012144.3.
    UniGeneiHs.112667.

    Genome annotation databases

    EnsembliENST00000242317; ENSP00000242317; ENSG00000122735.
    GeneIDi27019.
    KEGGihsa:27019.
    UCSCiuc003zum.3. human.

    Polymorphism databases

    DMDMi12643888.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF091619 mRNA. Translation: AAF18570.1 .
    AF190496
    , AF190477 , AF190478 , AF190479 , AF190480 , AF190481 , AF190482 , AF190483 , AF190484 , AF190485 , AF190486 , AF190487 , AF190488 , AF190489 , AF190490 , AF190491 , AF190492 , AF190493 , AF190494 , AF190495 Genomic DNA. Translation: AAF19816.1 .
    AL160270 Genomic DNA. Translation: CAI13155.1 .
    BC030583 mRNA. Translation: AAH30583.1 .
    CCDSi CCDS6557.1.
    RefSeqi NP_001268357.1. NM_001281428.1.
    NP_036276.1. NM_012144.3.
    UniGenei Hs.112667.

    3D structure databases

    ProteinModelPortali Q9UI46.
    SMRi Q9UI46. Positions 333-613.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117957. 1 interaction.
    STRINGi 9606.ENSP00000242317.

    PTM databases

    PhosphoSitei Q9UI46.

    Polymorphism databases

    DMDMi 12643888.

    Proteomic databases

    PaxDbi Q9UI46.
    PRIDEi Q9UI46.

    Protocols and materials databases

    DNASUi 27019.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000242317 ; ENSP00000242317 ; ENSG00000122735 .
    GeneIDi 27019.
    KEGGi hsa:27019.
    UCSCi uc003zum.3. human.

    Organism-specific databases

    CTDi 27019.
    GeneCardsi GC09P034448.
    GeneReviewsi DNAI1.
    HGNCi HGNC:2954. DNAI1.
    HPAi HPA021649.
    HPA021843.
    MIMi 244400. phenotype.
    604366. gene.
    neXtProti NX_Q9UI46.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA27407.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG145991.
    HOGENOMi HOG000231705.
    HOVERGENi HBG005545.
    InParanoidi Q9UI46.
    KOi K10409.
    OMAi YEAICNQ.
    OrthoDBi EOG751NDV.
    PhylomeDBi Q9UI46.
    TreeFami TF300553.

    Enzyme and pathway databases

    SignaLinki Q9UI46.

    Miscellaneous databases

    ChiTaRSi DNAI1. human.
    GeneWikii DNAI1.
    GenomeRNAii 27019.
    NextBioi 49540.
    PROi Q9UI46.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UI46.
    Bgeei Q9UI46.
    CleanExi HS_DNAI1.
    Genevestigatori Q9UI46.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 1 hit.
    [Graphical view ]
    SMARTi SM00320. WD40. 4 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia."
      Pennarun G., Escudier E., Chapelin C., Bridoux A.-M., Cacheux V., Roger G., Clement A., Goossens M., Amselem S., Duriez B.
      Am. J. Hum. Genet. 65:1508-1519(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Testis and Trachea.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(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], VARIANT SER-8.
      Tissue: Testis.
    4. "Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin-containing protein/p97 during capacitation."
      Ficarro S., Chertihin O., Westbrook V.A., White F., Jayes F., Kalab P., Marto J.A., Shabanowitz J., Herr J.C., Hunt D.F., Visconti P.E.
      J. Biol. Chem. 278:11579-11589(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-131 AND SER-134, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Sperm.
    5. "Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance."
      Peeters K., Litvinenko I., Asselbergh B., Almeida-Souza L., Chamova T., Geuens T., Ydens E., Zimon M., Irobi J., De Vriendt E., De Winter V., Ooms T., Timmerman V., Tournev I., Jordanova A.
      Am. J. Hum. Genet. 92:955-964(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BICD2.
    6. "Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)."
      Guichard C., Harricane M.-C., Lafitte J.-J., Godard P., Zaegel M., Tack V., Lalau G., Bouvagnet P.
      Am. J. Hum. Genet. 68:1030-1035(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-8, VARIANT KTGS SER-515.

    Entry informationi

    Entry nameiDNAI1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UI46
    Secondary accession number(s): Q5T8G7, Q8NHQ7, Q9UEZ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 119 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 9
      Human chromosome 9: 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