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)

Q9GZS0

- DNAI2_HUMAN

UniProt

Q9GZS0 - DNAI2_HUMAN

Protein

Dynein intermediate chain 2, axonemal

Gene

DNAI2

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 118 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Part of the dynein complex of respiratory cilia.

    GO - Molecular functioni

    1. microtubule motor activity Source: MGI

    GO - Biological processi

    1. cilium assembly Source: MGI
    2. metabolic process Source: GOC

    Keywords - Molecular functioni

    Motor protein

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Enzyme and pathway databases

    SignaLinkiQ9GZS0.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dynein intermediate chain 2, axonemal
    Alternative name(s):
    Axonemal dynein intermediate chain 2
    Gene namesi
    Name:DNAI2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:18744. DNAI2.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium axoneme By similarity

    GO - Cellular componenti

    1. axonemal dynein complex Source: MGI
    2. axoneme Source: MGI
    3. microtubule Source: UniProtKB-KW

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 9 (CILD9) [MIM:612444]: 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

    MIMi612444. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA38669.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 605605Dynein intermediate chain 2, axonemalPRO_0000114659Add
    BLAST

    Proteomic databases

    PaxDbiQ9GZS0.
    PRIDEiQ9GZS0.

    PTM databases

    PhosphoSiteiQ9GZS0.

    Expressioni

    Tissue specificityi

    Highly expressed in trachea and testis.

    Gene expression databases

    ArrayExpressiQ9GZS0.
    BgeeiQ9GZS0.
    CleanExiHS_DNAI2.
    GenevestigatoriQ9GZS0.

    Organism-specific databases

    HPAiCAB006245.

    Interactioni

    Subunit structurei

    Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with DNAAF2 By similarity.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000308312.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9GZS0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati160 – 21152WD 1Add
    BLAST
    Repeati214 – 25441WD 2Add
    BLAST
    Repeati261 – 30242WD 3Add
    BLAST
    Repeati362 – 40140WD 4Add
    BLAST
    Repeati405 – 44541WD 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

    eggNOGiNOG284872.
    HOGENOMiHOG000259651.
    HOVERGENiHBG013035.
    InParanoidiQ9GZS0.
    KOiK11143.
    OrthoDBiEOG70GMF5.
    PhylomeDBiQ9GZS0.
    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. 5 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9GZS0-1) [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

    MEIVYVYVKK RSEFGKQCNF SDRQAELNID IMPNPELAEQ FVERNPVDTG    50
    IQCSISMSEH EANSERFEME TRGVNHVEGG WPKDVNPLEL EQTIRFRKKV 100
    EKDENYVNAI MQLGSIMEHC IKQNNAIDIY EEYFNDEEAM EVMEEDPSAK 150
    TINVFRDPQE IKRAATHLSW HPDGNRKLAV AYSCLDFQRA PVGMSSDSYI 200
    WDLENPNKPE LALKPSSPLV TLEFNPKDSH VLLGGCYNGQ IACWDTRKGS 250
    LVAELSTIES SHRDPVYGTI WLQSKTGTEC FSASTDGQVM WWDIRKMSEP 300
    TEVVILDITK KEQLENALGA ISLEFESTLP TKFMVGTEQG IVISCNRKAK 350
    TSAEKIVCTF PGHHGPIYAL QRNPFYPKNF LTVGDWTARI WSEDSRESSI 400
    MWTKYHMAYL TDAAWSPVRP TVFFTTRMDG TLDIWDFMFE QCDPTLSLKV 450
    CDEALFCLRV QDNGCLIACG SQLGTTTLLE VSPGLSTLQR NEKNVASSMF 500
    ERETRREKIL EARHREMRLK EKGKAEGRDE EQTDEELAVD LEALVSKAEE 550
    EFFDIIFAEL KKKEADAIKL TPVPQQPSPE EDQVVEEGEE AAGEEGDEEV 600
    EEDLA 605
    Length:605
    Mass (Da):68,821
    Last modified:November 2, 2010 - v2
    Checksum:iACD0CB1D7FBB64EA
    GO
    Isoform 2 (identifier: Q9GZS0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         450-461: Missing.

    Show »
    Length:593
    Mass (Da):67,444
    Checksum:i61A7B96CC3DD1324
    GO

    Sequence cautioni

    The sequence CAB70790.1 differs from that shown. Reason: Intron retention.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti70 – 701E → K in CAC17464. 1 PublicationCurated
    Sequence conflicti593 – 5931G → E in CAC17464. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti495 – 4951V → I.
    Corresponds to variant rs28725418 [ dbSNP | Ensembl ].
    VAR_061140
    Natural varianti558 – 5581A → T.5 Publications
    Corresponds to variant rs1979370 [ dbSNP | Ensembl ].
    VAR_033880

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei450 – 46112Missing in isoform 2. 1 PublicationVSP_036541Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF250288 mRNA. Translation: AAG38489.1.
    AF253097
    , AF253087, AF253088, AF253089, AF260782, AF253090, AF253091, AF253092, AF253093, AF253094, AF253095, AF253096 Genomic DNA. Translation: AAG38000.1.
    AJ295276 mRNA. Translation: CAC17464.1.
    AC103809 Genomic DNA. No translation available.
    CH471099 Genomic DNA. Translation: EAW89146.1.
    BC039582 mRNA. Translation: AAH39582.1.
    AL137526 mRNA. Translation: CAB70790.1. Sequence problems.
    CCDSiCCDS11697.1. [Q9GZS0-1]
    CCDS58589.1. [Q9GZS0-2]
    PIRiT46370.
    RefSeqiNP_001166281.1. NM_001172810.1. [Q9GZS0-2]
    NP_075462.3. NM_023036.4. [Q9GZS0-1]
    XP_005257635.1. XM_005257578.1. [Q9GZS0-1]
    UniGeneiHs.147472.

    Genome annotation databases

    EnsembliENST00000311014; ENSP00000308312; ENSG00000171595. [Q9GZS0-1]
    ENST00000446837; ENSP00000400252; ENSG00000171595. [Q9GZS0-1]
    ENST00000582036; ENSP00000461950; ENSG00000171595. [Q9GZS0-2]
    GeneIDi64446.
    KEGGihsa:64446.
    UCSCiuc002jkf.3. human. [Q9GZS0-1]
    uc002jkg.3. human. [Q9GZS0-2]

    Polymorphism databases

    DMDMi311033373.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF250288 mRNA. Translation: AAG38489.1 .
    AF253097
    , AF253087 , AF253088 , AF253089 , AF260782 , AF253090 , AF253091 , AF253092 , AF253093 , AF253094 , AF253095 , AF253096 Genomic DNA. Translation: AAG38000.1 .
    AJ295276 mRNA. Translation: CAC17464.1 .
    AC103809 Genomic DNA. No translation available.
    CH471099 Genomic DNA. Translation: EAW89146.1 .
    BC039582 mRNA. Translation: AAH39582.1 .
    AL137526 mRNA. Translation: CAB70790.1 . Sequence problems.
    CCDSi CCDS11697.1. [Q9GZS0-1 ]
    CCDS58589.1. [Q9GZS0-2 ]
    PIRi T46370.
    RefSeqi NP_001166281.1. NM_001172810.1. [Q9GZS0-2 ]
    NP_075462.3. NM_023036.4. [Q9GZS0-1 ]
    XP_005257635.1. XM_005257578.1. [Q9GZS0-1 ]
    UniGenei Hs.147472.

    3D structure databases

    ProteinModelPortali Q9GZS0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000308312.

    PTM databases

    PhosphoSitei Q9GZS0.

    Polymorphism databases

    DMDMi 311033373.

    Proteomic databases

    PaxDbi Q9GZS0.
    PRIDEi Q9GZS0.

    Protocols and materials databases

    DNASUi 64446.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311014 ; ENSP00000308312 ; ENSG00000171595 . [Q9GZS0-1 ]
    ENST00000446837 ; ENSP00000400252 ; ENSG00000171595 . [Q9GZS0-1 ]
    ENST00000582036 ; ENSP00000461950 ; ENSG00000171595 . [Q9GZS0-2 ]
    GeneIDi 64446.
    KEGGi hsa:64446.
    UCSCi uc002jkf.3. human. [Q9GZS0-1 ]
    uc002jkg.3. human. [Q9GZS0-2 ]

    Organism-specific databases

    CTDi 64446.
    GeneCardsi GC17P072292.
    GeneReviewsi DNAI2.
    H-InvDB HIX0027346.
    HIX0202470.
    HGNCi HGNC:18744. DNAI2.
    HPAi CAB006245.
    MIMi 605483. gene.
    612444. phenotype.
    neXtProti NX_Q9GZS0.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA38669.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284872.
    HOGENOMi HOG000259651.
    HOVERGENi HBG013035.
    InParanoidi Q9GZS0.
    KOi K11143.
    OrthoDBi EOG70GMF5.
    PhylomeDBi Q9GZS0.
    TreeFami TF300553.

    Enzyme and pathway databases

    SignaLinki Q9GZS0.

    Miscellaneous databases

    GeneWikii DNAI2.
    GenomeRNAii 64446.
    NextBioi 66463.
    PROi Q9GZS0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9GZS0.
    Bgeei Q9GZS0.
    CleanExi HS_DNAI2.
    Genevestigatori Q9GZS0.

    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. 5 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia."
      Pennarun G., Chapelin C., Escudier E., Bridoux A.-M., Dastot F., Cacheux V., Goossens M., Amselem S., Duriez B.
      Hum. Genet. 107:642-649(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT THR-558.
      Tissue: Testis.
    2. "No deleterious mutations were found in three genes (HFH4, LC8, DNAI2) on human chromosome 17q in patients with primary ciliary dyskinesia."
      Bartoloni L., Mitchison H., Pazour G.J., Meeks M., Chung E., Dickert B.L., Spiden S., Gehrig C., Rossier C., DeLozier-Blanchet C.D., Blouin J.-L., Witman G.B., Gardiner R.M., Antonarakis S.E.
      Eur. J. Hum. Genet. 8:126-126(2000)
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-558.
      Tissue: Testis.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-558.
    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] (ISOFORM 2), VARIANT THR-558.
      Tissue: Brain.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 330-605, VARIANT THR-558.
      Tissue: Testis.
    7. Cited for: INVOLVEMENT IN CILD9.

    Entry informationi

    Entry nameiDNAI2_HUMAN
    AccessioniPrimary (citable) accession number: Q9GZS0
    Secondary accession number(s): C9J0S6
    , Q8IUW4, Q9H179, Q9NT53
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2002
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 118 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 17
      Human chromosome 17: 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