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Q9UFE4

- CCD39_HUMAN

UniProt

Q9UFE4 - CCD39_HUMAN

Protein

Coiled-coil domain-containing protein 39

Gene

CCDC39

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly.1 Publication

    GO - Biological processi

    1. axonemal dynein complex assembly Source: UniProtKB
    2. cilium-dependent cell motility Source: UniProtKB
    3. determination of digestive tract left/right asymmetry Source: BHF-UCL
    4. determination of liver left/right asymmetry Source: BHF-UCL
    5. determination of pancreatic left/right asymmetry Source: BHF-UCL
    6. epithelial cilium movement involved in determination of left/right asymmetry Source: UniProtKB
    7. heart looping Source: BHF-UCL
    8. lung development Source: BHF-UCL

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 39
    Gene namesi
    Name:CCDC39
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:25244. CCDC39.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium axoneme 2 Publications
    Note: CCDC40 is required for localization to axonemes.

    GO - Cellular componenti

    1. axoneme Source: UniProtKB
    2. cytoskeleton Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 14 (CILD14) [MIM:613807]: 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

    MIMi613807. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA142672194.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 941941Coiled-coil domain-containing protein 39PRO_0000234493Add
    BLAST

    Proteomic databases

    PaxDbiQ9UFE4.
    PRIDEiQ9UFE4.

    PTM databases

    PhosphoSiteiQ9UFE4.

    Expressioni

    Tissue specificityi

    Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis.1 Publication

    Gene expression databases

    ArrayExpressiQ9UFE4.
    BgeeiQ9UFE4.
    CleanExiHS_CCDC39.
    GenevestigatoriQ9UFE4.

    Organism-specific databases

    HPAiHPA035363.
    HPA035364.

    Interactioni

    Protein-protein interaction databases

    BioGridi130945. 2 interactions.
    STRINGi9606.ENSP00000405708.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UFE4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili16 – 122107Sequence AnalysisAdd
    BLAST
    Coiled coili164 – 273110Sequence AnalysisAdd
    BLAST
    Coiled coili306 – 605300Sequence AnalysisAdd
    BLAST
    Coiled coili665 – 825161Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi871 – 94070Ser-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CCDC39 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG117406.
    HOGENOMiHOG000060183.
    HOVERGENiHBG081041.
    InParanoidiQ9UFE4.
    OMAiILCNRRI.
    PhylomeDBiQ9UFE4.
    TreeFamiTF329312.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UFE4-1) [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

    MSSEFLAELH WEDGFAIPVA NEENKLLEDQ LSKLKDERAS LQDELREYEE    50
    RINSMTSHFK NVKQELSITQ SLCKARERET ESEEHFKAIA QRELGRVKDE 100
    IQRLENEMAS ILEKKSDKEN GIFKATQKLD GLKCQMNWDQ QALEAWLEES 150
    AHKDSDALTL QKYAQQDDNK IRALTLQLER LTLECNQKRK ILDNELTETI 200
    SAQLELDKAA QDFRKIHNER QELIKQWENT IEQMQKRDGD IDNCALELAR 250
    IKQETREKEN LVKEKIKFLE SEIGNNTEFE KRISVADRKL LKCRTAYQDH 300
    ETSRIQLKGE LDSLKATVNR TSSDLEALRK NISKIKKDIH EETARLQKTK 350
    NHNEIIQTKL KEITEKTMSV EEKATNLEDM LKEEEKDVKE VDVQLNLIKG 400
    VLFKKAQELQ TETMKEKAVL SEIEGTRSSL KHLNHQLQKL DFETLKQQEI 450
    MYSQDFHIQQ VERRMSRLKG EINSEEKQAL EAKIVELRKS LEEKKSTCGL 500
    LETQIKKLHN DLYFIKKAHS KNSDEKQSLM TKINELNLFI DRSEKELDKA 550
    KGFKQDLMIE DNLLKLEVKR TREMLHSKAE EVLSLEKRKQ QLYTAMEERT 600
    EEIKVHKTML ASQIRYVDQE RENISTEFRE RLSKIEKLKN RYEILTVVML 650
    PPEGEEEKTQ AYYVIKAAQE KEELQREGDC LDAKINKAEK EIYALENTLQ 700
    VLNSCNNNYK QSFKKVTPSS DEYELKIQLE EQKRAVDEKY RYKQRQIREL 750
    QEDIQSMENT LDVIEHLANN VKEKLSEKQA YSFQLSKETE EQKPKLERVT 800
    KQCAKLTKEI RLLKDTKDET MEEQDIKLRE MKQFHKVIDE MLVDIIEENT 850
    EIRIILQTYF QQSGLELPTA STKGSRQSSR SPSHTSLSAR SSRSTSTSTS 900
    QSSIKVLELK FPASSSLVGS PSRPSSASSS SSNVKSKKSS K 941
    Length:941
    Mass (Da):109,901
    Last modified:May 18, 2010 - v3
    Checksum:i1B7DAFB1B9A30D14
    GO
    Isoform 2 (identifier: Q9UFE4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MEYIFPNTGV...CCSSLSAQVM
         667-671: AAQEK → VMSMS
         672-941: 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:755
    Mass (Da):88,230
    Checksum:iB971EE2F7E0F958B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti452 – 4521Y → H in BAG65133. (PubMed:14702039)Curated
    Sequence conflicti811 – 8111R → H in BAG65133. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MEYIFPNTGVLWSWLINILC NRRIVWFTSSQLPRGPPASS GGHSFHTLRERSESRLFVES YAAAWQPPGTSGGASCCSSL SAQVM in isoform 2. 1 PublicationVSP_037014
    Alternative sequencei667 – 6715AAQEK → VMSMS in isoform 2. 1 PublicationVSP_037015
    Alternative sequencei672 – 941270Missing in isoform 2. 1 PublicationVSP_037016Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK304270 mRNA. Translation: BAG65133.1.
    AL122120 mRNA. Translation: CAB59277.1.
    AC068298 Genomic DNA. No translation available.
    CCDSiCCDS46964.1. [Q9UFE4-1]
    PIRiT34567.
    RefSeqiNP_852091.1. NM_181426.1. [Q9UFE4-1]
    UniGeneiHs.712820.

    Genome annotation databases

    EnsembliENST00000442201; ENSP00000405708; ENSG00000145075. [Q9UFE4-1]
    GeneIDi339829.
    KEGGihsa:339829.
    UCSCiuc010hxe.3. human. [Q9UFE4-1]

    Polymorphism databases

    DMDMi296439421.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK304270 mRNA. Translation: BAG65133.1 .
    AL122120 mRNA. Translation: CAB59277.1 .
    AC068298 Genomic DNA. No translation available.
    CCDSi CCDS46964.1. [Q9UFE4-1 ]
    PIRi T34567.
    RefSeqi NP_852091.1. NM_181426.1. [Q9UFE4-1 ]
    UniGenei Hs.712820.

    3D structure databases

    ProteinModelPortali Q9UFE4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130945. 2 interactions.
    STRINGi 9606.ENSP00000405708.

    PTM databases

    PhosphoSitei Q9UFE4.

    Polymorphism databases

    DMDMi 296439421.

    Proteomic databases

    PaxDbi Q9UFE4.
    PRIDEi Q9UFE4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000442201 ; ENSP00000405708 ; ENSG00000145075 . [Q9UFE4-1 ]
    GeneIDi 339829.
    KEGGi hsa:339829.
    UCSCi uc010hxe.3. human. [Q9UFE4-1 ]

    Organism-specific databases

    CTDi 339829.
    GeneCardsi GC03M180320.
    GeneReviewsi CCDC39.
    H-InvDB HIX0003887.
    HGNCi HGNC:25244. CCDC39.
    HPAi HPA035363.
    HPA035364.
    MIMi 613798. gene.
    613807. phenotype.
    neXtProti NX_Q9UFE4.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA142672194.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG117406.
    HOGENOMi HOG000060183.
    HOVERGENi HBG081041.
    InParanoidi Q9UFE4.
    OMAi ILCNRRI.
    PhylomeDBi Q9UFE4.
    TreeFami TF329312.

    Miscellaneous databases

    GenomeRNAii 339829.
    NextBioi 97565.
    PROi Q9UFE4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UFE4.
    Bgeei Q9UFE4.
    CleanExi HS_CCDC39.
    Genevestigatori Q9UFE4.

    Family and domain databases

    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] (ISOFORM 1).
      Tissue: Trachea.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    3. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN CILD14, TISSUE SPECIFICITY.
    5. Cited for: SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiCCD39_HUMAN
    AccessioniPrimary (citable) accession number: Q9UFE4
    Secondary accession number(s): B4E2H1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 87 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 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3