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Q8IW40

- CC103_HUMAN

UniProt

Q8IW40 - CC103_HUMAN

Protein

Coiled-coil domain-containing protein 103

Gene

CCDC103

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Dynein-attachment factor required for cilia motility.1 Publication

    GO - Molecular functioni

    1. protein homodimerization activity Source: BHF-UCL

    GO - Biological processi

    1. axonemal dynein complex assembly Source: BHF-UCL
    2. cell projection organization Source: UniProtKB-KW
    3. cilium movement Source: BHF-UCL
    4. determination of digestive tract left/right asymmetry Source: BHF-UCL
    5. epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
    6. heart looping Source: BHF-UCL
    7. inner dynein arm assembly Source: BHF-UCL
    8. outer dynein arm assembly Source: BHF-UCL

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 103
    Gene namesi
    Name:CCDC103
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:32700. CCDC103.

    Subcellular locationi

    Cytoplasm By similarity. Cell projectionciliumflagellum By similarity

    GO - Cellular componenti

    1. axoneme Source: BHF-UCL
    2. cytoplasm Source: BHF-UCL

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Flagellum

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]: 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 varianti154 – 1541H → P in CILD17. 1 Publication
    VAR_068449

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi614679. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA145008596.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 242242Coiled-coil domain-containing protein 103PRO_0000263636Add
    BLAST

    Proteomic databases

    PaxDbiQ8IW40.
    PRIDEiQ8IW40.

    PTM databases

    PhosphoSiteiQ8IW40.

    Expressioni

    Gene expression databases

    BgeeiQ8IW40.
    CleanExiHS_CCDC103.
    GenevestigatoriQ8IW40.

    Organism-specific databases

    HPAiHPA043131.

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IW40.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili8 – 3225Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CCDC103/PR46b family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG43148.
    HOGENOMiHOG000231454.
    HOVERGENiHBG080287.
    InParanoidiQ8IW40.
    OMAiSSEQTHG.
    PhylomeDBiQ8IW40.
    TreeFamiTF324467.

    Family and domain databases

    InterProiIPR025986. RPAP3-like_C.
    [Graphical view]
    PfamiPF13877. RPAP3_C. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IW40-1) [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

    MERNDIINFK ALEKELQAAL TADEKYKREN AAKLRAVEQR VASYEEFRGI    50
    VLASHLKPLE RKDKMGGKRT VPWNCHTIQG RTFQDVATEI SPEKAPLQPE 100
    TSADFYRDWR RHLPSGPERY QALLQLGGPR LGCLFQTDVG FGLLGELLVA 150
    LADHVGPADR AAVLGILCSL ASTGRFTLNL SLLSRAERES CKGLFQKLQA 200
    MGNPRSVKEG LSWEEQGLEE QSGGLQEEER LLQELLELYQ VD 242
    Length:242
    Mass (Da):27,163
    Last modified:March 1, 2003 - v1
    Checksum:i82738F07296FEDC9
    GO
    Isoform 2 (identifier: Q8IW40-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         93-98: EKAPLQ → NSWKSS
         99-242: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:98
    Mass (Da):11,276
    Checksum:i2D3B7C6788474100
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti62 – 621K → E in BAF82449. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti154 – 1541H → P in CILD17. 1 Publication
    VAR_068449

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei93 – 986EKAPLQ → NSWKSS in isoform 2. 1 PublicationVSP_046037
    Alternative sequencei99 – 242144Missing in isoform 2. 1 PublicationVSP_046038Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK289760 mRNA. Translation: BAF82449.1.
    DA749894 mRNA. No translation available.
    AC015936 Genomic DNA. No translation available.
    BC041060 mRNA. Translation: AAH41060.1.
    CCDSiCCDS11490.1. [Q8IW40-1]
    CCDS58554.1. [Q8IW40-2]
    RefSeqiNP_001245324.1. NM_001258395.1. [Q8IW40-1]
    NP_001245325.1. NM_001258396.1. [Q8IW40-1]
    NP_001245326.1. NM_001258397.1. [Q8IW40-2]
    NP_998772.1. NM_213607.2. [Q8IW40-1]
    UniGeneiHs.743398.

    Genome annotation databases

    EnsembliENST00000410006; ENSP00000387252; ENSG00000167131. [Q8IW40-1]
    ENST00000410027; ENSP00000386640; ENSG00000167131. [Q8IW40-2]
    ENST00000417826; ENSP00000391692; ENSG00000167131. [Q8IW40-1]
    GeneIDi388389.
    KEGGihsa:388389.
    UCSCiuc002iho.4. human. [Q8IW40-1]

    Polymorphism databases

    DMDMi74728126.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK289760 mRNA. Translation: BAF82449.1 .
    DA749894 mRNA. No translation available.
    AC015936 Genomic DNA. No translation available.
    BC041060 mRNA. Translation: AAH41060.1 .
    CCDSi CCDS11490.1. [Q8IW40-1 ]
    CCDS58554.1. [Q8IW40-2 ]
    RefSeqi NP_001245324.1. NM_001258395.1. [Q8IW40-1 ]
    NP_001245325.1. NM_001258396.1. [Q8IW40-1 ]
    NP_001245326.1. NM_001258397.1. [Q8IW40-2 ]
    NP_998772.1. NM_213607.2. [Q8IW40-1 ]
    UniGenei Hs.743398.

    3D structure databases

    ProteinModelPortali Q8IW40.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q8IW40.

    Polymorphism databases

    DMDMi 74728126.

    Proteomic databases

    PaxDbi Q8IW40.
    PRIDEi Q8IW40.

    Protocols and materials databases

    DNASUi 388389.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000410006 ; ENSP00000387252 ; ENSG00000167131 . [Q8IW40-1 ]
    ENST00000410027 ; ENSP00000386640 ; ENSG00000167131 . [Q8IW40-2 ]
    ENST00000417826 ; ENSP00000391692 ; ENSG00000167131 . [Q8IW40-1 ]
    GeneIDi 388389.
    KEGGi hsa:388389.
    UCSCi uc002iho.4. human. [Q8IW40-1 ]

    Organism-specific databases

    CTDi 388389.
    GeneCardsi GC17P042978.
    GeneReviewsi CCDC103.
    HGNCi HGNC:32700. CCDC103.
    HPAi HPA043131.
    MIMi 614677. gene.
    614679. phenotype.
    neXtProti NX_Q8IW40.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA145008596.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG43148.
    HOGENOMi HOG000231454.
    HOVERGENi HBG080287.
    InParanoidi Q8IW40.
    OMAi SSEQTHG.
    PhylomeDBi Q8IW40.
    TreeFami TF324467.

    Miscellaneous databases

    GenomeRNAii 388389.
    NextBioi 102019.
    PROi Q8IW40.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8IW40.
    CleanExi HS_CCDC103.
    Genevestigatori Q8IW40.

    Family and domain databases

    InterProi IPR025986. RPAP3-like_C.
    [Graphical view ]
    Pfami PF13877. RPAP3_C. 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 2).
      Tissue: Brain and Teratocarcinoma.
    2. "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].
    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).
      Tissue: Prostate.
    4. Cited for: VARIANT CILD17 PRO-154, FUNCTION, SUBUNIT.

    Entry informationi

    Entry nameiCC103_HUMAN
    AccessioniPrimary (citable) accession number: Q8IW40
    Secondary accession number(s): A8K145, B8ZZU0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 12, 2006
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 79 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 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