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Q9Y592

- CEP83_HUMAN

UniProt

Q9Y592 - CEP83_HUMAN

Protein

Centrosomal protein of 83 kDa

Gene

CEP83

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 2 (16 May 2006)
      Previous versions | rss
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    Functioni

    Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. protein localization to centrosome Source: MGI
    3. vesicle docking Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Centrosomal protein of 83 kDa
    Short name:
    Cep83
    Alternative name(s):
    Coiled-coil domain-containing protein 41
    Renal carcinoma antigen NY-REN-58
    Gene namesi
    Name:CEP83
    Synonyms:CCDC41
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:17966. CEP83.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole 2 Publications
    Note: Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to centrioles at all stages of the cell cycle, including mitosis.

    GO - Cellular componenti

    1. centriole Source: UniProtKB
    2. ciliary transition fiber Source: MGI
    3. Golgi apparatus Source: MGI

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672158.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 693693Centrosomal protein of 83 kDaPRO_0000234495Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y592.
    PaxDbiQ9Y592.
    PRIDEiQ9Y592.

    PTM databases

    PhosphoSiteiQ9Y592.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y592.
    BgeeiQ9Y592.
    CleanExiHS_CCDC41.
    GenevestigatoriQ9Y592.

    Organism-specific databases

    HPAiHPA038161.

    Interactioni

    Subunit structurei

    Interacts with CEP164 and IFT20.1 Publication

    Protein-protein interaction databases

    BioGridi119321. 2 interactions.
    IntActiQ9Y592. 1 interaction.
    MINTiMINT-1790539.
    STRINGi9606.ENSP00000344655.

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili32 – 626595Sequence AnalysisAdd
    BLAST
    Coiled coili657 – 69034Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CEP83 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG125204.
    HOGENOMiHOG000111412.
    HOVERGENiHBG053993.
    InParanoidiQ9Y592.
    KOiK16754.
    OrthoDBiEOG75TMBC.
    PhylomeDBiQ9Y592.

    Family and domain databases

    InterProiIPR029631. Cep83.
    [Graphical view]
    PANTHERiPTHR23170:SF2. PTHR23170:SF2. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y592-1) [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

    MDTFPNNFPP GGDSGLTGSQ SEFQKMLIDE RLRCEHHKAN YQTLKAEHTR    50
    LQNEHVKLQN ELKHLFNEKQ TQQEKLQLLL EELRGELVEK TKDLEEMKLQ 100
    ILTPQKLELL RAQIQQELET PMRERFRNLD EEVEKYRAVY NKLRYEHTFL 150
    KSEFEHQKEE YARILDEGKI KYESEIARLE EDKEELRNQL LNVDLTKDSK 200
    RVEQLAREKV YLCQKLKGLE AEVAELKAEK ENSEAQVENA QRIQVRQLAE 250
    MQATVRSLEA EKQSANLRAE RLEKELQSSS EQNTFLINKL HKAEREINTL 300
    SSKVKELKHS NKLEITDIKL ETARAKSELE RERNKIQSEL DGLQSDNEIL 350
    KAAVEHHKVL LVEKDRELIR KVQAAKEEGY QKLVVLQDEK LELENRLADL 400
    EKMKVEHDVW RQSEKDQYEE KLRASQMAEE ITRKELQSVR LKLQQQIVTI 450
    ENAEKEKNEN SDLKQQISSL QIQVTSLAQS ENDLLNSNQM LKEMVERLKQ 500
    ECRNFRSQAE KAQLEAEKTL EEKQIQWLEE KHKLHERITD REEKYNQAKE 550
    KLQRAAIAQK KRKSLHENKL KRLQEKVEVL EAKKEELETE NQVLNRQNVP 600
    FEDYTRLQKR LKDIQRRHNE FRSLILVPNM PPTASINPVS FQSSAMVPSM 650
    ELPFPPHMQE EQHQRELSLL RKRLEELETT QRKQLEELGS SGE 693
    Length:693
    Mass (Da):82,059
    Last modified:May 16, 2006 - v2
    Checksum:i0310952944AE6970
    GO
    Isoform 2 (identifier: Q9Y592-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-25: Missing.
         562-593: RKSLHENKLKRLQEKVEVLEAKKEELETENQV → LEQDLELGCPSVTDTYRESVFPPPPLKRDLLK
         594-693: Missing.

    Show »
    Length:568
    Mass (Da):67,408
    Checksum:i870DDD0933F30FD7
    GO

    Sequence cautioni

    The sequence AAD42881.1 differs from that shown. Reason: Frameshift at positions 105, 590 and 601.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti259 – 2591E → G in AAD42881. (PubMed:10508479)Curated
    Sequence conflicti336 – 3361I → L in AAD42881. (PubMed:10508479)Curated
    Sequence conflicti536 – 5361E → D in AAD42881. (PubMed:10508479)Curated
    Sequence conflicti537 – 5371R → C in AAI25087. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti70 – 701Q → R.
    Corresponds to variant rs2271979 [ dbSNP | Ensembl ].
    VAR_058397

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2525Missing in isoform 2. 1 PublicationVSP_037760Add
    BLAST
    Alternative sequencei562 – 59332RKSLH…TENQV → LEQDLELGCPSVTDTYRESV FPPPPLKRDLLK in isoform 2. 1 PublicationVSP_037761Add
    BLAST
    Alternative sequencei594 – 693100Missing in isoform 2. 1 PublicationVSP_037762Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF155115 mRNA. Translation: AAD42881.1. Frameshift.
    AC073655 Genomic DNA. No translation available.
    BC053614 mRNA. No translation available.
    BC125086 mRNA. Translation: AAI25087.1.
    BC125087 mRNA. Translation: AAI25088.1.
    AK056316 mRNA. No translation available.
    RefSeqiNP_057206.2. NM_016122.2.
    UniGeneiHs.279209.

    Genome annotation databases

    EnsembliENST00000397807; ENSP00000380909; ENSG00000173588. [Q9Y592-2]
    ENST00000547232; ENSP00000447783; ENSG00000173588. [Q9Y592-2]
    GeneIDi51134.
    KEGGihsa:51134.

    Polymorphism databases

    DMDMi97045295.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF155115 mRNA. Translation: AAD42881.1 . Frameshift.
    AC073655 Genomic DNA. No translation available.
    BC053614 mRNA. No translation available.
    BC125086 mRNA. Translation: AAI25087.1 .
    BC125087 mRNA. Translation: AAI25088.1 .
    AK056316 mRNA. No translation available.
    RefSeqi NP_057206.2. NM_016122.2.
    UniGenei Hs.279209.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119321. 2 interactions.
    IntActi Q9Y592. 1 interaction.
    MINTi MINT-1790539.
    STRINGi 9606.ENSP00000344655.

    PTM databases

    PhosphoSitei Q9Y592.

    Polymorphism databases

    DMDMi 97045295.

    Proteomic databases

    MaxQBi Q9Y592.
    PaxDbi Q9Y592.
    PRIDEi Q9Y592.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000397807 ; ENSP00000380909 ; ENSG00000173588 . [Q9Y592-2 ]
    ENST00000547232 ; ENSP00000447783 ; ENSG00000173588 . [Q9Y592-2 ]
    GeneIDi 51134.
    KEGGi hsa:51134.

    Organism-specific databases

    CTDi 51134.
    GeneCardsi GC12M094702.
    HGNCi HGNC:17966. CEP83.
    HPAi HPA038161.
    neXtProti NX_Q9Y592.
    PharmGKBi PA142672158.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG125204.
    HOGENOMi HOG000111412.
    HOVERGENi HBG053993.
    InParanoidi Q9Y592.
    KOi K16754.
    OrthoDBi EOG75TMBC.
    PhylomeDBi Q9Y592.

    Miscellaneous databases

    ChiTaRSi CCDC41. human.
    GenomeRNAii 51134.
    NextBioi 53977.
    PROi Q9Y592.

    Gene expression databases

    ArrayExpressi Q9Y592.
    Bgeei Q9Y592.
    CleanExi HS_CCDC41.
    Genevestigatori Q9Y592.

    Family and domain databases

    InterProi IPR029631. Cep83.
    [Graphical view ]
    PANTHERi PTHR23170:SF2. PTHR23170:SF2. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IDENTIFICATION AS A RENAL CANCER ANTIGEN.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., 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., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-634 (ISOFORM 1).
      Tissue: Retinoblastoma.
    4. "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] OF 1-559 (ISOFORM 1).
    5. "Centriole distal appendages promote membrane docking, leading to cilia initiation."
      Tanos B.E., Yang H.J., Soni R., Wang W.J., Macaluso F.P., Asara J.M., Tsou M.F.
      Genes Dev. 27:163-168(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    6. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CEP164 AND IFT20.

    Entry informationi

    Entry nameiCEP83_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y592
    Secondary accession number(s): A4FVB1, Q08AP1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: May 16, 2006
    Last modified: October 1, 2014
    This is version 86 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 12
      Human chromosome 12: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3