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Q5DU05

- CE164_MOUSE

UniProt

Q5DU05 - CE164_MOUSE

Protein

Centrosomal protein of 164 kDa

Gene

Cep164

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    Functioni

    Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1 By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: MGI

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. DNA repair Source: UniProtKB-KW
    3. mitotic nuclear division Source: UniProtKB-KW

    Keywords - Biological processi

    Cell cycle, Cell division, Cilium biogenesis/degradation, DNA damage, DNA repair, Mitosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Centrosomal protein of 164 kDaBy similarity
    Short name:
    Cep164Imported
    Gene namesi
    Name:Cep164Imported
    Synonyms:Kiaa1052Imported
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Unplaced

    Organism-specific databases

    MGIiMGI:2384878. Cep164.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole 1 Publication. Nucleus By similarity
    Note: Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation. Persisted at centrioles throughout mitosis By similarity. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1 By similarity.By similarity

    GO - Cellular componenti

    1. centriole Source: UniProtKB
    2. cilium Source: MGI
    3. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Nucleus

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14461446Centrosomal protein of 164 kDaPRO_0000370737Add
    BLAST

    Proteomic databases

    PaxDbiQ5DU05.
    PRIDEiQ5DU05.

    PTM databases

    PhosphoSiteiQ5DU05.

    Expressioni

    Gene expression databases

    GenevestigatoriQ5DU05.

    Interactioni

    Subunit structurei

    Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus) upon UV irradiation By similarity. Interacts with CEP83, CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4 By similarity.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ5DU05.
    SMRiQ5DU05. Positions 55-88.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini56 – 8934WWPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 195195Interaction with ATRIPBy similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili1143 – 119755Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi110 – 13021Lys-richSequence AnalysisAdd
    BLAST
    Compositional biasi525 – 896372Glu-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 WW domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG73730.
    HOGENOMiHOG000111523.
    InParanoidiQ3TYF9.
    PhylomeDBiQ5DU05.

    Family and domain databases

    InterProiIPR001202. WW_dom.
    [Graphical view]
    PfamiPF00397. WW. 1 hit.
    [Graphical view]
    SMARTiSM00456. WW. 1 hit.
    [Graphical view]
    SUPFAMiSSF51045. SSF51045. 1 hit.
    PROSITEiPS50020. WW_DOMAIN_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q5DU05-1) [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

    MARRPILLGD QLVLEEDSDE TYVPSEQEIL DFARVIGIDP IKEPELMWLA     50
    REGIEAPLPK GWKPCQNITG DLYYFNFDTG QSIWDHPCDE HYRKLVIQER 100
    ERWSAPGAIK KKDKKKKKEK KNKKDKETSK SPLVLGSPLA LVQAPLWGLA 150
    PLRGLGDAPP SALRGSQSVS LGSSADSGHL GEPTLPPQGL KAAACAKGLL 200
    ASVHEGKNAL SLLTLGEETN EEDEEESDNQ SVRSSSELLK NLHLDLGALG 250
    GNFEYEESPR TSQPDKKDVS LDSDADRPPT PGKLFSQGAD SSVASANGSK 300
    SQGRGASPWN PQKENENSDP KASSSQMAPE LDPGGDQPSR ASKKQQAEDP 350
    VQAGKEGECR RESAAKEPKE ASALENTSDV SEESEIHGHL KDARHSGSEA 400
    SGPKSFLGLD LGFRSRISEH LLDGDTLSPV LGGGHWEAQG LDQEEQDDSK 450
    SSIAEPQSKH TQGSEREHLQ SSLHSQATEE GPLQTLEGQP EWKEAEGPGK 500
    DSVASPAPLS LLQREQVLSP PASPERAEEK HSQAEELGLE QPEAEETEEK 550
    VAVCPSSPVS PEVQTAEPAA PQKLFSEAIL KGMELEEDQR LLLEFQKEKP 600
    QQLEERLWEE EEEEVCQLYQ QKEKSLSLLK AQLQKATAEE KEKEEETKIR 650
    EEESRRLVCL RAQVQSRTEA FENQIRTEQQ AALQRLREEA ETLQKAERAS 700
    LEQKSRRALE QLREQLEAEE RSAQAALRAE KEAEKEAALL QLREQLEGER 750
    KEAVAGLEKK HSAELEQLCS SLEAKHQEVI SSLQKKIEGA QQKEEAQLQE 800
    SLGWAEQRAH QKVHQVTEYE QELSSLLRDK RQEVEREHER KMDKMKEEHW 850
    QEMADARERY EAEERKQRAD LLGHLTGELE RLRRAHEREL ESMRQEQDQQ 900
    LEDLRRRHRD HERKLQDLEV ELSSRTKDVK ARLAQLNVQE ENIRKEKQLL 950
    LDAQRQAALE REEATATHQH LEEAKKEHTH LLETKQQLRR TIDDLRVRRV 1000
    ELESQVDLLQ AQSQRLQKHL SSLEAEVQRK QDVLKEMAAE MNASPHPEPG 1050
    LHIEDLRKSL DTNKNQEVSS SLSLSKEEID LSMESVRQFL SAEGVAVRNA 1100
    KEFLVRQTRS MRRRQTALKA AQQHWRHELA SAQEVDEDLP GTEVLGNMRK 1150
    NLNEETRHLD EMKSAMRKGH DLLKKKEEKL IQLESSLQEE VSDEDTLKGS 1200
    SIKKVTFDLS DMDDLSSESL ESSPVLHITP TPTSADPNKI HYLSSSLQRI 1250
    SSELNGVLNV LGSLNSQPPP QGLGSQPPPP LFTSSLRSSK NVLDPAYSSQ 1300
    AKLSSLSSIT PMSTQWAWDP GQGTKLTSSS SSQTVDDFLL EKWRKYFPSG 1350
    IPLLSGSPPP PENKLGYVSV SEQLHFLQRS HPRVPRTDGV SIQSLIDSNR 1400
    KWLEHFRNDP KVQLFSSAPK ATTTSNLSNL LQLGLDENNR LNVFHY 1446

    Note: Gene prediction based on similarity to human ortholog.Curated

    Length:1,446
    Mass (Da):162,601
    Last modified:May 5, 2009 - v2
    Checksum:i14EB2ED0166C0FDE
    GO
    Isoform 23 Publications (identifier: Q5DU05-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         186-188: Missing.
         514-626: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:1,330
    Mass (Da):149,310
    Checksum:i014A877BB139F3E9
    GO
    Isoform 31 Publication (identifier: Q5DU05-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         515-563: Missing.
         604-608: EERLW → EDEEEEGEEEEEEEEKEEEEE

    Note: No experimental confirmation available.Curated

    Show »
    Length:1,413
    Mass (Da):159,245
    Checksum:i5921B9CA75C4B5EC
    GO

    Sequence cautioni

    The sequence AAH66145.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAC34489.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1021 – 10211Missing in BAD90247. 1 PublicationCurated
    Sequence conflicti1025 – 10251A → V in AAH66145. (PubMed:15489334)Curated
    Sequence conflicti1192 – 11921S → P in AAH66145. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei186 – 1883Missing in isoform 2. 3 PublicationsVSP_053075
    Alternative sequencei514 – 626113Missing in isoform 2. 3 PublicationsVSP_053077Add
    BLAST
    Alternative sequencei515 – 56349Missing in isoform 3. 1 PublicationVSP_053078Add
    BLAST
    Alternative sequencei604 – 6085EERLW → EDEEEEGEEEEEEEEKEEEE E in isoform 3. 1 PublicationVSP_053079

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC126804 Genomic DNA. No translation available.
    AK032890 mRNA. Translation: BAC28073.1.
    AK050991 mRNA. Translation: BAC34489.1. Different initiation.
    AK158671 mRNA. Translation: BAE34604.1.
    AK220365 mRNA. Translation: BAD90247.1.
    BC066145 mRNA. Translation: AAH66145.1. Different initiation.
    UniGeneiMm.260103.

    Genome annotation databases

    UCSCiuc009pgb.2. mouse. [Q5DU05-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC126804 Genomic DNA. No translation available.
    AK032890 mRNA. Translation: BAC28073.1 .
    AK050991 mRNA. Translation: BAC34489.1 . Different initiation.
    AK158671 mRNA. Translation: BAE34604.1 .
    AK220365 mRNA. Translation: BAD90247.1 .
    BC066145 mRNA. Translation: AAH66145.1 . Different initiation.
    UniGenei Mm.260103.

    3D structure databases

    ProteinModelPortali Q5DU05.
    SMRi Q5DU05. Positions 55-88.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q5DU05.

    Proteomic databases

    PaxDbi Q5DU05.
    PRIDEi Q5DU05.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    UCSCi uc009pgb.2. mouse. [Q5DU05-2 ]

    Organism-specific databases

    MGIi MGI:2384878. Cep164.
    Rougei Search...

    Phylogenomic databases

    eggNOGi NOG73730.
    HOGENOMi HOG000111523.
    InParanoidi Q3TYF9.
    PhylomeDBi Q5DU05.

    Miscellaneous databases

    ChiTaRSi CEP164. mouse.
    PROi Q5DU05.
    SOURCEi Search...

    Gene expression databases

    Genevestigatori Q5DU05.

    Family and domain databases

    InterProi IPR001202. WW_dom.
    [Graphical view ]
    Pfami PF00397. WW. 1 hit.
    [Graphical view ]
    SMARTi SM00456. WW. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51045. SSF51045. 1 hit.
    PROSITEi PS50020. WW_DOMAIN_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-114 (ISOFORMS 1/2/3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 223-862 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1028-1446 (ISOFORM 2).
      Strain: C57BL/6JImported.
      Tissue: EmbryoImported, Visual cortexImported and Wolffian ductImported.
    3. "Prediction of the coding sequences of mouse homologues of KIAA gene. The complete nucleotide sequences of mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
      Okazaki N., Kikuno R.F., Ohara R., Inamoto S., Nagase T., Ohara O., Koga H.
      Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 158-1446 (ISOFORM 2).
      Tissue: Fetal brainImported.
    4. "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] OF 909-1446 (ISOFORM 2).
      Strain: C57BL/6JImported.
      Tissue: EmbryoImported.
    5. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling."
      Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H.
      , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F.
      Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiCE164_MOUSE
    AccessioniPrimary (citable) accession number: Q5DU05
    Secondary accession number(s): Q3TYF9
    , Q6NZG6, Q8BQD2, Q8BSI0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 5, 2009
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 68 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3