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Q5DU05

- CE164_MOUSE

UniProt

Q5DU05 - CE164_MOUSE

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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

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 - Biological processi

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

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-KW
Complete GO annotation...

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, 1002-1028.
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.
InParanoidiQ5DU05.
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

        10         20         30         40         50
MARRPILLGD QLVLEEDSDE TYVPSEQEIL DFARVIGIDP IKEPELMWLA
60 70 80 90 100
REGIEAPLPK GWKPCQNITG DLYYFNFDTG QSIWDHPCDE HYRKLVIQER
110 120 130 140 150
ERWSAPGAIK KKDKKKKKEK KNKKDKETSK SPLVLGSPLA LVQAPLWGLA
160 170 180 190 200
PLRGLGDAPP SALRGSQSVS LGSSADSGHL GEPTLPPQGL KAAACAKGLL
210 220 230 240 250
ASVHEGKNAL SLLTLGEETN EEDEEESDNQ SVRSSSELLK NLHLDLGALG
260 270 280 290 300
GNFEYEESPR TSQPDKKDVS LDSDADRPPT PGKLFSQGAD SSVASANGSK
310 320 330 340 350
SQGRGASPWN PQKENENSDP KASSSQMAPE LDPGGDQPSR ASKKQQAEDP
360 370 380 390 400
VQAGKEGECR RESAAKEPKE ASALENTSDV SEESEIHGHL KDARHSGSEA
410 420 430 440 450
SGPKSFLGLD LGFRSRISEH LLDGDTLSPV LGGGHWEAQG LDQEEQDDSK
460 470 480 490 500
SSIAEPQSKH TQGSEREHLQ SSLHSQATEE GPLQTLEGQP EWKEAEGPGK
510 520 530 540 550
DSVASPAPLS LLQREQVLSP PASPERAEEK HSQAEELGLE QPEAEETEEK
560 570 580 590 600
VAVCPSSPVS PEVQTAEPAA PQKLFSEAIL KGMELEEDQR LLLEFQKEKP
610 620 630 640 650
QQLEERLWEE EEEEVCQLYQ QKEKSLSLLK AQLQKATAEE KEKEEETKIR
660 670 680 690 700
EEESRRLVCL RAQVQSRTEA FENQIRTEQQ AALQRLREEA ETLQKAERAS
710 720 730 740 750
LEQKSRRALE QLREQLEAEE RSAQAALRAE KEAEKEAALL QLREQLEGER
760 770 780 790 800
KEAVAGLEKK HSAELEQLCS SLEAKHQEVI SSLQKKIEGA QQKEEAQLQE
810 820 830 840 850
SLGWAEQRAH QKVHQVTEYE QELSSLLRDK RQEVEREHER KMDKMKEEHW
860 870 880 890 900
QEMADARERY EAEERKQRAD LLGHLTGELE RLRRAHEREL ESMRQEQDQQ
910 920 930 940 950
LEDLRRRHRD HERKLQDLEV ELSSRTKDVK ARLAQLNVQE ENIRKEKQLL
960 970 980 990 1000
LDAQRQAALE REEATATHQH LEEAKKEHTH LLETKQQLRR TIDDLRVRRV
1010 1020 1030 1040 1050
ELESQVDLLQ AQSQRLQKHL SSLEAEVQRK QDVLKEMAAE MNASPHPEPG
1060 1070 1080 1090 1100
LHIEDLRKSL DTNKNQEVSS SLSLSKEEID LSMESVRQFL SAEGVAVRNA
1110 1120 1130 1140 1150
KEFLVRQTRS MRRRQTALKA AQQHWRHELA SAQEVDEDLP GTEVLGNMRK
1160 1170 1180 1190 1200
NLNEETRHLD EMKSAMRKGH DLLKKKEEKL IQLESSLQEE VSDEDTLKGS
1210 1220 1230 1240 1250
SIKKVTFDLS DMDDLSSESL ESSPVLHITP TPTSADPNKI HYLSSSLQRI
1260 1270 1280 1290 1300
SSELNGVLNV LGSLNSQPPP QGLGSQPPPP LFTSSLRSSK NVLDPAYSSQ
1310 1320 1330 1340 1350
AKLSSLSSIT PMSTQWAWDP GQGTKLTSSS SSQTVDDFLL EKWRKYFPSG
1360 1370 1380 1390 1400
IPLLSGSPPP PENKLGYVSV SEQLHFLQRS HPRVPRTDGV SIQSLIDSNR
1410 1420 1430 1440
KWLEHFRNDP KVQLFSSAPK ATTTSNLSNL LQLGLDENNR LNVFHY

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

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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, 1002-1028.
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 Q5DU05.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 70 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