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Q6A078

- CE290_MOUSE

UniProt

Q6A078 - CE290_MOUSE

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Protein

Centrosomal protein of 290 kDa

Gene
Cep290, Kiaa0373, Nphp6
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Activates ATF4-mediated transcription By similarity. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.3 Publications

GO - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. cilium morphogenesis Source: UniProtKB
  3. establishment or maintenance of cell polarity Source: MGI
  4. eye photoreceptor cell development Source: HGNC
  5. hindbrain development Source: HGNC
  6. otic vesicle formation Source: HGNC
  7. positive regulation of intracellular protein transport Source: UniProtKB
  8. positive regulation of transcription, DNA-templated Source: HGNC
  9. pronephros development Source: HGNC
  10. protein transport Source: UniProtKB
  11. regulation of cAMP metabolic process Source: MGI
  12. regulation of establishment of protein localization Source: MGI
  13. retina development in camera-type eye Source: MGI
  14. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transcription, Transcription regulation, Transport

Enzyme and pathway databases

ReactomeiREACT_196635. Regulation of PLK1 Activity at G2/M Transition.

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 290 kDa
Short name:
Cep290
Alternative name(s):
Bardet-Biedl syndrome 14 protein homolog
Nephrocystin-6
Gene namesi
Name:Cep290
Synonyms:Kiaa0373, Nphp6
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Unplaced

Organism-specific databases

MGIiMGI:2384917. Cep290.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite By similarity. Nucleus By similarity. Cell projectioncilium. Cytoplasmcytoskeletoncilium basal body
Note: Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock By similarity. Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme.4 Publications

GO - Cellular componenti

  1. centriolar satellite Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. cytosol Source: HGNC
  4. gamma-tubulin complex Source: Ensembl
  5. nucleus Source: HGNC
  6. photoreceptor connecting cilium Source: UniProtKB
  7. protein complex Source: MGI
  8. TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Defects in Cep290 are a cause of early-onset retinal degeneration with autosomal recessive inheritance. The rd16 mutant carries a deletion of residues 1599-1897 in the Cep290 protein. Homozygous rd16 mice are characterized by the appearance of white retinal vessels at 1 month of age and large pigment patches at 2 months. Retinal degeneration is apparent as early as postnatal day 19 and progresses with age. The rd16 retina exhibits altered disitribution of Rpgr and phototransduction proteins within the photoreceptor cells.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi7 – 71W → C: Centrosomal localization retained. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 24722472Centrosomal protein of 290 kDaPRO_0000258013Add
BLAST

Post-translational modificationi

Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause it displacement from centriolar satellites By similarity.

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiQ6A078.
PRIDEiQ6A078.

PTM databases

PhosphoSiteiQ6A078.

Expressioni

Tissue specificityi

Expressed in multiple organs during early postnatal development, with highest levels in hindbrain.1 Publication

Developmental stagei

Similar levels from E7 to E17 in whole embryo and brain. In the cerebellum, expressed most strongly in dividing cells of the external granule layer.1 Publication

Gene expression databases

BgeeiQ6A078.
CleanExiMM_CEP290.
GenevestigatoriQ6A078.

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex). Interacts with ATF4 via its N-terminal region By similarity. Part of selected centrosomal and microtubule-associated protein complexes. Interacts with IQCB1 By similarity. Interacts with ZNF423 By similarity. Interacts with FAM161A. Interacts with CEP162 By similarity. Interacts with CEP131. Associates with microtubule; association to microtubule is reduced in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling By similarity. Interacts with RPGR.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Iqcb1Q8BP006EBI-1811999,EBI-4282243

Protein-protein interaction databases

BioGridi229729. 36 interactions.
DIPiDIP-46317N.
IntActiQ6A078. 28 interactions.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili59 – 747689 Reviewed predictionAdd
BLAST
Coiled coili1129 – 1392264 Reviewed predictionAdd
BLAST
Coiled coili1459 – 149234 Reviewed predictionAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000111526.
HOVERGENiHBG081077.
InParanoidiQ6A078.
KOiK16533.
PhylomeDBiQ6A078.

Family and domain databases

InterProiIPR026201. Cep290.
[Graphical view]
PANTHERiPTHR18879. PTHR18879. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 11 Publication (identifier: Q6A078-1) [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

MPPNIKWKEL IKVDPDDLPR QEELADKLLI SLSKVEVNEL KNEDQENMIH     50
LFRITQSLMK MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM 100
AQQSAGGRDT RFLRDEIRQL EKQLEQKDRE LEDMEKELDK EKKVNEQLAL 150
RNEEAENENS KLRRENEQLR QDIIDYQKQI DSQKESLLSR RGEDSDYRSQ 200
LSKKNYELVQ YLDEIQTLTE ANEKIEVQNQ EMRKNLEESV QEMEKMTDEY 250
NRMKALVHQS DAVMDQIKKE NEHYRLQVRE LTDLLKAKDE EDDPVMMAVN 300
AKVEEWKLIL SSKDDEIIEY QQMLQSLRGK LKNAQLDADK SNIMALKQGI 350
QERDSQIKML TEQVEQYTKE MEKNTFIIED LKNELQKDKG TSNFYQQTHY 400
MKIHSKVQIL EEKTKEAERI AELAEADARE KDKELVEALK RLKDYESGVY 450
GLEDAVIEIK NCKAQIKIRD GEMEVLTKEI NKLEMKINDI LDENEALRER 500
AGLEPKTMID LTEFRNSKRL KQQQYRAENQ VLLKEIESLE EERLDLKRKI 550
RQMAQERGKR NAASGLTIDD LNLSETFSHE NKIEGRKLNF MSLNNMNETQ 600
SKNEFLSREL AEKEKDLERS RTVIAKFQSK LKELVEENKQ LEEGMKEILQ 650
AIKDMPKDSD VKGGETSLII PSLERLVNAM ESKNAEGIFD ASLHLKAQVD 700
QLTGRNEELR QELRQSRKEA VNYSQQLVKA NLKIDHLEKE TDLLRQSAGS 750
NVVYKGIDLP DGIAPSSAYI INSQNEYLIH LLQELDNKEK KLKHLEDSLE 800
DYNRKFAVIR HQQSLLYKEY LSEKDIWKTD SEMIREEKRK LEDQAEQDAV 850
KVKEYNNLLS ALQMDSNEMK KMLSENSRKI TVLQVNEKSL IRQYTTLVEM 900
ERHLRKENGK HRNDVIAMEA EVTEKLGSLQ RFKEMAIFKI AALQKVIDNS 950
VSLSELELAN KQYNELTTKY RDILQKDNML VQRTSNLEHL ECENASLKEQ 1000
MEAISKELEI TKEKLHTIEQ AWEQETKLGN DSNMDKAKKS MTNSDIVSIS 1050
KKITVLEMKE LNERQRAEHC QKMYEHLRTS LKQMEERNFE LETKFTELTK 1100
INLDAQKVEQ MLRDELADSV TKAVSDADRQ RILELEKSEV ELKVEVSKLR 1150
EISDIAKRQV DFLNSQQQSR EKEVESLRTQ LLDFQAQSDE KALIAKLHQH 1200
VVSLQISEAT ALGKLESVTS KLQKMEAYNL RLEQKLDEKE QALYYARLEG 1250
RNRAKHLRQT IQSLRRQFSG ALPLAQQEKF SKTMIQLQND KLKIMQEMKN 1300
SQQEHRNMEN KTLELELKLK GLEELISTLK DARGAQKVIN WHVKIEELRL 1350
QELKLNRELV KGKEEIKYLN NIISEYEHTI NSLEEEIVQQ SKFHEERQMA 1400
WDQREVELER QLDIFDHQQN EILSAAQKFE DSTGSMPDPS LPLPNQLEIA 1450
LRKIKENIQV ILKTQATCKS LEEKLKEKES ALRLAEQNIL SRDKVINELR 1500
LRLPATADRE KLIAELERKE LEPKSHHTMK IAHQTIANMQ ARLNHKEEVL 1550
KKYQHLLEKA REEQREIVKK HEEDLHVLHH KLEQQADNSL NKFRQTAQDL 1600
LKQSPAPVPT NKHFIRLAEM EQTVAEQDDS LSSLLTKLKK VSKDLEKQKE 1650
ITELKVREFE NTKLRLQETH ASEVKKVKAE VEDLRHALAQ AHKDSQSLKS 1700
ELQAQKEANS RAPTTTMRNL VDRLKSQLAL KEKQQKALSR ALLELRSEMT 1750
AAAEERIIAV TSQKEANLNV QQVVERHTRE LKSQIEDLNE NLLKLKEALK 1800
TSKNKENSLA DDLNELNNEL QKKQKAYNKI LREKDGIDQE NDELRRQIKR 1850
LSSGLQSKTL IDNKQSLIDE LQKKVKKLES QLERKVDDVD IKPVKEKSSK 1900
EELIRWEEGK KWQTKVEGLR NRLKEKEGEA HGLAKQLNTL KELFAKADKE 1950
KLTLQKKLKT TGMTVDQVLG VRALESEKEL EELKKKNLDL ENDILYMRTQ 2000
QALPRDSVVE DLHLQNKYLQ EKLHTLEKKL SKEKYSQSLT SEIESDDHCQ 2050
KEQELQKENL KLSSENIELK FQLEQANKDL PRLKNQVKDL KEMCEFLKKG 2100
KLELERKLGQ VRGAGRSGKT IPELEKTIGL MKKVVEKVQR ENEQLKKASG 2150
ILTSEKMATI EEENRNLKAE LEKLKAHFGR QLSMQFESKN KGTEKIVAEN 2200
ERLRKELKKE IEASEKLRIA KNNLELVNDK MAAQLEETGK RLQFAESRAP 2250
QLEGADSKSW KSIVVSRVYE TKMKELESDI AKKNQSITDL KQLVREATER 2300
EQKAKKYTED LEQQIEILKN VPEGAETEQE LIRELQLLRL ANNQMDKERA 2350
ELIHQIEINK DQTRADSSIP DSDQLKEKIN DLETQLRKLE LEKQHSKEEV 2400
KKLKKELENF DPSFFEEIED LKYNYKEEVK KNILLEEKLK KLSEQFGFEL 2450
PSPLAASEHS EDGESPHSFP IY 2472

Note: No experimental confirmation available.

Length:2,472
Mass (Da):289,077
Last modified:October 31, 2006 - v2
Checksum:iD6ABC2C8A86340A0
GO
Isoform 21 Publication (identifier: Q6A078-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1664: Missing.
     1665-1665: R → M

Note: No experimental confirmation available.

Show »
Length:808
Mass (Da):93,782
Checksum:iB3AE0E431A7E365F
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 16641664Missing in isoform 2. 1 PublicationVSP_052188Add
BLAST
Alternative sequencei1665 – 16651R → M in isoform 2. 1 PublicationVSP_052189

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1425 – 14251A → P in BAD32218. 1 Publication
Sequence conflicti1470 – 14701S → A in BAD32218. 1 Publication
Sequence conflicti1533 – 15331H → Q in BAD32218. 1 Publication
Sequence conflicti1544 – 15441N → T in BAD32218. 1 Publication
Sequence conflicti1559 – 15591K → R in BAD32218. 1 Publication
Sequence conflicti1686 – 16861H → N in BAD32218. 1 Publication
Sequence conflicti2037 – 20371Q → E in BAD32218. 1 Publication
Sequence conflicti2134 – 21341V → L in BAD32218. 1 Publication
Sequence conflicti2158 – 21581A → G in BAD32218. 1 Publication
Sequence conflicti2345 – 23451M → L in BAD32218. 1 Publication
Sequence conflicti2389 – 23891L → S in BAD32218. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK029960 mRNA. Translation: BAC26700.1.
AC153501 Genomic DNA. No translation available.
AK172940 mRNA. Translation: BAD32218.1.
RefSeqiNP_666121.2. NM_146009.2.
XP_006513591.1. XM_006513528.1. [Q6A078-1]
UniGeneiMm.229114.

Genome annotation databases

GeneIDi216274.
KEGGimmu:216274.
UCSCiuc007gxw.2. mouse. [Q6A078-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK029960 mRNA. Translation: BAC26700.1 .
AC153501 Genomic DNA. No translation available.
AK172940 mRNA. Translation: BAD32218.1 .
RefSeqi NP_666121.2. NM_146009.2.
XP_006513591.1. XM_006513528.1. [Q6A078-1 ]
UniGenei Mm.229114.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 229729. 36 interactions.
DIPi DIP-46317N.
IntActi Q6A078. 28 interactions.

PTM databases

PhosphoSitei Q6A078.

Proteomic databases

PaxDbi Q6A078.
PRIDEi Q6A078.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 216274.
KEGGi mmu:216274.
UCSCi uc007gxw.2. mouse. [Q6A078-2 ]

Organism-specific databases

CTDi 80184.
MGIi MGI:2384917. Cep290.
Rougei Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000111526.
HOVERGENi HBG081077.
InParanoidi Q6A078.
KOi K16533.
PhylomeDBi Q6A078.

Enzyme and pathway databases

Reactomei REACT_196635. Regulation of PLK1 Activity at G2/M Transition.

Miscellaneous databases

ChiTaRSi CEP290. mouse.
NextBioi 375097.
PROi Q6A078.
SOURCEi Search...

Gene expression databases

Bgeei Q6A078.
CleanExi MM_CEP290.
Genevestigatori Q6A078.

Family and domain databases

InterProi IPR026201. Cep290.
[Graphical view ]
PANTHERi PTHR18879. PTHR18879. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORM 2).
    Strain: C57BL/6J.
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  3. "Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
    Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Seino S., Nishimura M., Kaisho T., Hoshino K., Kitamura H., Nagase T., Ohara O., Koga H.
    DNA Res. 11:205-218(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1103-2472 (ISOFORM 1).
    Tissue: Fetal brain.
  4. "In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse."
    Chang B., Khanna H., Hawes N., Jimeno D., He S., Lillo C., Parapuram S.K., Cheng H., Scott A., Hurd R.E., Sayer J.A., Otto E.A., Attanasio M., O'Toole J.F., Jin G., Shou C., Hildebrandt F., Williams D.S., Heckenlively J.R., Swaroop A.
    Hum. Mol. Genet. 15:1847-1857(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN EARLY-ONSET RETINAL DEGENERATION, FUNCTION, INTERACTION WITH RPGR, SUBUNIT, SUBCELLULAR LOCATION.
  5. Cited for: MUTAGENESIS OF TRP-7, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
  6. Cited for: SUBCELLULAR LOCATION.
  7. Cited for: FUNCTION.
  8. Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX.

Entry informationi

Entry nameiCE290_MOUSE
AccessioniPrimary (citable) accession number: Q6A078
Secondary accession number(s): Q8BIB8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: September 3, 2014
This is version 92 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

External Data

Dasty 3

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