Q6A078 (CE290_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Centrosomal protein of 290 kDa
Short name=Cep290

Alternative name(s):
Bardet-Biedl syndrome 14 protein homolog
Nephrocystin-6

Gene names

Name:	Cep290
Synonyms:	Kiaa0373, Nphp6

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	2472 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.4 Ref.7 Ref.8
Subunit structure	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 By similarity. Interacts with RPGR. Ref.4 Ref.8
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Nucleus By similarity. Cell projection › cilium. Cytoplasm › cytoskeleton › cilium basal body. Note: 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. Ref.4 Ref.5 Ref.6 Ref.8
Tissue specificity	Expressed in multiple organs during early postnatal development, with highest levels in hindbrain. Ref.5
Developmental stage	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. Ref.5
Involvement in disease	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.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation Protein transport Transcription Transcription regulation Transport
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium assembly Inferred from mutant phenotype Ref.7. Source: UniProtKB establishment or maintenance of cell polarity Inferred from mutant phenotype PubMed 22832925. Source: MGI eye photoreceptor cell development Inferred from sequence or structural similarity. Source: HGNC hindbrain development Inferred from sequence or structural similarity. Source: HGNC otic vesicle formation Inferred from sequence or structural similarity. Source: HGNC positive regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: HGNC pronephros development Inferred from sequence or structural similarity. Source: HGNC protein transport Inferred from mutant phenotype Ref.4. Source: UniProtKB regulation of cAMP metabolic process Inferred from mutant phenotype PubMed 22832925. Source: MGI retina development in camera-type eye Inferred from mutant phenotype PubMed 21052544. Source: MGI transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	TCTN-B9D complex Inferred from direct assay Ref.8. Source: UniProtKB cell surface Inferred from electronic annotation. Source: Compara centrosome Inferred from direct assay Ref.4. Source: UniProtKB cytosol Inferred from sequence or structural similarity. Source: HGNC gamma-tubulin complex Inferred from electronic annotation. Source: Compara microtubule basal body Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from sequence or structural similarity. Source: HGNC photoreceptor connecting cilium Inferred from direct assay Ref.4Ref.6. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Iqcb1	Q8BP00	6	EBI-1811999,EBI-4282243

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 Ref.3 (identifier: Q6A078-1)

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.

Note: No experimental confirmation available.

Isoform 2 Ref.1 (identifier: Q6A078-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2472	2472	Centrosomal protein of 290 kDa		PRO_0000258013
Regions
	Coiled coil	59 – 747	689	Potential
	Coiled coil	1129 – 1392	264	Potential
	Coiled coil	1459 – 1492	34	Potential
Natural variations
	Alternative sequence	1 – 1664	1664	Missing in isoform 2. Ref.1		VSP_052188
	Alternative sequence	1665	1	R → M in isoform 2. Ref.1		VSP_052189
Experimental info
	Mutagenesis	7	1	W → C: Centrosomal localization retained. Ref.5
	Sequence conflict	1425	1	A → P in BAD32218. Ref.3
	Sequence conflict	1470	1	S → A in BAD32218. Ref.3
	Sequence conflict	1533	1	H → Q in BAD32218. Ref.3
	Sequence conflict	1544	1	N → T in BAD32218. Ref.3
	Sequence conflict	1559	1	K → R in BAD32218. Ref.3
	Sequence conflict	1686	1	H → N in BAD32218. Ref.3
	Sequence conflict	2037	1	Q → E in BAD32218. Ref.3
	Sequence conflict	2134	1	V → L in BAD32218. Ref.3
	Sequence conflict	2158	1	A → G in BAD32218. Ref.3
	Sequence conflict	2345	1	M → L in BAD32218. Ref.3
	Sequence conflict	2389	1	L → S in BAD32218. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 31, 2006. Version 2. Checksum: D6ABC2C8A86340A0	FASTA	2,472	289,077
	10 20 30 40 50 60 MPPNIKWKEL IKVDPDDLPR QEELADKLLI SLSKVEVNEL KNEDQENMIH LFRITQSLMK 70 80 90 100 110 120 MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRDEIRQL 130 140 150 160 170 180 EKQLEQKDRE LEDMEKELDK EKKVNEQLAL RNEEAENENS KLRRENEQLR QDIIDYQKQI 190 200 210 220 230 240 DSQKESLLSR RGEDSDYRSQ LSKKNYELVQ YLDEIQTLTE ANEKIEVQNQ EMRKNLEESV 250 260 270 280 290 300 QEMEKMTDEY NRMKALVHQS DAVMDQIKKE NEHYRLQVRE LTDLLKAKDE EDDPVMMAVN 310 320 330 340 350 360 AKVEEWKLIL SSKDDEIIEY QQMLQSLRGK LKNAQLDADK SNIMALKQGI QERDSQIKML 370 380 390 400 410 420 TEQVEQYTKE MEKNTFIIED LKNELQKDKG TSNFYQQTHY MKIHSKVQIL EEKTKEAERI 430 440 450 460 470 480 AELAEADARE KDKELVEALK RLKDYESGVY GLEDAVIEIK NCKAQIKIRD GEMEVLTKEI 490 500 510 520 530 540 NKLEMKINDI LDENEALRER AGLEPKTMID LTEFRNSKRL KQQQYRAENQ VLLKEIESLE 550 560 570 580 590 600 EERLDLKRKI RQMAQERGKR NAASGLTIDD LNLSETFSHE NKIEGRKLNF MSLNNMNETQ 610 620 630 640 650 660 SKNEFLSREL AEKEKDLERS RTVIAKFQSK LKELVEENKQ LEEGMKEILQ AIKDMPKDSD 670 680 690 700 710 720 VKGGETSLII PSLERLVNAM ESKNAEGIFD ASLHLKAQVD QLTGRNEELR QELRQSRKEA 730 740 750 760 770 780 VNYSQQLVKA NLKIDHLEKE TDLLRQSAGS NVVYKGIDLP DGIAPSSAYI INSQNEYLIH 790 800 810 820 830 840 LLQELDNKEK KLKHLEDSLE DYNRKFAVIR HQQSLLYKEY LSEKDIWKTD SEMIREEKRK 850 860 870 880 890 900 LEDQAEQDAV KVKEYNNLLS ALQMDSNEMK KMLSENSRKI TVLQVNEKSL IRQYTTLVEM 910 920 930 940 950 960 ERHLRKENGK HRNDVIAMEA EVTEKLGSLQ RFKEMAIFKI AALQKVIDNS VSLSELELAN 970 980 990 1000 1010 1020 KQYNELTTKY RDILQKDNML VQRTSNLEHL ECENASLKEQ MEAISKELEI TKEKLHTIEQ 1030 1040 1050 1060 1070 1080 AWEQETKLGN DSNMDKAKKS MTNSDIVSIS KKITVLEMKE LNERQRAEHC QKMYEHLRTS 1090 1100 1110 1120 1130 1140 LKQMEERNFE LETKFTELTK INLDAQKVEQ MLRDELADSV TKAVSDADRQ RILELEKSEV 1150 1160 1170 1180 1190 1200 ELKVEVSKLR EISDIAKRQV DFLNSQQQSR EKEVESLRTQ LLDFQAQSDE KALIAKLHQH 1210 1220 1230 1240 1250 1260 VVSLQISEAT ALGKLESVTS KLQKMEAYNL RLEQKLDEKE QALYYARLEG RNRAKHLRQT 1270 1280 1290 1300 1310 1320 IQSLRRQFSG ALPLAQQEKF SKTMIQLQND KLKIMQEMKN SQQEHRNMEN KTLELELKLK 1330 1340 1350 1360 1370 1380 GLEELISTLK DARGAQKVIN WHVKIEELRL QELKLNRELV KGKEEIKYLN NIISEYEHTI 1390 1400 1410 1420 1430 1440 NSLEEEIVQQ SKFHEERQMA WDQREVELER QLDIFDHQQN EILSAAQKFE DSTGSMPDPS 1450 1460 1470 1480 1490 1500 LPLPNQLEIA LRKIKENIQV ILKTQATCKS LEEKLKEKES ALRLAEQNIL SRDKVINELR 1510 1520 1530 1540 1550 1560 LRLPATADRE KLIAELERKE LEPKSHHTMK IAHQTIANMQ ARLNHKEEVL KKYQHLLEKA 1570 1580 1590 1600 1610 1620 REEQREIVKK HEEDLHVLHH KLEQQADNSL NKFRQTAQDL LKQSPAPVPT NKHFIRLAEM 1630 1640 1650 1660 1670 1680 EQTVAEQDDS LSSLLTKLKK VSKDLEKQKE ITELKVREFE NTKLRLQETH ASEVKKVKAE 1690 1700 1710 1720 1730 1740 VEDLRHALAQ AHKDSQSLKS ELQAQKEANS RAPTTTMRNL VDRLKSQLAL KEKQQKALSR 1750 1760 1770 1780 1790 1800 ALLELRSEMT AAAEERIIAV TSQKEANLNV QQVVERHTRE LKSQIEDLNE NLLKLKEALK 1810 1820 1830 1840 1850 1860 TSKNKENSLA DDLNELNNEL QKKQKAYNKI LREKDGIDQE NDELRRQIKR LSSGLQSKTL 1870 1880 1890 1900 1910 1920 IDNKQSLIDE LQKKVKKLES QLERKVDDVD IKPVKEKSSK EELIRWEEGK KWQTKVEGLR 1930 1940 1950 1960 1970 1980 NRLKEKEGEA HGLAKQLNTL KELFAKADKE KLTLQKKLKT TGMTVDQVLG VRALESEKEL 1990 2000 2010 2020 2030 2040 EELKKKNLDL ENDILYMRTQ QALPRDSVVE DLHLQNKYLQ EKLHTLEKKL SKEKYSQSLT 2050 2060 2070 2080 2090 2100 SEIESDDHCQ KEQELQKENL KLSSENIELK FQLEQANKDL PRLKNQVKDL KEMCEFLKKG 2110 2120 2130 2140 2150 2160 KLELERKLGQ VRGAGRSGKT IPELEKTIGL MKKVVEKVQR ENEQLKKASG ILTSEKMATI 2170 2180 2190 2200 2210 2220 EEENRNLKAE LEKLKAHFGR QLSMQFESKN KGTEKIVAEN ERLRKELKKE IEASEKLRIA 2230 2240 2250 2260 2270 2280 KNNLELVNDK MAAQLEETGK RLQFAESRAP QLEGADSKSW KSIVVSRVYE TKMKELESDI 2290 2300 2310 2320 2330 2340 AKKNQSITDL KQLVREATER EQKAKKYTED LEQQIEILKN VPEGAETEQE LIRELQLLRL 2350 2360 2370 2380 2390 2400 ANNQMDKERA ELIHQIEINK DQTRADSSIP DSDQLKEKIN DLETQLRKLE LEKQHSKEEV 2410 2420 2430 2440 2450 2460 KKLKKELENF DPSFFEEIED LKYNYKEEVK KNILLEEKLK KLSEQFGFEL PSPLAASEHS 2470 EDGESPHSFP IY
	Isoform 2 [UniParc]. Checksum: B3AE0E431A7E365F	FASTA	808	93,782
	10 20 30 40 50 60 MLQETHASEV KKVKAEVEDL RHALAQAHKD SQSLKSELQA QKEANSRAPT TTMRNLVDRL 70 80 90 100 110 120 KSQLALKEKQ QKALSRALLE LRSEMTAAAE ERIIAVTSQK EANLNVQQVV ERHTRELKSQ 130 140 150 160 170 180 IEDLNENLLK LKEALKTSKN KENSLADDLN ELNNELQKKQ KAYNKILREK DGIDQENDEL 190 200 210 220 230 240 RRQIKRLSSG LQSKTLIDNK QSLIDELQKK VKKLESQLER KVDDVDIKPV KEKSSKEELI 250 260 270 280 290 300 RWEEGKKWQT KVEGLRNRLK EKEGEAHGLA KQLNTLKELF AKADKEKLTL QKKLKTTGMT 310 320 330 340 350 360 VDQVLGVRAL ESEKELEELK KKNLDLENDI LYMRTQQALP RDSVVEDLHL QNKYLQEKLH 370 380 390 400 410 420 TLEKKLSKEK YSQSLTSEIE SDDHCQKEQE LQKENLKLSS ENIELKFQLE QANKDLPRLK 430 440 450 460 470 480 NQVKDLKEMC EFLKKGKLEL ERKLGQVRGA GRSGKTIPEL EKTIGLMKKV VEKVQRENEQ 490 500 510 520 530 540 LKKASGILTS EKMATIEEEN RNLKAELEKL KAHFGRQLSM QFESKNKGTE KIVAENERLR 550 560 570 580 590 600 KELKKEIEAS EKLRIAKNNL ELVNDKMAAQ LEETGKRLQF AESRAPQLEG ADSKSWKSIV 610 620 630 640 650 660 VSRVYETKMK ELESDIAKKN QSITDLKQLV REATEREQKA KKYTEDLEQQ IEILKNVPEG 670 680 690 700 710 720 AETEQELIRE LQLLRLANNQ MDKERAELIH QIEINKDQTR ADSSIPDSDQ LKEKINDLET 730 740 750 760 770 780 QLRKLELEKQ HSKEEVKKLK KELENFDPSF FEEIEDLKYN YKEEVKKNIL LEEKLKKLSE 790 800 QFGFELPSPL AASEHSEDGE SPHSFPIY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] 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]	"Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome." International Joubert syndrome related disorders (JSRD) study group Valente E.M., Silhavy J.L., Brancati F., Barrano G., Krishnaswami S.R., Castori M., Lancaster M.A., Boltshauser E., Boccone L., Al-Gazali L., Fazzi E., Signorini S., Louie C.M., Bellacchio E., Bertini E., Dallapiccola B., Gleeson J.G. Nat. Genet. 38:623-625(2006) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF TRP-7, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
[6]	"The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4." Sayer J.A., Otto E.A., O'toole J.F., Nurnberg G., Kennedy M.A., Becker C., Hennies H.C., Helou J., Attanasio M., Fausett B.V., Utsch B., Khanna H., Liu Y., Drummond I., Kawakami I., Kusakabe T., Tsuda M., Ma L. , Lee H., Larson R.G., Allen S.J., Wilkinson C.J., Nigg E.A., Shou C., Lillo C., Williams D.S., Hoppe B., Kemper M.J., Neuhaus T., Parisi M.A., Glass I.A., Petry M., Kispert A., Gloy J., Ganner A., Walz G., Zhu X., Goldman D., Nurnberg P., Swaroop A., Leroux M.R., Hildebrandt F. Nat. Genet. 38:674-681(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[7]	"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F. , Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K. Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[8]	"A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition." Garcia-Gonzalo F.R., Corbit K.C., Sirerol-Piquer M.S., Ramaswami G., Otto E.A., Noriega T.R., Seol A.D., Robinson J.F., Bennett C.L., Josifova D.J., Garcia-Verdugo J.M., Katsanis N., Hildebrandt F., Reiter J.F. Nat. Genet. 43:776-784(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK029960 mRNA. Translation: BAC26700.1. AC153501 Genomic DNA. No translation available. AK172940 mRNA. Translation: BAD32218.1.
IPI	IPI00762098. IPI00798578.
RefSeq	NP_666121.2. NM_146009.2.
UniGene	Mm.229114.
3D structure databases
HSSP	HSSP built from PDB template 1ZW0 based on UniProtKB Q7ARI1.
ProteinModelPortal	Q6A078.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-46317N.
IntAct	Q6A078. 28 interactions.
PTM databases
PhosphoSite	Q6A078.
Proteomic databases
PaxDb	Q6A078.
PRIDE	Q6A078.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	216274.
KEGG	mmu:216274.
UCSC	uc007gxw.2. mouse. uc011xmr.1. mouse.
Organism-specific databases
CTD	80184.
MGI	MGI:2384917. Cep290.
Rouge	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOGENOM	HOG000111526.
HOVERGEN	HBG081077.
InParanoid	Q6A078.
KO	K16533.
OrthoDB	EOG4DR9BD.
Gene expression databases
ArrayExpress	Q6A078.
Bgee	Q6A078.
CleanEx	MM_CEP290.
Genevestigator	Q6A078.
GermOnline	ENSMUSG00000019971. Mus musculus.
Family and domain databases
InterPro	IPR026201. Cep290. [Graphical view]
PANTHER	PTHR18879. PTHR18879. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	CEP290. mouse.
NextBio	375097.
SOURCE	Search...

Entry information

Entry name

CE290_MOUSE

Accession

Primary (citable) accession number: Q6A078
Secondary accession number(s): Q8BIB8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	October 31, 2006
Last modified:	April 3, 2013
This is version 79 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program