P85001

SS
Gene name
cep290 (im:7145703)
Protein name
Centrosomal protein of 290 kDa
Names
Cep290
Species
Danio rerio (Zebrafish) (Brachydanio rerio)
KEGG Pathway
EC number
Protein Class

Descriptions

CEP290 plays a critical role in the formation and function of the primary cilium and, when mutated, is responsible for a variety of devastating human diseases. CEP290 activity was regulated by 2 autoinhibitory domains within its N(1-580) and C termini(1966-2479), both of which were found to play critical roles in regulating ciliogenesis. The 2 novel regulatory regions of the protein cooperate to inhibit CEP290 function, binding to each other and causing a conformational change in the protein, stabilized by the binding of CP110, that obscures important functional domains and decreases protein function.

Autoinhibitory domains (AIDs)

1-575 (N-terminal autoinhibitory region) SS

Target domain

1950-2439 (C-terminal autoinhibitory region)

Relief mechanism

Partner binding

Assay

1950-2439 (C-terminal autoinhibitory region) SS

Target domain

1-575 (N-terminal autoinhibitory region)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for P85001

Entry ID Method Resolution Chain Position Source
AF-P85001-F1 Predicted AlphaFoldDB

No variants for P85001

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for P85001

No associated diseases with P85001

1 regional properties for P85001

Type Name Position InterPro Accession
domain Centrosomal protein of 290kDa, coiled-coil region 1272 - 1399 IPR032321

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite
  • Nucleus
  • Cytoplasm, cytoskeleton, cilium basal body
  • Localizes at the transition zone, a region between the basal body and the ciliary axoneme
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
centriolar satellite A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
ciliary transition zone A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

10 GO annotations of biological process

Name Definition
camera-type eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.
ciliary basal body-plasma membrane docking The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane.
ciliary transition zone assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone.
eye photoreceptor cell development Development of a photoreceptor, a sensory cell in the eye that reacts to the presence of light. They usually contain a pigment that undergoes a chemical change when light is absorbed, thus stimulating a nerve.
hindbrain development The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium).
non-motile cilium assembly The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium.
otic vesicle formation The process resulting in the transition of the otic placode into the otic vesicle, a transient embryonic structure formed during development of the vertebrate inner ear.
positive regulation of intracellular protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells.
pronephros development The process whose specific outcome is the progression of the pronephros over time, from its formation to the mature structure. In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensable for larval life.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O15078 CEP290 Centrosomal protein of 290 kDa Homo sapiens (Human) EV
Q6A078 Cep290 Centrosomal protein of 290 kDa Mus musculus (Mouse) SS
10 20 30 40 50 60
MPAAADWRLL MGMDPEDLGD EDEKICDLIL MVKPRDLKAD DSEKMIQLFR ISQTLLRMKL
70 80 90 100 110 120
DEIKCAYEVV DSAGAEQARI ENELKAKVLK LESELEMAQR VMGGGDKHFL RDEIRQLESH
130 140 150 160 170 180
LERKEKEVTQ LEKEMGKERK SNEELALRAE EAEEKNRKLK REIKQLTRKN EQLQQDIEFY
190 200 210 220 230 240
RKEAEQRESL QTKEESNEIQ RRLTKANQQL YQCMEELQHA EDMAANLRSE NEHLQKNLEE
250 260 270 280 290 300
SVKEMEKMTD EYNKMKIAVQ QTDAIMDQLR KDRDHAKLQV RELTDQIQAR VEEDDPVMAA
310 320 330 340 350 360
VNAKVEEWKS VLSGKDLEIL EYQQMIRDLR EKLRTAQMDS DKSNIIALQQ AVQERDNQIK
370 380 390 400 410 420
MLSEQVEQYT TEMERNAMLI EELKRPLKKD KGHSSDHQRR LEDLSAKLQV AERKVLEAQR
430 440 450 460 470 480
AAQLAERDAR DKDKELNDTL SRIRLYESGT DGLEAAISEI KECKNQIRVR DREIEGMIKE
490 500 510 520 530 540
INQLEMKINN LLDENEDLRE RLGLNPKEEL DLSEFRRSKI LKQRQYKAEN QVLLKEIERL
550 560 570 580 590 600
EEERLELKQR IRALVKDKGV TVVSNSLLDN SVEEKPVRSL RPSSGSTDDE IKRKNERLQK
610 620 630 640 650 660
ELSNKEKELE LRRSESAQFK AKLNEMLNEN KQLEQGMKEI LQAIQDTQKK TPTSTGVSIP
670 680 690 700 710 720
SLERLVNALE MKYSEGKFDA SLHLRTQVDQ LTGRNEELRL EMKTAREEAA NTLSQLTKAN
730 740 750 760 770 780
EKIARLESEM ESMSKSTGSS IPHKTLALPE EMTPTSAEAI NALNEYTVQL LQEIKNKGDS
790 800 810 820 830 840
IEQLGSALEE YKRKFAVIRH QQGLLYKEHQ SERESWQKER DSFAELKSKL EEQREVDAVK
850 860 870 880 890 900
IKEYNHLLET LEKDPSEIRR EMAETGRKIV VLRVNEKCLT RRYTTLLELE QHLRKENAKL
910 920 930 940 950 960
KEDFTQMQAV VTERIGYLQR FKEMAAFKMA SLQKSLDVSV PASELERANK QYTELTIKYR
970 980 990 1000 1010 1020
NLLQKDNHLV QKTTSLEHLE TENMSLRERI DSINKELEIS KEKLHTLEQA FENISTTGGE
1030 1040 1050 1060 1070 1080
IIMDKATKAV ANSEIVSVSR RITTLEMKEL NERQRAEHAQ KMYEHLRNSL KQVEERNFEL
1090 1100 1110 1120 1130 1140
ETKFAELTKL NLEAQRIERE LRDELADSVS KHISDADRKR ITELEKTEAN LRIEVSKLRE
1150 1160 1170 1180 1190 1200
VSDVAKMQVS ALDARQQSRE KEVESLRRQV LDYQAESDEK ALIAKLHQHI VALQLSETTA
1210 1220 1230 1240 1250 1260
ISRLEATNTR LQKLEAQKLR DEQKLDEQQQ ALWHARQEGH QRARHLRHTI QALRRQFSGA
1270 1280 1290 1300 1310 1320
LPLAQQEKFS NTMLHLQEDR ARVREDAQIA EEERRKAEGK AQELELKLKG LEELIATLKD
1330 1340 1350 1360 1370 1380
AKGAQKVSEW HKKLEDVRLL EMRQSRELNT QREEIKYLKN CVAEQECTIS GLEEELVQQN
1390 1400 1410 1420 1430 1440
NLLEERQLIW DQREVQLERQ LDSYEKQQNE VLNTAQKFEE ATGSLPDPNQ PLANQLDYAL
1450 1460 1470 1480 1490 1500
GKIKEHVRTI LETKTTCKIL EEKLKEKEAA LWSSEQNVLS RDKVINELRL RLPAAAEREK
1510 1520 1530 1540 1550 1560
LLADLSKQED SESQPTLKVA HQTINNLQGR LDQKEEVLKK YQNLLGKARQ EQEEIAKRHE
1570 1580 1590 1600 1610 1620
EEVRALHQKL DVYMDTSLDR FKQTALELIK KPTITVPTSK HLVRLAEMEQ TVAEQDNSLS
1630 1640 1650 1660 1670 1680
SLSQKLKIVT QELDQQRQVT AAQAMEHAAD MARLEDKHAA QMKGLSQEAE ELRAQLIQME
1690 1700 1710 1720 1730 1740
KELHYLRTEL EAQKEANVRS PSNTMKNLVE RLKNQLALKE KQLKALSKAL LELRAELTSQ
1750 1760 1770 1780 1790 1800
AEQQIITNAA QKEEALNVQQ IVDKQTKELR ACVRDLNEEL QLAKDGVRAA KARENSLKED
1810 1820 1830 1840 1850 1860
LETLNKDLQR SQKSQNKLQS EKEALEEHLN ELKKKIQRLS SGLQAQVESD GPTVDSLQKK
1870 1880 1890 1900 1910 1920
IRKLEHELDR KSISEPADKR STLKEDKSSK EEVVRWEEGK KWQARVDKMR NVLKEKEREV
1930 1940 1950 1960 1970 1980
DSQAKQLATM KELYSRLEQE KVSLQKKLKG RGVTADQVVG ARTLEADKEI EELHKRNAEL
1990 2000 2010 2020 2030 2040
EQQIKVMKQQ QALPRDAAME DITIRNRYLE ERLYSMESRL SKEPPSRPST SGRGSDTPSQ
2050 2060 2070 2080 2090 2100
REHEFQKENL RLSTENLELR FQLEQANKDL PRLKDQVSDL KEMCSVLKKE KAEVEKRLSH
2110 2120 2130 2140 2150 2160
LRGSGRSGKT IPELEKTIGL MKKVVEKVQR ENENLKKTSE VNVQEQLATL ERDHEKLKSE
2170 2180 2190 2200 2210 2220
YEKLKGKQEE QLNSRLESKT KGIEKIMMEN ERLRKEIKKE AEAAEKLRVA KASLEVANEK
2230 2240 2250 2260 2270 2280
LKAELEETHQ RLLLAQSKGA TLLGVDSKTW KSSVVTRLFE NKMKGLESDI AKKNISISEL
2290 2300 2310 2320 2330 2340
KVQLKEANEK LQATQHTVIQ LKEQVELLKN VPVEATTDEG LAREYQSVRL ANKQLEREKA
2350 2360 2370 2380 2390 2400
QLLRQIQRNE VQLGTNKDGP GYTELQEQIK AANNEKKKLQ DEVRKLTQEL KHFDPTFFEE
2410 2420 2430
LEDLKFNYNL EVKKNIVLEE QLKKLSDQFG VAIPDVSIN