Q6A078
Gene name |
Cep290 (Kiaa0373, Nphp6) |
Protein name |
Centrosomal protein of 290 kDa |
Names |
Cep290 , Bardet-Biedl syndrome 14 protein homolog , Nephrocystin-6 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:216274 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
1960-2472 (C-terminal autoinhibitory region) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
1-574 (N-terminal autoinhibitory region) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q6A078
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q6A078-F1 | Predicted | AlphaFoldDB |
108 variants for Q6A078
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs49120672 | 45 | Q>H | No | EVA | |
rs3389127110 | 76 | A>V | No | EVA | |
rs3389100745 | 185 | E>D | No | EVA | |
rs3389130423 | 204 | K>* | No | EVA | |
rs3389098022 | 204 | K>R | No | EVA | |
rs864268774 | 256 | L>H | No | EVA | |
rs254233376 | 260 | S>T | No | EVA | |
rs3389123185 | 273 | H>Q | No | EVA | |
rs3401325534 | 311 | S>F | No | EVA | |
rs3401325544 | 382 | K>P | No | EVA | |
rs240268672 | 394 | F>I | No | EVA | |
rs3389123131 | 401 | M>V | No | EVA | |
rs1132633228 | 416 | E>* | No | EVA | |
rs1135075776 | 418 | E>D | No | EVA | |
rs1132013941 | 419 | R>K | No | EVA | |
rs1131883409 | 427 | D>V | No | EVA | |
rs1134539735 | 427 | D>Y | No | EVA | |
rs3389136243 | 482 | K>M | No | EVA | |
rs3389136199 | 500 | R>L | No | EVA | |
rs45648945 | 516 | N>S | No | EVA | |
rs235456087 | 519 | R>W | No | EVA | |
rs3389134216 | 532 | L>P | No | EVA | |
rs3507946147 | 533 | L>F | No | EVA | |
rs3507955822 | 535 | E>D | No | EVA | |
rs3548151163 | 569 | D>E | No | EVA | |
rs3548354602 | 597 | N>S | No | EVA | |
rs224211307 | 618 | E>Q | No | EVA | |
rs3548211366 | 688 | I>V | No | EVA | |
rs3548151162 | 714 | R>K | No | EVA | |
rs252481418 | 722 | N>T | No | EVA | |
rs47411663 | 797 | D>H | No | EVA | |
rs1134722279 | 833 | M>I | No | EVA | |
rs216071580 | 866 | S>L | No | EVA | |
rs213074054 | 915 | V>I | No | EVA | |
rs3389125735 | 927 | G>R | No | EVA | |
rs46353812 | 937 | I>T | No | EVA | |
rs3401540325 | 938 | F>L | No | EVA | |
rs50828175 | 964 | N>S | No | EVA | |
rs3401528182 | 982 | Q>L | No | EVA | |
rs245622714 | 1003 | A>T | No | EVA | |
rs3548248093 | 1010 | I>L | No | EVA | |
rs48945758 | 1041 | M>V | No | EVA | |
rs3548190703 | 1065 | Q>E | No | EVA | |
rs3389090723 | 1103 | L>M | No | EVA | |
rs3389123178 | 1111 | M>I | No | EVA | |
rs3389127160 | 1111 | M>T | No | EVA | |
rs3389134227 | 1114 | D>V | No | EVA | |
rs213575946 | 1121 | T>N | No | EVA | |
rs238858747 | 1154 | D>N | No | EVA | |
rs3389098079 | 1167 | Q>K | No | EVA | |
rs3389121390 | 1188 | S>T | No | EVA | |
rs3389127102 | 1194 | I>N | No | EVA | |
rs248438349 | 1206 | I>V | No | EVA | |
rs221724008 | 1213 | G>S | No | EVA | |
rs3389127086 | 1216 | E>* | No | EVA | |
rs864271371 | 1296 | Q>H | No | EVA | |
rs3389124204 | 1312 | T>R | No | EVA | |
rs243825176 | 1332 | A>T | No | EVA | |
rs1132670285 | 1338 | V>E | No | EVA | |
rs3412846140 | 1365 | E>A | No | EVA | |
rs3389064987 | 1370 | N>I | No | EVA | |
rs3389098108 | 1415 | F>L | No | EVA | |
rs46526661 | 1470 | S>A | No | EVA | |
rs3389134221 | 1504 | P>L | No | EVA | |
rs3548161712 | 1509 | R>Q | No | EVA | |
rs47664502 | 1533 | H>Q | No | EVA | |
rs46581033 | 1544 | N>T | No | EVA | |
rs216441369 | 1559 | K>R | No | EVA | |
rs251266692 | 1601 | L>I | No | EVA | |
rs3401627565 | 1646 | E>* | No | EVA | |
rs3401449269 | 1652 | T>S | No | EVA | |
rs3401325502 | 1653 | E>D | No | EVA | |
rs3401687575 | 1654 | L>F | No | EVA | |
rs3401325525 | 1655 | K>* | No | EVA | |
rs46424226 | 1686 | H>N | No | EVA | |
rs3548205749 | 1722 | D>E | No | EVA | |
rs3389117491 | 1741 | A>V | No | EVA | |
rs3389100796 | 1742 | L>M | No | EVA | |
rs3389127083 | 1763 | Q>H | No | EVA | |
rs3389098072 | 1772 | Q>K | No | EVA | |
rs3389117439 | 1773 | V>F | No | EVA | |
rs3389117439 | 1773 | V>L | No | EVA | |
rs3389100740 | 1774 | V>I | No | EVA | |
rs3401325528 | 1861 | I>L | No | EVA | |
rs255973316 | 1935 | K>R | No | EVA | |
rs3548211226 | 1944 | F>C | No | EVA | |
rs245054398 | 1949 | K>R | No | EVA | |
rs3389113457 | 1986 | K>E | No | EVA | |
rs3389124201 | 1987 | N>I | No | EVA | |
rs47230766 | 2037 | Q>E | No | EVA | |
rs3389127097 | 2090 | L>M | No | EVA | |
rs864308914 | 2139 | Q>R | No | EVA | |
rs3389064948 | 2146 | K>R | No | EVA | |
rs46705480 | 2158 | A>G | No | EVA | |
rs235473592 | 2166 | N>K | No | EVA | |
rs864283658 | 2199 | E>G | No | EVA | |
rs222042736 | 2211 | I>M | No | EVA | |
rs3389100738 | 2252 | L>M | No | EVA | |
rs3389136241 | 2260 | W>* | No | EVA | |
rs3389130422 | 2292 | Q>* | No | EVA | |
rs3401529243 | 2315 | I>F | No | EVA | |
rs3389127169 | 2316 | E>K | No | EVA | |
rs3401627540 | 2317 | I>N | No | EVA | |
rs3389134246 | 2343 | N>Y | No | EVA | |
rs223207986 | 2345 | M>L | No | EVA | |
rs221269142 | 2359 | N>Y | No | EVA | |
rs246781126 | 2369 | I>T | No | EVA | |
rs50087397 | 2389 | L>S | No | EVA |
1 associated diseases with Q6A078
Without disease ID
1 regional properties for Q6A078
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Centrosomal protein of 290kDa, coiled-coil region | 1283 - 1410 | IPR032321 |
Functions
15 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. |
centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
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 basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
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. |
cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
MKS complex | A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane. |
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. |
photoreceptor connecting cilium | The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone. |
photoreceptor distal connecting cilium | The distal region of the photoreceptor connecting cilium is structurally unique to the photoreceptor and is maintained by retina-specific protein, SPATA7, and its interacting partners RPGR and RPGRIP1. It is essential for photoreceptor sensory cilium stability. |
photoreceptor outer segment | The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins. |
photoreceptor proximal connecting cilium | The proximal region of the photoreceptor connecting cilium is similar to the transition zone of unspecialized primary cilia and houses several major transition zone complexes, including NPHP, MKS, and RPGR. |
protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
rod photoreceptor outer segment | The outer segment of a vertebrate rod photoreceptor that contains sealed membrane discs that are not connected to the ciliary membrane and containing rhodopsin photoreceptor proteins. |
No GO annotations of molecular function
Name | Definition |
---|---|
No GO annotations for molecular function |
20 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. |
cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
determination of left/right symmetry | The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
establishment or maintenance of cell polarity | Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
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. |
heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
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). |
kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
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. |
photoreceptor cell maintenance | Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light. |
positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
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. |
regulation of establishment of protein localization | Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. |
retina development in camera-type eye | The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. |
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 |