A9Q751
PR
Gene name |
Cfap221 |
Protein name |
Cilia- and flagella-associated protein 221 |
Names |
Primary ciliary dyskinesia protein 1 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:226356 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for A9Q751
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A9Q751-F1 | Predicted | AlphaFoldDB |
57 variants for A9Q751
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs223256084 | 2 | E>K | No | EVA | |
| rs3388492689 | 18 | F>C | No | EVA | |
| rs3388494683 | 23 | P>L | No | EVA | |
| rs3388494597 | 30 | V>L | No | EVA | |
| rs3388495671 | 34 | K>N | No | EVA | |
| rs3388492737 | 39 | V>M | No | EVA | |
| rs248001536 | 74 | S>N | No | EVA | |
| rs240248732 | 74 | S>R | No | EVA | |
| rs212064282 | 75 | K>E | No | EVA | |
| rs3388493693 | 79 | I>V | No | EVA | |
| rs3388493814 | 87 | D>E | No | EVA | |
| rs264437384 | 100 | K>N | No | EVA | |
| rs3388495808 | 103 | Q>K | No | EVA | |
| rs3388494865 | 133 | Y>S | No | EVA | |
| rs3388493737 | 153 | A>V | No | EVA | |
| rs250985004 | 220 | K>R | No | EVA | |
| rs3388494878 | 253 | F>L | No | EVA | |
| rs3388492463 | 256 | T>I | No | EVA | |
| rs220382388 | 287 | Y>H | No | EVA | |
| rs3388495660 | 330 | P>R | No | EVA | |
| rs3388492998 | 357 | A>E | No | EVA | |
| rs3388493701 | 363 | V>L | No | EVA | |
| rs3388495686 | 407 | Q>H | No | EVA | |
| rs3388493764 | 412 | P>L | No | EVA | |
| rs3388495733 | 417 | E>* | No | EVA | |
| rs3388494812 | 438 | R>G | No | EVA | |
| rs3388493022 | 438 | R>K | No | EVA | |
| rs3388490878 | 448 | L>P | No | EVA | |
| rs3388493762 | 448 | L>V | No | EVA | |
| rs3388495834 | 451 | N>K | No | EVA | |
| rs3388492707 | 451 | N>S | No | EVA | |
| rs3388492427 | 455 | T>N | No | EVA | |
| rs3388494868 | 464 | Q>* | No | EVA | |
| rs231461741 | 490 | S>G | No | EVA | |
| rs3388495447 | 490 | S>R | No | EVA | |
| rs214384284 | 493 | R>K | No | EVA | |
| rs257162455 | 496 | I>V | No | EVA | |
| rs3388492728 | 501 | K>N | No | EVA | |
| rs224072563 | 515 | H>R | No | EVA | |
| rs263240235 | 524 | R>H | No | EVA | |
| rs239245329 | 530 | E>K | No | EVA | |
| rs3388493238 | 550 | D>E | No | EVA | |
| rs3390548733 | 552 | L>P | No | EVA | |
| rs237390159 | 560 | P>S | No | EVA | |
| rs3388494127 | 565 | K>M | No | EVA | |
| rs3388494596 | 585 | H>Q | No | EVA | |
| rs3388493800 | 643 | A>S | No | EVA | |
| rs3388494608 | 653 | I>N | No | EVA | |
| rs3388494125 | 664 | K>N | No | EVA | |
| rs1135242193 | 665 | H>L | No | EVA | |
| rs212045110 | 692 | M>K | No | EVA | |
| rs30682117 | 744 | S>P | No | EVA | |
| rs243987122 | 745 | V>L | No | EVA | |
| rs30682118 | 757 | D>N | No | EVA | |
| rs3388494122 | 781 | T>A | No | EVA | |
| rs30683936 | 785 | V>I | No | EVA | |
| rs3388495202 | 802 | D>H | No | EVA |
No associated diseases with A9Q751
No regional properties for A9Q751
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A9Q751 | |||
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| 9+2 motile cilium | A motile cilium where the axoneme has a ring of nine outer microtubule doublets plus two central microtubules (and is therefore called a 9+2 axoneme). |
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| manchette | A tubular array of microtubules that extends from the perinuclear ring surrounding the spermatid nucleus to the flagellar axoneme. The manchette may also contain F-actin filaments. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cerebrospinal fluid circulation | The neurological system process driven by motile cilia on ependymal cells of the brain by which cerebrospinal fluid circulates from the sites of secretion to the sites of absorption. In ventricular cavities, the flow is unidirectional and rostrocaudal, in subarachnoid spaces, the flow is multi-directional. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a motile cilium. |
| mucociliary clearance | The respiratory system process driven by motile cilia on epithelial cells of the respiratory tract by which mucus and associated inhaled particles and pathogens trapped within it are moved out of the airways. |
| sperm flagellum assembly | The assembly and organization of the sperm flagellum, the microtubule-based axoneme and associated structures that are part of a sperm flagellum (or cilium). |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4G0U5 | CFAP221 | Cilia- and flagella-associated protein 221 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVVKSPMQE | LQQAKEPFDT | MSPLLLKSLV | EEPKKRTEVP | NHLLESRVYA | KLLNNKVIQA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RPGIVHFGGY | EIESKHQQIL | NIANISDEDT | HLHILPPQTK | YFQINFEKKE | HRLIPGLSLT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTITFSPDEW | RYYYDCIRIH | CKGDDTLLVP | IHAYPVLNNL | DFPTFINLSD | VFLGESKSYV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IPLQCSCPVD | FEFHITLLRS | HQAFTIEPKS | GIIPANGKAK | VTVKFTPIQY | GMAQIKIQLW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ISQFNSQPYE | CVFTGTCYPN | MALPLEEFKR | LNTRSKKVNV | PLEKTTYVQF | YPAPAKAKPQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLKEIDYQDL | RFPADLSNPF | AVATVLNQEP | GKLKIKELKQ | VLDQGDEISK | TRQMKEAIFE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QKVRQDILTE | IENHLKWQVH | LGKEHTTYRF | KRELTEEWKK | ARAKYKQNRG | DPVEGEELQR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQTEQSQKRI | VRDLKGKRQE | FHPNFDPLVN | NVWLTRHRAQ | RRFQQAARKI | MLERRLLSML |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GAIRGMDKES | ILRKIIQVNG | KLIQGENPSR | GRRAHLKQED | NIWRYSLESE | EVLHFAFPTD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SESYNELALD | GLGLVPIKSP | EIQIKHSYPY | FTLKVPQLYK | IKGYHPFSVN | KSSTNYRLQK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LARPLKHGAE | DEVTTIITIP | KKDTTPLSAK | PSILSMKPPE | GLAMSVEYDP | LYIFNPSPGL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FAVKHPLTYA | ETLIDYHLCS | HPKYKYTQES | HMGSSIPLTQ | RQFLHHTDII | PGIMNWKKFQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PLVFSSMSDP | SMVEATQRSD | WYSSVMLPID | VPAPLEDLPE | EDRLETTERD | LCDQGIEVML |
| 790 | 800 | 810 | 820 | 830 | |
| TPEMVQVEFP | MLIHRDSKKE | KDFKDSTQLP | EKVGERVQEE | MKNLRSKALN | TYLILD |