Q7M6Z4
SS
Gene name |
Kif27 |
Protein name |
Kinesin-like protein KIF27 |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:75050 |
EC number |
|
Protein Class |
|
Descriptions
KIF7 is a kinesin-4 family member that plays a critical role in Hedgehog signaling in vertebrates. It is regulated by an autoinhibition mechanism via its inhibitory coiled coil segment. Truncation of the coiled coil segment relieves the autoinhibition of microtubule binding. Loss of autoinhibition, as seen in certain mutations, leads to strong microtubule binding and can be pathogenic for human diseases such as Joubert syndrome and acrocallosal syndrome.
Autoinhibitory domains (AIDs)
Target domain |
0-575 (N-terminal motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q7M6Z4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7M6Z4-F1 | Predicted | AlphaFoldDB |
100 variants for Q7M6Z4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3412178804 | 7 | K>* | No | EVA | |
| rs3389287096 | 7 | K>N | No | EVA | |
| rs3389298009 | 20 | V>I | No | EVA | |
| rs3402818669 | 52 | G>A | No | EVA | |
| rs224693327 | 59 | E>Q | No | EVA | |
| rs244619255 | 60 | V>I | No | EVA | |
| rs3389244377 | 76 | Y>N | No | EVA | |
| rs3389303372 | 84 | G>V | No | EVA | |
| rs3389270818 | 91 | T>K | No | EVA | |
| rs3389303295 | 102 | V>SDG* | No | EVA | |
| rs3389289695 | 147 | L>P | No | EVA | |
| rs3403790895 | 156 | L>LIFSDVKVLHRRLQL* | No | EVA | |
| rs51445448 | 179 | V>M | No | EVA | |
| rs3389244393 | 218 | V>D | No | EVA | |
| rs3389270767 | 230 | W>* | No | EVA | |
| rs47766330 | 233 | H>P | No | EVA | |
| rs3403525217 | 242 | F>I | No | EVA | |
| rs3402818604 | 242 | F>L | No | EVA | |
| rs3413071574 | 242 | F>Y | No | EVA | |
| rs1132131363 | 263 | E>D | No | EVA | |
| rs3389280162 | 269 | S>I | No | EVA | |
| rs48390272 | 286 | R>K | No | EVA | |
| rs255681682 | 309 | S>N | No | EVA | |
| rs3389288058 | 324 | D>E | No | EVA | |
| rs47801476 | 349 | I>L | No | EVA | |
| rs3389260501 | 432 | N>S | No | EVA | |
| rs249316072 | 466 | L>M | No | EVA | |
| rs3389297985 | 490 | A>S | No | EVA | |
| rs3389244336 | 524 | L>P | No | EVA | |
| rs46196754 | 543 | L>I | No | EVA | |
| rs3389288064 | 547 | Q>E | No | EVA | |
| rs3389295339 | 552 | L>F | No | EVA | |
| rs3389289755 | 562 | S>P | No | EVA | |
| rs223431274 | 575 | A>T | No | EVA | |
| rs51306588 | 590 | G>E | No | EVA | |
| rs3389260529 | 598 | R>K | No | EVA | |
| rs232216812 | 608 | T>P | No | EVA | |
| rs3389287176 | 678 | E>Q | No | EVA | |
| rs213888730 | 690 | Y>F | No | EVA | |
| rs3389280179 | 741 | K>N | No | EVA | |
| rs3389303341 | 777 | E>K | No | EVA | |
| rs3389283367 | 796 | K>N | No | EVA | |
| rs3389283373 | 809 | A>T | No | EVA | |
| rs3389283347 | 818 | Q>* | No | EVA | |
| rs3389288066 | 819 | K>R | No | EVA | |
| rs3389270741 | 821 | Q>L | No | EVA | |
| rs3389303373 | 843 | H>D | No | EVA | |
| rs3389253588 | 845 | V>L | No | EVA | |
| rs3389283337 | 847 | H>Y | No | EVA | |
| rs3412732447 | 853 | V>M | No | EVA | |
| rs3389244398 | 857 | R>K | No | EVA | |
| rs221062763 | 858 | R>Q | No | EVA | |
| rs3389284514 | 860 | R>P | No | EVA | |
| rs3389287100 | 879 | K>I | No | EVA | |
| rs223709021 | 887 | A>V | No | EVA | |
| rs213456195 | 894 | N>S | No | EVA | |
| rs3389215380 | 931 | E>V | No | EVA | |
| rs3389280146 | 940 | Q>P | No | EVA | |
| rs3389284551 | 968 | L>I | No | EVA | |
| rs211894278 | 1006 | E>A | No | EVA | |
| rs256157387 | 1010 | T>A | No | EVA | |
| rs3389289958 | 1017 | S>P | No | EVA | |
| rs3389253601 | 1035 | N>I | No | EVA | |
| rs237383316 | 1038 | D>N | No | EVA | |
| rs214051358 | 1042 | K>T | No | EVA | |
| rs3389283351 | 1053 | H>Q | No | EVA | |
| rs3389283359 | 1063 | E>* | No | EVA | |
| rs3389270809 | 1068 | A>T | No | EVA | |
| rs3389288062 | 1081 | N>K | No | EVA | |
| rs3404003021 | 1091 | S>T | No | EVA | |
| rs3403524211 | 1092 | Q>* | No | EVA | |
| rs3389287113 | 1136 | E>* | No | EVA | |
| rs46274790 | 1141 | V>I | No | EVA | |
| rs3389270777 | 1168 | L>F | No | EVA | |
| rs3389284476 | 1178 | Q>E | No | EVA | |
| rs237921498 | 1182 | Q>L | No | EVA | |
| rs3404536424 | 1205 | Q>L | No | EVA | |
| rs46966011 | 1229 | Q>K | No | EVA | |
| rs3389260538 | 1235 | Q>L | No | EVA | |
| rs50539937 | 1236 | R>S | No | EVA | |
| rs3389284524 | 1248 | V>I | No | EVA | |
| rs246536409 | 1251 | P>T | No | EVA | |
| rs3389215399 | 1262 | K>E | No | EVA | |
| rs3389280152 | 1270 | T>A | No | EVA | |
| rs3389295279 | 1271 | K>M | No | EVA | |
| rs3389295350 | 1277 | R>* | No | EVA | |
| rs3389260503 | 1278 | E>V | No | EVA | |
| rs238204565 | 1285 | S>C | No | EVA | |
| rs48737749 | 1305 | A>V | No | EVA | |
| rs247881097 | 1309 | I>L | No | EVA | |
| rs3389253571 | 1316 | L>P | No | EVA | |
| rs6319685 | 1319 | I>T | No | EVA | |
| rs6319674 | 1320 | A>T | No | EVA | |
| rs6319265 | 1330 | H>Q | No | EVA | |
| rs6319250 | 1335 | V>A | No | EVA | |
| rs3389303359 | 1335 | V>I | No | EVA | |
| rs6318739 | 1367 | M>V | No | EVA | |
| rs3389260519 | 1370 | S>L | No | EVA | |
| rs231688689 | 1379 | G>W | No | EVA | |
| rs6318211 | 1394 | N>S | No | EVA |
No associated diseases with Q7M6Z4
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| 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. |
| kinesin complex | Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| epithelial cilium movement involved in extracellular fluid movement | The directed, self-propelled movement of cilia of epithelial cells. Depending on the type of cell, there may be one or many cilia per cell. This movement is usually coordinated between many epithelial cells, and serves to move extracellular fluid. |
| 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. |
| microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| spindle elongation | The cell cycle process in which the distance is lengthened between poles of the spindle. |
| ventricular system development | The process whose specific outcome is the progression of the brain ventricular system over time, from its formation to the mature structure. The brain ventricular system consists of four communicating cavities within the brain that are continuous with the central canal of the spinal cord. These cavities include two lateral ventricles, the third ventricle and the fourth ventricle. Cerebrospinal fluid fills the ventricles and is produced by the choroid plexus. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z4S6 | KIF21A | Kinesin-like protein KIF21A | Homo sapiens (Human) | EV |
| O95239 | KIF4A | Chromosome-associated kinesin KIF4A | Homo sapiens (Human) | SS |
| Q2VIQ3 | KIF4B | Chromosome-associated kinesin KIF4B | Homo sapiens (Human) | SS |
| O75037 | KIF21B | Kinesin-like protein KIF21B | Homo sapiens (Human) | EV |
| Q2M1P5 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens (Human) | EV |
| Q86VH2 | KIF27 | Kinesin-like protein KIF27 | Homo sapiens (Human) | SS |
| Q61768 | Kif5b | Kinesin-1 heavy chain | Mus musculus (Mouse) | EV |
| P28738 | Kif5c | Kinesin heavy chain isoform 5C | Mus musculus (Mouse) | SS |
| P33175 | Kif5a | Kinesin heavy chain isoform 5A | Mus musculus (Mouse) | SS |
| Q9QXL2 | Kif21a | Kinesin-like protein KIF21A | Mus musculus (Mouse) | EV SS |
| Q9QXL1 | Kif21b | Kinesin-like protein KIF21B | Mus musculus (Mouse) | SS |
| Q99PW8 | Kif17 | Kinesin-like protein KIF17 | Mus musculus (Mouse) | SS |
| B7ZNG0 | Kif7 | Kinesin-like protein KIF7 | Mus musculus (Mouse) | SS |
| Q9EQW7 | Kif13a | Kinesin-like protein KIF13A | Mus musculus (Mouse) | SS |
| F1M5N7 | Kif21b | Kinesin-like protein KIF21B | Rattus norvegicus (Rat) | SS |
| Q7M6Z5 | Kif27 | Kinesin-like protein KIF27 | Rattus norvegicus (Rat) | SS |
| Q58G59 | kif7 | Kinesin-like protein kif7 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEIPIKVAV | RIRPLLCKEV | LHNHQVCVRD | IPNTQQIIIG | RDRVFTFDFV | FGKNSTQDEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YNTCIKPLVL | SLIEGYNATV | FAYGQTGSGK | TYTIGGGHVA | SVVEGQKGII | PRAIQEIFQS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ISENPSIDFK | IKVSYIEVYK | EDLRDLLELE | TSMKDLHIRE | DEKGNTVIVG | AKECQVESVE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DVMSLLQVGN | AARHTGTTQM | NEHSSRSHAI | FTISVCQVEK | NAEAAENGEW | YSHRHIVSKF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HFVDLAGSER | VTKTGNTGER | FKESIQINSG | LLALGNVISA | LGDPRRKSSH | IPYRDAKITR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLKDSLGGSA | KTVMITCVSP | SSSDFDESLN | SLKYANRARN | IRNKPALNIS | PQADRMDEME |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FEIKLLREAL | QSHQASISQA | SQASSENVPD | QNRIHSLEEQ | VAQLQEECLG | YQDCIEQAFA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FLVDLKDAVK | LNQKQQHKLQ | EWFSRTQEVR | KAVLTPLPGN | QGIGNLEEGP | QHLTVLQLKR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELKKYQCALA | ADQVVFTQKD | LELEELRTQV | QLMMQESKGH | AVSLKEAQKV | NRLQNEKIIE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QQLLVDQLSA | ELAKRSLSVP | TSAKESCGDG | PDARASEKRP | HTAPFESHWG | HYVYIPSRQD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FKKVCSSTPV | YSLDQVFAGF | RTRSQMLMGH | LEDQDEVLHC | QFSDNSDDED | SEGQEKPRVR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SRSHSWAKKP | GSVCSLVELS | DTQAESQRSY | LGNGDLKMES | LQESQEINLQ | KLRTSELILN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KAKQKMRELT | INIRMKEDLI | KELIKTGNNA | KSVSRQYSLK | VTKLEHEAEQ | AKVELTETRK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QLQELESKDL | SDVALKVKLQ | KEFRKKMDAA | KMRVQVLQKK | QQDSKKLASL | SIQNEKRASE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LEHNVDHLKY | QKVQLQRRLR | EEGEKKKQLD | AEIKRDQQKI | KELQLKAGQG | EGLNPKAEDQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DGFNLNRRKS | PFRSGDQFQK | LDEQRKWLDE | EVEKVLSQRQ | ELEMLEEDLK | KREAIVSKKE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ALLQEKSLLE | NKKLRSSQAL | STDGLKISAR | LNLLDQELSE | KSLQLESSPT | EEKMKISEQV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| QALQRERDQL | QRQRNSVDER | LKHGRVLSPK | EEHLLFQLEE | GIEALEAAIE | FKNESIQSRQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| NSLKASFQNL | SQSEANVLEK | LVCLNITEIR | AILFKYFNKV | INLRETERKQ | QLQNKEMKMK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VLERDNVVHE | LESALEHLRL | QCDRRLTLQQ | KEHEQKMQLL | LQHFKDQDGD | SIIETLKNYE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| DKIQQLEKDL | YFYKKTSRDL | KKRLKDPAQG | AAQWQRTLTE | HHDAGDGVLN | PEETTVLSEE |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| LKWASRTENT | KLNGSEREVD | NSSSSLKTQP | LTQQIPEDGP | DSLPARSSIA | PSSGQLQSIA |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| DKTEARPFTH | SQSPVPHQFQ | PVRSIGPLQG | VKPVKLCRRE | LRQISAMELS | LRRCSLGAGG |
| 1390 | |||||
| RSMTADSLED | PEEN |