Q69ZN7
PR
Gene name |
Myof (Fer1l3, Kiaa1207) |
Protein name |
Myoferlin |
Names |
Fer-1-like protein 3 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:226101 |
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 Q69ZN7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q69ZN7-F1 | Predicted | AlphaFoldDB |
124 variants for Q69ZN7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3408830207 | 35 | T>R | No | EVA | |
| rs46477910 | 65 | L>M | No | EVA | |
| rs37575356 | 66 | V>A | No | EVA | |
| rs3389516408 | 77 | Q>R | No | EVA | |
| rs3389541968 | 78 | N>K | No | EVA | |
| rs3389542010 | 81 | I>F | No | EVA | |
| rs31052565 | 92 | I>T | No | EVA | |
| rs3389547220 | 95 | Q>H | No | EVA | |
| rs3389516410 | 103 | Q>P | No | EVA | |
| rs256045155 | 104 | T>N | No | EVA | |
| rs3389530857 | 115 | G>R | No | EVA | |
| rs3389539206 | 115 | G>V | No | EVA | |
| rs3389445374 | 131 | H>Y | No | EVA | |
| rs241883672 | 135 | P>L | No | EVA | |
| rs237136106 | 187 | S>N | No | EVA | |
| rs3389553116 | 188 | S>I | No | EVA | |
| rs3389547233 | 207 | E>G | No | EVA | |
| rs3389530866 | 222 | V>L | No | EVA | |
| rs3410966590 | 237 | N>S | No | EVA | |
| rs3389536664 | 255 | E>K | No | EVA | |
| rs3389502511 | 271 | L>* | No | EVA | |
| rs3389539164 | 274 | D>V | No | EVA | |
| rs3389553117 | 291 | P>S | No | EVA | |
| rs3389539189 | 292 | G>D | No | EVA | |
| rs3389516378 | 312 | A>T | No | EVA | |
| rs3389445401 | 329 | P>L | No | EVA | |
| rs3389538333 | 335 | D>E | No | EVA | |
| rs3389553044 | 348 | L>* | No | EVA | |
| rs3389492336 | 348 | L>I | No | EVA | |
| rs3389538305 | 386 | G>D | No | EVA | |
| rs3389539236 | 442 | V>I | No | EVA | |
| rs3389539239 | 457 | T>M | No | EVA | |
| rs3389530879 | 465 | A>T | No | EVA | |
| rs3389532201 | 476 | G>V | No | EVA | |
| rs3389542011 | 477 | E>V | No | EVA | |
| rs3389542007 | 478 | T>R | No | EVA | |
| rs3389516351 | 479 | E>D | No | EVA | |
| rs3389530915 | 479 | E>G | No | EVA | |
| rs3389537783 | 506 | P>L | No | EVA | |
| rs3389445335 | 520 | Y>C | No | EVA | |
| rs3389547247 | 525 | F>L | No | EVA | |
| rs3389516365 | 540 | K>N | No | EVA | |
| rs3407224802 | 566 | V>L | No | EVA | |
| rs1131991174 | 581 | Q>E | No | EVA | |
| rs3412162618 | 585 | S>C | No | EVA | |
| rs1133009192 | 586 | I>M | No | EVA | |
| rs1135220865 | 586 | I>S | No | EVA | |
| rs3389548443 | 587 | G>A | No | EVA | |
| rs3389542030 | 602 | S>T | No | EVA | |
| rs3389537693 | 603 | T>I | No | EVA | |
| rs3389502576 | 620 | P>L | No | EVA | |
| rs3389532221 | 644 | V>M | No | EVA | |
| rs3389530894 | 680 | K>E | No | EVA | |
| rs3389538331 | 712 | L>* | No | EVA | |
| rs3389553109 | 713 | R>G | No | EVA | |
| rs3389547227 | 715 | R>W | No | EVA | |
| rs3389536619 | 735 | K>T | No | EVA | |
| rs3389548437 | 772 | R>G | No | EVA | |
| rs3389547248 | 838 | S>I | No | EVA | |
| rs3389516379 | 853 | N>K | No | EVA | |
| rs225287483 | 897 | D>E | No | EVA | |
| rs3389547209 | 1006 | R>M | No | EVA | |
| rs228908959 | 1010 | L>M | No | EVA | |
| rs260388462 | 1021 | T>M | No | EVA | |
| rs3389537742 | 1025 | T>I | No | EVA | |
| rs3389516396 | 1027 | R>G | No | EVA | |
| rs3389492280 | 1031 | E>D | No | EVA | |
| rs3389492362 | 1054 | S>R | No | EVA | |
| rs3389538274 | 1085 | L>R | No | EVA | |
| rs38359395 | 1094 | E>D | No | EVA | |
| rs3409122904 | 1111 | A>P | No | EVA | |
| rs1133619657 | 1118 | C>* | No | EVA | |
| rs3389547249 | 1127 | H>Q | No | EVA | |
| rs3389530878 | 1176 | T>I | No | EVA | |
| rs3409313346 | 1187 | E>D | No | EVA | |
| rs3409206460 | 1187 | E>V | No | EVA | |
| rs3389538334 | 1226 | N>Y | No | EVA | |
| rs3389532261 | 1235 | L>I | No | EVA | |
| rs3408509262 | 1261 | K>R | No | EVA | |
| rs3389536678 | 1279 | M>V | No | EVA | |
| rs3389532217 | 1294 | E>K | No | EVA | |
| rs3389529628 | 1329 | V>M | No | EVA | |
| rs3389536633 | 1332 | S>G | No | EVA | |
| rs3389530869 | 1343 | V>L | No | EVA | |
| rs228166463 | 1357 | M>I | No | EVA | |
| rs265381722 | 1357 | M>T | No | EVA | |
| rs3409037320 | 1363 | K>N | No | EVA | |
| rs3409122918 | 1364 | V>D | No | EVA | |
| rs3389536677 | 1383 | H>R | No | EVA | |
| rs3389541969 | 1384 | L>V | No | EVA | |
| rs3389516348 | 1385 | D>* | No | EVA | |
| rs37181646 | 1388 | R>W | No | EVA | |
| rs3389492311 | 1401 | Q>* | No | EVA | |
| rs3389532259 | 1406 | L>M | No | EVA | |
| rs3389548400 | 1413 | R>Q | No | EVA | |
| rs3389536656 | 1413 | R>W | No | EVA | |
| rs3389553086 | 1460 | K>N | No | EVA | |
| rs233419927 | 1521 | S>G | No | EVA | |
| rs3408166537 | 1534 | D>G | No | EVA | |
| rs3389492326 | 1548 | Q>R | No | EVA | |
| rs3389548459 | 1551 | Q>E | No | EVA | |
| rs3389537746 | 1573 | V>E | No | EVA | |
| rs3389484791 | 1618 | D>G* | No | EVA | |
| rs3389553099 | 1656 | D>V | No | EVA | |
| rs3389548381 | 1701 | K>T | No | EVA | |
| rs3389492367 | 1719 | L>P | No | EVA | |
| rs3389529651 | 1731 | T>I | No | EVA | |
| rs3389547274 | 1737 | T>S | No | EVA | |
| rs3389536673 | 1747 | L>H | No | EVA | |
| rs3389532224 | 1771 | K>I | No | EVA | |
| rs37220677 | 1783 | N>D | No | EVA | |
| rs3389536653 | 1795 | T>A | No | EVA | |
| rs3389537720 | 1802 | I>N | No | EVA | |
| rs3389529596 | 1851 | A>T | No | EVA | |
| rs3389537748 | 1862 | T>K | No | EVA | |
| rs3389532256 | 1894 | H>L | No | EVA | |
| rs3389492305 | 1898 | I>V | No | EVA | |
| rs3389502549 | 1901 | K>T | No | EVA | |
| rs3389484768 | 1917 | M>L | No | EVA | |
| rs37096150 | 1946 | T>A | No | EVA | |
| rs3408089514 | 1947 | R>W | No | EVA | |
| rs3389542044 | 2014 | V>A | No | EVA | |
| rs3389445367 | 2022 | L>F | No | EVA | |
| rs252193461 | 2023 | I>V | No | EVA |
No associated diseases with Q69ZN7
21 regional properties for Q69ZN7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1 - 101 | IPR000008-1 |
| domain | C2 domain | 183 - 300 | IPR000008-2 |
| domain | C2 domain | 339 - 475 | IPR000008-3 |
| domain | C2 domain | 1110 - 1238 | IPR000008-4 |
| domain | C2 domain | 1269 - 1397 | IPR000008-5 |
| domain | C2 domain | 1523 - 1641 | IPR000008-6 |
| domain | C2 domain | 1759 - 1907 | IPR000008-7 |
| domain | Peroxin/Ferlin domain | 843 - 901 | IPR006614-1 |
| domain | Peroxin/Ferlin domain | 914 - 970 | IPR006614-2 |
| domain | Peroxin/Ferlin domain | 979 - 1017 | IPR006614-3 |
| domain | Peroxin/Ferlin domain | 1037 - 1070 | IPR006614-4 |
| domain | Ferlin A-domain | 663 - 728 | IPR012560 |
| domain | Ferlin B-domain | 755 - 829 | IPR012561 |
| domain | FerIin domain | 282 - 353 | IPR012968 |
| domain | Ferlin, C-terminal domain | 1946 - 2043 | IPR032362 |
| domain | Ferlin, second C2 domain | 196 - 305 | IPR037720 |
| domain | Ferlin, third C2 domain | 359 - 522 | IPR037722 |
| domain | Ferlin, fourth C2 domain | 1126 - 1259 | IPR037723 |
| domain | Ferlin, fifth C2 domain | 1541 - 1664 | IPR037724 |
| domain | Ferlin, sixth C2 domain | 1777 - 1908 | IPR037725 |
| domain | Ferlin, first C2 domain | 5 - 136 | IPR037726 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to heat | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| glycerol metabolic process | The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. |
| membrane fusion | The membrane organization process that joins two lipid bilayers to form a single membrane. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
| myoblast fusion | A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| plasma membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. |
| plasma membrane repair | The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress. |
| regulation of vascular endothelial growth factor receptor signaling pathway | Any process that modulates the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity. |
| T-tubule organization | A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of the T-tubule. A T-tubule is an invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NZM1 | MYOF | Myoferlin | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRVIVESAT | NIPKTKFGKP | DPIVSVIFKD | EKKKTKKVDN | ELNPVWNEIL | EFDLRGIPLD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSSSLVIVVK | DFETIGQNKL | IGTATVSLKD | LIGDQNRSLP | YKQTSLLNEK | GQDTGATIDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VIGYTPPSAP | HPNDPSGTSV | PGMGEEEEED | QGDEDRVDGI | VRGPGPKGPS | GTVSEAQLAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RITKGKSSRR | MLSNKPQDFQ | IRVRVIEGRQ | LCGNNIRPVV | KVHICGQTHR | TRIKRGNNPF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FDELFFYNVH | ITPSELMDEI | ISIRVYNSHS | LRADCLMGEF | KIDVGFVYDE | PGHAVMRKWL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLNDPEDTSS | GAKGYMKVSM | FVLGTGDEPP | PEKRDRDNDS | DDVESNLLLP | AGIALRWVTF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MLKIYRAEDI | PQMDDAFSQT | VKEIFGGNAD | KKNLVDPFVE | VSFAGKKVCT | NIIERNANPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WNQVVNLQIK | FPSMCEKIKL | TVYDWDRLTK | NDVVGTTYLY | LSKIAASGGE | VEATTGETEV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GFVPTFGPCY | LNLYGSPREY | TGFPDPYDEL | NSGKGEGVAY | RGRIFVELNT | FLEKKPPEKK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LEPISSDDLL | VVEKYQRRRK | YSLSAVFHSA | TMLQDVGEAI | QFEVSIGNYG | NKFDATCKPL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ASTTQYSRAV | FDGNYYYYLP | WAHTKPVVTL | TSYWEDISHR | LDAVNTLLVM | AERLQSNIEA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VKSGIQGKIP | ANQLAEVWLK | LIDEVIEDTR | YTLPVTEGKA | NVTVLDTQIR | KLRSRFLSQI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HEAALRMRSE | ATDVKSTLLE | IEEWLDKLMQ | LTEEPQNSMP | DIIIWMIRGE | KRLAYARIPA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HQVLYSTSGG | NASGKYCGKT | QTILLKYPQE | KTNGPKVPVE | LRVNIWLGLS | AVEKKFNSFA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EGTFTVFAEM | YENQALVFGK | WGTSGLVGRH | KFSDVTGKIK | LKREFFLPPK | GWEWEGDWVV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DPERSLLTEA | DAGHTEFTDE | VYQNENRYPG | GEWKQAEDTY | TDANGDKAAS | PSEMTCPPGW |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EWEDDAWIYD | INRAVDEKGW | EYGITIPPDN | KPKSWVAAEK | MYHTHRRRRL | VRKRKKDLTQ |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TASSTARAME | ELEDREGWEY | ASLIGWKFHW | KQRSSDTFRR | RRWRRKMAPS | ETHGAAAIFK |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LEGALGADTT | EDGEEKGPEK | QKHSATTVFG | ANTPIVSCNF | DRVYIYHLRC | YIYQARNLMA |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LDKDSFSDPY | AHVSFLHRSK | TTEIIHSTLN | PTWDQTIIFD | EVEIFGEPQT | VLQNPPNVTI |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ELFDNDQVGK | DEFLGRSICS | PLVKLNSETD | ITPKLLWHPV | MNGDKACGDV | LVTAELILRN |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| KDGSNLPILP | SQRAPNLYMV | PQGIRPVVQL | TAIEILAWGL | RNMKNYQMAS | VTSPSLVVEC |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| GGERVESVVI | KSLKKTPNFP | SSVLFMKVFL | PKEELYMPPL | VIKVIDHRQF | GRKPVVGQCT |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| IDHLDRFRCD | PYAGKEDIVP | QLKASLMSAP | PCREVVIEIE | DTKPLLASKL | SEKEEEIVDW |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| WSKFYASSGE | HEKCGQYIQK | GYSKLKIYDC | ELEDVADFEG | LTDFSDTFKL | YRGKSDENED |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| PSVVGEFKGS | FRIYPLPDDP | SVPAPPRQFR | ELPDSVPQEC | TVRIYIVQGL | QLQPQDNNGL |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| CDPYIKITLG | KKVIEDRDHY | IPNTLNPVFG | RMYELSCYLP | QEKDLKISVY | DYDTFTRDEK |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| VGETTIDLEN | RFLSRFGSHC | GIPEQYCVSG | VNTWRDQLRP | TQLLQNVARF | KGFPPPVLSE |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| DGSRIRYGGR | DYHLDEFEAN | KILHQHLGAP | EERLALHILR | TQGLVPEHVE | TRTLHSTFQP |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| NISQGKLQMW | VDVFPKSLGP | PGPPFNITPR | KAKKYYLRVI | IWNTKDVILD | EKSITGEDMS |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| DIYVKGWISG | SEENKQKTDV | HYRSLDGEGN | FNWRFVFPFD | YLPAEQLCIV | AKKEHFWSID |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| QTEFRVPPRL | IIQIWDNDKF | SLDDYLGFLE | LDLHRTIIPA | KTSEKCSLDM | IPDLKAMDPL |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| KAKTASLFEQ | RSMKGWWPCY | ADKDGTRVMA | GKVEMTLEVL | NEREADERPA | GKGRSEPNMN |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| PKLDPPNRPE | TSFLWFTNPC | KTMRFIVWRR | FKWVIIGLLL | LLILLLFVAV | LLYSLPNYLS |
| MKIVRPNA |