Q3ULF4
PR
Gene name |
Spg7 |
Protein name |
Paraplegin |
Names |
Spastic paraplegia 7 protein |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:234847 |
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 Q3ULF4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q3ULF4-F1 | Predicted | AlphaFoldDB |
33 variants for Q3ULF4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs234242929 | 13 | P>H | No | EVA | |
| rs32889720 | 18 | R>Q | No | EVA | |
| rs259624785 | 18 | R>W | No | EVA | |
| rs243350472 | 34 | S>L | No | EVA | |
| rs237717788 | 39 | A>V | No | EVA | |
| rs3388986356 | 257 | A>S | No | EVA | |
| rs3388968691 | 273 | R>K | No | EVA | |
| rs3389020506 | 274 | L>Q | No | EVA | |
| rs3388993633 | 275 | A>T | No | EVA | |
| rs3389005644 | 277 | M>K | No | EVA | |
| rs32992257 | 279 | G>R | No | EVA | |
| rs3389016050 | 285 | S>G | No | EVA | |
| rs254452839 | 297 | I>V | No | EVA | |
| rs3389016642 | 355 | K>N | No | EVA | |
| rs3389025124 | 394 | F>L | No | EVA | |
| rs3389018078 | 399 | A>G | No | EVA | |
| rs3389016094 | 417 | R>H | No | EVA | |
| rs3389016701 | 426 | N>Y | No | EVA | |
| rs37612025 | 453 | A>P | No | EVA | |
| rs3389021238 | 456 | N>I | No | EVA | |
| rs3389012291 | 504 | F>L | No | EVA | |
| rs3388968651 | 564 | S>P | No | EVA | |
| rs3388993567 | 574 | H>R | No | EVA | |
| rs3389024246 | 591 | V>M | No | EVA | |
| rs3389016692 | 647 | A>G | No | EVA | |
| rs3388968599 | 671 | I>N | No | EVA | |
| rs37200953 | 679 | A>T | No | EVA | |
| rs3388993608 | 704 | K>M | No | EVA | |
| rs3388986318 | 711 | Y>F | No | EVA | |
| rs3388993606 | 744 | E>D | No | EVA | |
| rs3389011772 | 757 | M>T | No | EVA | |
| rs38060306 | 761 | Q>L | No | EVA | |
| rs13472131 | 781 | P>L | No | EVA |
No associated diseases with Q3ULF4
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon cytoplasm | Any cytoplasm that is part of a axon. |
| m-AAA complex | Protease complex of the mitochondrial inner membrane that is involved in mitochondrial protein turnover and in processing of proteins imported into mitochondria. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial permeability transition pore complex | A protein complex that connects the inner and outer membranes of animal mitochondria and acts as a pore that can open transiently to allow free diffusion of solutes between the mitochondrial matrix and the cytosol. The pore complex is formed of the voltage-dependent anion channel (VDAC), the adenine nucleotide translocase (ANT) and cyclophilin-D (CyP-D). |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
5 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: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATP-dependent peptidase activity | Catalysis of the hydrolysis of peptide bonds, driven by ATP hydrolysis. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| zinc ion binding | Binding to a zinc ion (Zn). |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| anterograde axonal transport | The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| mitochondrial outer membrane permeabilization involved in programmed cell death | The process by which the mitochondrial outer membrane becomes permeable to the passing of proteins and other molecules from the intermembrane space to the cytosol as part of a programmed cell death process. |
| mitochondrial protein processing | The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. |
| mitochondrion organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of cell adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. |
| regulation of mitochondrial membrane permeability | Any process that modulates the frequency, rate or extent of the passage or uptake of molecules by the mitochondrial membrane. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KJI7 | AFG3L2 | AFG3-like protein 2 | Bos taurus (Bovine) | PR |
| Q9Y4W6 | AFG3L2 | AFG3-like protein 2 | Homo sapiens (Human) | PR |
| Q9UQ90 | SPG7 | Paraplegin | Homo sapiens (Human) | PR |
| Q7TT47 | Spg7 | Paraplegin | Rattus norvegicus (Rat) | PR |
| Q8W585 | FTSH8 | ATP-dependent zinc metalloprotease FTSH 8, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAALLLLRG | LRPGPEPRPR | RLWGLLSGRG | PGLSSGAGAR | RPYAARGTPV | GPAAAGGHAP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QSLLLRILTP | SFEGISGLLL | KQHIVPNAVR | LWPLSGSTLY | FNTSRMKQKN | KDNDKPKGKT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PEDDEEEKRR | KEREDQMYRE | RLRTLFIIAL | VMSLLNSLST | SGGSISWADF | VNEMLAKGEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QRVQVVPESD | VVEVYLHPGA | VVFGRPRLAL | MYRMQVANID | KFEEKLRAAE | DELNIESKDR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IPVSYKRTGF | FGNALYALGM | TAVGLAILWY | VFRLAGMTGR | EGGFSAFNQL | KMARFTIVDG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KTGKGVSFQD | VAGMHEAKLE | VREFVDYLKS | PERFLQLGAK | VPKGALLLGP | PGCGKTLLAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AVATEAQVPF | LAMAGPEFVE | VIGGLGAARV | RSLFKEARAR | APCIVYIDEI | DAVGKKRSTS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MSGFSNTEEE | QTLNQLLVEM | DGMGTTDHVI | VLASTNRADV | LDNALMRPGR | LDRHVFIDLP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLQERREIFE | QHLKGLKLTQ | PSSFYSQRLA | ELTPGFSGAD | IANICNEAAL | HAAREGHTSV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HTFNFEYAVE | RVIAGTAKKS | KILSKEEQRV | VAFHESGHAL | VGWLLEHTEA | VMKVSIAPRT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NAALGFSQML | PRDQYLFTKE | QLFERMCMAL | GGRAAEAISF | SRVTSGAQDD | LRKVTRIAYS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MVKQFGMAPS | IGPVSFPEAQ | EGLMGIGRRP | FSQGLQQMMD | HEAKLLVAKA | YRHTEKVLLD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NLDKLQALAN | ALLEKEVINY | EDIEALIGPP | PHGPKKMIAP | QKWIDAEKER | QASGEEEAPA |
| P |