A6H6A9
Gene name |
Rabgap1l |
Protein name |
Rab GTPase-activating protein 1-like |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:29809 |
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 A6H6A9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6H6A9-F1 | Predicted | AlphaFoldDB |
40 variants for A6H6A9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388512911 | 52 | D>N | No | EVA | |
| rs31322016 | 54 | Q>P | No | EVA | |
| rs3388507610 | 55 | L>S | No | EVA | |
| rs3388508171 | 64 | R>K | No | EVA | |
| rs3388507055 | 65 | D>G | No | EVA | |
| rs31322017 | 72 | G>S | No | EVA | |
| rs3388509402 | 75 | V>D | No | EVA | |
| rs265457793 | 75 | V>I | No | EVA | |
| rs254614495 | 81 | S>N | No | EVA | |
| rs3388509367 | 89 | G>R | No | EVA | |
| rs3388511146 | 93 | A>T | No | EVA | |
| rs48972602 | 97 | T>N | No | EVA | |
| rs3390891311 | 120 | P>S | No | EVA | |
| rs3390881543 | 121 | S>G | No | EVA | |
| rs3390877335 | 159 | R>K | No | EVA | |
| rs231872692 | 160 | A>T | No | EVA | |
| rs3390890472 | 301 | F>* | No | EVA | |
| rs3388511411 | 381 | E>A | No | EVA | |
| rs3388512889 | 381 | E>D | No | EVA | |
| rs3388512979 | 387 | K>R | No | EVA | |
| rs3388509806 | 402 | V>SDG* | No | EVA | |
| rs3388511210 | 421 | E>K | No | EVA | |
| rs3388509820 | 426 | F>L | No | EVA | |
| rs3388508537 | 427 | S>N | No | EVA | |
| rs3388507021 | 434 | T>I | No | EVA | |
| rs3388511818 | 448 | S>N | No | EVA | |
| rs3388511231 | 450 | A>* | No | EVA | |
| rs3388511409 | 450 | A>D | No | EVA | |
| rs3388509299 | 483 | E>D | No | EVA | |
| rs3390837575 | 503 | K>T | No | EVA | |
| rs3388508194 | 609 | A>V | No | EVA | |
| rs3388510870 | 639 | A>T | No | EVA | |
| rs3388510760 | 698 | Q>* | No | EVA | |
| rs3388506081 | 702 | T>I | No | EVA | |
| rs3388507007 | 718 | D>G | No | EVA | |
| rs3388509473 | 722 | C>S | No | EVA | |
| rs3388510772 | 735 | L>P | No | EVA | |
| rs3388506067 | 761 | K>* | No | EVA | |
| rs3388508073 | 763 | Y>C | No | EVA | |
| rs3388506098 | 798 | E>V | No | EVA |
No associated diseases with A6H6A9
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| small GTPase binding | Binding to a small monomeric GTPase. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| megakaryocyte development | The process whose specific outcome is the progression of a megakaryocyte cell over time, from its formation to the mature structure. Megakaryocyte development does not include the steps involved in committing a cell to a megakaryocyte fate. A megakaryocyte is a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow. |
| 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 protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q5R372 | RABGAP1L | Rab GTPase-activating protein 1-like | Homo sapiens (Human) | PR |
| Q80XC3 | Usp6nl | USP6 N-terminal-like protein | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVRASFQKV | SGSSDSVATL | NSEEFVLVSQ | HTDATSIKDD | GKPQLKIASN | GDEQLEKAME |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EILRDSEKGQ | SGLPVDCQGS | SEISDCPFGD | VPASQTTKPP | LQLILDPSNT | EISTPRPSSP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SRFPEEDSVL | FNKLTYLGCM | KVSSPRSEVE | ALRAMATMRA | SSQYPFAVTL | YVPNVPEGSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RIIDQSSNVE | IASFPIYKVL | FCARGHDGTA | ESNCFAFTES | SHGSEEFQIH | VFSCEIKEAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SRILYSFCTA | FKRSSRQVSD | VKDSVIPTPD | SDVFTFSVSL | EVKEDDGKGN | FSPVPKDRDK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FYFKIKQGIE | KKVVITVQQL | SNKELAIERC | FGMLLSPGRN | VKNSDMHLLD | MESMGKSYDG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RAYVITGMWN | PNAPIFLALN | EETPKDKRVY | MTVAVDMVVT | EVVEPVRFLL | ETVVRVYPAN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ERFWYFSRKT | FTETFFMRLK | QSEGKGHSSA | GDAIYEVVSL | QRESDKEEPI | TPTSAGGPMS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PQEDEAEEES | DNELSSGTGD | VSKDCPEKIL | YSWGELLGRW | HNNLGGRPKG | LFTLVKSGVP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EALRAEVWQL | LAGCHDNQEM | LDKYRILITK | DSAQESVITR | DIHRTFPAHD | YFKDTGGDGQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ESLYKICKAY | SVFDEDIGYC | QGQSFLAAVL | LLHMPEEQAF | CVLVTIMYGY | KLRDLYRNNF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EDLHCKFYQL | EKLMQEQLPD | LYSHFCDLNL | EAHMYASQWF | LTLFTAKFPL | CMVFHIIDLL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LCEGLNIIFH | VALALLKTSK | EDLLQADFEG | ALKFFRVQLP | KRYRAEENAR | RLMEQACNIK |
| 790 | 800 | 810 | |||
| VPTKKLKKYE | KEYQAMRENQ | LQQEDPMDRY | KFVYL |