Q1AAU6
SS
Gene name |
Asap1 (Ddef1) |
Protein name |
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 |
Names |
130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein , ADP-ribosylation factor-directed GTPase-activating protein 1 , ARF GTPase-activating protein 1 , Development and differentiation-enhancing factor 1 , DEF-1 , Differentiation-enhancing factor 1 , PIP2-dependent ARF1 GAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
rno:314961 |
EC number |
|
Protein Class |
|
Descriptions
The translocation of Son of Sevenless 1 (SOS1) protein to the plasma membrane enables activation of membrane-bound Ras, which is a vital regulator of cell proliferation and differentiation. The autoinhibitory conformation of SOS1 consists of the histone domain, the Dbl homology (DH), the Pleckstrin homology (PH) domain, and PH-Rem helical linker. SOS is inactive by the DH-PH unit, which blocks allosteric Ras binding. In addition, the histone domain plays a dual role in occluding the allosteric site and in stabilizing the autoinhibitory conformation of the DH-PH unit. Autoinhibition of the catalytic domain of SOS is released by enhancing the density of PIP2 and the local concentration of Ras-GTP, consequently increasing the activity of SOS at the membrane.
Autoinhibitory domains (AIDs)
Target domain |
338-425 (PH domain);451-574 (Arf GAP domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q1AAU6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q1AAU6-F1 | Predicted | AlphaFoldDB |
No variants for Q1AAU6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| No variants for Q1AAU6 | |||||
1 associated diseases with Q1AAU6
[MIM: 616559]: Noonan syndrome 9 (NS9)
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q1AAU6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q1AAU6 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| podosome | An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
5 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. |
| metal ion binding | Binding to a metal ion. |
| phosphatidylinositol-3,4,5-trisphosphate binding | Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
6 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. |
| negative regulation of dendritic spine development | Any process that decreases the rate, frequency, or extent of dendritic spine development, the process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. |
| positive regulation of membrane tubulation | Any process that activates or increases the frequency, rate or extent of membrane tubulation. |
| positive regulation of podosome assembly | Any process that activates or increases the rate or extent of podosome assembly. |
| protein localization to cilium | A process in which a protein is transported to, or maintained in, a location within a cilium. |
| regulation of postsynapse organization | Any process that modulates the physical form of a postsynapse. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5PK26 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| O97902 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| A1Z7A6 | Asap | ArfGAP with SH3 domain, ANK repeat and PH domain-containing protein | Drosophila melanogaster (Fruit fly) | SS |
| Q15027 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| O43150 | ASAP2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Homo sapiens (Human) | SS |
| Q15057 | ACAP2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q8TDY4 | ASAP3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Homo sapiens (Human) | SS |
| Q9ULH1 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q8K2H4 | Acap1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q5U464 | Asap3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Mus musculus (Mouse) | SS |
| Q6ZQK5 | Acap2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | PR |
| Q7SIG6 | Asap2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q9QWY8 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q9C6C3 | AGD2 | ADP-ribosylation factor GTPase-activating protein AGD2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SMX5 | AGD4 | ADP-ribosylation factor GTPase-activating protein AGD4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQQAPQPYEF | FSEENSPKWR | GLLVSALRKV | QEQVHPTLSA | NEESLYYIEE | LIFQLLNKLC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MAQPRTVQDV | EERVQKTFPH | PIDKWAIADA | QSAIEKRKRR | NPLLLPVDKI | HPSLKEVLGY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVDYHVSLYI | VAVLEYISAD | ILKLAGNYVF | NIRHYEISQQ | DIKVSMCADK | VLMDMFDQDD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IGLVSLCEDE | PSSSGELNYY | DLVRTEIAEE | RQYLRELNMI | IKVFREAFLS | DRKLFKPSDI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKIFSNISDI | HELTVKLLGL | IEDTVEMTDE | SSPHPLAGSC | FEDLAEEQAF | DPYETLSQDI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSPEFHEHFN | KLMARPAVAL | HFQSIADGFK | EAVRYVLPRL | MLVPVYHCWH | YFELLKQLKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CSEEQEDREC | LNQAITALMN | LQGSMDRIYK | QYSPRRRPGD | PVCPFYSHQL | RSKHLAIKKM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NEIQKNIDGW | EGKDIGQCCN | EFIMEGPLTR | IGAKHERHIF | LFDGLMISCK | PNHGQTRLPG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YSSAEYRLKE | KFVMRKIQIC | DKEDTCEHKH | AFELVSKDEN | SIIFAAKSAE | EKNNWMAALI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SLHYRSTLDR | MLDSVLLKEE | NEQPLRLPSP | EVYRFVVKDS | EENIVFEDNL | QSRSGIPIIK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GGTVVKLIER | LTYHMYADPN | FVRTFLTTYR | SFCKPQELLS | LLIERFEIPE | PEPTDADKLA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IEKGEQPISA | DLKRFRKEYV | QPVQLRILNV | FRHWVEHHFY | DFERDLELLE | RLESFISSVR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GKAMKKWVES | IAKIIRRKKQ | AQANGVSHNI | TFESPPPPIE | WHISKPGQFE | TFDLMTLHPI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EIARQLTLLE | SDLYRKVQPS | ELVGSVWTKE | DKEINSPNLL | KMIRHTTNLT | LWFEKCIVEA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ENFEERVAVL | SRIIEILQVF | QDLNNFNGVL | EIVSAVNSVS | VYRLDHTFEA | LQERKRKILD |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EAVELSQDHF | KKYLVKLKSI | NPPCVPFFGI | YLTNILKTEE | GNNDFLKKKG | KDLINFSKRR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KVAEITGEIQ | QYQNQPYCLR | IEPDMRRFFE | NLNPMGSASE | KEFTDYLFNK | SLEIEPRNCK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| QPPRFPRKST | FSLKSPGIRP | NTGRHGSTSG | TLRGHPTPLE | REPCKISFSR | IAETELESTV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SAPTSPNTPS | TPPVSASSDL | SVFLDVDLNS | SCGSNSIFAP | VLLPHSKSFF | SSCGSLHKLS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| EEPLIPPPLP | PRKKFDHDAS | NSKGNMKSDD | DPPAIPPRQP | PPPKVKPRVP | VPTGAFDGPL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| HSPPPPPPRD | PLPDTPPPVP | LRPPEHFINC | PFNLQPPPLG | HLHRDSDWLR | DISTCPNSPS |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| TPPSTPSPRV | PRRCYVLSSS | QNNLAHPPAP | PVPPRQNSSP | HLPKLPPKTY | KRELSHPPLY |
| 1330 | |||||
| RLPLLENAET | PQ |