Q8R5A3
Gene name |
Apbb1ip (Prel1) |
Protein name |
Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
Names |
APBB1-interacting protein 1 , Proline-rich EVH1 ligand 1 , PREL-1 , Proline-rich protein 48 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:54519 |
EC number |
|
Protein Class |
GROWTH FACTOR RECEPTOR-BOUND PROTEIN (PTHR11243) |
Descriptions
RIAM is a multidomain scaffold protein that is regulated by recruitment from the cytosol to the plasma membrane. RIAM is autoinhibited by an intramolecular interaction between the inhibitory segment (IN) region and the RAS-association (RA) region, which inhibits its association with RAP1. Phosphorylation of Tyr45 in the IN segment by focal adhesion kinase (FAK) releases this autoinhibition, facilitating translocation to the plasma membrane and enhancing integrin-mediated cell adhesion.
Autoinhibitory domains (AIDs)
Target domain |
179-266 (RAS-association (RA) region) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
31 variants for Q8R5A3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388526397 | 71 | L>M | No | EVA | |
| rs27140001 | 81 | R>K | No | EVA | |
| rs215594610 | 95 | R>H | No | EVA | |
| rs241842089 | 98 | L>F | No | EVA | |
| rs260709083 | 104 | G>D | No | EVA | |
| rs3412972306 | 120 | D>V | No | EVA | |
| rs242054098 | 127 | A>D | No | EVA | |
| rs3540187453 | 161 | A>T | No | EVA | |
| rs3388530311 | 167 | K>E | No | EVA | |
| rs3388530334 | 214 | T>I | No | EVA | |
| rs3388532782 | 216 | C>Y | No | EVA | |
| rs3388529927 | 217 | D>E | No | EVA | |
| rs3388527429 | 384 | C>Y | No | EVA | |
| rs3388526415 | 391 | Q>R | No | EVA | |
| rs3388530329 | 405 | D>N | No | EVA | |
| rs254847658 | 461 | S>P | No | EVA | |
| rs3388530888 | 473 | G>A | No | EVA | |
| rs3388533348 | 499 | E>G | No | EVA | |
| rs3388530270 | 521 | L>M | No | EVA | |
| rs258470808 | 528 | V>I | No | EVA | |
| rs1133342649 | 530 | R>L | No | EVA | |
| rs3388530928 | 539 | A>D | No | EVA | |
| rs228026487 | 549 | T>A | No | EVA | |
| rs228026487 | 549 | T>P | No | EVA | |
| rs254367825 | 549 | T>S | No | EVA | |
| rs3540175707 | 554 | H>P | No | EVA | |
| rs3388534267 | 555 | P>L | No | EVA | |
| rs3388532465 | 556 | P>Q | No | EVA | |
| rs3388533409 | 565 | P>S | No | EVA | |
| rs3391372460 | 633 | V>A | No | EVA | |
| rs254912945 | 669 | I>M | No | EVA |
No associated diseases with Q8R5A3
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11243 | GROWTH FACTOR RECEPTOR-BOUND PROTEIN |
| PANTHER Subfamily | PTHR11243:SF14 | AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING FAMILY B MEMBER 1-INTERACTING PROTEIN |
| PANTHER Protein Class | scaffold/adaptor protein | |
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| T cell receptor complex | A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of cell adhesion | Any process that activates or increases the frequency, rate or extent of cell adhesion. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell | The change in morphology and behavior of a mature or immature T cell resulting from exposure to an antigen for which its T cell receptor is specific bound to an MHC molecule on an antigen presenting cell, leading to the initiation or perpetuation of an immune response. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZL23 | APBB1IP | Amyloid beta A4 precursor protein-binding family B member 1-interacting protein | Gallus gallus (Chicken) | SS |
| Q7Z5R6 | APBB1IP | Amyloid beta A4 precursor protein-binding family B member 1-interacting protein | Homo sapiens (Human) | SS |
| Q6PFT9 | apbb1ip | Amyloid beta A4 precursor protein-binding family B member 1-interacting protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGESNEDIDQ | MFSTLLGEMD | LLTQSLGVDT | LPPPDPNPPR | EEFNYTVGFK | DLNESLNALE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DQDLDALMAD | LVADISEAEQ | RTIQAQKESS | QNQDRFALLR | ASDGQGTASG | GYGASAAAID |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSHHEEALPP | PPVEPMLDLL | PPPPPPPPPE | LLSKEEEEAK | AKADKIKLAL | EKLKEAKVKK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVVKVHMDDS | STKSLMVDER | QLARDVLDNL | FEKTHCDCNV | DWCLYEIYPE | LQIERVFEDH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ENVVEVLSDW | TRDTENKVLF | LEKEERYAVF | KNPQNFYLDN | KGKKENKETN | EKMNAKNKEY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLEESFCGTS | IIVPELEGAL | YLKEDGKKSW | KRRYFLLRAS | GIYYVPKGKT | KTSRDLACFI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QFENVNIYYG | IQCKMKYKAP | TDHCFVLKHP | QIQKESQYIK | YLCCDDARTL | SQWVMGIRIA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KYGKTLYDNY | QRAVARAGLA | SRWTNLGTVG | TPMPAQPSTV | SSGLKTGTSQ | PNGQMPQAIP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SAGPPLQEAQ | TQIETTKDEK | QGLGNHSPGA | TRENHRPKSS | LPPPPPPVRR | SSDTCGSPAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PSKVKGPGTC | TFPHPPENFL | PPPPPPPPEE | DNSGLLPPPP | PPPYLEEPPD | FVPPPPPPAA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VEDSALPPPP | PPPPCLSQEI | TKSSPLPPKK | PLVPPKRQEN | QGLPGAPGNS | EQDFMSDLMK |
| ALQKKRGNIP |