O49377
Gene name |
VAMP711 (VAMP7C, At4g32150, F10N7.40) |
Protein name |
Vesicle-associated membrane protein 711 |
Names |
AtVAMP711 , v-SNARE synaptobrevin 7C , AtVAMP7C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
ath:AT4G32150 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
126-186 (v-SNARE coiled-coil homology) |
Relief mechanism |
|
Assay |
|
Accessory elements
No accessory elements
References
- Wen W et al. (2010) "Lipid-Induced conformational switch controls fusion activity of longin domain SNARE Ykt6", Molecular cell, 37, 383-95
- Martinez-Arca S et al. (2003) "A dual mechanism controlling the localization and function of exocytic v-SNAREs", Proceedings of the National Academy of Sciences of the United States of America, 100, 9011-6
- Gonzalez LC Jr et al. (2001) "A novel snare N-terminal domain revealed by the crystal structure of Sec22b", The Journal of biological chemistry, 276, 24203-11
- Mancias JD et al. (2007) "The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope", Molecular cell, 26, 403-14
Autoinhibited structure
Activated structure
1 structures for O49377
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O49377-F1 | Predicted | AlphaFoldDB |
7 variants for O49377
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| tmp_4_15527597_T_A | 19 | T>S | No | 1000Genomes | |
| ENSVATH02950133 | 38 | G>E | No | 1000Genomes | |
| ENSVATH12345742 | 40 | N>D | No | 1000Genomes | |
| ENSVATH12345737 | 90 | T>A | No | 1000Genomes | |
| ENSVATH06811100 | 112 | S>N | No | 1000Genomes | |
| tmp_4_15527013_C_T | 126 | R>K | No | 1000Genomes | |
| ENSVATH14324568 | 178 | R>H | No | 1000Genomes |
1 associated diseases with O49377
[MIM: 224690]: Meier-Gorlin syndrome 1 (MGORS1)
A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O49377
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sirtuin family, catalytic core domain | 118 - 380 | IPR026590 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| plant-type vacuole | A closed structure that is completely surrounded by a unit membrane, contains liquid, and retains the same shape regardless of cell cycle phase. An example of this structure is found in Arabidopsis thaliana. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| vacuolar membrane | The lipid bilayer surrounding the vacuole and separating its contents from the cytoplasm of the cell. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| membrane fusion | The membrane organization process that joins two lipid bilayers to form a single membrane. |
| 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. |
| response to abscisic acid | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abscisic acid stimulus. |
| response to salt stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment. |
| stomatal movement | The process of opening or closing of stomata, which is directly related to the stomatal conductance (measuring rate of passage of either water vapor or carbon dioxide (CO2) through stomata). |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12255 | NYV1 | Vacuolar v-SNARE NYV1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q17QI5 | VAMP7 | Vesicle-associated membrane protein 7 | Bos taurus (Bovine) | SS |
| Q5ZL74 | VAMP7 | Vesicle-associated membrane protein 7 | Gallus gallus (Chicken) | SS |
| P51809 | VAMP7 | Vesicle-associated membrane protein 7 | Homo sapiens (Human) | EV |
| P70280 | Vamp7 | Vesicle-associated membrane protein 7 | Mus musculus (Mouse) | SS |
| Q9JHW5 | Vamp7 | Vesicle-associated membrane protein 7 | Rattus norvegicus (Rat) | SS |
| Q9FMR5 | VAMP714 | Vesicle-associated membrane protein 714 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LFP1 | VAMP713 | Vesicle-associated membrane protein 713 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9M376 | VAMP727 | Vesicle-associated membrane protein 727 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9SIQ9 | VAMP712 | Vesicle-associated membrane protein 712 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHYPTRLKT | RKTYSWVGRP | LLDRKLHYQT | YREMCVKTEG | CSTEIHIQIG | QFVLIEGDDD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ENPYVAKLLE | LFEDDSDPPP | KKRARVQWFV | RFCEVPACKR | HLLGRKPGAQ | EIFWYDYPAC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DSNINAETII | GLVRVIPLAP | KDVVPTNLKN | EKTLFVKLSW | NEKKFRPLSS | ELFAELNKPQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ESAAKCQKPV | RAKSKSAESP | SWTPAEHVAK | RIESRHSASK | SRQTPTHPLT | PRARKRLELG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLGNPQMSQQ | TSCASLDSPG | RIKRKVAFSE | ITSPSKRSQP | DKLQTLSPAL | KAPEKTRETG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSYTEDDKKA | SPEHRIILRT | RIAASKTIDI | REERTLTPIS | GGQRSSVVPS | VILKPENIKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RDAKEAKAQN | EATSTPHRIR | RKSSVLTMNR | IRQQLRFLGN | SKSDQEEKEI | LPAAEISDSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SDEEEASTPP | LPRRAPRTVS | RNLRSSLKSS | LHTLTKVPKK | SLKPRTPRCA | APQIRSRSLA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AQEPASVLEE | ARLRLHVSAV | PESLPCREQE | FQDIYNFVES | KLLDHTGGCM | YISGVPGTGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TATVHEVIRC | LQQAAQANDV | PPFQYIEVNG | MKLTEPHQVY | VQILQKLTGQ | KATANHAAEL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LAKQFCTRGS | PQETTVLLVD | ELDLLWTHKQ | DIMYNLFDWP | THKEARLVVL | AIANTMDLPE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RIMMNRVSSR | LGLTRMCFQP | YTYSQLQQIL | RSRLKHLKAF | EDDAIQLVAR | KVAALSGDAR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RCLDICRRAT | EICEFSQQKP | DSPGLVTIAH | SMEAVDEMFS | SSYITAIKNS | SVLEQSFLRA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ILAEFRRSGL | EEATFQQIYS | QHVALCRMEG | LPYPTMSETM | AVCSHLGSCR | LLLVEPSRND |
| 850 | 860 | ||||
| LLLRVRLNVS | QDDVLYALKD | E |