O75379
Gene name |
VAMP4 |
Protein name |
Vesicle-associated membrane protein 4 |
Names |
VAMP-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8674 |
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 O75379
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75379-F1 | Predicted | AlphaFoldDB |
105 variants for O75379
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs781610287 CA1244498 |
2 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343720845 rs1234972291 |
6 | K>* | No |
ClinGen gnomAD |
|
|
CA343720844 rs1183080083 |
6 | K>T | No |
ClinGen gnomAD |
|
|
CA1244497 rs535997142 |
7 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343720838 rs535997142 |
7 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751766048 CA1244496 |
7 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766286990 CA1244495 |
10 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA343720802 rs1476049478 |
12 | D>G | No |
ClinGen TOPMed |
|
|
rs1476049478 CA343720801 |
12 | D>V | No |
ClinGen TOPMed |
|
|
CA1244493 rs567836066 |
14 | V>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs145814595 CA1244492 |
15 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 17 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201528503 CA1244490 |
22 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201528503 CA1244489 |
22 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM278067 rs1242626137 CA343717684 |
23 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA343717678 rs1201934317 |
24 | N>S | No |
ClinGen gnomAD |
|
|
CA1244479 rs781416958 |
28 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244478 rs771383257 |
29 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32671428 rs771383257 |
29 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32671420 rs199778923 |
31 | D>E | No |
ClinGen 1000Genomes |
|
|
CA343717629 rs1417131393 |
31 | D>G | No |
ClinGen TOPMed |
|
|
rs1205542475 CA343717617 |
33 | E>K | No |
ClinGen gnomAD |
|
|
CA1244477 rs747257774 |
35 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs778190208 CA1244476 |
36 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs771441555 CA32665911 |
40 | G>V | No |
ClinGen TOPMed |
|
|
CA32665907 rs955936667 |
41 | P>L | No |
ClinGen Ensembl |
|
|
rs1558109516 CA343717058 |
41 | P>S | No |
ClinGen Ensembl |
|
|
rs141906655 CA1244461 |
42 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343717015 rs1469548304 |
44 | P>S | No |
ClinGen TOPMed |
|
|
CA1244460 rs759993177 |
48 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343716965 rs1365548408 |
49 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777230369 CA1244459 |
52 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244458 rs145867825 |
54 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761249966 CA1244435 |
55 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1163600004 CA343715897 |
59 | Q>R | No |
ClinGen TOPMed |
|
|
CA343715834 rs1364905725 |
62 | E>A | No |
ClinGen TOPMed |
|
|
rs748346948 CA1244432 |
64 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297653243 CA343715753 |
66 | V>D | No |
ClinGen gnomAD |
|
|
rs774580642 CA1244431 |
67 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA32661473 rs951628126 |
67 | M>V | No |
ClinGen TOPMed |
|
|
CA32661471 rs1052670 |
68 | Q>P | No |
ClinGen Ensembl |
|
|
CA1244430 rs768735104 |
70 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 71 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343715628 rs1337571964 |
73 | K>E | No |
ClinGen gnomAD |
|
|
CA32661435 rs200788972 |
78 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 78 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277997742 CA343715438 |
82 | D>G | No |
ClinGen TOPMed |
|
|
rs1469491171 CA343715448 |
82 | D>N | No |
ClinGen gnomAD |
|
|
CA1244429 rs183763963 |
83 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343715341 rs368840676 |
87 | K>* | No |
ClinGen ESP TOPMed |
|
|
rs368840676 CA32661395 |
87 | K>E | No |
ClinGen ESP TOPMed |
|
|
rs368840676 CA32661400 |
87 | K>Q | No |
ClinGen ESP TOPMed |
|
|
rs756061887 CA1244427 |
87 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919432061 CA32661385 |
88 | S>* | No |
ClinGen Ensembl |
|
|
rs935768514 CA32660655 |
91 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA32660665 rs986278032 |
91 | L>V | No |
ClinGen Ensembl |
|
|
CA343715110 rs1333063136 |
92 | S>L | No |
ClinGen gnomAD |
|
|
CA1244408 rs745830452 |
92 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745830452 CA1244407 |
92 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112184910 CA32660605 |
94 | N>D | No |
ClinGen Ensembl |
|
|
CA32660588 rs902902950 |
96 | T>I | No |
ClinGen TOPMed |
|
|
rs746888610 CA343715029 |
97 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1244404 rs746888610 |
97 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1244403 rs777416517 |
99 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1244402 rs758136623 |
101 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244401 rs752329350 |
102 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1021254914 CA32660528 |
102 | S>Y | No |
ClinGen TOPMed |
|
|
CA32660522 rs758825644 |
103 | K>I | No |
ClinGen Ensembl |
|
| TCGA novel | 105 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM172094 CA32660493 rs577477919 |
106 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1244399 rs754485864 |
106 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572239668 CA343714830 |
108 | Q>* | No |
ClinGen Ensembl |
|
|
CA1244398 rs149851036 |
108 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244395 rs751971096 |
109 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244396 rs762218411 |
109 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1244394 rs764302072 |
110 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs375741911 CA32660451 |
112 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA1244393 rs373661099 |
112 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343714714 rs1490975865 |
113 | G>A | No |
ClinGen gnomAD |
|
|
CA32660436 rs899770691 |
114 | C>Y | No |
ClinGen TOPMed |
|
|
CA1244392 rs775643184 |
115 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244382 rs778754518 |
117 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1244381 rs377614084 |
118 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753450848 CA1244380 |
118 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343712973 rs1488893398 |
120 | M>I | No |
ClinGen Ensembl |
|
|
CA1244379 rs779377304 |
120 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs757791904 CA1244378 |
123 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs751972487 CA1244377 |
124 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764468160 CA1244376 |
125 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1457479692 CA343712942 |
126 | I>V | No |
ClinGen gnomAD |
|
|
CA343712934 rs1405945697 |
127 | L>F | No |
ClinGen gnomAD |
|
|
CA1244373 rs765510273 |
130 | V>G | No |
ClinGen ExAC |
|
|
rs759741968 CA1244372 |
133 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759741968 CA343712898 |
133 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32656746 rs147472171 |
134 | L>H | No |
ClinGen ESP |
|
|
CA1244362 rs768476809 |
134 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748829095 CA1244361 |
135 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779649774 CA1244360 |
136 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755533471 CA1244359 |
137 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1383124387 CA343712784 |
140 | R>C | No |
ClinGen gnomAD |
|
|
CA1244358 rs745362209 |
140 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343712768 rs1572236317 |
141 | T>I | No |
ClinGen Ensembl |
|
|
CA343712760 rs1413177349 |
142 | T>L | No |
ClinGen gnomAD |
No associated diseases with O75379
1 regional properties for O75379
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Peptidyl-tRNA hydrolase, conserved site | 107 - 117 | IPR018171 |
Functions
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| clathrin-coated endocytic vesicle membrane | The lipid bilayer surrounding a clathrin-coated endocytic vesicle. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| SNARE complex | A protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. One well-characterized example is the neuronal SNARE complex formed of synaptobrevin 2, syntaxin 1a, and SNAP-25. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
| transport vesicle | Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytic recycling | The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. |
| Golgi ribbon formation | The formation of a continuous ribbon of interconnected Golgi stacks of flat cisternae. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| regulation of synaptic vesicle endocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle endocytosis. |
| SNARE complex assembly | The aggregation, arrangement and bonding together of a set of components to form a SNARE complex, a protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. |
| synaptic vesicle to endosome fusion | Fusion of a synaptic vesicle with an endosome. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPPKFKRHLN | DDDVTGSVKS | ERRNLLEDDS | DEEEDFFLRG | PSGPRFGPRN | DKIKHVQNQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEVIDVMQEN | ITKVIERGER | LDELQDKSES | LSDNATAFSN | RSKQLRRQMW | WRGCKIKAIM |
| 130 | 140 | ||||
| ALVAAILLLV | IIILIVMKYR | T |