O75396
Gene name |
SEC22B (SEC22L1) |
Protein name |
Vesicle-trafficking protein SEC22b |
Names |
ER-Golgi SNARE of 24 kDa, ERS-24, ERS24, SEC22 vesicle-trafficking protein homolog B, SEC22 vesicle-trafficking protein-like 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9554 |
EC number |
|
Protein Class |
|
Descriptions
Autoinhibitory domains (AIDs)
Target domain |
134-194 (v-SNARE coiled-coil homology) |
Relief mechanism |
Others, PTM |
Assay |
|
Accessory elements
No accessory elements
References
- 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
- Wen W et al. (2010) "Lipid-Induced conformational switch controls fusion activity of longin domain SNARE Ykt6", Molecular cell, 37, 383-95
- 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
62 variants for O75396
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1049432 rs1553230214 |
2 | V>L | No |
ClinGen TOPMed |
|
|
rs1467156081 CA341870324 |
6 | M>T | No |
ClinGen TOPMed |
|
|
CA341870341 rs1553230212 |
6 | M>V | No |
ClinGen TOPMed |
|
|
CA341870234 rs1557896030 |
11 | A>V | No |
ClinGen Ensembl |
|
|
CA30420652 rs1553230203 |
13 | G>R | No |
ClinGen TOPMed |
|
|
CA1049447 rs1553230198 |
19 | S>P | No |
ClinGen TOPMed |
|
|
CA341869727 rs1456545058 |
28 | R>Q | No |
ClinGen TOPMed |
|
|
rs1237579617 CA341869731 |
28 | R>W | No |
ClinGen TOPMed |
|
|
rs1432943408 CA886300131 |
33 | Y>C | No |
ClinGen TOPMed |
|
|
rs1268709061 CA886300144 |
33 | Y>H | No |
ClinGen TOPMed |
|
|
CA886300129 rs1174338295 |
37 | A>T | No |
ClinGen TOPMed |
|
|
CA341869531 rs1375172255 |
41 | F>L | No |
ClinGen TOPMed |
|
|
CA341869509 rs1465757327 |
42 | R>Q | No |
ClinGen TOPMed |
|
|
rs1169536874 CA341869346 |
46 | E>D | No |
ClinGen TOPMed |
|
|
rs1397486673 CA341869066 |
57 | G>A | No |
ClinGen TOPMed |
|
|
rs1462623742 CA341869062 |
58 | A>T | No |
ClinGen TOPMed |
|
|
CA341869043 rs1366888187 |
59 | M>L | No |
ClinGen TOPMed |
|
|
CA341869044 rs1366888187 |
59 | M>V | No |
ClinGen TOPMed |
|
|
CA341868879 rs1557894136 |
63 | Y>D | No |
ClinGen Ensembl |
|
|
rs1193179602 CA341868860 |
64 | I>V | No |
ClinGen TOPMed |
|
|
CA341868828 rs1393504180 |
65 | I>T | No |
ClinGen TOPMed |
|
|
CA341868764 rs1168588771 |
68 | G>R | No |
ClinGen TOPMed |
|
|
CA341868749 rs1408750577 |
69 | V>L | No |
ClinGen TOPMed |
|
|
rs1325932670 CA886296563 |
73 | V>A | No |
ClinGen TOPMed |
|
|
rs1372259337 CA886296561 |
74 | L>F | No |
ClinGen TOPMed |
|
|
rs1227459388 CA886296532 |
81 | K>T | No |
ClinGen TOPMed |
|
|
CA341868570 rs1337332485 |
89 | E>G | No |
ClinGen TOPMed |
|
|
CA341868475 rs1211637281 |
94 | E>G | No |
ClinGen TOPMed |
|
|
rs1467812614 CA341868315 |
102 | K>N | No |
ClinGen TOPMed |
|
|
CA341868293 rs1191546206 |
104 | P>A | No |
ClinGen TOPMed |
|
|
rs1251318908 CA341868277 |
104 | P>H | No |
ClinGen TOPMed |
|
|
CA341868256 rs1430567653 |
106 | V>M | No |
ClinGen TOPMed |
|
|
CA341868198 rs1193950292 |
108 | R>Q | No |
ClinGen TOPMed |
|
|
rs1570866089 CA341867777 |
127 | I>T | No |
ClinGen Ensembl |
|
|
CA341867783 rs1380188791 |
127 | I>V | No |
ClinGen TOPMed |
|
|
CA1006343930 rs1241649159 |
130 | R>C | No |
ClinGen TOPMed |
|
|
rs1309441590 CA886294428 |
130 | R>H | No |
ClinGen TOPMed |
|
|
CA886294429 rs1241649159 |
130 | R>S | No |
ClinGen TOPMed |
|
|
rs1352345755 CA886294423 |
131 | A>G | No |
ClinGen TOPMed |
|
|
CA886294421 rs1221933546 |
132 | R>* | No |
ClinGen TOPMed |
|
|
CA886294413 rs1280686511 |
132 | R>Q | No |
ClinGen TOPMed |
|
|
CA341867608 rs1209221006 |
140 | T>I | No |
ClinGen TOPMed |
|
|
CA341867558 rs1460200300 |
142 | L>F | No |
ClinGen TOPMed |
|
|
CA341867344 rs1180571952 |
152 | N>S | No |
ClinGen TOPMed |
|
|
CA341867321 rs1238807446 |
154 | E>K | No |
ClinGen TOPMed |
|
|
CA341867252 rs1157301748 |
156 | V>M | No |
ClinGen TOPMed |
|
|
CA341867176 rs1427896280 |
159 | R>* | No |
ClinGen TOPMed |
|
|
CA341867171 rs1415384396 |
159 | R>Q | No |
ClinGen TOPMed |
|
|
CA341865145 rs1237461272 |
167 | D>N | No |
ClinGen TOPMed |
|
|
rs1482476114 CA341865074 |
169 | K>R | No |
ClinGen TOPMed |
|
|
rs1179391584 CA341864679 |
181 | R>H | No |
ClinGen TOPMed |
|
|
CA341864617 rs1156530976 |
183 | D>V | No |
ClinGen TOPMed |
|
|
CA341864421 rs1414581445 |
188 | N>S | No |
ClinGen TOPMed |
|
|
rs1175240352 CA341864368 |
190 | R>C | No |
ClinGen TOPMed |
|
|
rs1357416709 CA341864364 |
190 | R>H | No |
ClinGen TOPMed |
|
|
CA341864252 rs1308335010 |
192 | T>P | No |
ClinGen TOPMed |
|
|
rs1349663885 CA341864213 |
194 | A>S | No |
ClinGen TOPMed |
|
|
CA341864148 rs1409400486 |
196 | L>V | No |
ClinGen TOPMed |
|
|
rs1286734171 CA341864101 |
197 | A>V | No |
ClinGen TOPMed |
|
|
rs1219948068 CA341863735 |
208 | V>L | No |
ClinGen TOPMed |
|
|
rs1278535901 CA341863664 |
211 | R>Q | No |
ClinGen TOPMed |
|
|
rs1310892869 CA341863555 |
214 | W>C | No |
ClinGen TOPMed |
4 associated diseases with O75396
[MIM: 606579]: Vitiligo-associated multiple autoimmune disease 1 (VAMAS1)
A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 615225]: Palmoplantar carcinoma, multiple self-healing (MSPC)
An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. {ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:33093214}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617388]: Autoinflammation with arthritis and dyskeratosis (AIADK)
A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27965258, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33731932}. Note=The disease may be caused by variants affecting the gene represented in this entry.
[MIM: 618803]: Respiratory papillomatosis, juvenile recurrent, congenital (JRRP)
An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. {ECO:0000269|PubMed:31484767}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. {ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:33093214}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27965258, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33731932}. Note=The disease may be caused by variants affecting the gene represented in this entry.
- An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. {ECO:0000269|PubMed:31484767}. Note=The disease may be caused by variants affecting the gene represented in this entry.
10 regional properties for O75396
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CARD domain | 1380 - 1463 | IPR001315 |
| repeat | Leucine-rich repeat | 809 - 830 | IPR001611-1 |
| repeat | Leucine-rich repeat | 864 - 886 | IPR001611-2 |
| repeat | Leucine-rich repeat | 921 - 943 | IPR001611-3 |
| domain | DAPIN domain | 1 - 92 | IPR004020 |
| domain | NACHT nucleoside triphosphatase | 328 - 637 | IPR007111 |
| domain | FIIND domain | 1079 - 1364 | IPR025307 |
| domain | CARD8/ASC/NALP1, CARD domain | 1380 - 1460 | IPR033516 |
| domain | NOD2, winged helix domain | 567 - 613 | IPR041075 |
| domain | NACHT, LRR and PYD domains-containing protein, helical domain HD2 | 623 - 733 | IPR041267 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum-Golgi intermediate compartment | A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport. |
| endoplasmic reticulum-Golgi intermediate compartment membrane | The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system. |
| ER to Golgi transport vesicle membrane | The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi. |
| 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. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| 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. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| SNAP receptor activity | Acting as a marker to identify a membrane and interacting selectively with one or more SNAREs on another membrane to mediate membrane fusion. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| endoplasmic reticulum to Golgi vesicle-mediated transport | The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
| negative regulation of autophagosome assembly | Any process that stops, prevents or reduces the frequency, rate or extent of autophagosome assembly. |
| positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| 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. |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG. |
| vesicle fusion with Golgi apparatus | The joining of the lipid bilayer membrane around a vesicle to the lipid bilayer membrane around the Golgi. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZJW4 | SEC22B | Vesicle-trafficking protein SEC22b | Gallus gallus (Chicken) | SS |
| O08547 | Sec22b | Vesicle-trafficking protein SEC22b | Mus musculus (Mouse) | EV |
| Q4KM74 | Sec22b | Vesicle-trafficking protein SEC22b | Rattus norvegicus (Rat) | SS |
| Q94AU2 | SEC22 | 25.3 kDa vesicle transport protein | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6P7L4 | sec22b | Vesicle-trafficking protein SEC22b | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q7SXP0 | sec22bb | Vesicle-trafficking protein SEC22b-B | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7ZV15 | sec22ba | Vesicle-trafficking protein SEC22b-A | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLLTMIARV | ADGLPLAASM | QEDEQSGRDL | QQYQSQAKQL | FRKLNEQSPT | RCTLEAGAMT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FHYIIEQGVC | YLVLCEAAFP | KKLAFAYLED | LHSEFDEQHG | KKVPTVSRPY | SFIEFDTFIQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KTKKLYIDSR | ARRNLGSINT | ELQDVQRIMV | ANIEEVLQRG | EALSALDSKA | NNLSSLSKKY |
| 190 | 200 | 210 | |||
| RQDAKYLNMR | STYAKLAAVA | VFFIMLIVYV | RFWWL |