P21579
PR
Gene name |
SYT1 (SVP65, SYT) |
Protein name |
Synaptotagmin-1 |
Names |
Synaptotagmin I, SytI, p65 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6857 |
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
24 structures for P21579
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2K45 | NMR | - | A | 141-268 | PDB |
| 2K4A | NMR | - | A | 141-268 | PDB |
| 2K8M | NMR | - | A/D | 141-268 | PDB |
| 2KI6 | NMR | - | A/F | 141-268 | PDB |
| 2LHA | NMR | - | A | 271-422 | PDB |
| 2N1T | NMR | - | E | 272-419 | PDB |
| 2R83 | X-ray | 270 A | A/B | 141-422 | PDB |
| 3F00 | X-ray | 136 A | A | 141-266 | PDB |
| 3F01 | X-ray | 170 A | A | 141-266 | PDB |
| 3F04 | X-ray | 135 A | A | 141-266 | PDB |
| 3F05 | X-ray | 140 A | A | 141-266 | PDB |
| 4ISQ | X-ray | 265 A | D/E/F | 33-53 | PDB |
| 4V11 | X-ray | 195 A | A | 273-422 | PDB |
| 6G5F | X-ray | 250 A | P | 33-53 | PDB |
| 6G5K | X-ray | 200 A | C/D | 33-53 | PDB |
| 6QNS | X-ray | 240 A | S | 33-53 | PDB |
| 6TZ3 | X-ray | 117 A | A | 272-422 | PDB |
| 6U41 | X-ray | 170 A | A | 272-422 | PDB |
| 6U4U | X-ray | 130 A | A | 272-422 | PDB |
| 6U4W | X-ray | 140 A | A | 272-422 | PDB |
| 6ZVN | X-ray | 250 A | BBB | 33-53 | PDB |
| 7TUA | X-ray | 135 A | A | 272-422 | PDB |
| 7U4Q | X-ray | 156 A | A/B | 141-267 | PDB |
| AF-P21579-F1 | Predicted | AlphaFoldDB |
211 variants for P21579
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000735271 rs1565922388 RCV000721122 VAR_081536 CA385930590 |
303 | M>K | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome BAGOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA385930598 rs1565922395 RCV000735272 RCV000721123 VAR_081537 |
304 | D>G | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome BAGOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000623042 CA385931839 rs1555226395 |
364 | D>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_081538 CA385931861 RCV001254686 RCV000721125 rs1565962725 RCV000735269 |
366 | D>E | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Syndromic intellectual disability BAGOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1593076474 RCV001027965 |
367 | K>missing | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002527129 RCV000721124 RCV000735268 RCV000497062 CA385931875 rs1135402761 VAR_072911 |
368 | I>T | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Inborn genetic diseases BAGOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA385931899 rs144900171 RCV000735270 RCV000721126 VAR_081539 |
371 | N>K | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome BAGOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
rs773799671 CA6698691 |
2 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749278769 CA6698692 |
3 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA240406494 rs747445457 |
3 | S>R | No |
ClinGen gnomAD |
|
|
rs774685659 CA6698694 |
4 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs771092466 CA6698693 |
4 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385928470 rs1225444616 |
5 | S>N | No |
ClinGen gnomAD |
|
|
CA385928476 rs1592862797 |
6 | H>P | No |
ClinGen Ensembl |
|
|
CA6698698 rs761708111 |
11 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6698697 rs776513464 |
11 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761708111 CA385928519 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765050103 CA6698699 |
13 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385928570 rs1592862851 |
16 | T>P | No |
ClinGen Ensembl |
|
|
CA385928589 rs1204888047 |
17 | T>S | No |
ClinGen gnomAD |
|
|
rs1250124189 CA385928602 |
18 | V>A | No |
ClinGen gnomAD |
|
|
COSM1317966 rs144005237 CA6698703 |
19 | A>T | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA240406514 COSM1470623 rs868227414 |
19 | A>V | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA385928625 rs1161190060 |
21 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1161190060 CA385928626 |
21 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780826447 CA385928654 |
23 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780826447 CA6698705 |
23 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6698706 rs571651990 |
24 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385928677 rs756524659 |
25 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs756524659 CA6698707 |
25 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs770913928 CA6698710 |
26 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6698709 rs749842628 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA385928716 rs1592862953 |
28 | E>D | No |
ClinGen Ensembl |
|
|
CA385928712 rs1243858046 |
28 | E>G | No |
ClinGen gnomAD |
|
|
CA6698713 rs148639832 |
29 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6698712 rs148639832 |
29 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360408374 CA385928738 |
30 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6698714 rs775890153 |
31 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs761486601 CA6698715 |
34 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6698717 rs773015890 |
35 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1458275580 CA385928816 |
36 | K>N | No |
ClinGen gnomAD |
|
|
rs763002892 COSM1705959 CA6698718 |
37 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385928892 rs1482599367 |
42 | K>E | No |
ClinGen gnomAD |
|
|
rs924926493 CA240406538 |
46 | K>* | No |
ClinGen Ensembl |
|
|
rs1416960647 CA385928993 |
48 | M>I | No |
ClinGen gnomAD |
|
|
rs377648658 CA6698722 |
48 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752396450 CA6698723 |
50 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936354660 CA240406545 |
51 | L>M | No |
ClinGen Ensembl |
|
|
rs1358504455 CA385929100 |
54 | I>M | No |
ClinGen gnomAD |
|
|
CA240406548 rs748855887 |
55 | P>T | No |
ClinGen Ensembl |
|
|
CA385928543 rs1431810122 |
58 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385928580 rs1468347856 |
61 | L>V | No |
ClinGen TOPMed |
|
|
CA385928594 rs1329573733 |
62 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754167995 CA6698748 |
63 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754167995 CA240421786 |
63 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6698749 rs769801794 |
64 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6698750 rs142140804 |
65 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385928639 rs1281576578 |
66 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 67 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193400094 CA385928663 COSM943684 |
68 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs948883366 CA240421792 |
68 | A>V | No |
ClinGen gnomAD |
|
|
rs780336303 CA6698753 |
71 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6698752 rs758543892 |
71 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA385928696 rs758543892 |
71 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001270794 rs1879285348 |
75 | C>F | No |
ClinVar dbSNP |
|
|
CA385928766 rs1565890913 |
76 | C>F | No |
ClinGen Ensembl |
|
|
rs755159855 COSM1364385 CA6698755 |
77 | F>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781298839 CA6698756 |
83 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565890937 CA385928887 |
84 | L>F | No |
ClinGen Ensembl |
|
|
rs1322287032 CA385928904 |
85 | F>L | No |
ClinGen TOPMed |
|
|
CA240421802 rs201459384 |
88 | K>E | No |
ClinGen 1000Genomes |
|
| TCGA novel | 90 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6698758 rs199801138 |
90 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385928986 rs1172691939 |
91 | K>R | No |
ClinGen TOPMed |
|
|
CA240421808 rs867821368 |
93 | G>E | No |
ClinGen Ensembl |
|
|
rs376592344 CA6698760 |
94 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA240421813 COSM106710 rs138582600 |
95 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1407136922 CA385929082 |
99 | K>M | No |
ClinGen gnomAD |
|
|
rs775009553 CA6698762 |
101 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA385929112 rs1392702391 |
101 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749466656 CA6698763 |
105 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6698768 rs762233198 |
109 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs776175729 CA6698767 |
109 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6698769 rs765758260 |
112 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1628854 CA6698770 rs554790344 |
113 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1418305194 CA385929222 |
116 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1283779176 CA385929234 |
117 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 119 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385929273 rs1483471349 |
121 | D>H | No |
ClinGen gnomAD |
|
|
rs1382922670 CA385929285 |
122 | D>E | No |
ClinGen TOPMed |
|
|
rs758489492 CA240423120 |
122 | D>V | No |
ClinGen Ensembl |
|
|
rs764257742 CA6698815 |
123 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA240423126 rs898647413 |
126 | T>P | No |
ClinGen Ensembl |
|
|
rs866979323 CA240423129 |
127 | G>R | No |
ClinGen Ensembl |
|
|
rs758186429 CA6698817 |
128 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1219685444 CA385929337 |
130 | D>E | No |
ClinGen gnomAD |
|
|
CA385929345 rs1306238645 |
132 | E>K | No |
ClinGen gnomAD |
|
|
CA6698818 rs779784782 |
133 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1357990106 CA385929362 |
134 | K>T | No |
ClinGen TOPMed |
|
|
CA6698819 rs751377933 |
137 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA385929393 rs1490267611 |
138 | K>R | No |
ClinGen gnomAD |
|
|
CA240423140 rs1047128822 |
139 | E>Q | No |
ClinGen Ensembl |
|
|
rs754816694 CA6698821 |
141 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6698822 rs781303142 |
145 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755727479 CA6698824 |
147 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6698825 rs777547226 |
150 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs771321547 CA385929528 |
157 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6698826 rs749007399 |
157 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748834320 CA6698844 |
165 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1331986768 CA385929604 |
167 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1450554643 CA385929605 |
168 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1565895770 CA385929659 |
175 | G>V | No |
ClinGen Ensembl |
|
|
rs1271381185 CA385929702 |
182 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385929710 rs1309651992 |
183 | K>R | No |
ClinGen gnomAD |
|
|
rs1001434427 CA240423939 |
185 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 186 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472946549 CA385929826 |
199 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs7972950 CA240423944 |
200 | R>* | No |
ClinGen TOPMed |
|
| TCGA novel | 201 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185692793 CA385929865 |
206 | V>I | No |
ClinGen gnomAD |
|
|
rs1417065934 CA385929872 |
207 | F>L | No |
ClinGen gnomAD |
|
|
rs1438972216 CA385929880 |
208 | N>D | No |
ClinGen TOPMed |
|
|
rs745632757 CA6698848 |
210 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA240423946 rs745632757 |
210 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385929989 rs1489107422 |
222 | G>S | No |
ClinGen gnomAD |
|
|
CA6698876 rs763302403 |
226 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771282851 CA6698877 |
229 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6698878 rs775367024 |
231 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA240424554 rs866492376 |
234 | R>C | No |
ClinGen Ensembl |
|
| TCGA novel | 239 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 244 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385930175 rs1420595145 |
248 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385930171 rs1410401047 |
248 | M>V | No |
ClinGen gnomAD |
|
|
CA385930191 rs1364064019 |
250 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753850418 CA6698881 |
257 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6698884 rs750035344 COSM1364391 |
261 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385930266 rs1355252350 |
261 | R>H | No |
ClinGen gnomAD |
|
|
rs765526384 CA240424556 |
266 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs866835205 CA240424557 |
269 | E>K | No |
ClinGen Ensembl |
|
|
rs779707899 CA6698886 |
270 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1246676792 CA385930359 |
272 | E>V | No |
ClinGen gnomAD |
|
|
CA6698899 rs761872475 |
276 | D>N | No |
ClinGen ExAC |
|
|
CA385930406 rs1338532197 |
279 | F>L | No |
ClinGen gnomAD |
|
|
CA385930407 rs1338532197 |
279 | F>V | No |
ClinGen gnomAD |
|
|
RCV001311001 rs1882993257 |
282 | R>H | No |
ClinVar dbSNP |
|
|
rs1183132972 CA385930540 |
299 | N>K | No |
ClinGen gnomAD |
|
|
rs896963475 CA240430356 |
305 | V>M | No |
ClinGen TOPMed |
|
| rs375690617 | 309 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6698950 rs578020489 |
312 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385931477 rs1452558793 |
314 | K>R | No |
ClinGen TOPMed |
|
|
CA6698952 rs764607878 |
318 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754389860 CA385931523 |
320 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1297570788 CA385931528 |
321 | G>V | No |
ClinGen gnomAD |
|
|
rs762339486 CA6698954 |
331 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6698955 rs543535766 |
334 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 334 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385931638 rs1382398487 |
337 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385931726 rs1475127130 |
349 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 350 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258087423 CA385931793 |
356 | V>A | No |
ClinGen gnomAD |
|
|
rs1182079747 CA385931791 |
356 | V>L | No |
ClinGen TOPMed |
|
|
CA385931802 rs1207503341 |
357 | Q>H | No |
ClinGen gnomAD |
|
|
rs751664626 CA6698977 |
358 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA385931814 rs1593076434 |
359 | V>G | No |
ClinGen Ensembl |
|
|
rs1185784222 CA385931809 |
359 | V>M | No |
ClinGen gnomAD |
|
|
rs1593076452 CA385931819 |
360 | V>G | No |
ClinGen Ensembl |
|
|
rs781416697 CA6698979 |
360 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 364 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 371 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405393934 CA385931911 |
373 | A>V | No |
ClinGen gnomAD |
|
|
CA240457318 rs867735442 |
375 | G>D | No |
ClinGen Ensembl |
|
|
RCV000782060 rs1565962778 |
377 | V>missing | No |
ClinVar dbSNP |
|
|
CA385931938 rs1360029953 |
377 | V>A | No |
ClinGen gnomAD |
|
|
CA6698983 CA385931974 rs745849736 |
382 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA385931987 rs986630277 |
384 | T>I | No |
ClinGen gnomAD |
|
|
rs986630277 CA240457323 |
384 | T>N | No |
ClinGen gnomAD |
|
|
CA6698985 rs143749580 |
385 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768372180 CA6698987 |
386 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6698988 rs752731207 |
386 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6698991 rs141966106 |
389 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6698992 rs763302796 |
389 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 399 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377017458 CA385932085 COSM943695 |
400 | R>* | endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1477066025 CA385932087 |
400 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6698995 rs759645770 |
401 | P>H | No |
ClinGen ExAC |
|
| TCGA novel | 402 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6698997 rs752964530 |
410 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA240457341 rs752964530 |
410 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385932166 rs1281671892 |
412 | E>* | No |
ClinGen TOPMed |
|
|
rs1401016003 CA385932184 |
414 | V>A | No |
ClinGen gnomAD |
|
|
rs796766684 CA385932186 |
415 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs796766684 CA240457346 |
415 | D>Y | No |
ClinGen gnomAD |
|
|
rs1033953187 CA240457348 |
416 | A>T | No |
ClinGen TOPMed |
|
|
rs1303052244 CA385932205 |
417 | M>I | No |
ClinGen gnomAD |
|
|
CA6699004 rs369953539 |
420 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6699003 rs61756211 |
420 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 421 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399773270 CA385932236 |
422 | K>N | No |
ClinGen TOPMed |
|
|
CA6699005 rs780980459 |
423 | K>K | No |
ClinGen ExAC gnomAD |
1 associated diseases with P21579
[MIM: 618218]: Baker-Gordon syndrome (BAGOS)
An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation. {ECO:0000269|PubMed:25705886, ECO:0000269|PubMed:25712080, ECO:0000269|PubMed:30107533}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation. {ECO:0000269|PubMed:25705886, ECO:0000269|PubMed:25712080, ECO:0000269|PubMed:30107533}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for P21579
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 142 - 263 | IPR000008-1 |
| domain | C2 domain | 273 - 406 | IPR000008-2 |
| domain | Synaptotagmin | 277 - 292 | IPR001565-1 |
| domain | Synaptotagmin | 292 - 305 | IPR001565-2 |
| domain | Synaptotagmin | 349 - 364 | IPR001565-3 |
| domain | Synaptotagmin | 369 - 379 | IPR001565-4 |
Functions
22 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| chromaffin granule membrane | The lipid bilayer surrounding a chromaffin granule, a specialized secretory vesicle found in the cells of adrenal glands and various other organs, which is concerned with the synthesis, storage, metabolism, and secretion of epinephrine and norepinephrine. |
| clathrin-coated endocytic vesicle membrane | The lipid bilayer surrounding a clathrin-coated endocytic vesicle. |
| clathrin-sculpted acetylcholine transport vesicle membrane | The lipid bilayer surrounding a clathrin-sculpted acetylcholine transport vesicle. |
| clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane | The lipid bilayer surrounding a clathrin-sculpted gamma-aminobutyric acid transport vesicle. |
| clathrin-sculpted glutamate transport vesicle membrane | The lipid bilayer surrounding a clathrin-sculpted glutamate transport vesicle. |
| clathrin-sculpted monoamine transport vesicle membrane | The lipid bilayer surrounding a clathrin-sculpted monoamine transport vesicle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dense core granule | Electron-dense organelle with a granular internal matrix; contains proteins destined to be secreted. |
| excitatory synapse | A synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell. |
| exocytic vesicle | A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
| hippocampal mossy fiber to CA3 synapse | One of the giant synapses that form between the mossy fiber axons of dentate gyrus granule cells and the large complex spines of CA3 pyramidal cells. It consists of a giant bouton known as the mossy fiber expansion, synapsed to the complex, multiheaded spine (thorny excresence) of a CA3 pyramidal cell. |
| integral component of synaptic vesicle membrane | The component of the synaptic vesicle 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| neuron projection terminus | The specialized, terminal region of a neuron projection such as an axon or a dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
| 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. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
16 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium ion sensor activity | Binding to and responding, e.g. by conformational change, to changes in the cellular level of calcium ions (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
| calcium-dependent protein binding | Binding to a protein or protein complex in the presence of calcium. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| clathrin binding | Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles. |
| identical protein binding | Binding to an identical protein or proteins. |
| low-density lipoprotein particle receptor binding | Binding to a low-density lipoprotein receptor. |
| 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. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
| syntaxin binding | Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse. |
| syntaxin-1 binding | Binding to a syntaxin-1 SNAP receptor. |
| syntaxin-3 binding | Binding to a syntaxin-3 SNAP receptor. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| calcium ion-regulated exocytosis of neurotransmitter | The release of a neurotransmitter into the synaptic cleft by exocytosis of synaptic vesicles, where the release step is dependent on a rise in cytosolic calcium ion levels. |
| calcium-dependent activation of synaptic vesicle fusion | The regulatory process by which increased cytosolic calcium levels lead to the the fusion of synaptic vesicles with the presynaptic active zone membrane by bringing primed synaptic vesicle membrane into contact with membrane presynaptic active zone membrane. |
| calcium-ion regulated exocytosis | The release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| detection of calcium ion | The series of events in which a calcium ion stimulus is received by a cell and converted into a molecular signal. |
| fast, calcium ion-dependent exocytosis of neurotransmitter | The fast, initial phase of calcium ion-induced neurotransmitter release, via exocytosis, into the synaptic cleft. This depends on low affinity calcium sensors and typically begins a fraction of a millisecond after Ca2+ influx, and decays rapidly (1-10ms) with a decay constant of around 5-10ms. The underlying molecular mechanisms of this process are distinct from those of the later, slow phase of release. |
| neurotransmitter secretion | The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission. |
| positive regulation of calcium ion-dependent exocytosis of neurotransmitter | Any process that activates or increases the frequency, rate or extent of calcium ion-dependent exocytosis of neurotransmitter. |
| positive regulation of dendrite extension | Any process that activates or increases the frequency, rate or extent of dendrite extension. |
| positive regulation of dopamine secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine. |
| positive regulation of synaptic transmission | Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. |
| protein heterooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers that are not all identical. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of calcium ion-dependent exocytosis | Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis. |
| regulation of dopamine secretion | Any process that modulates the frequency, rate or extent of the regulated release of dopamine. |
| regulation of exocytosis | Any process that modulates the frequency, rate or extent of exocytosis. |
| regulation of regulated secretory pathway | Any process that modulates the frequency, rate or extent of regulated secretory pathway. |
| regulation of synaptic transmission, glutamatergic | Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| spontaneous neurotransmitter secretion | Neurotransmitter secretion that occurs in the absence of the action of a secretagogue or a presynaptic action potential. |
| synaptic vesicle endocytosis | A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms. |
| synchronous neurotransmitter secretion | Release of neurotransmitter at the synapse that lasts for just a few milliseconds after action potential invasion. |
| vesicle docking | The initial attachment of a transport vesicle membrane to the target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane. Docking requires only that the two membranes come close enough for these proteins to interact and adhere. |
| 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. |
45 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48018 | SYT1 | Synaptotagmin-1 | Bos taurus (Bovine) | PR |
| P21521 | Syt1 | Synaptotagmin 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q86XP0 | PLA2G4D | Cytosolic phospholipase A2 delta | Homo sapiens (Human) | PR |
| Q9HCH5 | SYTL2 | Synaptotagmin-like protein 2 | Homo sapiens (Human) | PR |
| Q96C24 | SYTL4 | Synaptotagmin-like protein 4 | Homo sapiens (Human) | PR |
| Q8N9U0 | TC2N | Tandem C2 domains nuclear protein | Homo sapiens (Human) | PR |
| Q8TDW5 | SYTL5 | Synaptotagmin-like protein 5 | Homo sapiens (Human) | PR |
| Q8IYJ3 | SYTL1 | Synaptotagmin-like protein 1 | Homo sapiens (Human) | PR |
| Q6XYQ8 | SYT10 | Synaptotagmin-10 | Homo sapiens (Human) | PR |
| Q7L8C5 | SYT13 | Synaptotagmin-13 | Homo sapiens (Human) | PR |
| Q86SS6 | SYT9 | Synaptotagmin-9 | Homo sapiens (Human) | PR |
| Q9BQG1 | SYT3 | Synaptotagmin-3 | Homo sapiens (Human) | PR |
| Q9BT88 | SYT11 | Synaptotagmin-11 | Homo sapiens (Human) | PR |
| O00445 | SYT5 | Synaptotagmin-5 | Homo sapiens (Human) | PR |
| Q9H2B2 | SYT4 | Synaptotagmin-4 | Homo sapiens (Human) | PR |
| O43581 | SYT7 | Synaptotagmin-7 | Homo sapiens (Human) | PR |
| Q9BQS2 | SYT15 | Synaptotagmin-15 | Homo sapiens (Human) | PR |
| Q5T7P8 | SYT6 | Synaptotagmin-6 | Homo sapiens (Human) | PR |
| P40749 | Syt4 | Synaptotagmin-4 | Mus musculus (Mouse) | PR |
| Q9EQT6 | Syt13 | Synaptotagmin-13 | Mus musculus (Mouse) | PR |
| Q9R0N4 | Syt10 | Synaptotagmin-10 | Mus musculus (Mouse) | PR |
| Q99N80 | Sytl1 | Synaptotagmin-like protein 1 | Mus musculus (Mouse) | PR |
| Q9R0Q1 | Sytl4 | Synaptotagmin-like protein 4 | Mus musculus (Mouse) | PR |
| Q8C6N3 | Syt15 | Synaptotagmin-15 | Mus musculus (Mouse) | PR |
| Q920N7 | Syt12 | Synaptotagmin-12 | Mus musculus (Mouse) | PR |
| Q80T23 | Sytl5 | Synaptotagmin-like protein 5 | Mus musculus (Mouse) | PR |
| Q9R0N5 | Syt5 | Synaptotagmin-5 | Mus musculus (Mouse) | PR |
| Q9R0N9 | Syt9 | Synaptotagmin-9 | Mus musculus (Mouse) | PR |
| Q9R0N8 | Syt6 | Synaptotagmin-6 | Mus musculus (Mouse) | PR |
| Q50L43 | Pla2g4d | Cytosolic phospholipase A2 delta | Mus musculus (Mouse) | PR |
| Q9R0N3 | Syt11 | Synaptotagmin-11 | Mus musculus (Mouse) | PR |
| O35681 | Syt3 | Synaptotagmin-3 | Mus musculus (Mouse) | PR |
| P46097 | Syt2 | Synaptotagmin-2 | Mus musculus (Mouse) | PR |
| Q91XT6 | Tc2n | Tandem C2 domains nuclear protein | Mus musculus (Mouse) | PR |
| P46096 | Syt1 | Synaptotagmin-1 | Mus musculus (Mouse) | PR |
| Q812E4 | Sytl5 | Synaptotagmin-like protein 5 | Rattus norvegicus (Rat) | PR |
| Q925B5 | Syt13 | Synaptotagmin-13 | Rattus norvegicus (Rat) | PR |
| O08625 | Syt10 | Synaptotagmin-10 | Rattus norvegicus (Rat) | PR |
| P47861 | Syt5 | Synaptotagmin-5 | Rattus norvegicus (Rat) | PR |
| Q62746 | Syt6 | Synaptotagmin-6 | Rattus norvegicus (Rat) | PR |
| P97610 | Syt12 | Synaptotagmin-12 | Rattus norvegicus (Rat) | PR |
| P40748 | Syt3 | Synaptotagmin-3 | Rattus norvegicus (Rat) | PR |
| Q925C0 | Syt9 | Synaptotagmin-9 | Rattus norvegicus (Rat) | PR |
| P59926 | Syt15 | Synaptotagmin-15 | Rattus norvegicus (Rat) | PR |
| P21707 | Syt1 | Synaptotagmin-1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVSESHHEAL | AAPPVTTVAT | VLPSNATEPA | SPGEGKEDAF | SKLKEKFMNE | LHKIPLPPWA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LIAIAIVAVL | LVLTCCFCIC | KKCLFKKKNK | KKGKEKGGKN | AINMKDVKDL | GKTMKDQALK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DDDAETGLTD | GEEKEEPKEE | EKLGKLQYSL | DYDFQNNQLL | VGIIQAAELP | ALDMGGTSDP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YVKVFLLPDK | KKKFETKVHR | KTLNPVFNEQ | FTFKVPYSEL | GGKTLVMAVY | DFDRFSKHDI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGEFKVPMNT | VDFGHVTEEW | RDLQSAEKEE | QEKLGDICFS | LRYVPTAGKL | TVVILEAKNL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKMDVGGLSD | PYVKIHLMQN | GKRLKKKKTT | IKKNTLNPYY | NESFSFEVPF | EQIQKVQVVV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TVLDYDKIGK | NDAIGKVFVG | YNSTGAELRH | WSDMLANPRR | PIAQWHTLQV | EEEVDAMLAV |
| KK |