Q14141
Gene name |
SEPTIN6 |
Protein name |
Septin-6 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23157 |
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
5 structures for Q14141
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2QAG | X-ray | 400 A | B | 1-427 | PDB |
| 6UPA | X-ray | 251 A | B | 40-305 | PDB |
| 6WBP | X-ray | 180 A | A/B | 347-399 | PDB |
| 7M6J | EM | 360 A | B/E | 1-427 | PDB |
| AF-Q14141-F1 | Predicted | AlphaFoldDB |
197 variants for Q14141
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1402602377 CA414379663 |
3 | A>E | No |
ClinGen TOPMed |
|
|
CA334987352 rs1002298615 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs766039880 CA10502901 |
4 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs904048399 CA334987351 |
5 | D>N | No |
ClinGen Ensembl |
|
|
CA414379571 rs1411242759 |
7 | A>V | No |
ClinGen gnomAD |
|
|
CA414379555 rs1190093398 |
8 | R>L | No |
ClinGen gnomAD |
|
|
CA10502888 rs756379839 |
15 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 18 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10502887 COSM3694301 rs142751892 |
18 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA334986014 rs909434497 |
19 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA414376339 rs1422509886 |
20 | A>D | No |
ClinGen TOPMed |
|
|
rs779384782 CA10502886 |
21 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414376288 rs1350992982 |
22 | H>Q | No |
ClinGen TOPMed |
|
|
CA414376213 rs1459840006 |
25 | F>S | No |
ClinGen TOPMed |
|
|
CA334986012 rs1049334815 |
27 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 28 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754207172 CA10502884 |
29 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs866321109 CA334986011 |
31 | Q>R | No |
ClinGen Ensembl |
|
|
rs750121461 CA10502881 |
37 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414375879 rs1345809309 |
38 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10502880 rs767080051 |
45 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA334986010 rs904129054 |
45 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10502878 rs751182700 |
48 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270005006 CA414386629 |
52 | G>D | No |
ClinGen gnomAD |
|
|
CA414386580 rs1328230951 |
56 | S>C | No |
ClinGen gnomAD |
|
|
CA414386552 rs1277498379 |
59 | M>L | No |
ClinGen gnomAD |
|
|
rs1277498379 CA414386553 |
59 | M>V | No |
ClinGen gnomAD |
|
|
CA414386525 rs749788809 |
63 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10502866 rs749788809 |
63 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780415210 CA10502865 |
64 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA414386501 rs1391918744 |
64 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10502864 rs756449713 |
66 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs745448518 CA10502863 |
67 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780988234 CA10502862 |
68 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA414386421 rs1321809903 |
70 | E>D | No |
ClinGen gnomAD |
|
|
rs1043794760 CA334985024 |
70 | E>K | No |
ClinGen TOPMed |
|
|
CA414386417 rs1457118853 |
71 | P>T | No |
ClinGen gnomAD |
|
|
CA10502861 rs757029176 |
73 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414386384 rs1231224061 COSM247254 |
73 | T>I | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA334985023 rs11547934 |
74 | H>N | No |
ClinGen Ensembl |
|
|
rs200008901 CA10502860 |
75 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763555927 CA10502859 |
75 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs199562714 CA334985022 |
76 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10502858 rs758319667 |
77 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs186506770 CA334985021 |
78 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186506770 CA10502856 |
78 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1256571248 CA414386276 |
81 | L>F | No |
ClinGen TOPMed |
|
|
rs1209292665 CA414386238 |
83 | S>F | No |
ClinGen gnomAD |
|
|
CA10502854 rs200932703 |
85 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10502853 rs776465187 |
86 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334985020 rs960522238 |
86 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10502852 rs767701064 |
87 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1000835123 CA334985019 |
91 | S>C | No |
ClinGen gnomAD |
|
|
CA414386091 rs1243232786 |
91 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10502851 rs780764092 |
94 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 95 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774447993 COSM1113915 CA10502850 |
98 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774447993 CA414385884 |
98 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138699101 CA10502847 |
100 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168033728 CA414385706 |
105 | F>L | No |
ClinGen TOPMed |
|
|
CA414385547 rs1161911413 |
110 | N>K | No |
ClinGen gnomAD |
|
|
rs1390890346 CA414385462 |
113 | D>E | No |
ClinGen gnomAD |
|
|
rs1188049166 CA414385452 |
114 | S>G | No |
ClinGen gnomAD |
|
|
rs1252152227 CA414381747 |
114 | S>R | No |
ClinGen TOPMed |
|
|
rs746618579 CA10502824 |
119 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA334984135 rs901530290 COSM1625445 |
121 | F>L | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10502823 rs777283174 |
122 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 124 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747586423 CA10502821 |
124 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA414381521 rs1440215664 |
125 | Q>R | No |
ClinGen gnomAD |
|
|
rs778522708 CA10502820 |
129 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414381239 rs1413945075 |
137 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA414381215 rs1569430827 |
138 | R>K | No |
ClinGen Ensembl |
|
|
CA414381139 rs1193237119 |
141 | H>Q | No |
ClinGen TOPMed |
|
|
CA334984134 rs371036175 |
141 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1442422868 CA414381113 |
143 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1603340443 CA414380815 |
156 | A>S | No |
ClinGen Ensembl |
|
|
rs979262494 CA334984131 |
157 | P>L | No |
ClinGen TOPMed |
|
|
rs145877420 CA10502815 |
158 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755906559 CA10502816 |
158 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1210259480 CA414380652 |
164 | S>Y | No |
ClinGen gnomAD |
|
|
CA414380634 rs1261883616 |
165 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA334984130 rs888730781 |
167 | L>P | No |
ClinGen Ensembl |
|
|
CA414380573 rs1230704814 |
168 | V>A | No |
ClinGen gnomAD |
|
|
rs765441452 CA10502811 |
169 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA414378960 rs1380697070 |
183 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866977085 COSM1225244 CA16040518 |
190 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 191 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414378642 rs1389342206 |
199 | I>T | No |
ClinGen gnomAD |
|
|
CA10502793 rs755116599 |
206 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414378489 rs1443580117 |
207 | S>N | No |
ClinGen gnomAD |
|
|
rs1330524808 CA414378453 |
209 | G>R | No |
ClinGen TOPMed |
|
|
CA10502790 rs761281823 |
212 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA334983924 rs137927954 |
218 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10502789 rs758895519 |
221 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768363612 CA10502785 |
229 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748783813 CA10502784 |
230 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414377286 rs1242552845 |
232 | H>R | No |
ClinGen gnomAD |
|
|
CA10502747 rs752361865 |
232 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764588243 CA10502746 |
234 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414377185 rs1269914406 |
240 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10502744 rs776067307 |
246 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs770865725 CA10502743 |
250 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973965192 CA334983232 |
253 | A>T | No |
ClinGen Ensembl |
|
|
CA414376927 rs1277481730 |
253 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 254 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 257 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414376832 rs1437439596 |
257 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 257 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10502741 rs371143998 |
257 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414376782 rs1313683898 |
259 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449007499 CA414376716 |
263 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 266 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10502723 rs773285576 |
270 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA414375076 rs1314271263 |
271 | F>S | No |
ClinGen TOPMed |
|
|
CA414374997 rs149227275 |
275 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149227275 CA10502722 |
275 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746541392 CA334982971 |
275 | R>W | No |
ClinGen TOPMed |
|
|
CA10502721 rs4335271 |
280 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10502720 rs774062800 |
280 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334982970 COSM1465229 rs4335271 |
280 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770027309 CA10502719 |
283 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA414374861 rs1420235417 |
285 | D>N | No |
ClinGen gnomAD |
|
|
CA10502718 rs746109010 |
287 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414374840 rs1250800962 |
287 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10502715 rs747452514 |
293 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747452514 CA10502716 |
293 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781286262 CA10502717 |
293 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414374788 rs1200794980 |
294 | H>Y | No |
ClinGen gnomAD |
|
|
rs1327604408 CA414374770 |
295 | Y>C | No |
ClinGen gnomAD |
|
|
CA10502714 rs778251936 |
299 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM3424396 CA10502712 rs202165661 |
300 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1004926823 CA334982966 |
300 | R>H | No |
ClinGen TOPMed |
|
|
rs1355032750 CA414374627 |
306 | M>V | No |
ClinGen TOPMed |
|
|
rs1214535940 CA414374568 |
310 | D>N | No |
ClinGen gnomAD |
|
|
CA10502708 rs765918846 |
312 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382009114 CA414373837 |
331 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 339 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 342 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334982720 rs200952589 |
343 | R>K | No |
ClinGen Ensembl |
|
|
rs1178428302 CA414373736 |
344 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10502672 rs760931761 |
345 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs766570333 CA10502673 |
345 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766570333 CA414373734 |
345 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398546784 CA414373720 |
347 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10502670 rs748619436 |
349 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs943889211 CA334982719 |
349 | R>Q | No |
ClinGen TOPMed |
|
|
CA10502668 rs201323262 |
350 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414373696 rs1178226799 |
351 | K>Q | No |
ClinGen TOPMed |
|
|
rs769262072 CA10502667 |
352 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780604408 CA10502665 |
355 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10502663 rs745539594 |
356 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1323775115 CA414373631 |
360 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756729336 CA10502660 |
362 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261601310 CA414373282 |
366 | E>D | No |
ClinGen gnomAD |
|
|
CA10502652 rs767841172 |
366 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1185195184 CA414373273 |
367 | K>N | No |
ClinGen gnomAD |
|
|
CA10502651 rs150468538 COSM3694300 |
370 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs774531425 CA10502650 |
370 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10502649 rs769023146 |
374 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA414373146 rs1436628958 |
385 | K>T | No |
ClinGen gnomAD |
|
|
CA10502646 rs770285776 |
387 | K>T | No |
ClinGen ExAC |
|
|
rs917081681 CA334982422 |
390 | D>N | No |
ClinGen TOPMed |
|
|
CA10502645 rs745458590 |
393 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs187932850 CA10502644 |
394 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414373047 rs1347083285 |
399 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1347083285 CA414373049 |
399 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA414373045 rs1303393531 |
399 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770681536 CA10502643 COSM1294484 |
401 | T>M | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10502642 rs746468087 |
402 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 403 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 403 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334982420 rs17856302 |
406 | L>P | No |
ClinGen Ensembl |
|
|
CA10502639 rs752639688 |
407 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10502638 rs778625882 |
408 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773281135 CA10502637 |
411 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1252894114 CA414372965 |
412 | Q>H | No |
ClinGen gnomAD |
|
|
rs1340574657 CA414372958 |
413 | A>V | No |
ClinGen TOPMed |
|
|
CA414372910 rs1045609413 |
421 | R>K | No |
ClinGen gnomAD |
|
|
CA334982417 rs1045609413 |
421 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs918690913 CA334982416 |
424 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 427 | N>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768533782 CA10502597 |
433 | T>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q14141
1 regional properties for Q14141
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Septin-type guanine nucleotide-binding (G) domain | 39 - 308 | IPR030379 |
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
| cell division site | The eventual plane of cell division (also known as cell cleavage or cytokinesis) in a dividing cell. In Eukaryotes, the cleavage apparatus, composed of septin structures and the actomyosin contractile ring, forms along this plane, and the mitotic, or meiotic, spindle is aligned perpendicular to the division plane. In bacteria, the cell division site is generally located at mid-cell and is the site at which the cytoskeletal structure, the Z-ring, assembles. |
| cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| septin collar | A tubular, hourglass-shaped structure composed of highly ordered arrays of septin filaments; in budding yeast cells, the septin collar forms from the initial septin ring by expanding into the daughter cell. |
| septin complex | A protein complex containing septins. Typically, these complexes contain multiple septins and are oligomeric. |
| septin ring | A tight ring-shaped structure that forms in the division plane at the site of cytokinesis; composed of members of the conserved family of filament-forming proteins called septins as well as septin-associated proteins. This type of septin structure is observed at the bud neck of budding fungal cells, at the site of cell division in animal cells, at the junction between the mother cell and a pseudohyphal projection, and also within hyphae of filamentous fungi at sites where a septum will form. |
| sperm annulus | The ring-like, filamentous structure located at the distal end of the midpiece of the sperm flagellum; the annulus is thought to form a diffusion barrier between the midpiece and the principal piece and serve as a stabilizing structure for tail rigidity. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| cytoskeleton-dependent cytokinesis | A cytokinesis that involves the function of a set of proteins that are part of the microfilament or microtubule cytoskeleton. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32468 | CDC12 | Cell division control protein 12 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q07657 | SHS1 | Seventh homolog of septin 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32457 | CDC3 | Cell division control protein 3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A2VE99 | SEPTIN11 | Septin-11 | Bos taurus (Bovine) | PR |
| A6QQL3 | SEPTIN14 | Septin-14 | Bos taurus (Bovine) | PR |
| Q3SZN0 | SEPTIN6 | Septin-6 | Bos taurus (Bovine) | PR |
| P54359 | 02-Sep | Septin-2 | Drosophila melanogaster (Fruit fly) | PR |
| Q16181 | SEPTIN7 | Septin-7 | Homo sapiens (Human) | PR |
| Q9P0V9 | SEPTIN10 | Septin-10 | Homo sapiens (Human) | PR |
| Q9NVA2 | SEPTIN11 | Septin-11 | Homo sapiens (Human) | PR |
| Q9UH03 | SEPTIN3 | Neuronal-specific septin-3 | Homo sapiens (Human) | PR |
| Q9UHD8 | SEPTIN9 | Septin-9 | Homo sapiens (Human) | PR |
| Q8C1B7 | Septin11 | Septin-11 | Mus musculus (Mouse) | PR |
| Q8CHH9 | Septin8 | Septin-8 | Mus musculus (Mouse) | PR |
| Q9DA97 | Septin14 | Septin-14 | Mus musculus (Mouse) | PR |
| Q9R1T4 | Septin6 | Septin-6 | Mus musculus (Mouse) | PR |
| B0BNF1 | Septin8 | Septin-8 | Rattus norvegicus (Rat) | PR |
| B3GNI6 | Septin11 | Septin-11 | Rattus norvegicus (Rat) | PR |
| A4FUM1 | sept8b | Septin-8-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q642H3 | sept8a | Septin-8-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAATDIARQV | GEGCRTVPLA | GHVGFDSLPD | QLVNKSVSQG | FCFNILCVGE | TGLGKSTLMD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLFNTKFEGE | PATHTQPGVQ | LQSNTYDLQE | SNVRLKLTIV | STVGFGDQIN | KEDSYKPIVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FIDAQFEAYL | QEELKIRRVL | HTYHDSRIHV | CLYFIAPTGH | SLKSLDLVTM | KKLDSKVNII |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PIIAKADAIS | KSELTKFKIK | ITSELVSNGV | QIYQFPTDDE | SVAEINGTMN | AHLPFAVIGS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TEELKIGNKM | MRARQYPWGT | VQVENEAHCD | FVKLREMLIR | VNMEDLREQT | HTRHYELYRR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CKLEEMGFKD | TDPDSKPFSL | QETYEAKRNE | FLGELQKKEE | EMRQMFVQRV | KEKEAELKEA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EKELHEKFDR | LKKLHQDEKK | KLEDKKKSLD | DEVNAFKQRK | TAAELLQSQG | SQAGGSQTLK |
| 430 | |||||
| RDKEKKNNPW | LCTE |