Q9UH03
PR
Gene name |
SEPTIN3 |
Protein name |
Neuronal-specific septin-3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55964 |
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 Q9UH03
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3SOP | X-ray | 288 A | A/B | 60-329 | PDB |
| 4Z51 | X-ray | 186 A | A | 60-330 | PDB |
| 4Z54 | X-ray | 183 A | A/B | 43-329 | PDB |
| 6UQQ | X-ray | 275 A | C/D | 59-337 | PDB |
| AF-Q9UH03-F1 | Predicted | AlphaFoldDB |
203 variants for Q9UH03
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA411749967 rs1327064617 |
2 | S>F | No |
ClinGen TOPMed |
|
|
rs1318378732 CA411750296 |
5 | L>F | No |
ClinGen TOPMed |
|
|
CA10262906 rs754298934 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA411750312 rs754298934 |
6 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1293845110 CA411750308 |
6 | P>S | No |
ClinGen gnomAD |
|
|
CA10262907 rs200580040 |
10 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411750355 rs200580040 |
10 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs907210159 CA324645201 |
11 | D>G | No |
ClinGen Ensembl |
|
|
rs1487179888 CA411750357 |
11 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182659071 CA10262910 |
12 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780681300 CA10262911 |
12 | A>V | No |
ClinGen ExAC |
|
|
rs748019093 CA10262912 |
20 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA411750485 rs749145994 |
23 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10262915 rs749145994 |
23 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10262916 rs529444459 |
25 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10262917 RCV000914568 rs140094386 |
26 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs957239371 CA324645233 |
30 | K>N | No |
ClinGen TOPMed |
|
|
rs775773434 CA10262920 |
32 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs767648191 CA10262919 |
32 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396253368 CA411750593 |
33 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA324645280 rs778996077 |
34 | I>M | No |
ClinGen Ensembl |
|
|
rs761083906 CA10262921 |
34 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411750596 rs1314356336 |
34 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764705368 CA10262922 |
35 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10262923 rs764705368 |
35 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA10262925 rs765624836 |
36 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA411750636 rs751142409 |
38 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1483422688 CA411750655 |
40 | G>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 40 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411750653 rs1483422688 |
40 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA324645314 rs990453427 |
42 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411750684 rs1324108685 |
43 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1187377656 CA411750705 |
45 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411750720 rs1412740815 |
46 | T>N | No |
ClinGen gnomAD |
|
|
CA411750722 rs1412740815 |
46 | T>S | No |
ClinGen gnomAD |
|
|
CA10262930 rs755972943 |
49 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs777812805 CA10262931 |
51 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025833505 CA324645322 |
51 | M>V | No |
ClinGen Ensembl |
|
|
rs376816587 COSM1162406 CA10262932 COSM1162407 |
52 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10262934 rs532987490 |
52 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10262933 rs532987490 |
52 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411750797 rs1602414096 |
54 | K>E | No |
ClinGen Ensembl |
|
|
rs886854169 CA324645343 |
56 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411750850 rs1353222032 |
58 | T>I | No |
ClinGen gnomAD |
|
|
CA411750853 rs1288451801 |
59 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411750854 rs1288451801 |
59 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA324645350 rs1008009421 |
61 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs149791929 CA10262940 |
67 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768718382 CA10262960 |
70 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10262961 rs776583676 |
71 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1349918184 CA411751129 |
74 | K>E | No |
ClinGen gnomAD |
|
|
rs1438532202 CA411751140 |
75 | S>L | No |
ClinGen gnomAD |
|
|
CA411751155 rs1370137198 |
78 | V>I | No |
ClinGen gnomAD |
|
|
CA324647927 rs980795281 |
80 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1016713293 CA324647943 |
84 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 87 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897081708 CA324647948 |
88 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10262965 rs763354900 |
88 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411751224 rs763354900 |
88 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468028794 CA411751226 |
89 | K>E | No |
ClinGen TOPMed |
|
|
CA324647953 rs994213812 |
90 | A>D | No |
ClinGen TOPMed |
|
|
rs1176353465 CA411751266 |
94 | N>S | No |
ClinGen TOPMed |
|
|
CA411751271 rs200659820 |
95 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA324647969 rs200659820 |
95 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10262966 rs766750532 |
95 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963630628 CA324647987 |
99 | I>M | No |
ClinGen Ensembl |
|
|
CA411751306 rs1259049970 |
100 | P>R | No |
ClinGen TOPMed |
|
|
CA324647996 rs866254849 |
102 | T>K | No |
ClinGen Ensembl |
|
|
rs1026652939 CA324648007 |
103 | V>A | No |
ClinGen TOPMed |
|
|
rs763647661 CA10262970 |
103 | V>L | No |
ClinGen ExAC |
|
|
CA10262971 rs753358088 |
104 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10262972 rs757232820 |
108 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411751359 rs1162161580 |
109 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1291549453 CA411751535 |
112 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411751568 rs1354830732 |
115 | G>S | No |
ClinGen gnomAD |
|
|
CA411751580 rs750322012 |
116 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750322012 CA10262991 |
116 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411751641 rs1349160744 |
122 | T>A | No |
ClinGen gnomAD |
|
|
COSM403790 CA10262993 rs200257467 |
123 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA324648715 rs970757584 |
125 | D>N | No |
ClinGen TOPMed |
|
|
CA411751699 rs1472599178 |
128 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76502929 CA324648721 |
133 | I>F | No |
ClinGen Ensembl |
|
|
CA411751776 rs1251038755 |
134 | N>S | No |
ClinGen TOPMed |
|
|
CA411751802 rs1362034325 |
137 | N>D | No |
ClinGen gnomAD |
|
|
CA411751830 rs1327096011 |
139 | W>G | No |
ClinGen gnomAD |
|
|
rs1413710357 CA411751898 |
144 | K>T | No |
ClinGen TOPMed |
|
|
CA411751926 rs1373809087 |
146 | I>T | No |
ClinGen gnomAD |
|
|
CA10263014 rs752848343 |
147 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs143633264 CA411751980 |
150 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411751984 rs1476404870 |
151 | E>K | No |
ClinGen TOPMed |
|
|
CA10263018 rs757761607 |
153 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780583515 CA10263022 |
160 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411752094 rs1248357667 |
161 | A>T | No |
ClinGen gnomAD |
|
|
rs769633485 COSM1416581 COSM1416582 CA10263024 |
165 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772814428 CA10263025 |
165 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602418111 CA411752153 |
166 | I>T | No |
ClinGen Ensembl |
|
|
rs906926581 CA324649010 |
167 | P>L | No |
ClinGen Ensembl |
|
|
rs1397371645 CA411752187 |
169 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10263028 rs774114003 |
170 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325691040 CA411752205 |
171 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10263030 rs767158735 |
179 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA411752320 rs1276022812 |
182 | G>E | No |
ClinGen TOPMed |
|
|
CA411752325 rs1325488764 |
183 | H>Y | No |
ClinGen gnomAD |
|
|
rs1034405597 CA324649058 |
184 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10263043 rs537431336 |
186 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10263044 rs777516595 |
186 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411752861 rs1286898065 |
187 | P>S | No |
ClinGen gnomAD |
|
|
CA411752857 rs1286898065 |
187 | P>T | No |
ClinGen gnomAD |
|
|
CA10263048 rs773924417 |
191 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866024611 CA324650173 |
193 | M>I | No |
ClinGen Ensembl |
|
|
rs1259720109 CA411752940 |
194 | K>Q | No |
ClinGen gnomAD |
|
|
rs772037800 CA10263050 |
194 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA411752966 rs1602419512 |
196 | L>F | No |
ClinGen Ensembl |
|
|
rs775244301 CA10263051 |
197 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763909793 CA10263054 |
199 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763909793 CA10263053 |
199 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10263055 rs762111239 |
211 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA411753204 rs1373225799 |
215 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA411753250 rs1436956757 |
218 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 223 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324651567 rs767061908 COSM247252 |
225 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs868245028 CA324651572 |
225 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10263082 rs767981853 |
226 | K>N | No |
ClinGen ExAC |
|
|
rs756837523 CA10263084 |
227 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10263083 rs533778878 |
227 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149509806 CA10263086 |
230 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411753870 rs752111182 |
232 | G>D | No |
ClinGen gnomAD |
|
|
CA324651589 rs752111182 |
232 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 234 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 237 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382126439 CA411753943 |
238 | Q>R | No |
ClinGen gnomAD |
|
|
CA411753947 rs1477494693 |
239 | K>E | No |
ClinGen gnomAD |
|
|
CA411754025 rs1569440622 |
249 | T>A | No |
ClinGen Ensembl |
|
|
CA324651610 rs918204868 |
249 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1323685118 CA411754032 |
250 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs370572199 CA10263091 |
250 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411754034 rs1323685118 |
250 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1369881890 CA411754051 |
252 | D>E | No |
ClinGen gnomAD |
|
|
CA10263092 rs748028816 |
253 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1364341794 CA411754066 |
254 | I>M | No |
ClinGen gnomAD |
|
|
CA324652260 rs9611697 |
256 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199868884 CA324652261 |
258 | S>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10263116 rs759640183 |
259 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA411754117 rs1297882164 |
260 | P>S | No |
ClinGen gnomAD |
|
|
rs772074991 CA10263117 |
262 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411754187 rs1311123492 |
270 | Y>D | No |
ClinGen gnomAD |
|
|
CA411754199 rs1240344184 |
271 | Q>H | No |
ClinGen gnomAD |
|
|
rs1348918542 CA411754218 |
274 | G>D | No |
ClinGen gnomAD |
|
|
rs145988168 CA10263120 |
275 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10263121 rs373798153 |
275 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411754227 rs1349558249 |
276 | R>G | No |
ClinGen gnomAD |
|
|
CA10263122 rs535419342 |
276 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750927178 CA324652280 |
278 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 278 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751238686 CA10263124 |
280 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1416583 CA411754253 rs1231090079 COSM1416584 |
280 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA411754297 rs1438927830 |
287 | I>V | No |
ClinGen gnomAD |
|
|
CA10263126 rs780575909 |
288 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 289 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772130998 CA411755030 |
293 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA10263136 rs752780598 |
295 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA10263138 rs761236996 |
297 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs375953778 CA10263139 |
298 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462617159 CA411755115 |
301 | R>Q | No |
ClinGen gnomAD |
|
|
CA10263140 rs776953708 |
302 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA411755124 rs1169690221 |
302 | D>N | No |
ClinGen gnomAD |
|
|
rs1373559067 CA411755152 |
304 | V>D | No |
ClinGen gnomAD |
|
|
rs1327028896 CA411755150 |
304 | V>I | No |
ClinGen gnomAD |
|
|
CA10263166 rs759223881 |
312 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA411755310 rs1464774940 |
314 | E>G | No |
ClinGen gnomAD |
|
|
CA411755339 rs1188742230 |
317 | H>Y | No |
ClinGen gnomAD |
|
|
CA324653220 rs78449786 |
318 | N>T | No |
ClinGen Ensembl |
|
|
CA10263167 rs767117837 |
321 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | Y>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760056137 CA10263169 |
328 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775042669 CA10263168 |
328 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455034376 CA411755548 |
330 | N>S | No |
ClinGen gnomAD |
|
|
CA324653234 rs930994751 |
336 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs369032977 COSM3061519 CA324653235 COSM3061518 |
337 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs756593251 CA10263200 |
338 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778093179 CA10263201 |
340 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10263202 rs749834131 |
345 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411756496 rs749834131 |
345 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324657696 rs901336065 |
346 | L>F | No |
ClinGen gnomAD |
|
|
rs779392410 CA10263204 |
349 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs746652984 CA10263205 |
350 | P>S | No |
ClinGen ExAC |
|
|
rs138812799 CA10263206 |
351 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10263209 rs369867839 |
352 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10263208 rs369867839 |
352 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288858127 CA411756597 |
353 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 354 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429214758 CA411756617 |
354 | C>Y | No |
ClinGen TOPMed |
|
|
CA411756631 rs1215328739 |
355 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1296332945 CA411756710 |
359 | E>C | No |
ClinGen gnomAD |
No associated diseases with Q9UH03
1 regional properties for Q9UH03
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Septin-type guanine nucleotide-binding (G) domain | 58 - 331 | IPR030379 |
8 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. |
| 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. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
| presynaptic cytoskeleton | The portion of the cytoskeleton contained within the presynapse. |
| 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. |
4 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. |
| identical protein binding | Binding to an identical protein or proteins. |
| 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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton-dependent cytokinesis | A cytokinesis that involves the function of a set of proteins that are part of the microfilament or microtubule cytoskeleton. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P25342 | CDC10 | Cell division control protein 10 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q08DM7 | SEPTIN3 | Neuronal-specific septin-3 | Bos taurus (Bovine) | PR |
| Q16181 | SEPTIN7 | Septin-7 | Homo sapiens (Human) | PR |
| Q14141 | SEPTIN6 | Septin-6 | Homo sapiens (Human) | PR |
| Q9P0V9 | SEPTIN10 | Septin-10 | Homo sapiens (Human) | PR |
| Q9NVA2 | SEPTIN11 | Septin-11 | Homo sapiens (Human) | PR |
| Q9UHD8 | SEPTIN9 | Septin-9 | Homo sapiens (Human) | PR |
| Q80UG5 | Septin9 | Septin-9 | Mus musculus (Mouse) | PR |
| Q9Z1S5 | Septin3 | Neuronal-specific septin-3 | Mus musculus (Mouse) | PR |
| Q9QZR6 | Septin9 | Septin-9 | Rattus norvegicus (Rat) | PR |
| Q9WU34 | Septin3 | Neuronal-specific septin-3 | Rattus norvegicus (Rat) | PR |
| A2BGU8 | septin3 | Neuronal-specific septin-3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSKGLPETRT | DAAMSELVPE | PRPKPAVPMK | PMSINSNLLG | YIGIDTIIEQ | MRKKTMKTGF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DFNIMVVGQS | GLGKSTLVNT | LFKSQVSRKA | SSWNREEKIP | KTVEIKAIGH | VIEEGGVKMK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTVIDTPGFG | DQINNENCWE | PIEKYINEQY | EKFLKEEVNI | ARKKRIPDTR | VHCCLYFISP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TGHSLRPLDL | EFMKHLSKVV | NIIPVIAKAD | TMTLEEKSEF | KQRVRKELEV | NGIEFYPQKE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FDEDLEDKTE | NDKIRQESMP | FAVVGSDKEY | QVNGKRVLGR | KTPWGIIEVE | NLNHCEFALL |
| 310 | 320 | 330 | 340 | 350 | |
| RDFVIRTHLQ | DLKEVTHNIH | YETYRAKRLN | DNGGLPPGEG | LLGTVLPPVP | ATPCPTAE |