P46977
PR
Gene name |
STT3A |
Protein name |
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A |
Names |
Oligosaccharyl transferase subunit STT3A, STT3-A, B5, Integral membrane protein 1, Transmembrane protein TMC |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3703 |
EC number |
2.4.99.18: Transferring other glycosyl groups |
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
3 structures for P46977
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6S7O | EM | 350 A | A | 1-705 | PDB |
| 8B6L | EM | 760 A | I | 1-705 | PDB |
| AF-P46977-F1 | Predicted | AlphaFoldDB |
367 variants for P46977
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086762 | 46 | H>R | CDG1WAD; partial loss of function, when tested in a heterologous system; does not affect expression levels [UniProt] | Yes | UniProt |
|
rs1939729667 RCV001328774 |
139 | K>Q | STT3A-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086763 | 160 | R>Q | CDG1WAD; partial loss of function, when tested in a heterologous system; does not affect expression levels [UniProt] | Yes | UniProt |
|
CA6348954 rs765580288 COSM1561538 RCV001252839 |
302 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine Microcephaly [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_086764 | 329 | R>C | CDG1WAD; unknown pathological significance; partial loss of function, when tested in a heterologous system [UniProt] | Yes | UniProt |
| VAR_086765 | 405 | R>C | CDG1WAD; partial loss of function, when tested in a heterologous system; does not affect expression levels [UniProt] | Yes | UniProt |
|
rs780062429 VAR_086766 CA6349031 |
405 | R>H | CDG1WAD [UniProt] | Yes |
ClinGen ExAC TOPMed gnomAD UniProt |
|
rs776079118 COSM267530 CA6349040 RCV001725850 |
437 | R>H | STT3A-congenital disorder of glycosylation Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_086767 | 530 | Y>S | CDG1WAD; unknown pathological significance; partial loss of function, when tested in a heterologous system; does not affect expression levels [UniProt] | Yes | UniProt |
| VAR_086768 | 546 | T>I | CDG1WAD; unknown pathological significance; partial loss of function, when tested in a heterologous system; does not affect expression levels [UniProt] | Yes | UniProt |
|
RCV000088679 rs587777216 CA249894 VAR_070944 |
626 | V>A | STT3A-congenital disorder of glycosylation CDG1WAR; affects activity resulting in hypoglycosylation of STT3A-specific substrates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs765078064 CA6348720 |
4 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs761732666 CA6348719 |
4 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA230464509 rs897233313 |
6 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6348721 rs750391679 |
8 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762736837 CA6348722 |
8 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766340512 CA6348723 |
10 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA230464524 rs756193596 |
11 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6348725 rs756193596 |
11 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383180888 rs1179336023 |
14 | Q>H | No |
ClinGen TOPMed |
|
|
CA6348729 rs779190486 |
22 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6348730 rs746389822 |
24 | S>P | No |
ClinGen ExAC |
|
|
rs1000972719 CA230464551 |
25 | M>V | No |
ClinGen gnomAD |
|
|
CA383180977 RCV001308768 rs1200511204 |
28 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1317453842 CA383180986 |
30 | S>P | No |
ClinGen TOPMed |
|
|
rs1450562484 CA383181007 |
31 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs909671887 CA230465347 |
32 | S>F | No |
ClinGen Ensembl |
|
|
rs747652562 CA6348754 |
34 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6348755 rs769623450 |
34 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 36 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165693496 CA383181048 |
38 | V>I | No |
ClinGen gnomAD |
|
|
CA383181059 rs1395138375 |
40 | R>K | No |
ClinGen gnomAD |
|
|
rs1591369953 CA383181083 |
43 | S>N | No |
ClinGen Ensembl |
|
|
rs1477825956 CA383181387 |
51 | Y>H | No |
ClinGen gnomAD |
|
|
rs1056972430 CA230468205 |
53 | N>Y | No |
ClinGen TOPMed |
|
|
CA6348773 rs777325856 |
55 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs551381052 CA6348774 |
56 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6348775 rs770646467 |
58 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA383181487 rs1393305367 |
58 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs370788494 CA6348777 |
62 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6348779 rs775375522 |
67 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383181694 rs1245792159 |
71 | W>* | No |
ClinGen gnomAD |
|
|
CA6348782 rs773318683 |
74 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs763165967 CA6348783 |
75 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6348784 COSM458696 rs540684198 |
75 | R>Q | cervix Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA383181766 rs1262343448 |
76 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752024843 CA6348785 |
80 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6348786 rs759953502 |
84 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383181939 rs1434243977 |
86 | G>R | No |
ClinGen TOPMed |
|
|
CA6348788 rs768182362 |
87 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA383182034 rs1452027136 |
90 | P>S | No |
ClinGen gnomAD |
|
|
CA6348827 rs779755051 |
99 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383183160 rs1425026276 |
100 | Y>C | No |
ClinGen gnomAD |
|
|
rs754998294 CA6348829 |
101 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771099094 CA6348832 |
108 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332213609 CA383183281 |
109 | T>A | No |
ClinGen gnomAD |
|
|
CA6348833 rs774740808 |
110 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6348834 rs774740808 |
110 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772571488 CA6348835 |
111 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138650872 CA6348836 |
113 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs760936192 CA6348837 |
114 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6348840 rs761408437 |
121 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs764668747 CA6348841 |
124 | S>F | No |
ClinGen ExAC |
|
| TCGA novel | 125 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1025097439 CA230468646 |
127 | T>P | No |
ClinGen Ensembl |
|
|
CA6348842 rs750079949 |
128 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA230468661 rs887777439 |
129 | I>V | No |
ClinGen Ensembl |
|
|
rs766001109 CA6348844 |
130 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383183523 rs1246461022 |
131 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383183530 rs1193366819 |
132 | Y>* | No |
ClinGen gnomAD |
|
|
rs1369374335 CA383183539 |
133 | H>Q | No |
ClinGen gnomAD |
|
|
rs1417463169 CA383183535 |
133 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553938298 CA230468677 |
137 | E>D | No |
ClinGen Ensembl |
|
|
CA383183569 rs1171678619 |
138 | L>F | No |
ClinGen gnomAD |
|
|
CA6348858 rs770279919 |
140 | D>G | No |
ClinGen ExAC |
|
|
rs772764331 CA6348859 |
141 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA383183601 rs1166858649 |
141 | A>S | No |
ClinGen gnomAD |
|
|
CA383183608 rs1200688541 |
142 | G>A | No |
ClinGen gnomAD |
|
|
rs1200688541 CA383183609 |
142 | G>E | No |
ClinGen gnomAD |
|
|
CA383183625 rs1266503248 |
145 | L>H | No |
ClinGen TOPMed |
|
|
rs1399291572 CA383183638 |
147 | A>G | No |
ClinGen gnomAD |
|
|
rs1298350913 CA383183657 COSM354998 |
150 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA230469162 rs201505158 |
150 | M>V | No |
ClinGen Ensembl |
|
|
CA383183661 rs1341824663 |
151 | I>V | No |
ClinGen gnomAD |
|
|
COSM1604272 rs762426172 CA6348860 |
158 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs570752366 CA383183718 |
160 | R>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1565345324 CA383183756 |
166 | Y>C | No |
ClinGen Ensembl |
|
|
rs1591373835 CA383183754 |
166 | Y>H | No |
ClinGen Ensembl |
|
|
CA230469737 rs867655938 |
179 | T>N | No |
ClinGen Ensembl |
|
|
rs1363513535 CA383183875 |
181 | Y>C | No |
ClinGen gnomAD |
|
|
rs781474364 CA6348876 |
182 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141288652 CA6348877 |
182 | M>T | No |
ClinGen ESP ExAC |
|
|
rs781474364 CA230469738 |
182 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 183 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6348879 rs773675482 |
184 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs770331166 CA6348878 |
184 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6348880 rs762477399 |
185 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770294548 CA6348881 |
189 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6348882 rs774070587 |
194 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755425098 CA230469751 |
198 | C>G | No |
ClinGen Ensembl |
|
|
CA6348883 rs759046234 |
202 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA383184106 rs1220693237 |
213 | V>A | No |
ClinGen gnomAD |
|
|
CA230470025 rs530840463 |
217 | N>I | No |
ClinGen TOPMed |
|
|
CA383184142 rs1490811111 |
219 | I>L | No |
ClinGen gnomAD |
|
|
rs1477981119 CA383184172 |
223 | V>A | No |
ClinGen gnomAD |
|
|
CA6348899 rs773803028 |
223 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1285254273 CA383184183 |
225 | V>L | No |
ClinGen TOPMed |
|
|
CA383184181 rs1285254273 |
225 | V>M | No |
ClinGen TOPMed |
|
|
rs1565346437 CA383184201 |
228 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 230 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 230 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773401014 CA6348904 COSM466531 |
231 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs776713094 CA383184221 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6348905 rs776713094 |
231 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418398244 CA383184236 |
233 | S>F | No |
ClinGen gnomAD |
|
|
CA6348906 rs139072499 |
234 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6348907 rs188651061 |
235 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383184245 rs1258974707 |
235 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1402096939 CA383184249 |
236 | I>V | No |
ClinGen gnomAD |
|
|
rs751638595 CA6348908 |
237 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383184285 rs1220748968 |
241 | C>Y | No |
ClinGen TOPMed |
|
|
CA6348909 rs755051554 |
245 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6348912 rs756480861 |
249 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214351260 CA383184340 |
249 | I>T | No |
ClinGen gnomAD |
|
|
rs375715516 CA6348911 |
249 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1488297068 RCV001207282 CA383184359 |
251 | S>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA6348915 rs757765136 |
258 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs749650954 CA6348914 |
258 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs370378297 CA383184532 |
262 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370378297 CA6348941 |
262 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383184568 rs1444253478 |
267 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6348942 rs201926144 |
268 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1439359165 CA383184571 |
268 | M>V | No |
ClinGen gnomAD |
|
|
CA230477048 rs952948983 |
269 | A>T | No |
ClinGen Ensembl |
|
|
CA383184600 RCV001071589 rs1382914261 |
272 | G>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA383184599 rs1382914261 |
272 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 273 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225392683 CA383184622 |
276 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1225392683 CA383184623 |
276 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1298567290 CA383184632 |
277 | C>S | No |
ClinGen gnomAD |
|
|
rs747923274 CA6348944 |
278 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1170078484 CA383184658 |
281 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 281 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6348946 rs773032355 |
284 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1198468444 CA383184700 |
287 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6348947 rs762878130 |
287 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6348949 rs373275735 |
292 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383184744 rs1433793515 |
293 | Q>R | No |
ClinGen gnomAD |
|
|
rs760724999 CA6348950 |
296 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1421806498 CA383184766 |
296 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1421806498 CA383184765 |
296 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA383184779 rs1169784798 |
298 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1565347451 CA383184784 |
299 | F>L | No |
ClinGen Ensembl |
|
|
CA6348952 rs534590797 COSM924544 |
300 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6348951 rs764341467 |
300 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376205783 CA6348955 |
304 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383184820 rs1315739768 |
305 | L>V | No |
ClinGen gnomAD |
|
|
CA6348956 rs759030284 |
306 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA383184864 rs1309572319 |
312 | T>N | No |
ClinGen gnomAD |
|
|
rs1265328863 CA383184869 |
313 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6348958 rs751154270 |
315 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751154270 CA383184879 |
315 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6348959 rs754494187 |
315 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747776882 CA6348961 |
316 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763378756 CA6348980 |
323 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767022907 CA6348981 |
324 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383184958 rs1318369171 |
326 | W>R | No |
ClinGen gnomAD |
|
|
rs1346644322 CA383184971 |
327 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 327 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383184996 rs1283981030 |
331 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 331 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6348983 rs754545101 |
332 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA230477658 rs766040991 |
335 | D>Y | No |
ClinGen Ensembl |
|
|
CA383185027 rs1352458961 |
336 | P>L | No |
ClinGen TOPMed |
|
|
CA383185068 rs1291964212 |
342 | N>S | No |
ClinGen TOPMed |
|
|
CA383185078 rs1414783881 |
343 | I>M | No |
ClinGen TOPMed |
|
|
rs1286415312 CA383185091 |
345 | I>M | No |
ClinGen gnomAD |
|
|
rs1406086856 CA383185086 |
345 | I>V | No |
ClinGen gnomAD |
|
|
rs749125992 CA6348988 |
357 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1461562886 CA383185191 |
360 | Y>* | No |
ClinGen gnomAD |
|
|
CA6348989 rs370684336 |
361 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 366 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409454740 COSM924548 CA383185241 |
368 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1158839120 CA383185261 |
370 | M>I | No |
ClinGen TOPMed |
|
|
rs1383757003 CA383185260 |
370 | M>T | No |
ClinGen TOPMed |
|
|
rs768728208 CA6348992 |
371 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA6348993 rs776828098 |
372 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745660714 CA6349010 |
379 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA383185380 rs1198137462 |
385 | A>G | No |
ClinGen gnomAD |
|
|
CA6349012 rs779823661 |
386 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383185383 rs1288329292 COSM541517 |
386 | R>W | lung oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748290617 CA6349013 |
387 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1229385887 CA383185408 |
390 | I>F | No |
ClinGen TOPMed |
|
|
rs200624628 CA6349015 |
394 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6349016 rs749450210 |
397 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771270993 CA6349017 |
400 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA230478660 rs140314352 |
402 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA6349019 rs759959959 |
403 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 408 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206079284 CA383185552 |
410 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 411 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383185566 rs1390353284 |
412 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6349034 rs778063393 |
414 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263249225 CA383185630 |
421 | G>A | No |
ClinGen TOPMed |
|
|
rs1002320867 CA230479231 |
424 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383185670 rs1486026505 |
428 | T>I | No |
ClinGen gnomAD |
|
|
rs772279428 CA6349039 |
430 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA230479238 rs896331812 |
435 | I>T | No |
ClinGen TOPMed |
|
|
CA383185718 rs1254521680 |
435 | I>V | No |
ClinGen gnomAD |
|
|
rs1317203397 CA383185728 |
436 | S>T | No |
ClinGen gnomAD |
|
|
rs866202820 CA230479242 |
437 | R>C | No |
ClinGen gnomAD |
|
|
rs776079118 CA383185735 |
437 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383185741 rs1383636042 |
438 | P>L | No |
ClinGen TOPMed |
|
|
CA6349041 rs144727918 |
439 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383185754 rs1326158138 |
440 | K>N | No |
ClinGen gnomAD |
|
|
rs1004118404 CA230479261 |
440 | K>R | No |
ClinGen TOPMed |
|
|
CA230479271 COSM924549 rs766473308 |
442 | S>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6349043 rs766473308 |
442 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383185799 rs1364389134 |
446 | Q>R | No |
ClinGen gnomAD |
|
|
CA230479275 rs548644525 |
447 | D>Y | No |
ClinGen gnomAD |
|
|
CA383185822 rs1451701142 |
450 | Y>H | No |
ClinGen gnomAD |
|
|
CA383185831 rs1337122391 |
451 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383185829 rs1337122391 |
451 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA383185841 rs1346744909 |
452 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA230479279 rs1131860 |
454 | N>I | No |
ClinGen TOPMed |
|
|
CA230479283 rs1054819936 |
454 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1131860 CA383185853 |
454 | N>S | No |
ClinGen TOPMed |
|
|
CA383185896 rs1444459807 |
458 | S>R | No |
ClinGen TOPMed |
|
|
rs1223676893 CA383185921 |
462 | L>Q | No |
ClinGen gnomAD |
|
|
rs1344557860 CA383185920 |
462 | L>V | No |
ClinGen gnomAD |
|
|
CA383185929 rs1265403837 |
463 | V>G | No |
ClinGen gnomAD |
|
|
CA383185938 rs1316398317 |
464 | M>I | No |
ClinGen gnomAD |
|
|
rs777082152 CA6349071 |
465 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1252446068 CA383185949 |
466 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA230479447 rs898372644 |
469 | I>V | No |
ClinGen gnomAD |
|
|
CA6349072 rs761334326 |
470 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6349073 rs769236731 |
475 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201784826 CA383186012 |
476 | T>P | No |
ClinGen gnomAD |
|
|
rs894836036 CA230479451 |
479 | T>I | No |
ClinGen TOPMed |
|
|
CA383186067 rs1157342644 |
483 | Y>* | No |
ClinGen TOPMed |
|
|
CA230479455 rs867492227 |
486 | P>L | No |
ClinGen Ensembl |
|
|
CA383186121 rs1355106293 |
493 | R>C | No |
ClinGen gnomAD |
|
|
CA6349077 rs774060809 |
493 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383186124 rs774060809 |
493 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767597213 CA6349079 |
499 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752636287 CA6349080 |
500 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1284763121 CA383186176 |
501 | I>T | No |
ClinGen gnomAD |
|
|
rs757430713 CA6349081 |
506 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1246168272 CA383186213 |
506 | R>Q | No |
ClinGen TOPMed |
|
|
CA6349083 rs750513320 |
512 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6349084 rs576205252 |
513 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs576205252 CA383186260 |
513 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6349085 rs142534868 |
513 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383186267 rs1291144245 |
514 | H>R | No |
ClinGen gnomAD |
|
|
rs1157619797 CA383186288 |
517 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs142425975 CA6349086 |
518 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383186315 rs1248342159 |
519 | D>V | No |
ClinGen gnomAD |
|
|
rs1283972006 CA383186319 |
520 | A>T | No |
ClinGen gnomAD |
|
|
CA6349101 rs376733157 |
520 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767562058 CA230479720 |
521 | K>T | No |
ClinGen Ensembl |
|
|
rs764115084 CA6349102 |
523 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6349105 rs766530423 |
534 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383186429 rs1242507778 |
535 | M>T | No |
ClinGen gnomAD |
|
|
CA383186450 COSM1227936 rs1445153736 |
538 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA230479739 rs868534988 |
542 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 548 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383186561 rs1405078807 |
554 | R>* | No |
ClinGen gnomAD |
|
|
CA6349107 rs755340334 COSM1288263 |
554 | R>Q | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA383186567 rs1292167573 |
555 | V>A | No |
ClinGen gnomAD |
|
|
rs781600361 CA6349108 |
555 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA230479751 rs368486088 |
556 | G>R | No |
ClinGen ESP |
|
|
CA6349127 rs753097601 |
559 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756427817 CA6349128 |
560 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6349131 rs199831028 |
562 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199831028 CA6349130 |
562 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383186620 rs1163859872 |
562 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778557353 CA383186636 |
564 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs745358507 CA6349133 |
566 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs944187026 CA230479851 |
567 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 568 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383186673 rs1480543161 |
570 | M>V | No |
ClinGen TOPMed |
|
|
rs879248545 CA230479856 |
572 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383186702 rs1436726925 |
574 | D>N | No |
ClinGen TOPMed |
|
|
rs779822984 CA6349135 |
574 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6349137 rs768438370 |
576 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 582 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383186771 rs1198184862 |
584 | G>D | No |
ClinGen gnomAD |
|
|
CA383186768 rs1479261913 |
584 | G>S | No |
ClinGen gnomAD |
|
|
CA6349139 rs761876541 |
591 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6349159 rs779863850 |
595 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 596 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383186871 rs1315979409 |
597 | L>F | No |
ClinGen gnomAD |
|
|
CA383186869 COSM924550 rs1315979409 |
597 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA383186900 rs1228105251 |
601 | R>Q | No |
ClinGen gnomAD |
|
|
CA6349161 rs773705412 |
601 | R>W | No |
ClinGen ExAC |
|
|
rs1252974712 CA383186916 |
604 | G>R | No |
ClinGen gnomAD |
|
|
CA6349162 rs781099585 |
606 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383186949 rs1565352801 COSM924551 |
609 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1345720909 CA383186967 |
611 | H>R | No |
ClinGen TOPMed |
|
|
rs1320040533 CA383186973 |
612 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 614 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383186990 rs1392524982 |
614 | E>G | No |
ClinGen TOPMed |
|
|
rs1005224861 CA230481102 |
616 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383187040 rs772084737 |
621 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6349167 rs772084737 |
621 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775696721 CA6349168 |
625 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs763609978 CA6349170 |
627 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6349169 rs761028325 |
627 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs777102471 CA6349171 COSM230242 |
628 | R>C | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772732156 CA230481121 |
628 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs772732156 CA383187083 |
628 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs138197752 CA6349172 |
629 | E>A | No |
ClinGen ESP ExAC |
|
|
rs766824760 CA230481123 |
629 | E>K | No |
ClinGen Ensembl |
|
|
rs1016570277 CA230481127 |
632 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1322287028 CA383187120 |
635 | L>F | No |
ClinGen gnomAD |
|
|
CA383187128 rs1272983910 |
636 | N>S | No |
ClinGen TOPMed |
|
|
CA6349177 rs751016260 |
638 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6349178 rs754709120 |
640 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6349179 rs369357859 |
642 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748004653 CA383187202 |
646 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1271905752 CA383187204 |
646 | R>H | No |
ClinGen TOPMed |
|
|
rs748004653 CA6349180 |
646 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383187220 rs1350913894 |
649 | Q>K | No |
ClinGen gnomAD |
|
|
CA383187229 rs755815010 |
650 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6349181 rs755815010 |
650 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6349198 rs144877028 |
656 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752231793 CA6349199 RCV000817585 |
656 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6349200 rs755908798 |
657 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6349202 rs138779101 |
658 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777613262 CA6349201 |
658 | P>S | No |
ClinGen ExAC |
|
|
rs778795647 CA6349204 |
662 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6349205 rs778795647 |
662 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA383187326 rs1473701645 |
664 | R>* | No |
ClinGen gnomAD |
|
|
CA383187327 rs1197473866 |
664 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1219974441 CA383187338 |
666 | A>T | No |
ClinGen TOPMed |
|
|
CA6349207 rs781493562 |
666 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6349209 rs770124052 |
669 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1277841940 CA383187394 |
673 | F>L | No |
ClinGen TOPMed |
|
|
CA6349212 rs771595862 |
676 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6349211 rs763378764 |
676 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1310348986 CA383187431 |
679 | E>D | No |
ClinGen TOPMed |
|
|
CA230481550 rs944764330 |
679 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6349215 rs766872768 |
682 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs752248846 CA6349216 |
689 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1303862081 CA383187496 |
689 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 695 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383187556 rs1243944101 |
696 | D>H | No |
ClinGen gnomAD |
|
|
rs774925673 CA6349230 |
697 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383187567 rs1360441490 |
698 | D>N | No |
ClinGen gnomAD |
|
|
CA383187584 rs1407515120 |
700 | R>* | No |
ClinGen TOPMed |
|
|
rs1297393794 CA383187585 |
700 | R>Q | No |
ClinGen gnomAD |
|
|
CA6349232 rs772620803 |
702 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 703 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591383337 CA383187609 |
704 | R>K | No |
ClinGen Ensembl |
|
|
rs201982930 CA6349233 |
704 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA230481796 rs1003807960 |
705 | T>I | No |
ClinGen Ensembl |
2 associated diseases with P46977
[MIM: 615596]: Congenital disorder of glycosylation 1W (CDG1W)
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:23842455}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619714]: Congenital disorder of glycosylation 1W, autosomal dominant (CDG1WAD)
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1WAD patients show variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features. Some have impaired intellectual development. Additional features include increased muscle tone and muscle cramps. {ECO:0000269|PubMed:34653363}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:23842455}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1WAD patients show variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features. Some have impaired intellectual development. Additional features include increased muscle tone and muscle cramps. {ECO:0000269|PubMed:34653363}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P46977
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P46977 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.99.18 | Transferring other glycosyl groups |
| Subcellular Localization |
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| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| oligosaccharyltransferase complex | A protein complex that is found in the endoplasmic reticulum membrane of eukaryotes and transfers lipid-linked oligosaccharide precursor to asparagine residues on nascent proteins. In yeast, the complex includes at least nine different subunits, whereas in mammalian cells at least three different forms of the complex have been detected. |
| oligosaccharyltransferase III complex | An oligosaccharyltransferase (OST) complex that contains the seven polypeptides found in OST complex I, plus heterotrimeric Sec61alpha-beta-gamma and the tetrameric TRAP complex. Of the three forms of mammalian OST complexes identified, the OSTIII complex has the strongest affinity for ribosomes. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| dolichyl-diphosphooligosaccharide-protein glycotransferase activity | Catalysis of the reaction: dolichyl diphosphooligosaccharide + protein L-asparagine = dolichyl diphosphate + a glycoprotein with the oligosaccharide chain attached by glycosylamine linkage to protein L-asparagine. |
| metal ion binding | Binding to a metal ion. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| co-translational protein modification | The process of covalently altering one or more amino acids in a protein after translation has begun but before the protein has been released from the ribosome. |
| post-translational protein modification | The process of covalently altering one or more amino acids in a protein after the protein has been completely translated and released from the ribosome. |
| protein N-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. |
| protein N-linked glycosylation via asparagine | The glycosylation of protein via the N4 atom of peptidyl-asparagine forming N4-glycosyl-L-asparagine; the most common form is N-acetylglucosaminyl asparagine; N-acetylgalactosaminyl asparagine and N4 glucosyl asparagine also occur. This modification typically occurs in extracellular peptides with an N-X-(ST) motif. Partial modification has been observed to occur with cysteine, rather than serine or threonine, in the third position; secondary structure features are important, and proline in the second or fourth positions inhibits modification. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P39007 | STT3 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q2KJI2 | STT3A | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A | Bos taurus (Bovine) | PR |
| Q8TCJ2 | STT3B | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B | Homo sapiens (Human) | PR |
| Q3TDQ1 | Stt3b | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B | Mus musculus (Mouse) | PR |
| P46978 | Stt3a | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A | Mus musculus (Mouse) | PR |
| Q7XQ88 | STT3B | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B | Oryza sativa subsp japonica (Rice) | PR |
| P46975 | stt-3 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit stt-3 | Caenorhabditis elegans | PR |
| Q93ZY3 | STT3A | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FX21 | STT3B | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTKFGFLRLS | YEKQDTLLKL | LILSMAAVLS | FSTRLFAVLR | FESVIHEFDP | YFNYRTTRFL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AEEGFYKFHN | WFDDRAWYPL | GRIIGGTIYP | GLMITSAAIY | HVLHFFHITI | DIRNVCVFLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PLFSSFTTIV | TYHLTKELKD | AGAGLLAAAM | IAVVPGYISR | SVAGSYDNEG | IAIFCMLLTY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YMWIKAVKTG | SICWAAKCAL | AYFYMVSSWG | GYVFLINLIP | LHVLVLMLTG | RFSHRIYVAY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CTVYCLGTIL | SMQISFVGFQ | PVLSSEHMAA | FGVFGLCQIH | AFVDYLRSKL | NPQQFEVLFR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SVISLVGFVL | LTVGALLMLT | GKISPWTGRF | YSLLDPSYAK | NNIPIIASVS | EHQPTTWSSY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YFDLQLLVFM | FPVGLYYCFS | NLSDARIFII | MYGVTSMYFS | AVMVRLMLVL | APVMCILSGI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GVSQVLSTYM | KNLDISRPDK | KSKKQQDSTY | PIKNEVASGM | ILVMAFFLIT | YTFHSTWVTS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EAYSSPSIVL | SARGGDGSRI | IFDDFREAYY | WLRHNTPEDA | KVMSWWDYGY | QITAMANRTI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LVDNNTWNNT | HISRVGQAMA | STEEKAYEIM | RELDVSYVLV | IFGGLTGYSS | DDINKFLWMV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RIGGSTDTGK | HIKENDYYTP | TGEFRVDREG | SPVLLNCLMY | KMCYYRFGQV | YTEAKRPPGF |
| 670 | 680 | 690 | 700 | ||
| DRVRNAEIGN | KDFELDVLEE | AYTTEHWLVR | IYKVKDLDNR | GLSRT |