Q8TCJ2
PR
Gene name |
STT3B |
Protein name |
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B |
Names |
Oligosaccharyl transferase subunit STT3B, STT3-B, Source of immunodominant MHC-associated peptides homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:201595 |
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
2 structures for Q8TCJ2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6S7T | EM | 350 A | A | 1-826 | PDB |
| AF-Q8TCJ2-F1 | Predicted | AlphaFoldDB |
403 variants for Q8TCJ2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA351830904 rs1250170448 RCV001346781 |
4 | P>L | STT3B-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000871469 CA2294879 rs527396203 |
46 | G>S | STT3B-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2294977 RCV000626086 rs780102016 |
207 | I>V | STT3B-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA72539702 RCV000807197 rs1008042824 |
253 | C>S | STT3B-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2295064 RCV000709840 RCV002534482 rs141238380 |
299 | I>V | STT3B-congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053313 rs559861697 CA2295194 |
448 | I>V | STT3B-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs949533229 CA72518587 RCV001247933 |
691 | R>Q | STT3B-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000811239 rs139208333 CA2295399 |
789 | N>S | STT3B-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2294843 rs764441079 |
3 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1186222 rs1460014436 CA351830909 |
5 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765561784 CA2294846 |
6 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2294849 rs781154176 |
7 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754865944 CA2294848 |
7 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756137814 CA351830925 CA2294851 |
8 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2294850 rs747909324 |
8 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA72669574 rs917752594 |
9 | S>G | No |
ClinGen TOPMed |
|
|
CA351830926 rs917752594 |
9 | S>R | No |
ClinGen TOPMed |
|
|
CA351830938 rs1575399079 |
10 | K>M | No |
ClinGen Ensembl |
|
|
CA2294852 rs777560756 |
11 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72669618 rs777560756 |
11 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72669588 rs966597028 |
11 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs770317151 CA2294854 |
13 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs770317151 CA351830955 |
13 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs745544339 CA2294856 |
15 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775835448 CA2294858 |
16 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573987136 CA351830986 |
18 | S>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs573987136 CA72669662 |
18 | S>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA351830983 rs1303371160 |
18 | S>T | No |
ClinGen TOPMed |
|
|
CA2294860 rs764719664 |
21 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs541845381 CA2294861 |
21 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351831005 rs541845381 |
21 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761989050 CA2294862 |
22 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750479085 CA2294864 |
23 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA351831024 rs1431257226 |
24 | M>I | No |
ClinGen TOPMed |
|
|
CA2294865 rs758722499 |
24 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA351831027 rs1426753258 |
25 | A>T | No |
ClinGen gnomAD |
|
|
CA351831045 rs1403658593 |
28 | N>D | No |
ClinGen gnomAD |
|
|
CA2294868 rs755861870 |
28 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA351831061 rs1201721189 |
30 | R>P | No |
ClinGen TOPMed |
|
|
CA351831070 rs1415821617 |
31 | H>Q | No |
ClinGen TOPMed |
|
|
rs559864915 CA2294870 |
31 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1268634826 CA351831081 |
33 | H>L | No |
ClinGen TOPMed |
|
|
rs757170322 CA2294871 |
33 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351831085 rs916630766 |
34 | H>D | No |
ClinGen TOPMed |
|
|
rs916630766 CA72669778 |
34 | H>N | No |
ClinGen TOPMed |
|
|
CA351831087 rs1484171472 |
34 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2294873 CA2294874 rs745319362 |
37 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483374018 CA351831119 |
39 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs777239381 CA2294878 |
44 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350699081 CA351831156 |
45 | A>T | No |
ClinGen TOPMed |
|
|
rs527396203 CA2294880 |
46 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351831175 rs1258715301 |
48 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1258715301 CA351831177 |
48 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351831194 rs1575399242 |
51 | P>R | No |
ClinGen Ensembl |
|
|
CA72669807 rs1037500037 |
53 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA72669814 rs900382616 |
54 | A>V | No |
ClinGen TOPMed |
|
|
CA2294882 rs763113809 |
55 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763113809 CA351831215 |
55 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181427766 CA351831220 |
56 | A>P | No |
ClinGen TOPMed |
|
|
rs1181427766 CA351831219 |
56 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 62 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545539200 CA72669839 |
65 | P>L | No |
ClinGen 1000Genomes |
|
|
rs751804567 CA2294884 |
66 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351831380 rs1484819748 |
70 | S>W | No |
ClinGen gnomAD |
|
|
CA2294886 rs763819212 |
72 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA351831417 rs1269744838 |
74 | F>L | No |
ClinGen gnomAD |
|
|
rs1341681413 CA351831445 |
76 | I>V | No |
ClinGen TOPMed |
|
|
CA351831459 rs1289544358 |
77 | L>V | No |
ClinGen gnomAD |
|
|
rs1210264930 CA351831481 |
78 | F>L | No |
ClinGen gnomAD |
|
|
CA351831490 rs1444994022 |
79 | L>Q | No |
ClinGen gnomAD |
|
|
rs1269007117 CA351831487 |
79 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749991781 CA2294890 |
82 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA351831538 rs1459140990 |
83 | A>G | No |
ClinGen TOPMed |
|
|
CA351831548 rs1575399333 |
84 | G>D | No |
ClinGen Ensembl |
|
|
rs779722092 CA2294892 |
84 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1424396154 CA351831580 |
86 | S>T | No |
ClinGen gnomAD |
|
|
rs1294543005 CA351831598 |
87 | S>L | No |
ClinGen gnomAD |
|
|
CA351831615 rs1393138215 |
89 | L>F | No |
ClinGen gnomAD |
|
|
CA351831618 rs1158141423 |
89 | L>H | No |
ClinGen TOPMed |
|
|
rs1365972051 CA351831645 |
92 | V>I | No |
ClinGen gnomAD |
|
|
CA351831686 rs1312802453 |
95 | F>C | No |
ClinGen gnomAD |
|
|
CA2294898 rs773854046 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA72521094 rs1028096653 |
108 | Y>C | No |
ClinGen TOPMed |
|
|
CA2294921 rs772238681 |
111 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952640283 CA72521099 |
112 | H>Y | No |
ClinGen TOPMed |
|
|
rs775070958 CA351813846 |
113 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2294922 rs775070958 |
113 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761552097 CA351813881 |
116 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761552097 CA2294923 |
116 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288824366 CA351813892 |
117 | H>R | No |
ClinGen gnomAD |
|
|
rs772938941 CA2294925 |
119 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA351813931 rs1428442420 |
120 | Y>C | No |
ClinGen TOPMed |
|
|
rs1171193780 CA351813941 |
121 | E>K | No |
ClinGen TOPMed |
|
|
CA2294926 rs762906069 |
123 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540782850 CA2294928 |
124 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2294927 rs540782850 |
124 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 128 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767118074 CA2294930 |
129 | R>K | No |
ClinGen ExAC |
|
|
CA2294931 rs752375633 |
129 | R>S | No |
ClinGen ExAC |
|
|
CA351814168 rs1479982008 |
130 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200457651 CA2294934 |
131 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1169100350 CA351814456 |
142 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2294949 rs759021325 |
147 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs767080550 CA2294950 |
149 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs755833826 CA2294953 |
150 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755833826 CA2294952 |
150 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351814553 rs368969973 |
152 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2294954 rs368969973 |
152 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351814563 rs1363775875 |
153 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757689083 CA2294955 |
154 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA351814628 rs1298956272 |
157 | L>F | No |
ClinGen gnomAD |
|
|
CA2294958 rs140306636 |
162 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322713584 CA351814706 |
163 | T>I | No |
ClinGen gnomAD |
|
|
CA351814712 rs1223992368 |
164 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 164 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72523692 rs71323052 |
167 | R>K | No |
ClinGen Ensembl |
|
|
CA72523701 rs71323053 |
168 | D>N | No |
ClinGen Ensembl |
|
|
rs747021223 CA2294960 |
169 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1438170970 CA351814840 |
174 | A>V | No |
ClinGen TOPMed |
|
|
CA2294965 COSM185385 rs773972695 |
179 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1406907362 CA351814922 |
182 | S>A | No |
ClinGen gnomAD |
|
|
rs1280369912 CA351814937 |
183 | I>M | No |
ClinGen TOPMed |
|
|
rs759549093 CA2294966 |
183 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1387511452 CA351814946 |
184 | S>F | No |
ClinGen gnomAD |
|
|
CA2294967 rs771842134 |
185 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1322054500 CA351814984 |
188 | L>H | No |
ClinGen gnomAD |
|
|
CA2294968 rs775083191 |
189 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs71323054 CA72523841 |
191 | E>K | No |
ClinGen Ensembl |
|
|
CA2294970 rs376965375 |
192 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351815042 rs1380301371 |
194 | N>D | No |
ClinGen gnomAD |
|
|
rs753508197 CA2294971 |
197 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1230427294 CA351815067 |
197 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1209603060 CA351815071 |
198 | G>R | No |
ClinGen gnomAD |
|
|
CA351815100 rs1238052753 |
202 | A>V | No |
ClinGen gnomAD |
|
|
rs758947705 CA2294975 |
203 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2294976 rs142677107 |
205 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755043994 CA351815133 |
207 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA351815141 rs1404478707 |
209 | P>A | No |
ClinGen TOPMed |
|
|
CA351815200 rs1457386357 |
217 | A>S | No |
ClinGen gnomAD |
|
|
CA351815287 rs1413445396 |
225 | I>V | No |
ClinGen gnomAD |
|
|
CA351815320 rs1334049146 |
228 | F>S | No |
ClinGen gnomAD |
|
|
rs555260194 CA2295003 |
239 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1264810676 CA351816588 |
241 | V>A | No |
ClinGen gnomAD |
|
|
CA2295004 rs777848759 |
241 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1199148520 CA351816601 |
242 | K>I | No |
ClinGen gnomAD |
|
|
rs745745863 CA2295005 |
243 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199996092 CA72539683 |
247 | F>L | No |
ClinGen Ensembl |
|
|
rs948082027 CA72539691 |
250 | M>I | No |
ClinGen TOPMed |
|
|
CA2295008 rs746961657 |
250 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567611130 CA2295009 |
257 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351816800 rs1170942509 |
257 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 263 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465881449 CA351817158 |
265 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs964004762 CA72543027 |
268 | F>Y | No |
ClinGen TOPMed |
|
|
CA2295037 rs775832467 |
269 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs764101279 CA2295039 |
271 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232767889 CA351817195 |
271 | N>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 272 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1030631008 CA72543104 |
279 | V>G | No |
ClinGen TOPMed |
|
|
CA351817252 rs1399372726 |
280 | L>V | No |
ClinGen TOPMed |
|
|
rs977245593 CA72543106 |
284 | Q>R | No |
ClinGen Ensembl |
|
|
CA2295043 rs751458590 |
285 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455448701 CA351817353 |
288 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2295044 rs368706648 |
288 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351817379 rs1314522776 |
289 | R>S | No |
ClinGen gnomAD |
|
|
CA351817412 rs1227349406 |
292 | I>V | No |
ClinGen gnomAD |
|
|
CA351817552 rs1312281368 |
293 | A>V | No |
ClinGen gnomAD |
|
|
rs1283133155 CA351817564 |
295 | S>N | No |
ClinGen gnomAD |
|
|
rs767248740 CA2295062 |
296 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2295063 rs375479861 |
296 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351817585 rs1252801725 RCV000731276 |
298 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs911095503 CA72556441 |
299 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351817597 rs1175408016 |
300 | V>A | No |
ClinGen gnomAD |
|
|
CA2295065 rs777753460 |
300 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA72556461 rs768357801 |
302 | L>F | No |
ClinGen Ensembl |
|
|
CA2295066 rs753416887 |
303 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1375091494 CA351817636 |
306 | M>I | No |
ClinGen TOPMed |
|
|
CA351817632 rs1169058192 |
306 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72556483 rs769653841 |
314 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs138705864 CA2295068 |
316 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775446748 CA72556485 |
323 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 324 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 326 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351817788 rs1252026710 |
327 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753757676 CA2295085 |
335 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351817842 rs753757676 |
335 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289417531 CA351817878 |
340 | L>M | No |
ClinGen gnomAD |
|
|
rs757140405 CA2295086 |
342 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2295087 rs764761898 |
343 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268874500 CA351817912 |
345 | T>I | No |
ClinGen TOPMed |
|
|
rs749865173 CA2295088 |
346 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA351817921 rs868830206 |
347 | Q>E | No |
ClinGen gnomAD |
|
|
rs1014856045 CA72558307 |
347 | Q>H | No |
ClinGen TOPMed |
|
|
CA72558301 rs868830206 |
347 | Q>K | No |
ClinGen gnomAD |
|
|
CA72558309 rs978927985 |
354 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 354 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 355 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351817982 rs1261801963 |
355 | L>W | No |
ClinGen gnomAD |
|
|
rs199702657 CA72558343 |
356 | G>D | No |
ClinGen 1000Genomes |
|
|
rs757997959 CA2295089 |
356 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA351817986 rs757997959 |
356 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs779739661 CA2295090 |
357 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2295091 rs149441473 |
358 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 358 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319534710 CA351818006 |
360 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35863057 CA72558366 |
364 | V>G | No |
ClinGen Ensembl |
|
|
rs1347529045 CA351818048 |
367 | S>G | No |
ClinGen gnomAD |
|
|
CA351818050 rs1446279934 |
367 | S>N | No |
ClinGen gnomAD |
|
|
CA351818051 rs1446279934 |
367 | S>T | No |
ClinGen gnomAD |
|
|
CA351818055 rs1477841295 |
368 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA72558375 rs781596994 |
369 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759776467 CA2295094 |
370 | Y>* | No |
ClinGen ExAC |
|
|
rs1478247903 CA351818071 |
370 | Y>C | No |
ClinGen TOPMed |
|
|
CA2295095 rs748686430 |
371 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770359280 CA2295096 |
372 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770359280 CA72558402 |
372 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72558409 rs201657949 |
374 | T>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1459883256 CA351818118 |
376 | Y>H | No |
ClinGen TOPMed |
|
|
CA2295125 rs773102441 |
384 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs199778452 CA2295124 |
384 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74346226 CA2295126 |
385 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA2295128 rs765934760 |
386 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs759242175 CA2295130 |
387 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2295131 rs767267914 |
389 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371101429 CA351818223 |
391 | G>E | No |
ClinGen TOPMed |
|
|
rs1463182373 CA351818379 |
396 | H>R | No |
ClinGen gnomAD |
|
|
rs770240042 CA72560470 |
400 | I>M | No |
ClinGen Ensembl |
|
|
CA2295154 rs757800040 |
408 | P>S | No |
ClinGen ExAC |
|
|
rs1307726012 CA351818469 |
410 | T>A | No |
ClinGen TOPMed |
|
|
CA351818513 rs1195864010 |
416 | F>V | No |
ClinGen gnomAD |
|
|
CA351818557 rs1176884329 |
422 | V>A | No |
ClinGen TOPMed |
|
|
rs1379526780 CA351818553 |
422 | V>I | No |
ClinGen TOPMed |
|
|
rs935601300 CA72560488 |
423 | C>Y | No |
ClinGen TOPMed |
|
|
CA351818569 rs1165953656 |
424 | T>N | No |
ClinGen gnomAD |
|
|
CA2295159 rs747254166 |
426 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA72560513 rs989482831 |
427 | A>S | No |
ClinGen Ensembl |
|
|
CA2295161 rs372395537 |
433 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749025136 CA2295162 |
435 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2295163 rs201775500 |
436 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2295164 rs774126425 |
437 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2295165 rs572795748 |
438 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1559389195 CA351818672 |
439 | E>G | No |
ClinGen Ensembl |
|
|
CA351813499 rs1384624441 |
444 | A>T | No |
ClinGen gnomAD |
|
|
rs1044406953 CA72516784 |
447 | A>T | No |
ClinGen TOPMed |
|
|
rs896848010 CA72516786 |
450 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 452 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351813566 rs1340516253 |
454 | A>S | No |
ClinGen gnomAD |
|
|
rs1252156465 CA351813601 |
459 | R>Q | No |
ClinGen gnomAD |
|
|
rs749665192 CA72516788 |
468 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2295196 rs765539767 |
469 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773524257 CA2295197 |
470 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 471 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766813650 CA2295199 |
474 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2295200 rs751705264 |
475 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1287197511 CA351813783 |
482 | H>Q | No |
ClinGen gnomAD |
|
|
CA351813793 rs1355979541 |
483 | Y>C | No |
ClinGen gnomAD |
|
|
CA351813821 rs1455933205 |
485 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2295203 rs752886119 |
486 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1490911382 CA351813842 |
487 | D>N | No |
ClinGen TOPMed |
|
|
CA2295205 rs369285498 |
495 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750189081 CA2295206 |
499 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs758472135 CA2295207 |
501 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351814038 rs1468989421 |
503 | D>G | No |
ClinGen gnomAD |
|
|
CA351814047 rs1354329053 |
504 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 505 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406624964 CA351814255 |
516 | K>E | No |
ClinGen gnomAD |
|
|
rs751562865 CA2295228 |
517 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751562865 COSM1485087 CA351814268 |
517 | V>M | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754901414 CA2295229 |
521 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 523 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413376821 CA351814323 |
524 | Q>K | No |
ClinGen gnomAD |
|
|
CA351814363 rs1322260996 |
529 | E>K | No |
ClinGen Ensembl |
|
|
rs769389290 CA2295232 |
534 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs771309912 CA2295235 |
535 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2295234 rs561872625 |
535 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1033007030 CA72517318 |
536 | K>R | No |
ClinGen TOPMed |
|
|
CA72517325 rs1005310805 |
538 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351814543 rs1437752985 |
546 | L>V | No |
ClinGen gnomAD |
|
|
CA351814585 rs1286132005 |
548 | M>I | No |
ClinGen TOPMed |
|
|
CA72517339 rs1018068238 |
548 | M>V | No |
ClinGen TOPMed |
|
|
rs1238760013 CA351814595 |
549 | M>T | No |
ClinGen TOPMed |
|
|
CA351814627 rs1486414201 |
551 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772575777 CA2295238 |
555 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA351814702 rs1341459156 |
556 | W>L | No |
ClinGen TOPMed |
|
|
rs373184320 CA2295243 |
572 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2295245 rs751300317 |
573 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559391072 CA351815022 |
576 | G>S | No |
ClinGen Ensembl |
|
|
rs1270680856 CA351815239 |
579 | N>S | No |
ClinGen gnomAD |
|
|
CA2295273 rs756006803 |
580 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 585 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 586 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34176522 CA2295276 |
588 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA72517991 rs959547237 |
590 | W>C | No |
ClinGen Ensembl |
|
|
CA72517979 rs1033544431 |
590 | W>L | No |
ClinGen Ensembl |
|
|
rs200614759 CA72517995 |
592 | R>S | No |
ClinGen Ensembl |
|
|
CA2295277 rs778627115 |
595 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA2295279 rs200387391 |
598 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1475836521 CA351815502 |
598 | H>R | No |
ClinGen gnomAD |
|
|
rs200387391 CA2295280 |
598 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2295281 rs747579323 |
599 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769216142 CA2295282 |
599 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776862589 CA2295283 COSM1043571 |
600 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA351815527 rs1380466159 |
602 | M>I | No |
ClinGen gnomAD |
|
|
rs770207763 CA2295285 |
611 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1291106793 CA351815615 |
614 | M>I | No |
ClinGen gnomAD |
|
|
rs773452306 CA2295286 |
614 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1575447230 CA351815618 |
615 | A>S | No |
ClinGen Ensembl |
|
|
CA2295287 rs763036630 |
618 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342556595 CA351815649 COSM185394 |
619 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA351815713 rs1447975360 |
628 | N>T | No |
ClinGen gnomAD |
|
|
CA2295293 rs761285199 |
633 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1575447670 CA351815772 |
635 | G>E | No |
ClinGen Ensembl |
|
|
CA351815790 rs1235407266 |
638 | M>V | No |
ClinGen TOPMed |
|
|
CA351815810 rs1292800840 |
641 | N>D | No |
ClinGen TOPMed |
|
|
rs368392285 CA351815832 |
644 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368392285 CA2295321 |
644 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368392285 CA351815833 |
644 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351815847 rs1318894845 |
646 | Y>C | No |
ClinGen TOPMed |
|
|
CA351815872 rs1347654338 |
649 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs755361919 CA2295322 |
650 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2295323 rs781776783 |
651 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 652 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 657 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2295326 rs371673458 |
657 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 660 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78459547 CA72518571 |
669 | G>C | No |
ClinGen Ensembl |
|
|
rs1177774070 CA351816022 |
672 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 680 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2295330 rs201417158 |
681 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 682 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559392213 CA351816097 |
682 | A>V | No |
ClinGen Ensembl |
|
|
CA72518584 rs770988640 |
691 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 694 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352865205 CA351816201 |
695 | Y>F | No |
ClinGen TOPMed |
|
|
CA72520629 rs200616743 |
696 | F>I | No |
ClinGen Ensembl |
|
|
CA2295349 rs767464189 |
698 | P>L | No |
ClinGen ExAC |
|
|
CA2295351 rs139925773 |
701 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2295352 rs747880110 |
703 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs772991104 CA2295354 |
707 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351816284 rs1485446234 |
707 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 708 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474022009 CA351816307 |
711 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776066048 CA2295360 |
729 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 735 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351816498 rs1450370409 |
736 | P>S | No |
ClinGen gnomAD |
|
|
CA2295378 rs774981426 |
740 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1373898852 CA351816526 |
740 | R>Q | No |
ClinGen TOPMed |
|
|
rs201715710 CA72523351 |
746 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 749 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760322989 CA2295379 |
750 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2295380 rs768929346 |
751 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2295381 rs776991914 |
752 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351816684 rs776991914 |
752 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351816693 rs1345516378 |
753 | F>V | No |
ClinGen gnomAD |
|
|
CA351816786 rs1209676138 |
759 | A>T | No |
ClinGen gnomAD |
|
|
CA2295382 rs762244756 |
761 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2295385 rs762991862 |
767 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs762991862 CA351816877 |
767 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751753111 CA2295387 |
768 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2295386 rs192589704 |
768 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2295388 rs143283775 |
771 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72523419 rs1048659729 |
774 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1304535297 CA351816946 |
777 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA351816953 rs1403266371 |
778 | R>T | No |
ClinGen gnomAD |
|
|
rs1326876124 CA351816970 |
780 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs138530495 CA351816976 |
781 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2295392 rs778960864 |
783 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447381628 CA351816990 |
783 | H>R | No |
ClinGen gnomAD |
|
|
rs771726674 CA2295394 |
785 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs779573290 CA2295395 |
786 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2295397 rs768301243 |
788 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2295398 rs372753354 |
788 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773689570 CA2295401 |
790 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1467416140 CA351817059 |
794 | Q>P | No |
ClinGen gnomAD |
|
|
CA351817076 rs1198523742 |
796 | Y>F | No |
ClinGen gnomAD |
|
|
CA351817090 rs1294399605 |
798 | S>* | No |
ClinGen TOPMed |
|
|
CA2295424 rs770622300 |
801 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2295427 rs759628570 COSM1043574 |
806 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767679837 CA2295428 |
806 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275045387 CA351817374 |
808 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 808 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351817392 rs1157247798 |
809 | I>M | No |
ClinGen gnomAD |
|
|
CA2295429 rs775875719 |
810 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1575452338 CA351817418 |
811 | N>I | No |
ClinGen Ensembl |
|
|
rs1358163514 CA351817438 |
812 | K>N | No |
ClinGen gnomAD |
|
|
CA351817447 TCGA novel rs1575452345 |
814 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA351817470 rs1244668632 |
817 | K>T | No |
ClinGen gnomAD |
|
|
CA2295431 rs765124997 |
821 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM730335 rs868511799 CA72525779 |
822 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 823 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758472286 CA2295433 |
824 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 825 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1575452369 CA351817531 |
826 | V>I | No |
ClinGen Ensembl |
1 associated diseases with Q8TCJ2
[MIM: 615597]: Congenital disorder of glycosylation 1X (CDG1X)
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.
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.
No regional properties for Q8TCJ2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8TCJ2 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.99.18 | Transferring other glycosyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| 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 I complex | An oligosaccharyltransferase (OST) complex that contains at least seven polypeptides and is the major OST complex in mammalian cells. Of the three forms of mammalian OST complex identified, the OSTI complex has the weakest affinity for ribosomes. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
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. |
7 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. |
| glycoprotein catabolic process | The chemical reactions and pathways resulting in the breakdown of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. |
| 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. |
| response to unfolded protein | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
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 |
| P46977 | STT3A | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A | Homo sapiens (Human) | PR |
| P46978 | Stt3a | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A | Mus musculus (Mouse) | PR |
| Q3TDQ1 | Stt3b | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B | 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 |
| MAEPSAPESK | HKSSLNSSPW | SGLMALGNSR | HGHHGPGAQC | AHKAAGGAAP | PKPAPAGLSG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GLSQPAGWQS | LLSFTILFLA | WLAGFSSRLF | AVIRFESIIH | EFDPWFNYRS | THHLASHGFY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EFLNWFDERA | WYPLGRIVGG | TVYPGLMITA | GLIHWILNTL | NITVHIRDVC | VFLAPTFSGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TSISTFLLTR | ELWNQGAGLL | AACFIAIVPG | YISRSVAGSF | DNEGIAIFAL | QFTYYLWVKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VKTGSVFWTM | CCCLSYFYMV | SAWGGYVFII | NLIPLHVFVL | LLMQRYSKRV | YIAYSTFYIV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLILSMQIPF | VGFQPIRTSE | HMAAAGVFAL | LQAYAFLQYL | RDRLTKQEFQ | TLFFLGVSLA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AGAVFLSVIY | LTYTGYIAPW | SGRFYSLWDT | GYAKIHIPII | ASVSEHQPTT | WVSFFFDLHI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVCTFPAGLW | FCIKNINDER | VFVALYAISA | VYFAGVMVRL | MLTLTPVVCM | LSAIAFSNVF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EHYLGDDMKR | ENPPVEDSSD | EDDKRNQGNL | YDKAGKVRKH | ATEQEKTEEG | LGPNIKSIVT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MLMLMLLMMF | AVHCTWVTSN | AYSSPSVVLA | SYNHDGTRNI | LDDFREAYFW | LRQNTDEHAR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VMSWWDYGYQ | IAGMANRTTL | VDNNTWNNSH | IALVGKAMSS | NETAAYKIMR | TLDVDYVLVI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FGGVIGYSGD | DINKFLWMVR | IAEGEHPKDI | RESDYFTPQG | EFRVDKAGSP | TLLNCLMYKM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SYYRFGEMQL | DFRTPPGFDR | TRNAEIGNKD | IKFKHLEEAF | TSEHWLVRIY | KVKAPDNRET |
| 790 | 800 | 810 | 820 | ||
| LDHKPRVTNI | FPKQKYLSKK | TTKRKRGYIK | NKLVFKKGKK | ISKKTV |