O60701
PR
Gene name |
UGDH |
Protein name |
UDP-glucose 6-dehydrogenase |
Names |
UDP-Glc dehydrogenase, UDP-GlcDH, UDPGDH |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7358 |
EC number |
1.1.1.22: With NAD(+) or NADP(+) as acceptor |
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
19 structures for O60701
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2Q3E | X-ray | 200 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-466 | PDB |
| 2QG4 | X-ray | 210 A | A/B/C/D/E/F/G/H | 1-466 | PDB |
| 3ITK | X-ray | 240 A | A/B/C/D/E/F | 1-466 | PDB |
| 3KHU | X-ray | 230 A | A/B/C/D/E/F | 1-466 | PDB |
| 3PRJ | X-ray | 310 A | A/B/C/D/E/F | 1-494 | PDB |
| 3PTZ | X-ray | 250 A | A/B/C/D/E/F | 1-494 | PDB |
| 3TDK | X-ray | 280 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-487 | PDB |
| 3TF5 | X-ray | 230 A | A/B/C | 1-494 | PDB |
| 4EDF | X-ray | 208 A | A/B/C/D | 1-494 | PDB |
| 4RJT | X-ray | 270 A | A/B/C | 1-494 | PDB |
| 5TJH | X-ray | 205 A | A/B/C/D/E/F | 1-494 | PDB |
| 5VR8 | X-ray | 200 A | A/B/C/D/E/F | 1-494 | PDB |
| 5W4X | X-ray | 265 A | A/B/C | 1-466 | PDB |
| 6C4J | X-ray | 253 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-494 | PDB |
| 6C4K | X-ray | 265 A | A/B/C | 1-494 | PDB |
| 6C58 | X-ray | 220 A | A/B/C/D/E/F | 1-494 | PDB |
| 6C5A | X-ray | 230 A | A/B/C/D/E/F | 1-494 | PDB |
| 6C5Z | X-ray | 295 A | A/B/C/D/E/F | 1-494 | PDB |
| AF-O60701-F1 | Predicted | AlphaFoldDB |
319 variants for O60701
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2895248 RCV000999493 VAR_083750 RCV001004652 rs369608407 |
14 | Y>C | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 84 DEE84 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD UniProt |
|
CA356663116 VAR_083751 RCV000999492 rs1306655122 |
24 | A>T | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP UniProt |
|
CA356662845 VAR_083752 RCV000999491 rs1578282133 |
42 | I>T | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA2895236 RCV001004651 rs749975104 VAR_083753 RCV000999490 |
44 | A>V | Developmental and epileptic encephalopathy, 84 DEE84; severely decreased protein stability; decreased hexamer formation; severe decrease of UDP-glucose 6-dehydrogenase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_083754 RCV001004655 rs200059198 RCV000999489 CA2895209 |
65 | R>missing | Developmental and epileptic encephalopathy, 84 DEE84 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_083754 rs200059198 |
65 | R>del | DEE84 [UniProt] | Yes |
UniProt dbSNP |
|
RCV001004653 rs769243823 CA356661611 RCV000999488 VAR_083755 |
72 | S>A | Developmental and epileptic encephalopathy, 84 DEE84 [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD UniProt |
|
RCV000999487 rs1578274054 RCV001004654 VAR_083756 CA356661543 |
82 | A>T | Developmental and epileptic encephalopathy, 84 DEE84; decreased function in glycosaminoglycan biosynthetic process in patient cells; severely decreased protein stability; decreased hexamer formation; severe decrease of UDP-glucose 6-dehydrogenase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
VAR_083757 rs903919278 CA95713116 |
116 | I>T | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen Ensembl UniProt |
|
rs1381665298 CA356660872 RCV000999485 VAR_083758 |
155 | Q>missing | DEE84 [UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1381665298 VAR_083758 |
155 | Q>del | DEE84 [UniProt] | Yes |
UniProt dbSNP |
|
CA356659299 rs756467468 VAR_083759 RCV000999484 |
175 | P>A | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000999483 rs1578269761 CA356658638 VAR_083760 |
217 | E>D | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1186496501 VAR_083761 RCV000999482 CA356658376 |
255 | I>T | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_083762 CA356658268 rs1578269200 RCV000999481 |
271 | G>R | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA356656338 RCV000999480 rs1578265068 VAR_083763 |
303 | V>I | DEE84; unknown pathological significance; may affect splicing [UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA356656236 RCV000999479 VAR_083764 rs1578265048 |
306 | M>V | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000723274 RCV001004657 CA2895036 rs775162839 VAR_083765 |
317 | R>Q | Developmental and epileptic encephalopathy, 84 DEE84; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_083766 | 356 | Y>del | DEE84 [UniProt] | Yes | UniProt |
|
VAR_083767 RCV001004656 CA356654803 RCV000999477 rs1578264574 |
367 | Y>C | Developmental and epileptic encephalopathy, 84 DEE84 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
VAR_083768 RCV000999476 RCV003152743 rs113094436 CA2894982 |
393 | R>W | Developmental and epileptic encephalopathy, 84 DEE84; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000999475 CA2894973 VAR_083769 rs770456604 |
410 | A>S | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs201894374 RCV000999474 VAR_083770 CA95709378 |
442 | R>W | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes dbSNP gnomAD |
|
RCV000999473 VAR_083771 CA95709373 COSM1055266 rs1053767552 |
443 | R>H | Variant assessed as Somatic; impact. endometrium DEE84; unknown pathological significance [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP UniProt |
|
rs779324355 VAR_083772 RCV000999472 CA356653535 |
449 | H>R | DEE84; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD UniProt |
| TCGA novel | 6 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767490233 CA2895253 |
6 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356663346 rs761771847 |
7 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs761771847 CA2895252 |
7 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs773970612 CA2895251 |
9 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1049953736 CA95718583 |
10 | I>V | No |
ClinGen Ensembl |
|
|
rs376996797 CA95718580 |
11 | G>S | No |
ClinGen Ensembl |
|
|
CA2895249 rs759610662 |
13 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA95718556 rs77771795 |
16 | G>* | No |
ClinGen Ensembl |
|
|
CA2895244 rs773827332 |
20 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2895243 rs772663434 |
23 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356663113 rs1306655122 |
24 | A>S | No |
ClinGen TOPMed |
|
|
rs374505735 CA95718545 |
25 | H>R | No |
ClinGen Ensembl |
|
|
CA356663081 rs947588957 |
26 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA95718544 rs947588957 |
26 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779084607 CA2895241 |
31 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1025047581 CA95718542 |
32 | V>I | No |
ClinGen TOPMed |
|
|
CA2895240 rs145763615 |
33 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA95718539 rs914739438 |
33 | T>S | No |
ClinGen Ensembl |
|
|
CA356662956 rs1299204864 |
35 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs928688123 CA95718513 |
38 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1578282143 CA356662892 |
39 | E>A | No |
ClinGen Ensembl |
|
|
rs1253201158 CA356662827 |
43 | N>S | No |
ClinGen TOPMed |
|
|
CA356662779 rs1388970611 |
46 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2895232 rs763792474 |
50 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762867803 CA2895231 |
52 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs752500252 CA2895212 |
55 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2895211 rs765143424 |
59 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA95714842 rs879462114 |
60 | V>A | No |
ClinGen Ensembl |
|
|
CA2895210 rs760920354 |
61 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2895208 rs767697391 |
65 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs762979242 | 68 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2895206 rs140219602 |
69 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| rs765734647 | 72 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769243823 CA2895204 |
72 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 72 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446226540 CA356661603 |
73 | T>S | No |
ClinGen gnomAD |
|
|
CA2895200 rs775776023 |
74 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356661585 rs1489618454 |
76 | D>Y | No |
ClinGen gnomAD |
|
|
rs751244149 CA95714785 |
77 | D>V | No |
ClinGen Ensembl |
|
|
CA2895198 rs745515782 |
78 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202020648 CA95714783 |
79 | I>S | No |
ClinGen Ensembl |
|
|
CA2895197 rs776324809 |
79 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260873652 CA356661523 |
83 | D>G | No |
ClinGen TOPMed |
|
|
rs777181206 CA2895195 |
83 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2895194 rs777181206 |
83 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2895193 rs187460266 |
85 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356661497 rs187460266 |
85 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1030577318 CA95713149 |
89 | V>M | No |
ClinGen Ensembl |
|
|
rs113565151 CA95713148 |
90 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs113565151 CA2895174 |
90 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389276038 CA356661282 |
92 | P>S | No |
ClinGen gnomAD |
|
|
rs1400737927 CA356661275 |
93 | T>R | No |
ClinGen gnomAD |
|
|
CA356661265 rs1172635390 |
94 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2895172 rs375953801 |
96 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs998132909 CA95713143 |
97 | G>A | No |
ClinGen Ensembl |
|
|
rs1428096648 CA356661225 |
100 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2895169 rs757450293 |
102 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2895170 rs779742282 |
102 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1420419492 CA356661202 |
104 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2895168 rs751736713 |
107 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs568964757 CA2895167 |
111 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1578270554 CA356661150 |
112 | C>S | No |
ClinGen Ensembl |
|
|
CA2895166 rs140504706 |
115 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1618803 CA2895164 rs202045254 |
115 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2895165 rs202045254 |
115 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263944470 CA356661122 |
117 | V>L | No |
ClinGen gnomAD |
|
|
CA356661112 rs1221194267 |
118 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356661113 rs1221194267 |
118 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356661108 rs1371247878 |
119 | N>D | No |
ClinGen gnomAD |
|
|
rs766669367 CA2895161 |
121 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766669367 CA2895162 |
121 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356661075 rs1333300842 |
124 | K>E | No |
ClinGen gnomAD |
|
|
CA2895160 rs760304916 |
125 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA356661063 rs1578270476 RCV000999486 |
125 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356661055 rs1405123351 |
127 | T>P | No |
ClinGen gnomAD |
|
|
rs111337616 CA356661018 |
132 | V>F | No |
ClinGen TOPMed |
|
|
CA2895158 rs771593403 |
132 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs111337616 CA95713105 |
132 | V>I | No |
ClinGen TOPMed |
|
|
CA2895157 rs761454872 |
133 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439780087 CA356661006 |
134 | V>A | No |
ClinGen gnomAD |
|
|
rs1439780087 CA356661005 |
134 | V>G | No |
ClinGen gnomAD |
|
|
CA356661002 rs1182319939 |
135 | R>Q | No |
ClinGen gnomAD |
|
|
rs768674438 CA2895155 |
135 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2895154 rs749259185 |
140 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115137663 CA2895153 |
141 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769545929 CA2895152 |
141 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356660963 rs769545929 |
141 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747242250 CA2895151 |
142 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368044471 CA2895150 |
142 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356660957 rs1355977627 |
143 | I>V | No |
ClinGen gnomAD |
|
|
rs1450410640 CA356660938 |
145 | D>V | No |
ClinGen gnomAD |
|
|
rs1381741430 CA356660930 |
146 | A>G | No |
ClinGen gnomAD |
|
|
rs752737840 CA2895147 |
148 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778991709 CA2895146 |
151 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs754301626 CA2895144 |
154 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2895143 rs766757605 |
155 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs375062099 CA2895130 |
159 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772235942 CA2895129 |
160 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA356659482 rs1427070347 |
164 | A>E | No |
ClinGen gnomAD |
|
|
rs748387130 CA2895128 |
166 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs755113560 CA2895126 |
167 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs908289507 CA95712927 |
170 | K>R | No |
ClinGen gnomAD |
|
|
CA356659375 rs1288573479 |
171 | D>N | No |
ClinGen gnomAD |
|
|
CA2895123 rs756467468 |
175 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA356659272 rs1305524531 |
176 | D>E | No |
ClinGen gnomAD |
|
|
CA356659277 rs1223728130 |
176 | D>G | No |
ClinGen gnomAD |
|
|
CA2895120 rs768014546 |
180 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2895119 rs527756813 |
182 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA95712918 rs948466547 |
185 | T>I | No |
ClinGen TOPMed |
|
|
CA356659129 rs1238738890 |
187 | E>K | No |
ClinGen Ensembl |
|
|
CA356659081 rs1282156495 |
189 | Q>R | No |
ClinGen TOPMed |
|
|
rs751260541 CA2895118 |
190 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751260541 CA356659070 |
190 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2895117 rs763685293 |
191 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894232451 CA95712899 |
193 | Q>* | No |
ClinGen TOPMed |
|
|
CA356659027 rs1578269896 |
193 | Q>R | No |
ClinGen Ensembl |
|
|
rs1443799790 CA356659015 |
194 | A>T | No |
ClinGen gnomAD |
|
|
CA2895116 rs144192248 |
194 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1171919565 CA356658994 |
195 | L>P | No |
ClinGen gnomAD |
|
|
rs775468206 CA2895115 |
196 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA356658957 rs1427393045 |
198 | V>I | No |
ClinGen gnomAD |
|
|
rs1463142555 CA356658911 |
200 | E>D | No |
ClinGen TOPMed |
|
|
CA356658893 rs765048353 |
201 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356658899 rs1199000393 |
201 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA95712870 rs1054657510 |
203 | V>I | No |
ClinGen TOPMed |
|
|
rs933655472 CA356658828 |
205 | R>K | No |
ClinGen gnomAD |
|
|
CA95712862 rs933655472 |
205 | R>T | No |
ClinGen gnomAD |
|
|
rs778486297 CA95712841 |
206 | E>G | No |
ClinGen TOPMed |
|
|
CA2895112 rs776235593 |
208 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2895111 rs770721281 |
211 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1319762440 CA356658713 |
212 | N>D | No |
ClinGen gnomAD |
|
|
CA2895109 rs774610502 |
216 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs879942832 CA95712459 |
222 | A>T | No |
ClinGen Ensembl |
|
|
CA95712457 rs566624969 |
222 | A>V | No |
ClinGen Ensembl |
|
|
CA356658593 rs1352368485 |
223 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450230376 CA356658560 |
228 | A>S | No |
ClinGen TOPMed |
|
|
rs1243008711 CA356658556 |
229 | Q>K | No |
ClinGen gnomAD |
|
|
CA356658521 rs1389035323 |
233 | S>I | No |
ClinGen Ensembl |
|
|
rs763881954 CA2895095 |
234 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396973439 CA356658492 |
237 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356658497 rs1333993203 |
237 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA95712449 rs200380906 |
239 | A>G | No |
ClinGen Ensembl |
|
|
CA356658478 rs1287358288 |
240 | L>M | No |
ClinGen gnomAD |
|
|
CA356658449 rs1453094335 |
244 | T>A | No |
ClinGen gnomAD |
|
|
rs1413039249 CA356658428 |
247 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1457035532 CA356658432 |
247 | D>N | No |
ClinGen gnomAD |
|
|
rs139554286 CA2895092 |
247 | D>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1159158609 CA356658398 |
252 | A>T | No |
ClinGen gnomAD |
|
|
rs759328854 CA2895089 |
257 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA95712392 rs886950933 |
268 | A>G | No |
ClinGen Ensembl |
|
|
rs766146242 CA2895087 |
268 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760508476 CA2895086 |
269 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356658216 rs1129052 |
276 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1273664472 CA356658203 |
278 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1423831672 CA356658172 |
283 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA95711904 rs985297316 |
288 | C>Y | No |
ClinGen gnomAD |
|
|
rs776883283 CA2895061 |
290 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs199986130 CA2895060 |
298 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968491131 CA95711895 |
298 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356656284 rs1464295100 |
304 | I>T | No |
ClinGen gnomAD |
|
|
rs1239397498 CA356656301 |
304 | I>V | No |
ClinGen gnomAD |
|
|
CA356656215 rs1159032166 |
306 | M>R | No |
ClinGen TOPMed |
|
|
rs1333198828 CA356656127 |
309 | Y>H | No |
ClinGen gnomAD |
|
|
rs1317015589 CA356655982 |
313 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779173046 CA2895037 |
317 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356655653 COSM1195945 rs1578264977 |
325 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356655581 rs1287204329 |
329 | K>N | No |
ClinGen TOPMed |
|
|
rs755687279 CA2895033 |
333 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA356655529 rs1578264948 |
333 | I>M | No |
ClinGen Ensembl |
|
|
rs1027527120 CA95710366 |
333 | I>S | No |
ClinGen Ensembl |
|
|
CA95710361 rs973256107 |
335 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA95710358 rs764725337 |
339 | K>R | No |
ClinGen Ensembl |
|
|
rs1203959093 CA356655332 |
342 | T>S | No |
ClinGen TOPMed |
|
|
CA356655307 rs1283606237 |
344 | D>N | No |
ClinGen TOPMed |
|
|
rs1290408243 CA356655039 |
350 | S>N | No |
ClinGen gnomAD |
|
|
rs1260191836 RCV000999478 CA356654886 |
356 | Y>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA95710156 rs917325637 |
358 | M>L | No |
ClinGen Ensembl |
|
|
rs1479782965 CA356654864 |
358 | M>T | No |
ClinGen TOPMed |
|
|
CA2895011 rs769271659 |
362 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs10010387 CA2895009 |
363 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2895008 rs543523320 |
364 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746926346 CA2895007 |
365 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA356654816 rs1423124119 |
365 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 369 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171698535 CA356654784 |
370 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2895006 rs777622665 |
370 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA95710143 rs937346725 |
374 | E>K | No |
ClinGen Ensembl |
|
|
rs1370929186 CA356654730 |
378 | V>M | No |
ClinGen TOPMed |
|
|
rs1461226039 CA356654708 |
381 | S>Y | No |
ClinGen TOPMed |
|
|
rs766743798 CA2895003 |
382 | H>Q | No |
ClinGen ExAC |
|
|
CA356654692 rs182948898 |
384 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA95710135 rs182948898 |
384 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2895001 rs750465337 |
384 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs372994324 CA2895000 |
385 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2894999 rs762313199 |
386 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA356654658 rs1407273373 |
389 | D>G | No |
ClinGen TOPMed |
|
|
CA2894998 rs774785564 |
390 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1481372223 CA356654580 |
393 | R>Q | No |
ClinGen gnomAD |
|
|
CA356654559 rs1420139288 |
394 | L>P | No |
ClinGen gnomAD |
|
|
rs752083244 CA2894980 |
395 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2894978 rs763473129 |
399 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763473129 CA356654465 |
399 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770011021 CA356654438 |
400 | D>G | No |
ClinGen TOPMed |
|
|
rs1238675111 CA356654451 |
400 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs770011021 CA95709797 |
400 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 401 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899094826 CA95709793 |
402 | Y>H | No |
ClinGen TOPMed |
|
|
rs778755178 CA95709787 |
404 | A>T | No |
ClinGen Ensembl |
|
|
CA2894977 rs753003368 |
406 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2894976 rs765591985 |
407 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356654295 rs1560686114 |
407 | G>S | No |
ClinGen Ensembl |
|
|
CA2894974 rs776207068 |
408 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2894975 rs776207068 |
408 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1051697509 CA95709770 |
413 | I>V | No |
ClinGen Ensembl |
|
|
CA356654099 rs1361014385 |
416 | E>* | No |
ClinGen gnomAD |
|
|
CA2894969 rs141970383 |
416 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 417 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371662600 CA2894968 |
419 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs921785690 CA95709724 |
419 | M>T | No |
ClinGen Ensembl |
|
|
CA356654015 rs1437820312 |
419 | M>V | No |
ClinGen gnomAD |
|
|
rs141551091 CA95709719 COSM39271 |
420 | F>S | central_nervous_system skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2894951 rs370295255 |
422 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2894952 rs772787684 |
422 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs922278383 CA95709395 |
426 | E>K | No |
ClinGen gnomAD |
|
|
CA2894949 rs148161041 |
427 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2894948 rs768474926 |
427 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356653848 rs148161041 |
427 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | H>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2894947 rs147122976 |
431 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs774133578 | 432 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 432 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318866802 CA356653720 |
435 | P>A | No |
ClinGen gnomAD |
|
|
rs1162365973 CA356653687 |
437 | F>S | No |
ClinGen gnomAD |
|
|
CA356653695 rs1388307521 |
437 | F>V | No |
ClinGen gnomAD |
|
|
rs754871857 CA2894944 |
438 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2894942 rs777823955 COSM221255 |
440 | D>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1195945550 CA356653627 |
443 | R>C | No |
ClinGen gnomAD |
|
|
rs748628569 CA2894940 |
444 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA95709367 rs903705209 |
447 | G>E | No |
ClinGen Ensembl |
|
|
CA356653571 rs1259165663 |
447 | G>R | No |
ClinGen TOPMed |
|
|
CA2894939 rs779324355 |
449 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137877647 CA95709355 |
450 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA95709360 rs137877647 |
450 | N>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356653506 rs1256363149 |
451 | E>V | No |
ClinGen gnomAD |
|
|
rs371132377 CA2894938 |
453 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766784095 CA2894937 |
453 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2894935 rs755764491 |
455 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs934953491 CA95709348 |
455 | I>V | No |
ClinGen TOPMed |
|
|
rs753344592 CA95709337 |
456 | G>V | No |
ClinGen Ensembl |
|
|
CA95707149 rs895364082 |
459 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2894912 rs749809838 |
461 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356651959 rs749809838 |
461 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2894911 rs749809838 |
461 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048654784 CA95707144 |
462 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356651757 rs750080424 |
466 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2894908 rs750080424 |
466 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2894907 rs767319348 |
469 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356651668 rs767319348 |
469 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757002418 CA2894905 |
472 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs866070634 CA95707128 |
473 | Y>C | No |
ClinGen Ensembl |
|
|
rs1337082775 CA356651510 |
473 | Y>H | No |
ClinGen TOPMed |
|
|
CA2894904 rs146932231 |
475 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2894903 rs763664159 |
476 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2894902 rs760852204 |
477 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA356651327 rs1279344897 |
479 | I>F | No |
ClinGen gnomAD |
|
|
CA2894900 rs764992651 |
480 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2894901 rs775554067 |
480 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356651278 rs775554067 |
480 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766650772 CA95707110 |
481 | K>Q | No |
ClinGen Ensembl |
|
|
rs1373738864 CA356651131 |
482 | F>C | No |
ClinGen gnomAD |
|
|
CA356651134 rs1239210469 |
482 | F>V | No |
ClinGen gnomAD |
|
|
rs1373738864 CA356651130 |
482 | F>Y | No |
ClinGen gnomAD |
|
|
CA356651074 rs1280951409 |
483 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 485 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 485 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339369402 CA356650926 |
487 | P>T | No |
ClinGen gnomAD |
|
|
rs772229766 CA2894897 |
488 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2894896 rs762039752 |
489 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356650729 rs1359236936 |
491 | K>R | No |
ClinGen gnomAD |
|
|
CA356650694 rs1158537408 |
492 | P>T | No |
ClinGen gnomAD |
1 associated diseases with O60701
[MIM: 618792]: Developmental and epileptic encephalopathy 84 (DEE84)
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. {ECO:0000269|PubMed:32001716}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. {ECO:0000269|PubMed:32001716}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for O60701
Functions
| Description | ||
|---|---|---|
| EC Number | 1.1.1.22 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| NAD binding | Binding to nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NAD+, or the reduced form, NADH. |
| UDP-glucose 6-dehydrogenase activity | Catalysis of the reaction: H(2)O + 2 NAD(+) + UDP-alpha-D-glucose = 3 H(+) + 2 NADH + UDP-alpha-D-glucuronate. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| chondroitin sulfate biosynthetic process | The chemical reactions and pathways resulting in the formation of chondroitin sulfate, any member of a group of 10-60 kDa glycosaminoglycans, widely distributed in cartilage and other mammalian connective tissues, the repeat units of which consist of beta-(1,4)-linked D-glucuronyl beta-(1,3)-N-acetyl-D-galactosamine sulfate. |
| gastrulation with mouth forming second | A gastrulation process in which the initial invagination becomes the anus and the mouth forms second. |
| glycosaminoglycan biosynthetic process | The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. |
| heparan sulfate proteoglycan biosynthetic process | The chemical reactions and pathways resulting in the formation of the heparan sulfate proteoglycan, a glycosaminoglycan with repeat unit consisting of alternating alpha-(1->4)-linked hexuronic acid and glucosamine residues; the former are a mixture of sulfated and nonsulfated D-glucuronic acid and L-iduronic acid; the L-iduronic acid is either sulfated or acetylated on its amino group as well as being sulfated on one of its hydroxyl groups; heparan sulfate chains are covalently linked to peptidyl-serine by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylosyl to serine residues. |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| protein hexamerization | The formation of a protein hexamer, a macromolecular structure consisting of six noncovalently associated identical or nonidentical subunits. |
| UDP-glucuronate biosynthetic process | The chemical reactions and pathways resulting in the formation of UDP-glucuronate, a substance composed of glucuronic acid in glycosidic linkage with uridine diphosphate. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P12378 | UGDH | UDP-glucose 6-dehydrogenase | Bos taurus (Bovine) | PR |
| Q5F3T9 | UGDH | UDP-glucose 6-dehydrogenase | Gallus gallus (Chicken) | PR |
| O70475 | Ugdh | UDP-glucose 6-dehydrogenase | Mus musculus (Mouse) | PR |
| O70199 | Ugdh | UDP-glucose 6-dehydrogenase | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFEIKKICCI | GAGYVGGPTC | SVIAHMCPEI | RVTVVDVNES | RINAWNSPTL | PIYEPGLKEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VESCRGKNLF | FSTNIDDAIK | EADLVFISVN | TPTKTYGMGK | GRAADLKYIE | ACARRIVQNS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NGYKIVTEKS | TVPVRAAESI | RRIFDANTKP | NLNLQVLSNP | EFLAEGTAIK | DLKNPDRVLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GGDETPEGQR | AVQALCAVYE | HWVPREKILT | TNTWSSELSK | LAANAFLAQR | ISSINSISAL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CEATGADVEE | VATAIGMDQR | IGNKFLKASV | GFGGSCFQKD | VLNLVYLCEA | LNLPEVARYW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QQVIDMNDYQ | RRRFASRIID | SLFNTVTDKK | IAILGFAFKK | DTGDTRESSS | IYISKYLMDE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GAHLHIYDPK | VPREQIVVDL | SHPGVSEDDQ | VSRLVTISKD | PYEACDGAHA | VVICTEWDMF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KELDYERIHK | KMLKPAFIFD | GRRVLDGLHN | ELQTIGFQIE | TIGKKVSSKR | IPYAPSGEIP |
| 490 | |||||
| KFSLQDPPNK | KPKV |