Q8IZT8
PR
Gene name |
HS3ST5 (3OST5, HS3OST5) |
Protein name |
Heparan sulfate glucosamine 3-O-sulfotransferase 5 |
Names |
Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5, 3-OST-5, Heparan sulfate 3-O-sulfotransferase 5, h3-OST-5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:222537 |
EC number |
2.8.2.23: Sulfotransferases |
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
4 structures for Q8IZT8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3BD9 | X-ray | 230 A | A | 88-346 | PDB |
| 7SCD | X-ray | 290 A | A | 86-346 | PDB |
| 7SCE | X-ray | 275 A | A | 86-346 | PDB |
| AF-Q8IZT8-F1 | Predicted | AlphaFoldDB |
240 variants for Q8IZT8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs201073190 CA3967303 |
2 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3967301 rs201629220 |
7 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201629220 COSM1210003 CA3967302 |
7 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3967299 rs768863635 |
9 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316617508 CA365528935 |
13 | L>V | No |
ClinGen gnomAD |
|
|
rs375437133 CA3967297 |
14 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA146155279 rs992173225 |
17 | G>R | No |
ClinGen Ensembl |
|
|
CA3967295 rs749398780 |
18 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3967294 rs773383597 |
19 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA365528892 rs1358717418 |
20 | A>D | No |
ClinGen gnomAD |
|
|
rs1351625801 CA365528896 |
20 | A>T | No |
ClinGen TOPMed |
|
|
CA3967292 rs563950628 COSM1072334 |
21 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA365528884 rs1406392025 |
22 | G>W | No |
ClinGen gnomAD |
|
|
rs199997653 CA3967291 |
25 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365528864 rs199997653 |
25 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745592195 CA3967289 |
27 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1464268818 CA365528853 |
27 | L>V | No |
ClinGen TOPMed |
|
|
CA3967288 rs778933658 |
28 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA365528845 rs144143119 |
29 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144143119 COSM483297 CA3967285 |
29 | A>T | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA146155277 rs952237639 |
31 | V>A | No |
ClinGen gnomAD |
|
|
rs752465476 CA3967283 |
31 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767007396 CA3967282 |
32 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3967265 rs755629988 |
37 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1457686929 CA365528641 |
38 | Q>K | No |
ClinGen gnomAD |
|
|
CA365528631 rs1164967724 |
39 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365528610 rs1165605209 |
42 | P>S | No |
ClinGen gnomAD |
|
|
rs191330212 CA3967262 |
43 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3967263 rs780915988 |
43 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365528590 rs1450065473 |
45 | G>D | No |
ClinGen gnomAD |
|
|
rs766897963 CA3967259 |
46 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146236137 CA3967258 |
47 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193598234 CA365528577 |
48 | G>C | No |
ClinGen TOPMed |
|
|
rs144333146 CA3967255 |
51 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA365528560 rs144333146 |
51 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3967254 rs776534627 |
51 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365528561 rs144333146 |
51 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365528553 rs1439434345 |
52 | T>N | No |
ClinGen gnomAD |
|
|
CA3967253 rs768752863 |
53 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs537799007 CA3967252 |
54 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA146154840 rs865945361 |
57 | P>S | No |
ClinGen Ensembl |
|
|
rs775679934 CA3967251 COSM1439952 |
59 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371850649 CA3967250 COSM201678 |
59 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine stomach [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769565557 CA3967248 |
60 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769565557 CA3967247 |
60 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365528508 rs769565557 |
60 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368296798 CA365528505 |
60 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 61 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3967246 rs139315971 |
61 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777952604 CA146154839 |
61 | L>V | No |
ClinGen gnomAD |
|
|
CA146154838 rs867510691 |
64 | K>N | No |
ClinGen Ensembl |
|
|
CA3967245 rs780604705 |
65 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365528477 rs780604705 |
65 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3967244 rs373398789 |
65 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA146154837 rs756289450 |
66 | G>V | No |
ClinGen Ensembl |
|
|
CA365528446 rs1205965764 |
70 | E>D | No |
ClinGen gnomAD |
|
|
CA3967240 rs750769226 |
70 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1582548226 CA365528451 |
70 | E>K | No |
ClinGen Ensembl |
|
|
COSM353405 rs1039781781 CA146154835 |
71 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM3697460 CA3967238 rs762269276 |
72 | R>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA146154834 rs762269276 |
72 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758282651 CA3967239 |
72 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365528428 rs1487529333 |
73 | K>N | No |
ClinGen TOPMed |
|
|
CA3967237 rs754349994 |
75 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA146154833 rs756836906 |
76 | A>P | No |
ClinGen Ensembl |
|
|
CA3967235 rs202039058 |
76 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs866809369 CA146154832 |
77 | S>F | No |
ClinGen Ensembl |
|
|
CA3967234 rs370563140 |
79 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370563140 CA3967233 |
79 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365528393 rs370563140 |
79 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3967232 rs762754576 |
80 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1306952872 CA365528388 |
80 | Q>R | No |
ClinGen gnomAD |
|
|
rs945657095 CA146154831 |
81 | V>F | No |
ClinGen Ensembl |
|
|
rs544926335 CA365528378 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3967231 rs544926335 |
82 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748083027 CA3967229 |
82 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs544926335 CA3967230 |
82 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365528373 rs1160715201 |
83 | L>F | No |
ClinGen TOPMed |
|
|
rs1378629175 CA365528365 |
84 | H>R | No |
ClinGen TOPMed |
|
|
rs776616639 CA365528357 |
85 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776616639 CA3967228 |
85 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141416529 CA3967225 |
88 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365528326 rs1439776834 |
90 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3967224 rs201338991 |
90 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779197125 CA3967222 |
91 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs202101806 CA146154830 |
91 | P>S | No |
ClinGen Ensembl |
|
|
CA3967221 rs757630611 |
92 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3967220 rs148289240 |
93 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA146154829 rs991241382 |
95 | I>T | No |
ClinGen TOPMed |
|
|
rs537896729 CA365528290 |
96 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537896729 CA3967217 COSM450368 |
96 | I>T | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759791126 CA3967215 |
98 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3967213 rs764997286 |
104 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs776436846 CA3967211 |
106 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA146154827 rs201648043 |
111 | N>K | No |
ClinGen Ensembl |
|
|
CA365528195 rs1471309444 |
111 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365528178 rs144094472 |
114 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746548752 COSM293001 CA3967209 |
114 | P>L | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3967210 rs144094472 |
114 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3967207 rs771687741 |
116 | V>I | No |
ClinGen ExAC |
|
|
CA146154826 rs868796298 |
117 | V>L | No |
ClinGen Ensembl |
|
|
CA3967205 rs778620923 |
119 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3967204 rs757564478 |
119 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 124 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1378538840 | 126 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 129 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749604522 CA3967203 |
130 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA365528062 rs1164416149 |
131 | N>H | No |
ClinGen TOPMed |
|
|
CA3967201 rs756577121 |
131 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1370025889 CA365528044 |
133 | G>A | No |
ClinGen TOPMed |
|
|
rs1340616801 CA365528032 |
135 | G>D | No |
ClinGen gnomAD |
|
|
CA3967198 rs767635603 |
135 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432866799 CA365527993 |
140 | R>K | No |
ClinGen gnomAD |
|
|
rs755039843 CA3967197 |
141 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1321008286 CA365527980 |
142 | K>E | No |
ClinGen gnomAD |
|
|
rs751797935 CA3967196 |
143 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA365527964 rs1397035950 |
144 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 144 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365527963 rs1397035950 |
144 | P>S | No |
ClinGen TOPMed |
|
|
rs1011552855 CA146154822 |
145 | F>S | No |
ClinGen TOPMed |
|
|
rs370730065 CA146154821 |
147 | Y>N | No |
ClinGen Ensembl |
|
|
CA3967195 rs766557307 |
147 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs761527530 CA3967194 |
148 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776438101 CA3967193 |
149 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365527903 rs1261796461 |
153 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA365527906 rs1186717799 |
153 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1249137299 CA365527898 COSM232508 |
154 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 157 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289598668 CA365527868 |
158 | A>S | No |
ClinGen gnomAD |
|
|
rs1314376859 CA365527836 |
162 | T>I | No |
ClinGen TOPMed |
|
|
rs1265384538 CA365527807 |
167 | E>K | No |
ClinGen TOPMed |
|
|
CA3967187 rs773885125 |
170 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs770564913 CA3967186 |
173 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3947912 rs866108296 CA146154818 |
175 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1340757506 CA365527742 |
176 | I>L | No |
ClinGen TOPMed |
|
|
CA3967183 rs770124673 |
177 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs367629035 CA3967181 |
187 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367629035 CA365527665 |
187 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3967180 rs542643269 |
188 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 189 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285525413 CA365527621 |
194 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751601233 CA3967179 |
206 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758686546 CA3967177 |
207 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365527462 rs1391341669 |
207 | Y>H | No |
ClinGen gnomAD |
|
|
CA365527373 rs1246532631 |
210 | F>L | No |
ClinGen gnomAD |
|
|
rs1405787731 CA365527369 |
211 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1200002959 CA365527306 |
214 | A>V | No |
ClinGen gnomAD |
|
|
rs935643552 CA146154814 |
216 | D>E | No |
ClinGen Ensembl |
|
|
rs1054070110 CA146154815 |
216 | D>N | No |
ClinGen TOPMed |
|
|
rs760540259 CA3967174 |
219 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA146154813 rs1047245211 |
220 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1047245211 CA365527235 |
220 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767501144 CA3967172 |
221 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758986877 CA3967171 |
222 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA365527208 rs758986877 |
222 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3967170 rs138458938 |
225 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365527132 rs1405277244 |
227 | K>N | No |
ClinGen gnomAD |
|
|
CA365527124 rs1347653392 |
228 | A>G | No |
ClinGen gnomAD |
|
|
CA146154812 rs866693527 |
228 | A>T | No |
ClinGen Ensembl |
|
|
CA3967169 rs770321077 |
230 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA146154811 rs374975721 |
233 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 236 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3967166 rs376630872 |
237 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748446547 CA3967165 |
240 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365526937 rs1317406640 |
244 | Y>* | No |
ClinGen TOPMed |
|
|
CA3967164 rs781674355 |
245 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1173562985 CA365526928 |
246 | P>A | No |
ClinGen gnomAD |
|
|
rs17793043 VAR_052531 CA3967162 |
247 | I>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs17793043 CA365526921 |
247 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3967163 rs769103925 |
247 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972610222 CA146154810 |
251 | H>R | No |
ClinGen Ensembl |
|
|
rs150930343 CA3967161 |
253 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750723182 CA3967159 |
254 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750723182 CA365526875 |
254 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM3619634 CA365526844 rs1262231107 |
257 | R>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA3967157 COSM1072330 rs755983596 |
257 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA365526826 rs1479943936 |
258 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1325493499 CA365526823 |
259 | I>V | No |
ClinGen gnomAD |
|
|
rs529073825 CA3967155 |
260 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529073825 CA3967156 |
260 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365526790 COSM593860 rs1177679736 |
262 | P>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA365526717 rs1299994423 |
267 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3967152 rs140386644 |
269 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3967153 rs140386644 |
269 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762367638 CA3967151 |
278 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3967150 rs772858234 |
279 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3967149 rs764813664 |
281 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762189049 CA3967148 |
281 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA365526495 rs1408199464 CA365526496 |
282 | Y>* | No |
ClinGen gnomAD |
|
|
CA3967147 rs776941222 |
287 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA365526423 rs776941222 |
287 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA365526398 rs1236849104 |
288 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 289 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3967146 rs768985651 |
290 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs758350596 CA3967144 |
293 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 293 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772196051 CA3967143 |
296 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365526297 rs1207827920 |
296 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA365526285 rs1310497818 |
298 | N>H | No |
ClinGen TOPMed |
|
|
rs1209712418 CA365526273 |
299 | I>S | No |
ClinGen TOPMed |
|
|
rs1286965879 CA365526268 |
300 | I>N | No |
ClinGen TOPMed |
|
|
CA3967141 rs779297931 |
301 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3967140 rs757510664 |
302 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3967139 rs146746045 |
306 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365526210 rs368654408 |
308 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 309 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 311 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766165768 COSM219334 CA3967135 |
311 | R>H | lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751584987 COSM1544652 CA3967136 |
311 | R>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3967131 rs200441388 |
312 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3967132 rs764901769 |
312 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3967133 rs749887631 |
312 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3967129 rs764585848 |
319 | S>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1072326 CA3967128 rs374141405 |
325 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3967127 COSM593862 rs371223492 |
325 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA146154803 rs374141405 |
325 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1437853129 CA365526014 |
326 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 327 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA146154802 rs267600770 |
329 | H>Y | No |
ClinGen Ensembl |
|
|
rs774599470 CA146154800 |
332 | N>H | No |
ClinGen Ensembl |
|
|
CA3967124 rs148652164 |
333 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383139939 CA365525866 |
334 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749582974 CA3967122 |
337 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754809306 CA3967120 |
340 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3967118 rs149977661 |
344 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1425936042 CA365525779 |
345 | W>* | No |
ClinGen gnomAD |
No associated diseases with Q8IZT8
1 regional properties for Q8IZT8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sulfotransferase domain | 91 - 335 | IPR000863 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.8.2.23 | Sulfotransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-phosphoadenosine 5'-phosphosulfate binding | Binding to 3'-phosphoadenosine 5'-phosphosulfate (PAPS), a naturally occurring mixed anhydride. It is an intermediate in the formation of a variety of sulfo compounds in biological systems. |
| [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity | Catalysis of the reaction: 3'-phosphoadenylyl sulfate + -glucosamine 3-sulfate has a substrate consensus sequence of Glc(N2S>NAc)+/-6S GlcA GlcN2S*+/-6S GlcA>IdoA+/-2S Glc(N2S/NAc)+/-6S. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| 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, enzymatic modification | The modification, often by sulfation, of sugars incorporated into heparan sulfate after polymerization. |
| negative regulation of coagulation | Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation. |
| protein sulfation | The addition of a sulfate group as an ester to a protein amino acid. |
| regulation of viral entry into host cell | Any process that modulates the frequency, rate or extent of the viral entry into the host cell. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O35310 | Hs3st1 | Heparan sulfate glucosamine 3-O-sulfotransferase 1 | Mus musculus (Mouse) | PR |
| Q8BSL4 | Hs3st5 | Heparan sulfate glucosamine 3-O-sulfotransferase 5 | Mus musculus (Mouse) | PR |
| Q9ESG5 | Hs3st1 | Heparan sulfate glucosamine 3-O-sulfotransferase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLFKQQAWLR | QKLLVLGSLA | VGSLLYLVAR | VGSLDRLQPI | CPIEGRLGGA | RTQAEFPLRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LQFKRGLLHE | FRKGNASKEQ | VRLHDLVQQL | PKAIIIGVRK | GGTRALLEML | NLHPAVVKAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QEIHFFDNDE | NYGKGIEWYR | KKMPFSYPQQ | ITIEKSPAYF | ITEEVPERIY | KMNSSIKLLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IVREPTTRAI | SDYTQVLEGK | ERKNKTYYKF | EKLAIDPNTC | EVNTKYKAVR | TSIYTKHLER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WLKYFPIEQF | HVVDGDRLIT | EPLPELQLVE | KFLNLPPRIS | QYNLYFNATR | GFYCLRFNII |
| 310 | 320 | 330 | 340 | ||
| FNKCLAGSKG | RIHPEVDPSV | ITKLRKFFHP | FNQKFYQITG | RTLNWP |