P49902
PR
Gene name |
NT5C2 |
Protein name |
Cytosolic purine 5'-nucleotidase |
Names |
Cytosolic 5'-nucleotidase II, cN-II, Cytosolic IMP/GMP-specific 5'-nucleotidase, Cytosolic nucleoside phosphotransferase 5'N, High Km 5'-nucleotidase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22978 |
EC number |
2.7.1.77: Phosphotransferases with an alcohol group 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
44 structures for P49902
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2J2C | X-ray | 220 A | A | 1-536 | PDB |
| 2JC9 | X-ray | 150 A | A | 1-536 | PDB |
| 2JCM | X-ray | 215 A | A | 1-536 | PDB |
| 2XCV | X-ray | 230 A | A | 1-536 | PDB |
| 2XCW | X-ray | 190 A | A | 1-536 | PDB |
| 2XCX | X-ray | 230 A | A | 1-536 | PDB |
| 2XJB | X-ray | 230 A | A | 1-536 | PDB |
| 2XJC | X-ray | 200 A | A | 1-536 | PDB |
| 2XJD | X-ray | 200 A | A | 1-536 | PDB |
| 2XJE | X-ray | 230 A | A | 1-536 | PDB |
| 2XJF | X-ray | 210 A | A | 1-536 | PDB |
| 4H4B | X-ray | 290 A | A | 1-536 | PDB |
| 5CQZ | X-ray | 290 A | A/B | 1-536 | PDB |
| 5CR7 | X-ray | 290 A | A/B | 1-536 | PDB |
| 5K7Y | X-ray | 179 A | A | 1-536 | PDB |
| 5L4Z | X-ray | 184 A | A | 1-536 | PDB |
| 5L50 | X-ray | 164 A | A | 1-536 | PDB |
| 5OPK | X-ray | 174 A | A | 3-488 | PDB |
| 5OPL | X-ray | 180 A | A | 1-536 | PDB |
| 5OPM | X-ray | 168 A | A | 3-488 | PDB |
| 5OPN | X-ray | 177 A | A | 3-488 | PDB |
| 5OPO | X-ray | 200 A | A | 3-488 | PDB |
| 5OPP | X-ray | 170 A | A | 3-488 | PDB |
| 6DD3 | X-ray | 198 A | A | 1-536 | PDB |
| 6DDB | X-ray | 280 A | A/B | 1-536 | PDB |
| 6DDC | X-ray | 291 A | A/B | 1-536 | PDB |
| 6DDH | X-ray | 235 A | A | 1-536 | PDB |
| 6DDK | X-ray | 250 A | A/B | 1-561 | PDB |
| 6DDL | X-ray | 226 A | A/B | 1-523 | PDB |
| 6DDO | X-ray | 248 A | A/B | 1-561 | PDB |
| 6DDQ | X-ray | 231 A | A/B | 1-561 | PDB |
| 6DDX | X-ray | 290 A | A | 1-536 | PDB |
| 6DDY | X-ray | 180 A | A | 1-536 | PDB |
| 6DDZ | X-ray | 197 A | A | 1-536 | PDB |
| 6DE0 | X-ray | 205 A | A | 1-523 | PDB |
| 6DE1 | X-ray | 215 A | A | 1-561 | PDB |
| 6DE2 | X-ray | 210 A | A | 1-561 | PDB |
| 6DE3 | X-ray | 306 A | A | 1-561 | PDB |
| 6FIR | X-ray | 250 A | A | 1-536 | PDB |
| 6FIS | X-ray | 230 A | A | 1-536 | PDB |
| 6FIU | X-ray | 250 A | A | 1-536 | PDB |
| 6FIW | X-ray | 220 A | A | 1-536 | PDB |
| 6FXH | X-ray | 230 A | A | 1-561 | PDB |
| AF-P49902-F1 | Predicted | AlphaFoldDB |
329 variants for P49902
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs10883841 RCV000441591 CA5671217 VAR_024244 RCV001511967 |
3 | T>A | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5671208 RCV000801581 rs751896016 |
15 | M>T | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5671206 RCV000652090 rs762854961 |
19 | M>I | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587777173 RCV001310575 RCV000087268 CA214457 |
29 | R>* | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565150442 CA378171799 RCV000689916 |
47 | K>E | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs72846108 RCV001214190 CA5671184 RCV002561840 |
47 | K>N | Hereditary spastic paraplegia 45 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001308576 rs2071354086 |
78 | V>I | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763305896 RCV000652085 |
105 | L>missing | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5671097 VAR_030242 rs12262171 RCV002525314 |
136 | Q>R | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001030784 CA5671094 rs764453448 COSM283403 |
144 | R>* | Hereditary spastic paraplegia 45 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587777174 CA214459 RCV000087271 |
149 | R>* | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777174 RCV001223401 |
149 | R>G | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs116066839 RCV000973203 RCV001252899 CA5671015 |
219 | V>A | Hereditary spastic paraplegia 45 Microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA377975555 RCV000994498 rs1590754368 RCV001858790 |
229 | D>H | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA377971632 rs1564921342 RCV000699427 |
328 | S>P | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000441855 rs1057519867 CA16602792 |
359 | K>Q | Lymphoblastic leukemia, acute, with lymphomatous features [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1590658486 CA377970929 RCV000813580 |
364 | Q>E | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769873284 COSM200312 CA212323644 RCV001035006 |
367 | R>* | Hereditary spastic paraplegia 45 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA5670858 RCV000797354 rs138513368 |
380 | H>R | Hereditary spastic paraplegia 45 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5670833 RCV000543546 rs775006132 COSM1345538 |
391 | E>G | Hereditary spastic paraplegia 45 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP |
|
rs886037656 RCV000087269 |
409 | S>missing | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA377969323 RCV001061793 rs1294333255 |
420 | Q>R | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002552648 rs1433755096 RCV001048722 |
430 | M>T | Hereditary spastic paraplegia 45 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA377968978 rs1419090736 RCV001224426 |
457 | Y>* | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_079707 | 460 | L>P | SPG45; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA5670730 RCV001072063 RCV003160595 rs766540908 |
510 | T>P | Hereditary spastic paraplegia 45 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5670703 rs141031435 RCV000652089 |
555 | E>D | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1338040632 RCV000652091 |
560 | E>missing | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556899 rs537259520 RCV001848970 |
560 | E>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326180 rs537259520 RCV001847240 |
561 | E>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001879065 rs537259520 |
561 | E>missing | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232671 rs1380291300 |
561 | E>missing | Hereditary spastic paraplegia 45 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs10883841 CA378175168 |
3 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5671216 rs777401549 |
7 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs762409585 CA378175094 |
8 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5671214 rs749601574 |
8 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378175091 rs749601574 COSM914307 |
8 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762409585 CA5671215 |
8 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756539515 CA5671212 |
12 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5671213 rs756539515 |
12 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750539988 CA5671211 |
13 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs370777380 CA5671210 |
14 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 15 | M>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5671209 rs757325798 |
15 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764397310 CA5671207 |
19 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA378174926 rs1288051491 |
21 | K>M | No |
ClinGen TOPMed |
|
|
rs752470288 CA5671205 |
23 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA212415152 rs751395114 |
23 | A>V | No |
ClinGen gnomAD |
|
|
CA5671204 rs765292734 |
28 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5671203 rs759339080 |
28 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378174843 rs765292734 |
28 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 29 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 30 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221445225 CA378174807 |
31 | A>T | No |
ClinGen gnomAD |
|
|
rs1340277706 CA378171867 |
36 | F>L | No |
ClinGen gnomAD |
|
|
CA378171856 rs1330033795 |
38 | N>S | No |
ClinGen gnomAD |
|
|
rs1037882773 CA212387247 |
39 | R>* | No |
ClinGen Ensembl |
|
|
rs1393472957 CA378171849 |
39 | R>L | No |
ClinGen gnomAD |
|
|
CA378171841 rs1565150621 |
40 | S>R | No |
ClinGen Ensembl |
|
|
rs1141098 COSM1345543 CA5671186 |
43 | M>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs754768761 CA5671185 |
44 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378171801 rs1302349591 |
46 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs377751446 CA5671182 |
53 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766283362 CA5671183 |
53 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400732197 CA378171727 |
56 | T>I | No |
ClinGen TOPMed |
|
|
CA378171725 rs868119072 |
57 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs868119072 CA212387207 |
57 | L>I | No |
ClinGen TOPMed |
|
|
CA377978468 rs1435920806 |
59 | V>A | No |
ClinGen gnomAD |
|
|
CA5671163 rs767057029 |
61 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA5671164 rs767057029 |
61 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5671161 rs773930069 |
66 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5671159 rs759820618 |
68 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434909016 CA377978253 |
72 | L>I | No |
ClinGen TOPMed |
|
|
rs1475459121 CA377978227 |
73 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5671157 rs771587540 |
74 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs747566685 CA5671156 |
75 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA212337986 rs371125987 |
75 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs773823085 CA377978180 |
76 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773823085 CA5671155 |
76 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276787004 CA377978135 |
79 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361855351 CA377978123 |
80 | I>L | No |
ClinGen TOPMed |
|
|
CA5671153 rs143973542 |
84 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5671154 rs143973542 |
84 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377977994 COSM3806371 rs1590866563 |
87 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5671152 rs779008902 |
88 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA377977922 rs1219222884 |
90 | A>G | No |
ClinGen TOPMed |
|
|
CA5671148 rs755875749 |
93 | S>P | No |
ClinGen ExAC |
|
|
rs377735697 CA5671147 |
96 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781092106 CA5671146 |
98 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773870376 CA5671136 |
103 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | Y>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761830229 CA5671133 |
106 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1446916348 CA377977635 |
107 | G>A | No |
ClinGen gnomAD |
|
|
CA212337396 rs988179515 |
109 | L>V | No |
ClinGen Ensembl |
|
|
rs1307699666 CA377977607 |
110 | L>S | No |
ClinGen gnomAD |
|
|
rs768600364 CA5671131 |
113 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5671129 rs780137833 |
117 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292530222 CA377977521 |
118 | L>V | No |
ClinGen gnomAD |
|
|
CA377977463 rs1311918940 |
123 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377977392 rs1294543190 |
129 | R>S | No |
ClinGen gnomAD |
|
|
rs1590855130 CA377977389 |
130 | G>R | No |
ClinGen Ensembl |
|
|
CA5671098 rs753518728 |
131 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377976435 rs1590791442 |
134 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 140 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377976316 rs1195771135 |
142 | I>N | No |
ClinGen TOPMed |
|
|
CA377976289 rs1339375757 |
144 | R>Q | No |
ClinGen gnomAD |
|
|
rs765462890 CA5671091 |
148 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA377976214 rs1315333509 |
150 | F>L | No |
ClinGen gnomAD |
|
|
rs372800976 CA5671089 |
152 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5671088 rs372800976 |
152 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377976138 rs1298943557 |
155 | T>I | No |
ClinGen gnomAD |
|
|
CA377976127 rs1369817879 |
157 | F>L | No |
ClinGen TOPMed |
|
|
CA377976117 rs1453456442 |
158 | N>S | No |
ClinGen gnomAD |
|
|
CA377976106 rs1387152557 |
160 | P>S | No |
ClinGen gnomAD |
|
|
rs1267748680 CA377976077 |
162 | T>I | No |
ClinGen gnomAD |
|
|
rs200072674 CA212333879 |
163 | Y>F | No |
ClinGen 1000Genomes |
|
|
rs1340184014 CA377976046 |
167 | C>Y | No |
ClinGen gnomAD |
|
|
rs762980266 RCV000498514 |
169 | V>missing | No |
ClinVar dbSNP |
|
|
CA377976010 rs1564959973 |
172 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 172 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377976005 rs1217247926 |
173 | T>I | No |
ClinGen Ensembl |
|
| rs1348834719 | 173 | T>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5671078 rs779561888 |
174 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA212333851 rs944301157 |
176 | P>S | No |
ClinGen Ensembl |
|
|
CA377975971 rs1425381216 |
178 | Y>C | No |
ClinGen gnomAD |
|
|
rs1161337034 CA377975962 |
179 | T>I | No |
ClinGen gnomAD |
|
|
CA5671048 rs760856784 |
181 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA5671047 rs761543688 |
183 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305679810 CA377975919 |
184 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1166034561 CA377975873 |
190 | L>H | No |
ClinGen gnomAD |
|
|
COSM914304 rs1038398074 CA212328499 |
195 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5671044 rs774448444 |
195 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5671043 rs768651632 |
199 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212328481 rs952030661 |
199 | Q>H | No |
ClinGen Ensembl |
|
|
CA5671042 rs762580200 |
200 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1564954073 CA377975779 |
203 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 203 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769321277 CA5671040 |
206 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs745543095 CA5671039 |
207 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA377975744 rs1288943666 |
209 | H>N | No |
ClinGen gnomAD |
|
|
CA377975735 rs1228743384 |
210 | Y>H | No |
ClinGen gnomAD |
|
|
rs1453382388 CA377975635 |
222 | L>P | No |
ClinGen gnomAD |
|
|
rs1359934879 CA377975633 |
223 | E>K | No |
ClinGen gnomAD |
|
|
rs774747772 CA5671014 |
224 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1431496089 CA377975603 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
CA377975589 rs1355588604 |
226 | V>A | No |
ClinGen TOPMed |
|
|
rs758139320 CA5670980 |
232 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5670978 rs765117850 |
233 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5670979 rs752467649 |
233 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1249138765 CA377975042 |
235 | L>F | No |
ClinGen gnomAD |
|
|
CA377975039 rs1288561387 |
235 | L>P | No |
ClinGen TOPMed |
|
|
rs754895062 CA5670977 |
241 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226896141 CA377974978 |
242 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753745374 CA5670976 |
246 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs148650444 CA5670974 |
248 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148650444 CA5670975 |
248 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767133782 CA5670972 |
250 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1198924217 CA377974771 |
253 | Y>* | No |
ClinGen gnomAD |
|
|
rs763260782 CA5670971 |
253 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA377974723 rs1344739408 |
256 | T>R | No |
ClinGen gnomAD |
|
|
rs1270090631 CA377974696 |
257 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761579995 CA5670951 |
261 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670947 rs771861546 |
268 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA377973421 rs1233408367 |
270 | P>R | No |
ClinGen gnomAD |
|
|
CA5670946 rs771497418 |
271 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473918831 CA377972626 |
275 | S>P | No |
ClinGen gnomAD |
|
|
rs375733478 CA212324755 |
277 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5670923 rs774639543 |
277 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1028613768 CA212324742 |
280 | Q>* | No |
ClinGen gnomAD |
|
|
rs1028613768 CA377972547 |
280 | Q>E | No |
ClinGen gnomAD |
|
|
rs199588287 CA212324740 |
280 | Q>P | No |
ClinGen 1000Genomes |
|
|
rs768829960 CA5670922 |
281 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377972409 rs1306826286 |
288 | V>A | No |
ClinGen gnomAD |
|
|
rs1332301894 CA377972386 |
290 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 290 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5670919 rs769548902 |
291 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775316562 CA5670920 |
291 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1009620186 CA212324702 |
296 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1234315434 CA377972211 |
296 | F>V | No |
ClinGen TOPMed |
|
|
CA377972142 rs1564924220 |
300 | T>I | No |
ClinGen Ensembl |
|
|
rs1040981100 CA212324689 |
301 | V>I | No |
ClinGen TOPMed |
|
|
rs745869293 CA5670917 |
303 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs780974514 CA5670916 |
303 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1463329393 CA377972050 |
307 | T>A | No |
ClinGen gnomAD |
|
|
rs1415972113 CA377972041 |
307 | T>S | No |
ClinGen gnomAD |
|
|
CA377971939 rs1188927869 |
310 | G>S | No |
ClinGen gnomAD |
|
|
CA377971923 rs1466026056 |
311 | K>Q | No |
ClinGen gnomAD |
|
|
CA377971919 rs1258565894 |
311 | K>R | No |
ClinGen gnomAD |
|
|
rs926878263 CA212324445 |
314 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776631372 CA5670896 |
315 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1328439123 CA377971824 |
316 | T>A | No |
ClinGen TOPMed |
|
|
CA5670894 rs746549118 |
320 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747868392 CA5670891 |
323 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258460570 CA377971704 |
323 | H>R | No |
ClinGen TOPMed |
|
|
CA5670892 rs747868392 |
323 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590671523 CA377971688 |
324 | G>A | No |
ClinGen Ensembl |
|
|
rs913937142 CA212324421 |
326 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 329 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026230956 CA377971474 |
330 | G>A | No |
ClinGen TOPMed |
|
|
CA212323725 rs1026230956 |
330 | G>D | No |
ClinGen TOPMed |
|
|
rs1359768582 CA377971599 |
330 | G>R | No |
ClinGen gnomAD |
|
|
CA5670874 rs200840268 |
334 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs990110554 CA212323694 |
334 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5670875 rs200840268 |
334 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 342 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 345 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5670868 rs752068317 |
355 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs758473809 CA5670866 |
363 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA377970939 rs1250013727 |
363 | R>W | No |
ClinGen gnomAD |
|
|
COSM914303 CA16602791 rs1057519866 |
367 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1354856276 CA377970870 |
368 | T>P | No |
ClinGen gnomAD |
|
|
CA377970855 rs1308582415 |
369 | F>I | No |
ClinGen gnomAD |
|
|
CA5670863 rs759724715 |
369 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA377970831 rs1297450948 |
370 | L>S | No |
ClinGen gnomAD |
|
|
rs1188110455 CA377970790 |
373 | P>S | No |
ClinGen TOPMed |
|
|
rs576234674 CA5670861 |
374 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867468436 CA212323600 |
376 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA377970745 rs1159951134 |
376 | A>V | No |
ClinGen TOPMed |
|
|
CA5670859 rs773287742 COSM4135641 |
377 | Q>* | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1227991196 CA377970712 |
378 | E>K | No |
ClinGen gnomAD |
|
|
rs201418244 CA5670857 |
385 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5670856 rs774055847 |
385 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670854 rs768184845 |
386 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670836 rs774430005 |
387 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670835 rs763574435 |
388 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355837934 CA377969725 |
391 | E>K | No |
ClinGen TOPMed |
|
|
rs184419317 CA212322221 |
392 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA212322219 rs373379361 |
393 | Q>* | No |
ClinGen ESP TOPMed |
|
|
rs769443981 CA5670832 |
396 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1319809123 CA377969637 |
398 | F>L | No |
ClinGen gnomAD |
|
|
CA377969641 rs1297260676 |
398 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16602793 rs1057519868 |
407 | D>A | No |
ClinGen Ensembl |
|
|
rs374172381 CA5670805 |
412 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5670804 rs558105444 |
413 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
CA5670800 rs759224877 |
418 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533660770 CA212321650 COSM3806370 |
419 | I>V | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
| TCGA novel | 421 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5670799 COSM290582 rs776259786 |
422 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5670798 rs772482387 |
422 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147120336 CA212321629 |
423 | I>T | No |
ClinGen ESP |
|
|
CA212321618 rs779181180 |
424 | K>N | No |
ClinGen gnomAD |
|
|
rs1590597916 CA377969231 |
425 | K>T | No |
ClinGen Ensembl |
|
|
rs1433755096 CA377969171 |
430 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775844720 CA5670770 |
431 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1355702812 COSM1286707 CA377969118 |
436 | M>I | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1017476982 CA212321344 |
437 | M>L | No |
ClinGen Ensembl |
|
|
CA377969100 rs1272078839 |
439 | S>N | No |
ClinGen gnomAD |
|
|
rs771233729 CA5670766 |
441 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA212321309 rs985929069 |
442 | R>C | No |
ClinGen gnomAD |
|
|
CA5670765 rs747179682 |
446 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222615420 CA377969057 |
446 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1443548253 CA377969027 |
450 | F>L | No |
ClinGen gnomAD |
|
|
rs1048621280 CA377969006 |
453 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1431600760 CA377969000 |
454 | V>A | No |
ClinGen gnomAD |
|
|
CA212321298 rs1030219633 COSM1217966 |
456 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs948869581 CA212321293 |
459 | D>E | No |
ClinGen TOPMed |
|
|
CA5670763 rs758124987 |
460 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA377968955 rs1260681713 |
461 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA377968942 rs1452264387 |
463 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377968933 rs1266276091 |
464 | S>F | No |
ClinGen gnomAD |
|
|
rs1186701443 CA377968917 |
467 | N>D | No |
ClinGen gnomAD |
|
|
CA377968912 rs1180354638 |
467 | N>I | No |
ClinGen TOPMed |
|
|
rs1180354638 CA377968913 |
467 | N>S | No |
ClinGen TOPMed |
|
|
rs1420688161 CA377968898 |
470 | Y>H | No |
ClinGen TOPMed |
|
|
CA377968885 rs138710030 |
471 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377968812 rs1353695413 |
482 | V>I | No |
ClinGen gnomAD |
|
|
CA377968417 rs1352405866 |
486 | H>N | No |
ClinGen gnomAD |
|
|
CA377968412 rs1169468160 |
486 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377968301 rs932084884 |
494 | H>Q | No |
ClinGen TOPMed |
|
|
rs749191440 CA5670740 |
494 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs779604935 CA5670739 |
495 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs755564008 CA5670738 |
496 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1294497468 CA377968283 |
496 | D>H | No |
ClinGen TOPMed |
|
|
rs1055812 CA212320530 |
497 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767007558 CA5670736 |
497 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1055812 CA5670737 |
497 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758818955 CA5670735 |
499 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150204690 CA5670734 |
501 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335692779 CA377968178 |
503 | P>L | No |
ClinGen gnomAD |
|
|
rs908461351 CA212320486 |
506 | T>I | No |
ClinGen TOPMed |
|
|
rs760164136 CA5670732 |
507 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5670733 rs765678401 |
507 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1470311 rs777275675 CA5670731 |
509 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377968110 rs1307540476 |
509 | R>H | No |
ClinGen gnomAD |
|
|
rs370709938 CA5670729 |
510 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370709938 CA377968100 |
510 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 516 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461698758 CA377968010 |
517 | T>A | No |
ClinGen gnomAD |
|
|
CA5670726 rs772144701 |
518 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA377967961 rs1456904440 |
520 | K>N | No |
ClinGen gnomAD |
|
|
CA377967965 rs1564895967 |
520 | K>R | No |
ClinGen Ensembl |
|
|
rs774169900 CA5670724 |
521 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777429683 CA5670725 |
521 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670723 rs368467266 |
522 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212320409 rs140984378 |
523 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5670722 rs779906226 |
523 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377967895 rs1355682373 |
526 | R>L | No |
ClinGen gnomAD |
|
|
CA377967891 rs1355682373 |
526 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5670719 rs745326714 |
526 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5670717 rs756913240 |
528 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA595690138 rs1308335620 |
529 | S>T | No |
ClinGen gnomAD |
|
|
CA5670716 rs373910623 |
530 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377967835 rs1244653844 |
531 | I>V | No |
ClinGen TOPMed |
|
|
CA377967777 rs1264223560 |
535 | N>S | No |
ClinGen TOPMed |
|
|
CA212320386 rs1052439538 |
536 | L>I | No |
ClinGen Ensembl |
|
|
CA377967722 rs1247558433 |
540 | A>T | No |
ClinGen TOPMed |
|
|
rs200203060 CA5670715 |
540 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3740387 CA377967592 |
549 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760841185 CA5670710 |
550 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377967562 rs1451220173 |
553 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs116702241 CA5670707 |
554 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 555 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377967543 rs1311075282 |
556 | E>G | No |
ClinGen TOPMed |
|
|
rs1206960776 CA377967513 |
560 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 560 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768451372 CA5670695 |
561 | E>* | No |
ClinGen ExAC gnomAD |
1 associated diseases with P49902
[MIM: 613162]: Spastic paraplegia 45, autosomal recessive (SPG45)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest intellectual disability, contractures and learning disability. {ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:28884889}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest intellectual disability, contractures and learning disability. {ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:28884889}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P49902
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P49902 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.77 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 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. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| 5'-nucleotidase activity | Catalysis of the reaction: a 5'-ribonucleotide + H2O = a ribonucleoside + phosphate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| GMP 5'-nucleotidase activity | Catalysis of the reaction: 5'-GMP + H2O = guanosine + phosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| IMP 5'-nucleotidase activity | Catalysis of the reaction: 5'-IMP + H2O = inosine + phosphate. |
| metal ion binding | Binding to a metal ion. |
| nucleoside phosphotransferase activity | Catalysis of the reaction: a nucleotide + a 2'-deoxynucleoside = a nucleoside + a 2'-deoxynucleoside 5'-monophosphate. |
| XMP 5'-nucleosidase activity | Catalysis of the reaction: 5'XMP + H20 = phosphate + xanthosine. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| adenosine metabolic process | The chemical reactions and pathways involving adenosine, adenine riboside, a ribonucleoside found widely distributed in cells of every type as the free nucleoside and in combination in nucleic acids and various nucleoside coenzymes. |
| allantoin metabolic process | The chemical reactions and pathways involving allantoin, (2,5-dioxo-4-imidazolidinyl)urea, an intermediate or end product of purine catabolism. |
| dGMP metabolic process | The chemical reactions and pathways involving dGMP, deoxyguanosine monophosphate (2'-deoxyguanosine 5'-phosphate). |
| GMP metabolic process | The chemical reactions and pathways involving GMP, guanosine monophosphate. |
| IMP catabolic process | The chemical reactions and pathways resulting in the breakdown of IMP, inosine monophosphate. |
| IMP metabolic process | The chemical reactions and pathways involving IMP, inosine monophosphate. |
| nucleotide phosphorylation | The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3V1L4 | Nt5c2 | Cytosolic purine 5'-nucleotidase | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTSWSDRLQ | NAADMPANMD | KHALKKYRRE | AYHRVFVNRS | LAMEKIKCFG | FDMDYTLAVY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KSPEYESLGF | ELTVERLVSI | GYPQELLSFA | YDSTFPTRGL | VFDTLYGNLL | KVDAYGNLLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CAHGFNFIRG | PETREQYPNK | FIQRDDTERF | YILNTLFNLP | ETYLLACLVD | FFTNCPRYTS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CETGFKDGDL | FMSYRSMFQD | VRDAVDWVHY | KGSLKEKTVE | NLEKYVVKDG | KLPLLLSRMK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVGKVFLATN | SDYKYTDKIM | TYLFDFPHGP | KPGSSHRPWQ | SYFDLILVDA | RKPLFFGEGT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLRQVDTKTG | KLKIGTYTGP | LQHGIVYSGG | SSDTICDLLG | AKGKDILYIG | DHIFGDILKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KKRQGWRTFL | VIPELAQELH | VWTDKSSLFE | ELQSLDIFLA | ELYKHLDSSS | NERPDISSIQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RRIKKVTHDM | DMCYGMMGSL | FRSGSRQTLF | ASQVMRYADL | YAASFINLLY | YPFSYLFRAA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HVLMPHESTV | EHTHVDINEM | ESPLATRNRT | SVDFKDTDYK | RHQLTRSISE | IKPPNLFPLA |
| 550 | 560 | ||||
| PQEITHCHDE | DDDEEEEEEE | E |