O60218
Gene name |
AKR1B10 (AKR1B11) |
Protein name |
Aldo-keto reductase family 1 member B10 |
Names |
ARL-1, Aldose reductase-like, Aldose reductase-related protein, ARP, hARP, Small intestine reductase, SI reductase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57016 |
EC number |
1.1.1.54: 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
21 structures for O60218
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ZUA | X-ray | 125 A | X | 1-316 | PDB |
| 4GA8 | X-ray | 194 A | A | 1-316 | PDB |
| 4GAB | X-ray | 160 A | A | 1-316 | PDB |
| 4GQ0 | X-ray | 210 A | A | 1-316 | PDB |
| 4GQG | X-ray | 192 A | A | 1-316 | PDB |
| 4I5X | X-ray | 210 A | A | 1-316 | PDB |
| 4ICC | X-ray | 175 A | X | 1-316 | PDB |
| 4JIH | X-ray | 230 A | A | 1-316 | PDB |
| 4JII | X-ray | 220 A | X | 1-316 | PDB |
| 4WEV | X-ray | 145 A | X | 1-316 | PDB |
| 4XZL | X-ray | 170 A | X | 1-316 | PDB |
| 4XZM | X-ray | 175 A | X | 1-316 | PDB |
| 4XZN | X-ray | 170 A | X | 1-316 | PDB |
| 5LIK | X-ray | 205 A | X | 1-316 | PDB |
| 5LIU | X-ray | 175 A | X | 1-316 | PDB |
| 5LIW | X-ray | 175 A | X | 1-316 | PDB |
| 5LIX | X-ray | 195 A | X | 1-316 | PDB |
| 5LIY | X-ray | 205 A | X | 1-316 | PDB |
| 5M2F | X-ray | 150 A | X | 1-316 | PDB |
| 5Y7N | X-ray | 250 A | A | 1-316 | PDB |
| AF-O60218-F1 | Predicted | AlphaFoldDB |
298 variants for O60218
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs774817445 CA4493655 |
2 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369322002 rs1562928667 COSM3411601 |
3 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4493657 rs772692413 |
4 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs773276163 CA4493658 |
6 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA369322024 rs572830188 |
7 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572830188 CA4493660 |
7 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4493661 rs754091937 |
9 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs149691678 CA4493664 CA4493665 |
13 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369322079 rs1330607273 |
15 | I>T | No |
ClinGen gnomAD |
|
|
CA4493667 rs781283353 |
15 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1280067316 CA369322115 |
21 | W>S | No |
ClinGen TOPMed gnomAD |
|
| rs749890611 | 22 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369322127 rs749890611 |
22 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230908738 CA369322124 |
22 | K>R | No |
ClinGen gnomAD |
|
|
CA369322144 rs138887023 |
23 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138887023 CA4493698 |
23 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776573145 CA4493700 |
24 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4493699 rs771488063 |
24 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4493702 rs769854371 |
26 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369322170 rs1297931009 |
28 | V>L | No |
ClinGen TOPMed |
|
|
rs1297931009 CA369322168 |
28 | V>M | No |
ClinGen TOPMed |
|
|
CA4493704 rs761472134 |
31 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767386642 CA4493705 |
33 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA369322224 rs1562929517 |
36 | I>T | No |
ClinGen Ensembl |
|
|
rs892344383 CA369322233 |
37 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4493707 rs760675156 |
37 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1198519963 CA369322250 |
40 | Y>C | No |
ClinGen gnomAD |
|
|
rs144002917 CA4493712 |
41 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144002917 CA4493711 |
41 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370452533 CA4493710 |
41 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996921542 CA167011873 |
42 | H>Y | No |
ClinGen TOPMed |
|
|
CA369322264 rs1255915499 |
43 | I>V | No |
ClinGen gnomAD |
|
|
CA4493714 rs778100620 |
45 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA369322285 rs1202552408 |
46 | A>T | No |
ClinGen gnomAD |
|
|
rs1477523518 CA369322295 |
47 | Y>C | No |
ClinGen gnomAD |
|
|
CA369322301 rs1168673332 |
48 | V>D | No |
ClinGen gnomAD |
|
|
rs1028307209 CA167011884 |
48 | V>I | No |
ClinGen TOPMed |
|
|
rs757698460 CA4493716 |
49 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458770243 CA369322319 |
51 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs955364465 CA167011890 |
53 | H>R | No |
ClinGen TOPMed |
|
|
rs1301987117 CA369322343 |
54 | E>Q | No |
ClinGen gnomAD |
|
|
CA369322354 rs1198656153 |
55 | V>A | No |
ClinGen TOPMed |
|
|
CA369322382 rs749496966 |
59 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4493722 rs769056338 |
60 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4493723 rs773135869 |
60 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1211443532 CA369322390 |
61 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4493724 rs760550433 |
63 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369322426 rs1482492767 |
65 | E>D | No |
ClinGen gnomAD |
|
|
CA369322428 rs1219310730 |
66 | K>E | No |
ClinGen gnomAD |
|
|
rs770935295 CA4493725 |
67 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1488126019 CA369322440 |
68 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA369322451 rs1427373734 |
69 | K>M | No |
ClinGen gnomAD |
|
|
CA4493730 rs752209303 |
70 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4493729 rs752209303 |
70 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541818131 CA4493728 |
70 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA167011974 rs908761663 |
71 | E>K | No |
ClinGen TOPMed |
|
|
rs763744205 CA4493731 |
73 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332658900 CA369322475 |
74 | F>L | No |
ClinGen TOPMed |
|
|
rs1414376779 CA369322479 |
74 | F>S | No |
ClinGen TOPMed |
|
|
rs1414376779 CA369322478 |
74 | F>Y | No |
ClinGen TOPMed |
|
|
rs141386431 CA4493734 |
76 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369322498 rs1397759211 |
77 | S>N | No |
ClinGen gnomAD |
|
|
CA4493761 rs758605056 |
79 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs143396171 CA4493759 |
79 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs953989764 CA167012683 |
80 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4493762 rs781034480 |
80 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769711685 CA4493764 |
81 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4493763 rs745653060 |
81 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs748752793 CA4493766 |
83 | F>Y | No |
ClinGen ExAC |
|
|
rs151300112 CA4493767 |
86 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4493770 rs2303312 |
87 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4493769 rs2303312 VAR_020077 |
87 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA369322571 rs2303312 |
87 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1222831385 CA369322602 |
92 | A>T | No |
ClinGen gnomAD |
|
|
rs1585751827 CA369322612 |
93 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760962667 CA4493774 |
98 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568395530 CA167012747 |
99 | D>E | No |
ClinGen Ensembl |
|
|
CA4493776 rs754365410 |
99 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369322660 rs1257311364 |
100 | L>P | No |
ClinGen gnomAD |
|
|
CA4493777 rs755590380 |
101 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369322691 rs1472222737 |
105 | L>V | No |
ClinGen gnomAD |
|
|
CA167012779 rs563657501 |
106 | D>Y | No |
ClinGen TOPMed |
|
|
CA4493781 rs372587864 |
107 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA369322709 rs1227680120 |
108 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs745623300 CA4493782 |
109 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755888697 CA4493783 |
110 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA369322723 rs1400212055 |
110 | I>T | No |
ClinGen gnomAD |
|
|
rs779869150 CA4493784 |
111 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4493785 rs138234669 |
111 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161467816 CA369322740 |
112 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA369322736 rs1360139938 |
112 | W>* | No |
ClinGen gnomAD |
|
|
rs140738774 CA4493786 |
114 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369322753 rs1311265753 CA369322752 |
114 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4493787 rs146306673 |
115 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1001820298 CA167012810 CA167012811 |
117 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759990288 CA4493813 |
119 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA167013415 CA369322810 rs199767638 |
121 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA167013440 rs977797786 |
122 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA369322815 rs1228322889 |
122 | L>R | No |
ClinGen TOPMed |
|
|
rs866151329 CA167013445 |
123 | F>L | No |
ClinGen Ensembl |
|
|
rs770373251 CA4493814 |
124 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs139045134 CA4493815 |
125 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369322831 rs1562930252 |
125 | K>R | No |
ClinGen Ensembl |
|
|
rs763551589 CA369322843 |
127 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763551589 CA4493816 |
127 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA167013464 rs200050710 |
128 | K>E | No |
ClinGen 1000Genomes |
|
|
rs201931122 CA167013470 |
128 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 129 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307110178 CA369322873 |
131 | A>G | No |
ClinGen TOPMed |
|
|
CA4493817 rs764062612 |
131 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751722171 CA4493818 |
132 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4493819 COSM1496511 rs762021185 |
133 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM109599 CA167013514 rs148486050 |
134 | G>R | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs767733590 CA4493820 |
137 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202241431 CA4493821 |
138 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1240363170 CA369322912 |
138 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754791433 CA4493822 |
138 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA167013541 rs574158757 |
140 | D>V | No |
ClinGen 1000Genomes |
|
|
rs201265934 CA167013544 |
141 | A>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 143 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369322969 rs1278345272 |
144 | A>V | No |
ClinGen gnomAD |
|
|
rs1319148710 CA369322971 |
145 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs745488997 CA4493850 |
146 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA369322997 rs755891882 |
148 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755891882 CA4493851 |
148 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257069883 CA369323001 |
149 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4493852 rs780281780 |
149 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369323005 rs1415157276 |
150 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA369323011 rs1468618431 |
151 | E>K | No |
ClinGen TOPMed |
|
|
rs1427808653 CA369323025 |
153 | L>M | No |
ClinGen gnomAD |
|
|
CA369323033 rs1379350334 |
154 | V>G | No |
ClinGen gnomAD |
|
|
CA4493855 rs774946368 |
154 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 156 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748188770 CA4493857 |
156 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772109214 CA4493858 |
157 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773330080 CA4493859 |
159 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA369323063 rs1585755761 |
159 | V>G | No |
ClinGen Ensembl |
|
|
CA4493863 rs372195311 |
163 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372195311 CA4493862 |
163 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377213229 CA167015464 |
164 | H>Y | No |
ClinGen ESP gnomAD |
|
|
CA4493864 rs763895001 |
165 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369323126 rs1280079840 |
168 | E>D | No |
ClinGen gnomAD |
|
|
CA4493867 rs148661873 |
168 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs397842944 CA4493868 |
169 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4493871 rs141276121 |
172 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4493870 rs779772332 |
172 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167015580 rs796162477 |
174 | P>H | No |
ClinGen Ensembl |
|
|
rs1184899886 CA369323172 |
175 | G>V | No |
ClinGen gnomAD |
|
|
CA4493872 rs755403083 |
177 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369323182 rs755403083 |
177 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150738610 CA4493873 |
178 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4493875 rs772625603 |
180 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772625603 CA369323204 |
180 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1350851971 CA369323201 |
180 | P>S | No |
ClinGen TOPMed |
|
|
CA4493876 rs773208886 |
181 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA369323224 rs1294847595 |
184 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA167015619 rs1050448037 |
184 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 185 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760571364 CA4493904 |
186 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369323248 rs760571364 |
186 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369323268 rs1356409573 |
188 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA369323266 rs1356409573 |
188 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA369323277 rs1562931471 |
190 | Y>H | No |
ClinGen Ensembl |
|
|
rs1585756169 CA369323280 |
190 | Y>S | No |
ClinGen Ensembl |
|
|
CA4493905 rs765893405 |
191 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4493906 rs753347797 |
192 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369323300 rs1307204411 |
193 | Q>L | No |
ClinGen TOPMed |
|
|
COSM1448187 rs373551927 CA4493908 |
194 | E>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1212032622 CA369323320 |
196 | L>P | No |
ClinGen gnomAD |
|
|
rs1485178167 CA369323324 |
197 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753011473 CA369323331 |
198 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4493909 rs753011473 |
198 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1585756228 CA369323340 |
199 | Y>S | No |
ClinGen Ensembl |
|
|
CA369323365 rs1388322315 |
202 | S>C | No |
ClinGen TOPMed |
|
|
rs1479059327 CA369323378 |
204 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA369323380 rs1479059327 |
204 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757758746 CA4493913 |
207 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201852007 CA4493914 |
208 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4493916 rs770087364 |
209 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1414413038 CA369323404 |
209 | A>T | No |
ClinGen gnomAD |
|
|
rs1374540050 CA369323415 |
210 | Y>* | No |
ClinGen gnomAD |
|
|
rs1342487500 CA369323413 |
210 | Y>C | No |
ClinGen gnomAD |
|
|
CA369323419 rs1431628120 |
211 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780448658 CA4493917 |
211 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs530444398 CA369323423 |
211 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4493919 rs771963553 |
213 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4493921 rs746951927 |
214 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs772931851 CA4493920 |
214 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4493922 rs550212921 |
216 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4493946 rs763655379 |
220 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA369323489 rs1481379459 |
221 | A>T | No |
ClinGen gnomAD |
|
|
rs74623569 CA4493947 |
223 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376286162 CA167016284 |
223 | P>S | No |
ClinGen ESP gnomAD |
|
|
rs1233420958 CA369323518 |
225 | D>G | No |
ClinGen gnomAD |
|
|
CA4493949 rs370215939 |
225 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369323528 rs1417880710 |
226 | P>R | No |
ClinGen TOPMed |
|
|
rs1305551581 CA369323522 |
226 | P>T | No |
ClinGen TOPMed |
|
|
COSM106309 rs141614494 CA167016319 |
231 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA4493954 rs754040314 |
232 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 233 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402681829 CA369323575 |
234 | I>F | No |
ClinGen TOPMed |
|
|
CA167016326 rs866672883 |
234 | I>M | No |
ClinGen Ensembl |
|
|
CA4493955 rs755186011 |
235 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4493958 rs756970566 |
236 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751327014 CA4493957 |
236 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA369323597 rs1165817735 |
237 | I>N | No |
ClinGen gnomAD |
|
|
rs1165817735 CA369323595 |
237 | I>T | No |
ClinGen gnomAD |
|
|
rs535675157 CA4493959 |
239 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549613668 CA4493960 |
240 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA167016387 rs918591913 |
243 | K>N | No |
ClinGen TOPMed gnomAD |
|
| rs1333065534 | 244 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA167016388 rs77786363 |
244 | T>P | No |
ClinGen Ensembl |
|
|
COSM1548675 rs201321507 CA4493962 |
245 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs768309305 CA4493964 |
247 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs61735100 CA4493966 |
247 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199962125 CA167016777 |
248 | V>A | No |
ClinGen 1000Genomes |
|
|
rs1217959029 CA369323689 |
250 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4494000 rs778283237 |
251 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149850087 CA4494001 |
251 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757932541 CA4494003 |
252 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4494005 rs201705302 |
253 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4494004 rs746697858 |
253 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA167016816 rs202078387 |
254 | I>T | No |
ClinGen 1000Genomes |
|
|
rs554196746 CA4494007 |
256 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369323728 rs746355936 |
257 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746355936 CA4494009 |
257 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4494010 rs574090393 |
259 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4494013 rs775372358 |
260 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775372358 CA369323746 |
260 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449369428 CA369323770 |
263 | K>N | No |
ClinGen gnomAD |
|
|
CA4494015 rs200000745 |
265 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774527077 CA4494016 |
266 | T>K | No |
ClinGen ExAC |
|
|
CA369323789 rs1204053030 |
267 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 268 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142388608 CA4494018 |
269 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4494017 rs142388608 |
269 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146556418 CA4494019 |
269 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM370923 rs146556418 CA369323801 |
269 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146556418 CA4494020 |
269 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4494022 rs752101060 |
274 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381585380 CA369323841 |
275 | Q>R | No |
ClinGen TOPMed |
|
|
rs773515819 CA369323857 |
276 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773515819 CA4494053 |
276 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4494054 rs760854354 |
278 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333022461 CA369323879 |
279 | F>I | No |
ClinGen TOPMed |
|
|
CA369323884 rs1428077112 |
279 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1333022461 CA369323877 |
279 | F>V | No |
ClinGen TOPMed |
|
|
rs1234330238 CA369323892 |
280 | K>N | No |
ClinGen Ensembl |
|
|
CA369323895 rs1429310006 |
281 | L>* | No |
ClinGen TOPMed |
|
|
rs1314771281 CA369323894 |
281 | L>M | No |
ClinGen gnomAD |
|
|
rs1356140056 CA369323901 |
282 | S>G | No |
ClinGen gnomAD |
|
|
CA4494055 rs769617480 |
282 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1364080546 CA369323936 |
286 | M>I | No |
ClinGen gnomAD |
|
|
CA4494056 rs3735042 VAR_020078 |
286 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1459825737 CA369323941 |
287 | A>G | No |
ClinGen TOPMed |
|
|
rs762917699 CA4494057 |
287 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1262360285 CA369323945 |
288 | T>A | No |
ClinGen TOPMed |
|
|
CA4494058 rs764135857 |
289 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA369323951 rs1305353313 |
289 | I>V | No |
ClinGen gnomAD |
|
|
rs751062036 CA4494059 |
290 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751062036 CA4494060 |
290 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346446776 CA369323967 |
291 | S>R | No |
ClinGen TOPMed |
|
|
rs1249091012 CA369323984 |
294 | R>G | No |
ClinGen TOPMed |
|
|
rs1185236820 CA369324001 |
296 | W>R | No |
ClinGen gnomAD |
|
|
rs766972954 CA4494061 |
297 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4494063 rs755782533 |
299 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750070714 CA4494062 |
299 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA369324022 rs755782533 |
299 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780466117 CA4494064 |
300 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754210435 CA4494065 |
300 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369324033 rs201074083 |
301 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4494068 rs201074083 |
301 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167409743 CA369324039 |
302 | L>* | No |
ClinGen TOPMed |
|
|
rs1395012695 CA369324038 |
302 | L>M | No |
ClinGen TOPMed |
|
|
rs1167409743 CA369324041 |
302 | L>S | No |
ClinGen TOPMed |
|
|
CA4494070 rs779419227 |
303 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572616596 CA4494071 |
303 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs563438026 CA4494095 COSM3698185 |
304 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4494096 rs781593224 |
305 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746129203 CA4494097 |
308 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1471418488 CA369324101 |
309 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369324098 rs1355629626 |
309 | D>G | No |
ClinGen TOPMed |
|
|
CA167018808 rs1056397001 |
310 | Y>H | No |
ClinGen TOPMed |
|
|
rs1234861201 CA369324113 |
311 | P>R | No |
ClinGen gnomAD |
|
|
rs140467402 CA4494099 |
312 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA167018813 rs17856271 CA167018812 |
312 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4494101 VAR_013287 rs4728329 |
313 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs4728329 CA369324120 |
313 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369324121 rs4728329 |
313 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4494102 rs180742689 |
314 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1165313370 CA369324144 |
316 | Y>C | No |
ClinGen gnomAD |
|
|
rs1384899015 CA369324149 |
317 | Y>R | No |
ClinGen gnomAD |
No associated diseases with O60218
Functions
| Description | ||
|---|---|---|
| EC Number | 1.1.1.54 | 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 region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| alcohol dehydrogenase (NADP+) activity | Catalysis of the reaction: an alcohol + NADP+ = an aldehyde + NADPH + H+. |
| alditol:NADP+ 1-oxidoreductase activity | Catalysis of the reaction: an alditol + NADP+ = an aldose + NADPH + H+. |
| aldo-keto reductase (NADP) activity | Catalysis of the reaction: an alcohol + NADP+ = an aldehyde or a ketone + NADPH + H+. |
| allyl-alcohol dehydrogenase activity | Catalysis of the reaction: allyl alcohol + NADP(+) = acrolein + H(+) + NADPH. |
| geranylgeranyl reductase activity | Catalysis of the formation of phytyl group from the stepwise reduction of a geranylgeranyl group. |
| indanol dehydrogenase activity | Catalysis of the reaction: indan-1-ol + NAD(P)+ = indanone + NAD(P)H + H+. |
| NADP-retinol dehydrogenase activity | Catalysis of the reaction: all-trans-retinol + NADP+ = all-trans-retinal + NADPH + H+. |
| retinal dehydrogenase activity | Catalysis of the reaction: retinal + NAD+ + H2O = retinoate + NADH. Acts on both 11-trans and 13-cis forms of retinal. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular detoxification of aldehyde | Any process carried out at the cellular level that reduces or removes the toxicity of an aldehyde. These may include transport of aldehydes away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. |
| daunorubicin metabolic process | The chemical reactions and pathways involving daunorubicin, a chemotherapeutic of the anthracycline family that is given as a treatment for some types of cancer. |
| doxorubicin metabolic process | The chemical reactions and pathways involving doxorubicin, an anthracycline antibiotic, used in cancer chemotherapy. |
| farnesol catabolic process | The chemical reactions and pathways resulting in the breakdown of the sesquiterpenoid alcohol farnesol, 3,7,11-trimethyl-2,6,10,dodecatrien-1-ol. |
| retinoid metabolic process | The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P16116 | AKR1B1 | Aldo-keto reductase family 1 member B1 | Bos taurus (Bovine) | PR |
| P15121 | AKR1B1 | Aldo-keto reductase family 1 member B1 | Homo sapiens (Human) | PR |
| P45376 | Akr1b1 | Aldo-keto reductase family 1 member B1 | Mus musculus (Mouse) | PR |
| P45377 | Akr1b8 | Aldose reductase-related protein 2 | Mus musculus (Mouse) | PR |
| P80276 | AKR1B1 | Aldo-keto reductase family 1 member B1 | Sus scrofa (Pig) | PR |
| P07943 | Akr1b1 | Aldo-keto reductase family 1 member B1 | Rattus norvegicus (Rat) | PR |
| Q84TF0 | AKR4C10 | Aldo-keto reductase family 4 member C10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M338 | AKR4C11 | Aldo-keto reductase family 4 member C11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0PGJ6 | AKR4C9 | NADPH-dependent aldo-keto reductase, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O80944 | AKR4C8 | Aldo-keto reductase family 4 member C8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATFVELSTK | AKMPIVGLGT | WKSPLGKVKE | AVKVAIDAGY | RHIDCAYVYQ | NEHEVGEAIQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKIQEKAVKR | EDLFIVSKLW | PTFFERPLVR | KAFEKTLKDL | KLSYLDVYLI | HWPQGFKSGD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLFPKDDKGN | AIGGKATFLD | AWEAMEELVD | EGLVKALGVS | NFSHFQIEKL | LNKPGLKYKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTNQVECHPY | LTQEKLIQYC | HSKGITVTAY | SPLGSPDRPW | AKPEDPSLLE | DPKIKEIAAK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HKKTAAQVLI | RFHIQRNVIV | IPKSVTPARI | VENIQVFDFK | LSDEEMATIL | SFNRNWRACN |
| 310 | |||||
| VLQSSHLEDY | PFNAEY |