P28288
PR
Gene name |
ABCD3 |
Protein name |
ATP-binding cassette sub-family D member 3 |
Names |
70 kDa peroxisomal membrane protein, PMP70 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5825 |
EC number |
|
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
1 structures for P28288
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P28288-F1 | Predicted | AlphaFoldDB |
391 variants for P28288
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000891369 RCV003117638 CA960052 rs142075958 |
52 | G>V | Congenital bile acid synthesis defect 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775776122 CA959973 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346373361 CA341294783 |
3 | A>T | No |
ClinGen gnomAD |
|
|
CA959975 rs150616788 |
3 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485067470 CA341294810 |
5 | S>G | No |
ClinGen gnomAD |
|
|
CA341294808 rs1485067470 |
5 | S>R | No |
ClinGen gnomAD |
|
|
CA341294829 rs1570723044 |
6 | K>T | No |
ClinGen Ensembl |
|
|
CA341294842 rs1205345087 |
7 | Y>C | No |
ClinGen gnomAD |
|
|
CA341294854 rs1253617529 |
8 | L>S | No |
ClinGen gnomAD |
|
|
CA341294873 rs1180888354 |
10 | A>T | No |
ClinGen gnomAD |
|
|
CA341294899 rs1171696433 |
12 | N>S | No |
ClinGen gnomAD |
|
|
rs767019118 CA959978 |
12 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341294926 rs1381211636 |
14 | S>L | No |
ClinGen TOPMed |
|
|
rs1393271921 CA341294944 |
16 | A>V | No |
ClinGen gnomAD |
|
|
rs121917999 RCV000030895 CA130190 VAR_000091 |
17 | G>D | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
|
rs942454190 CA26875953 |
18 | A>V | No |
ClinGen TOPMed |
|
|
CA341294973 rs1308849332 |
19 | A>S | No |
ClinGen gnomAD |
|
|
rs756063558 CA959981 |
20 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs747232088 CA959985 |
23 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747232088 CA959986 |
23 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776642612 CA959987 |
24 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA341295039 rs1261934239 |
25 | L>R | No |
ClinGen gnomAD |
|
|
rs1228582137 CA341295038 |
25 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA959988 rs745962477 |
26 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA341295046 rs745962477 |
26 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs554914466 CA959989 |
27 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341295052 CA26875984 rs867881140 |
27 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA341295061 rs1194892650 |
29 | R>G | No |
ClinGen gnomAD |
|
|
rs576360944 CA26876017 |
33 | L>V | No |
ClinGen Ensembl |
|
|
CA959992 rs769047186 |
37 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769047186 CA959993 |
37 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206916905 CA341293275 |
39 | K>E | No |
ClinGen gnomAD |
|
|
CA960023 rs371197873 |
39 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs75418934 CA960024 |
41 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341293289 rs1257099121 |
41 | G>R | No |
ClinGen TOPMed |
|
|
CA26865664 rs950089324 |
42 | K>I | No |
ClinGen gnomAD |
|
|
rs574371469 CA960025 |
43 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA960026 rs777605340 |
44 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557671462 CA341293313 |
45 | L>* | No |
ClinGen Ensembl |
|
|
CA341293312 rs1233197761 |
45 | L>V | No |
ClinGen TOPMed |
|
|
CA960028 rs376847188 |
48 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373581476 CA960027 |
48 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370710075 CA960029 |
49 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1570778922 CA341294271 |
50 | K>E | No |
ClinGen Ensembl |
|
|
CA341294296 rs1310141849 |
51 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA960051 rs763850381 |
51 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200013693 CA960053 |
53 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766597210 CA960054 |
53 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs16946 CA341294318 |
54 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755005574 CA960056 |
56 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557674259 CA341294336 |
57 | A>V | No |
ClinGen Ensembl |
|
|
rs1241046304 CA341294346 |
59 | V>A | No |
ClinGen gnomAD |
|
|
rs748579718 CA960058 |
59 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA960059 rs759013910 |
60 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA26870055 rs1054953872 |
61 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs374901500 CA341294361 |
61 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776145069 CA960063 |
66 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960065 COSM1345021 COSM1345022 rs769166618 |
68 | I>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA960066 rs775108060 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs565749696 CA960068 |
74 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA960067 rs762842137 |
74 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196708878 CA341294565 |
78 | T>A | No |
ClinGen gnomAD |
|
|
rs774071471 CA960069 |
80 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341294592 rs1244574221 |
80 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341294624 rs1384968739 |
82 | E>G | No |
ClinGen TOPMed |
|
|
CA341295154 rs1436604531 |
87 | V>I | No |
ClinGen TOPMed |
|
|
CA960081 rs541543507 |
88 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA26872239 rs1014571901 |
91 | V>I | No |
ClinGen TOPMed |
|
|
CA341295189 CA26872256 rs905583862 |
92 | M>I | No |
ClinGen gnomAD |
|
|
rs768509467 CA960085 |
92 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs774263843 CA960086 |
94 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771739876 CA960088 |
95 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs773098054 CA960089 |
97 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs765518807 CA960091 |
105 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1192333955 CA341295273 |
105 | Q>H | No |
ClinGen TOPMed |
|
|
CA341295280 rs1469663701 |
106 | N>S | No |
ClinGen TOPMed |
|
|
rs1570791478 CA341296086 |
112 | S>R | No |
ClinGen Ensembl |
|
|
CA341296098 rs1216962980 |
113 | G>V | No |
ClinGen TOPMed |
|
|
CA341296105 rs1369106545 |
114 | I>V | No |
ClinGen TOPMed |
|
|
CA26875880 rs868842232 |
116 | G>V | No |
ClinGen Ensembl |
|
|
RCV000994049 CA341296142 rs1474614063 |
117 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA341296145 rs1170362881 |
117 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341296165 rs1463422701 |
118 | S>N | No |
ClinGen gnomAD |
|
|
rs905300595 CA26875891 |
119 | R>K | No |
ClinGen TOPMed |
|
|
CA26875895 rs995983552 |
120 | K>R | No |
ClinGen TOPMed |
|
|
CA960104 rs768138817 |
125 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs757626851 CA960106 |
128 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA960109 rs138378383 |
131 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341296432 rs1220846921 |
132 | A>S | No |
ClinGen gnomAD |
|
|
rs1336676014 CA341296446 |
133 | M>L | No |
ClinGen gnomAD |
|
|
CA341296502 rs1231372126 |
135 | L>F | No |
ClinGen gnomAD |
|
|
CA341296497 rs1231372126 |
135 | L>V | No |
ClinGen gnomAD |
|
|
CA960122 rs753464068 |
136 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754664540 CA960123 |
136 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA26876543 rs753464068 |
136 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1181376 CA341298446 rs1271630156 COSM1181375 |
142 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1405303889 CA341298534 |
144 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs111707969 CA26876570 |
148 | N>D | No |
ClinGen Ensembl |
|
|
CA960127 rs777761655 |
149 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341298751 rs1420138415 |
155 | R>* | No |
ClinGen gnomAD |
|
|
rs1258059142 CA341298779 |
156 | V>A | No |
ClinGen TOPMed |
|
|
CA960129 rs201088281 |
157 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418623646 CA341298824 |
159 | T>A | No |
ClinGen gnomAD |
|
|
rs1328291240 CA341298835 |
159 | T>I | No |
ClinGen TOPMed |
|
|
CA960130 rs776609408 |
161 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs560793659 CA960132 |
163 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1392997867 CA341298991 |
166 | Y>C | No |
ClinGen gnomAD |
|
|
CA960134 rs761962129 |
166 | Y>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA960146 rs777199184 |
168 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341299145 rs1256593637 |
169 | A>P | No |
ClinGen gnomAD |
|
|
CA341299142 rs1256593637 |
169 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA960147 rs746935528 |
170 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760078481 CA26876821 |
172 | Y>C | No |
ClinGen Ensembl |
|
|
rs1476795168 CA341299472 |
182 | I>L | No |
ClinGen gnomAD |
|
|
rs189779741 CA26876835 |
182 | I>T | No |
ClinGen 1000Genomes |
|
|
rs566740164 CA26876836 |
183 | A>T | No |
ClinGen 1000Genomes |
|
|
CA341299555 rs1190261030 |
185 | P>L | No |
ClinGen gnomAD |
|
|
rs370756939 CA960151 |
189 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774706271 CA960152 |
190 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA960153 rs532835950 |
193 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA960154 rs772167305 |
196 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs761202157 CA960156 |
197 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766893314 CA960157 |
198 | N>Y | No |
ClinGen ExAC |
|
|
rs1293127233 CA341299911 |
199 | S>G | No |
ClinGen gnomAD |
|
|
rs374227095 CA960158 |
200 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1570794029 CA341300022 |
202 | D>G | No |
ClinGen Ensembl |
|
|
CA341300796 rs1355916893 |
211 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA26878003 rs1007679766 |
214 | I>M | No |
ClinGen TOPMed |
|
|
CA341300875 rs1347822581 |
215 | V>I | No |
ClinGen TOPMed |
|
|
CA960173 rs772216308 |
217 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1557679774 CA341300952 |
218 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777861735 CA960174 |
218 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341300938 rs1217509963 |
218 | I>V | No |
ClinGen gnomAD |
|
|
CA341301004 CA341301006 rs1354799155 |
220 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747106886 CA960175 |
222 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777109063 CA960177 |
224 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760083671 CA960178 |
225 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570797426 CA341301100 |
227 | A>V | No |
ClinGen Ensembl |
|
|
rs1354873076 CA341301114 |
228 | Q>H | No |
ClinGen TOPMed |
|
|
CA341301689 rs1222850661 |
230 | P>A | No |
ClinGen TOPMed |
|
|
CA960225 rs760109458 |
231 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538746918 CA960226 |
231 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA341301701 rs1318641608 |
232 | S>N | No |
ClinGen TOPMed |
|
|
rs1570799869 CA341301705 |
232 | S>R | No |
ClinGen Ensembl |
|
|
CA960228 CA341301721 rs759558941 |
234 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1185942833 CA341301719 |
234 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1031064011 CA26879367 |
236 | Y>C | No |
ClinGen TOPMed |
|
|
CA341301753 rs1347692207 |
239 | V>A | No |
ClinGen TOPMed |
|
|
rs865884256 CA26879375 |
240 | S>F | No |
ClinGen Ensembl |
|
|
CA341301767 rs1276380729 |
242 | L>V | No |
ClinGen TOPMed |
|
|
CA960231 rs757411709 |
244 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767729300 CA341301791 |
246 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767729300 CA960232 |
246 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA26879388 rs1023581453 |
246 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1299713122 CA341301811 |
248 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750708509 CA960233 |
248 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA26879395 rs867878960 |
250 | P>H | No |
ClinGen Ensembl |
|
|
rs200227121 CA960235 |
251 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341301867 rs1175174553 |
253 | K>E | No |
ClinGen TOPMed |
|
|
rs749731700 CA960236 |
254 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA341301891 rs1408648037 |
254 | M>R | No |
ClinGen Ensembl |
|
|
rs755543395 CA960237 |
256 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA26879412 rs990573934 |
260 | K>M | No |
ClinGen gnomAD |
|
|
CA341301968 rs990573934 |
260 | K>R | No |
ClinGen gnomAD |
|
|
CA341301986 rs1440854818 |
261 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 264 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA960241 rs772995029 |
271 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540924146 CA960240 |
271 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA960243 rs770315326 |
273 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA960242 rs746733182 |
273 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023363689 CA26879461 |
274 | T>A | No |
ClinGen Ensembl |
|
|
rs758822847 CA960258 |
276 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA960259 rs778331383 |
280 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1447450507 CA341302628 |
289 | K>E | No |
ClinGen gnomAD |
|
|
rs1302169997 CA341302659 |
293 | H>L | No |
ClinGen gnomAD |
|
|
CA26880940 rs1006712462 |
293 | H>Q | No |
ClinGen TOPMed |
|
|
rs1464392869 CA341302655 |
293 | H>Y | No |
ClinGen gnomAD |
|
|
CA341302684 rs1397062618 |
297 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA960283 rs780891098 |
300 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs373742092 CA26883932 |
305 | N>H | No |
ClinGen Ensembl |
|
|
rs1247981365 CA341303020 |
309 | F>L | No |
ClinGen gnomAD |
|
|
rs1487261559 CA341303021 |
310 | R>G | No |
ClinGen gnomAD |
|
|
CA960286 rs779576463 |
310 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs564987217 CA341303039 |
313 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960287 rs564987217 |
313 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768648731 CA960288 |
316 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960289 rs773962577 |
319 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745958719 CA960291 |
321 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341303253 rs975487261 |
324 | L>F | No |
ClinGen gnomAD |
|
|
CA26884013 rs975487261 |
324 | L>V | No |
ClinGen gnomAD |
|
|
CA341303329 rs1388591081 |
328 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779494591 CA960304 |
331 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA26884027 rs372974486 |
333 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA960306 rs754846454 |
335 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778909026 CA960307 |
335 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341303499 COSM3790363 rs1570807664 |
337 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs775659549 CA960309 |
338 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341303533 rs1231372762 |
339 | D>G | No |
ClinGen gnomAD |
|
|
CA26884075 rs933953681 |
341 | S>P | No |
ClinGen Ensembl |
|
|
rs746038375 CA960311 |
342 | H>R | No |
ClinGen ExAC |
|
|
CA26884088 rs763218506 |
343 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 344 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341303615 rs1214023374 |
344 | R>G | No |
ClinGen gnomAD |
|
|
CA960313 rs775642799 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202133823 CA26884118 |
347 | K>E | No |
ClinGen 1000Genomes |
|
|
rs1442859223 CA341303683 |
347 | K>R | No |
ClinGen gnomAD |
|
|
rs1358190515 CA341303698 |
348 | S>G | No |
ClinGen TOPMed |
|
|
rs763119622 CA960314 |
348 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA341303716 rs1235714258 |
348 | S>R | No |
ClinGen gnomAD |
|
|
rs1358190515 CA341303700 |
348 | S>R | No |
ClinGen TOPMed |
|
|
CA26884124 rs764373319 |
350 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA960315 rs764134711 |
351 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs917990894 CA26884245 |
362 | R>K | No |
ClinGen TOPMed |
|
|
rs1250431140 CA341303872 |
365 | L>W | No |
ClinGen TOPMed |
|
|
rs200504644 CA26884248 |
366 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1390152195 CA341303922 |
373 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 374 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs947804378 CA26884262 |
379 | R>C | No |
ClinGen TOPMed |
|
|
CA341303960 COSM3720671 rs1272799973 |
379 | R>H | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs773503655 CA960338 |
385 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA341304001 rs1322619826 |
385 | A>S | No |
ClinGen gnomAD |
|
|
CA341304000 rs1322619826 |
385 | A>T | No |
ClinGen gnomAD |
|
|
CA26884266 rs773503655 |
385 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761712863 CA26884274 |
386 | G>A | No |
ClinGen Ensembl |
|
|
CA960340 rs766791159 |
386 | G>S | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 387 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs910134150 CA26885340 |
388 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 389 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341304040 rs1211832367 |
390 | R>Q | No |
ClinGen gnomAD |
|
|
COSM158813 CA26885356 rs757515840 |
390 | R>W | large_intestine Variant assessed as Somatic; 9.252e-05 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341304059 rs1311177884 |
393 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341304088 rs1398253283 |
397 | V>I | No |
ClinGen TOPMed |
|
|
rs961655439 CA26885374 |
402 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341304129 rs1193165529 |
403 | H>N | No |
ClinGen gnomAD |
|
|
CA341304132 rs1246204926 |
403 | H>R | No |
ClinGen gnomAD |
|
|
CA960357 rs374518219 |
405 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA960358 rs771254875 |
405 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960360 rs759180503 |
408 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA26885428 rs1051585476 |
409 | T>I | No |
ClinGen TOPMed |
|
|
CA26885429 rs548889509 |
410 | M>V | No |
ClinGen gnomAD |
|
|
rs764800464 CA960361 |
411 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265411174 CA341304194 |
413 | Q>K | No |
ClinGen gnomAD |
|
|
rs1313405193 CA341304208 |
414 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA960362 rs752459389 |
416 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA960381 rs746212775 |
418 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA960382 rs375932311 |
422 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs891756768 CA26885516 |
423 | V>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 424 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148848670 CA960383 |
425 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341304290 rs1202340033 |
425 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341304294 rs1457857990 |
426 | L>V | No |
ClinGen gnomAD |
|
|
CA960384 rs762703708 |
427 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368464954 CA960385 |
428 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418180886 CA341304316 |
429 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1176435408 CA341304342 |
433 | I>T | No |
ClinGen gnomAD |
|
|
CA341304354 rs774018765 |
435 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960386 rs774018765 |
435 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468158555 CA341304359 |
436 | A>S | No |
ClinGen gnomAD |
|
|
CA960387 rs761781505 |
436 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341304371 rs1447673101 |
438 | N>D | No |
ClinGen gnomAD |
|
|
rs750444798 CA960389 |
439 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA341304379 rs750444798 |
439 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1165604785 CA341304420 |
443 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 445 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760711704 CA960410 |
445 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422985096 CA341304441 |
446 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA26886341 rs369427758 |
448 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1361639998 CA341304459 |
449 | T>A | No |
ClinGen gnomAD |
|
|
rs535940044 CA960412 |
449 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341304464 rs1258633257 |
450 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764306710 CA960414 |
451 | N>S | No |
ClinGen ExAC |
|
| TCGA novel | 452 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000709265 CA26886352 |
453 | D>V | No |
ClinGen Ensembl |
|
|
CA341304503 rs1570812231 |
456 | I>L | No |
ClinGen Ensembl |
|
|
rs1228341414 CA341304511 |
457 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341304510 rs1228341414 |
457 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA26886357 rs200928224 |
457 | R>Q | No |
ClinGen gnomAD |
|
|
rs149365004 CA960417 |
458 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1356739347 CA341304515 |
458 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA960418 rs750852481 |
459 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470504045 CA341304526 |
460 | N>H | No |
ClinGen Ensembl |
|
|
CA960419 rs756662349 |
460 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1570812280 RCV000994050 CA341304538 |
461 | F>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA960443 rs373698570 |
464 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341304569 rs754457322 |
464 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754457322 CA960444 |
464 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157120351 CA341304574 |
465 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs755374294 CA960445 |
465 | S>T | No |
ClinGen ExAC |
|
|
CA341304575 rs1415531424 |
466 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341304651 rs1397751557 |
477 | C>S | No |
ClinGen TOPMed |
|
|
CA341304657 rs1331479422 |
478 | G>E | No |
ClinGen gnomAD |
|
|
rs866910928 CA26889919 |
478 | G>R | No |
ClinGen Ensembl |
|
|
rs1570822572 CA341304692 |
483 | F>S | No |
ClinGen Ensembl |
|
|
CA341304698 rs1310762836 |
484 | R>C | No |
ClinGen gnomAD |
|
|
CA26889927 COSM198678 rs937581676 |
484 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA341304708 rs1464591763 |
486 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 490 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780710188 CA960471 |
491 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1474170733 CA341304787 COSM913502 |
496 | R>C | endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA26890084 rs956037551 |
496 | R>H | No |
ClinGen TOPMed |
|
|
rs1390951408 CA341304794 |
497 | L>P | No |
ClinGen gnomAD |
|
|
CA960475 rs749101210 |
504 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960476 rs527850906 |
508 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs917331133 CA26890118 |
509 | P>L | No |
ClinGen TOPMed |
|
|
CA960488 rs764404382 |
511 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384345213 CA341305270 |
514 | M>T | No |
ClinGen gnomAD |
|
|
CA341305280 rs1420130095 |
515 | T>I | No |
ClinGen gnomAD |
|
|
rs756882410 CA960490 |
516 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA26890168 rs548030505 |
518 | T>A | No |
ClinGen Ensembl |
|
|
CA960491 rs780619753 |
520 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1419891034 CA341305335 |
524 | I>M | No |
ClinGen TOPMed |
|
|
rs1381596136 CA341305333 |
524 | I>T | No |
ClinGen gnomAD |
|
|
CA341305344 rs745383427 |
526 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs745383427 CA960492 |
526 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA341305364 rs1313259003 |
529 | R>* | No |
ClinGen gnomAD |
|
|
rs755685193 CA341305365 |
529 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755685193 CA341305366 |
529 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755685193 CA960493 |
529 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240161558 CA341305374 |
530 | E>D | No |
ClinGen gnomAD |
|
|
rs1262867467 CA341305380 |
531 | D>A | No |
ClinGen gnomAD |
|
|
CA960494 rs779951136 |
531 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341305400 rs1205114676 |
534 | R>K | No |
ClinGen gnomAD |
|
|
CA341305415 rs1243210470 |
536 | G>* | No |
ClinGen gnomAD |
|
|
rs1467536288 CA341305429 |
538 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1217483969 CA341305441 |
540 | L>V | No |
ClinGen TOPMed |
|
|
CA960505 rs202077225 |
541 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202077225 CA960504 |
541 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341305466 rs1178646992 |
543 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA960507 rs142189039 |
545 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA960508 rs775494644 |
547 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174290085 CA341305522 |
550 | Q>R | No |
ClinGen gnomAD |
|
|
CA341305534 rs1190514974 |
552 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1300151360 CA341305547 |
554 | I>V | No |
ClinGen gnomAD |
|
|
rs1394753019 CA341305563 |
556 | E>G | No |
ClinGen gnomAD |
|
|
rs779472020 CA960511 |
558 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA341305586 rs1557688622 |
560 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 561 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368011782 CA960512 |
564 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA960513 rs754898212 |
565 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs778716832 CA960514 |
567 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA341305696 rs1190764050 |
568 | M>T | No |
ClinGen TOPMed |
|
|
rs747900622 CA960515 |
569 | D>Y | No |
ClinGen ExAC |
|
|
CA960516 rs772059880 |
570 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960518 rs781552671 |
571 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA960517 rs781552671 |
571 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA960519 rs751928363 |
578 | R>ND* | No |
ClinGen ExAC |
|
|
CA960520 rs374833626 |
580 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341287889 rs1423078812 |
581 | M>V | No |
ClinGen gnomAD |
|
|
rs1258619122 CA341287903 |
583 | R>G | No |
ClinGen TOPMed |
|
|
CA341287913 COSM198680 rs1164558206 |
584 | L>S | Variant assessed as Somatic; 4.634e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341287966 rs1557691743 |
587 | H>R | No |
ClinGen Ensembl |
|
|
COSM108345 rs148480963 CA26861122 |
587 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA960552 rs758956334 |
589 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341288022 rs1286602053 |
590 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA26861140 rs1012553145 |
592 | A>S | No |
ClinGen Ensembl |
|
|
CA341288077 rs1316772324 |
594 | L>W | No |
ClinGen gnomAD |
|
|
CA960555 rs758431209 |
598 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA960556 rs763923004 |
602 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1287839294 CA341288214 |
603 | V>I | No |
ClinGen TOPMed |
|
|
rs757143436 CA960558 |
604 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA26861175 rs907440954 |
607 | G>S | No |
ClinGen gnomAD |
|
|
rs971676032 CA26861179 |
608 | Y>H | No |
ClinGen TOPMed |
|
|
CA960561 rs544267213 |
611 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146427496 CA341288517 |
612 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA960562 rs146427496 |
612 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557691806 CA341288561 COSM913505 |
614 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA960564 rs748607664 |
614 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960563 rs748607664 |
614 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403338199 CA341290237 |
617 | G>D | No |
ClinGen gnomAD |
|
|
rs771171703 CA960587 |
618 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA960589 rs745451601 |
624 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA960592 rs149215654 |
632 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307424768 CA341291634 |
638 | H>N | No |
ClinGen TOPMed |
|
|
rs1225217277 CA341291639 |
638 | H>R | No |
ClinGen gnomAD |
|
|
CA960610 rs151290108 |
639 | M>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1395435137 CA341291677 |
642 | R>K | No |
ClinGen TOPMed |
|
|
CA960612 rs748988875 |
644 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs768239556 CA960613 |
645 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA341291776 rs1405371923 |
648 | K>R | No |
ClinGen gnomAD |
|
|
rs1474222216 CA341291787 |
649 | Q>E | No |
ClinGen gnomAD |
|
|
rs773932450 CA960614 |
649 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA26868091 rs1006580787 |
650 | I>V | No |
ClinGen Ensembl |
|
|
CA960615 rs761600860 |
651 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1557696216 CA341291873 |
653 | D>V | No |
ClinGen Ensembl |
|
|
rs1426258743 CA341291883 |
654 | T>A | No |
ClinGen gnomAD |
1 associated diseases with P28288
[MIM: 616278]: Congenital bile acid synthesis defect 5 (CBAS5)
An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. {ECO:0000269|PubMed:25168382}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. {ECO:0000269|PubMed:25168382}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P28288
8 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. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| peroxisomal matrix | The volume contained within the membranes of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type transporter activity | Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane. |
| acyl-CoA hydrolase activity | Catalysis of the reaction: acyl-CoA + H2O = CoA + a carboxylate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
| long-chain fatty acid transporter activity | Enables the transfer of long-chain fatty acids from one side of a membrane to the other. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein self-association | Binding to a domain within the same polypeptide. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| bile acid and bile salt transport | The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| bile acid biosynthetic process | The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. |
| fatty acid beta-oxidation | A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| long-chain fatty acid import into peroxisome | The directed movement of long-chain fatty acids into a peroxisome. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. |
| peroxisome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules. |
| phytanic acid metabolic process | The chemical reactions and pathways involving phytanic acid. |
| response to organic cyclic compound | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| very long-chain fatty acid catabolic process | The chemical reactions and pathways resulting in the breakdown of a fatty acid which has a chain length greater than C22. |
| very long-chain fatty acid metabolic process | The chemical reactions and pathways involving a fatty acid which has a chain length greater than C22. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P31826 | yddA | Inner membrane ABC transporter ATP-binding protein YddA | Escherichia coli (strain K12) | PR |
| P33897 | ABCD1 | ATP-binding cassette sub-family D member 1 | Homo sapiens (Human) | PR |
| Q9UBJ2 | ABCD2 | ATP-binding cassette sub-family D member 2 | Homo sapiens (Human) | PR |
| O14678 | ABCD4 | Lysosomal cobalamin transporter ABCD4 | Homo sapiens (Human) | PR |
| O89016 | Abcd4 | Lysosomal cobalamin transporter ABCD4 | Mus musculus (Mouse) | PR |
| P48410 | Abcd1 | ATP-binding cassette sub-family D member 1 | Mus musculus (Mouse) | PR |
| P55096 | Abcd3 | ATP-binding cassette sub-family D member 3 | Mus musculus (Mouse) | PR |
| P16970 | Abcd3 | ATP-binding cassette sub-family D member 3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAFSKYLTA | RNSSLAGAAF | LLLCLLHKRR | RALGLHGKKS | GKPPLQNNEK | EGKKERAVVD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KVFFSRLIQI | LKIMVPRTFC | KETGYLVLIA | VMLVSRTYCD | VWMIQNGTLI | ESGIIGRSRK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DFKRYLLNFI | AAMPLISLVN | NFLKYGLNEL | KLCFRVRLTK | YLYEEYLQAF | TYYKMGNLDN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RIANPDQLLT | QDVEKFCNSV | VDLYSNLSKP | FLDIVLYIFK | LTSAIGAQGP | ASMMAYLVVS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLFLTRLRRP | IGKMTITEQK | YEGEYRYVNS | RLITNSEEIA | FYNGNKREKQ | TVHSVFRKLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EHLHNFILFR | FSMGFIDSII | AKYLATVVGY | LVVSRPFLDL | SHPRHLKSTH | SELLEDYYQS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GRMLLRMSQA | LGRIVLAGRE | MTRLAGFTAR | ITELMQVLKD | LNHGKYERTM | VSQQEKGIEG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VQVIPLIPGA | GEIIIADNII | KFDHVPLATP | NGDVLIRDLN | FEVRSGANVL | ICGPNGCGKS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SLFRVLGELW | PLFGGRLTKP | ERGKLFYVPQ | RPYMTLGTLR | DQVIYPDGRE | DQKRKGISDL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VLKEYLDNVQ | LGHILEREGG | WDSVQDWMDV | LSGGEKQRMA | MARLFYHKPQ | FAILDECTSA |
| 610 | 620 | 630 | 640 | 650 | |
| VSVDVEGYIY | SHCRKVGITL | FTVSHRKSLW | KHHEYYLHMD | GRGNYEFKQI | TEDTVEFGS |