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 Q9UBJ2

Entry ID Method Resolution Chain Position Source
AF-Q9UBJ2-F1 Predicted AlphaFoldDB

489 variants for Q9UBJ2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs747881435
CA6511824
2 T>I No ClinGen
ExAC
gnomAD
rs773860547
CA6511823
3 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 4 M>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6511822
rs768562728
4 M>L No ClinGen
ExAC
gnomAD
rs1566597431
CA384401528
6 N>K No ClinGen
Ensembl
rs779933199
CA6511820
7 A>E No ClinGen
ExAC
rs749041653
CA6511821
7 A>S No ClinGen
ExAC
CA384401495
rs1287307957
8 A>V No ClinGen
gnomAD
CA6511818
rs117275340
9 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6511815
rs745758365
11 R>Q No ClinGen
ExAC
gnomAD
rs1160480470
CA384401402
13 K>T No ClinGen
gnomAD
rs1393123777
CA384401302
17 S>P No ClinGen
gnomAD
rs199684530
CA6511811
18 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA384401229
rs1472517602
20 A>V No ClinGen
TOPMed
TCGA novel 22 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1184378818
CA384401186
23 A>T No ClinGen
gnomAD
TCGA novel 24 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1485319494
CA384401171
24 A>P No ClinGen
TOPMed
gnomAD
rs1485319494
CA384401172
24 A>T No ClinGen
TOPMed
gnomAD
rs756904045
CA6511810
25 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA235298185
rs756904045
25 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs1015418351
CA235298175
25 C>W No ClinGen
TOPMed
rs1388070431
CA384401142
26 L>M No ClinGen
TOPMed
CA235298149
rs947503774
29 A>V No ClinGen
TOPMed
CA384401066
rs1294969865
32 A>T No ClinGen
TOPMed
CA384401024
rs1592003750
35 T>P No ClinGen
Ensembl
CA384401012
rs914521439
36 L>F No ClinGen
TOPMed
gnomAD
rs914521439
CA235298138
36 L>V No ClinGen
TOPMed
gnomAD
CA384400993
rs1382031972
37 Y>C No ClinGen
TOPMed
gnomAD
CA384400974
rs1362852198
38 P>L Variant assessed as Somatic; 9.501e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1374987773
CA384400950
40 I>T No ClinGen
gnomAD
CA384400956
rs1413009013
40 I>V No ClinGen
gnomAD
CA6511806
rs142507537
42 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1379334679
CA384400875
45 K>R No ClinGen
gnomAD
CA235298109
rs148402840
47 S>C No ClinGen
ESP
TOPMed
rs547432731
CA235298103
49 H>Q No ClinGen
gnomAD
CA384400809
rs547432731
49 H>Q No ClinGen
gnomAD
CA6511803
rs768203523
50 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6511802
rs768203523
50 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA384400803
rs768203523
50 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA6511800
rs775454584
51 K>T No ClinGen
ExAC
gnomAD
rs1258758968
CA384400770
53 K>N No ClinGen
TOPMed
CA384400764
rs1200564768
54 A>E No ClinGen
gnomAD
TCGA novel 54 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 54 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6511799
rs574474772
55 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745852510
CA6511798
56 A>G No ClinGen
ExAC
gnomAD
rs1566597004
CA384400747
56 A>P No ClinGen
Ensembl
CA384400714
rs1308517280
58 P>R No ClinGen
gnomAD
CA384400719
rs1227065556
58 P>S No ClinGen
gnomAD
rs772265422
CA6511796
59 A>T No ClinGen
ExAC
gnomAD
rs748185349
CA6511795
61 E>G No ClinGen
ExAC
gnomAD
rs778993146
CA6511794
62 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs77536431
CA6511793
63 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA384400639
rs1404197332
64 E>K No ClinGen
gnomAD
CA6511790
rs780438298
66 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA384400603
rs754020573
66 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 68 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384400558
rs1473996904
69 T>I No ClinGen
gnomAD
rs1592003614
CA384400547
70 E>K No ClinGen
Ensembl
CA6511786
rs762323562
71 T>A No ClinGen
ExAC
gnomAD
rs751049564
CA6511785
71 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1195787886
CA384400467
75 K>N No ClinGen
gnomAD
TCGA novel 78 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384400411
rs1212246542
79 G>E No ClinGen
gnomAD
CA6511784
rs763616857
80 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs374989744
CA235298001
81 N>H No ClinGen
ESP
CA384400332
rs1275495418
83 D>G No ClinGen
TOPMed
CA384400264
rs1334113735
86 K>I No ClinGen
gnomAD
CA6511783
rs762731548
87 Q>E No ClinGen
ExAC
TOPMed
gnomAD
COSM938967
rs1390785264
CA384400243
87 Q>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1333059727
CA384400207
89 L>P No ClinGen
gnomAD
rs139904825
CA235297988
90 E>K No ClinGen
ESP
TOPMed
CA235297983
rs200311534
91 L>P No ClinGen
1000Genomes
rs1023375791
CA235297965
92 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs962488608
CA235297970
92 R>W No ClinGen
TOPMed
gnomAD
CA384400085
rs1409666453
96 F>L No ClinGen
Ensembl
rs1188766536
CA384400077
96 F>S No ClinGen
TOPMed
RCV000676171
CA6511780
rs373396030
98 K>E No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA384400001
rs1393194038
99 L>F No ClinGen
gnomAD
CA6511779
rs776421572
100 V>E No ClinGen
ExAC
gnomAD
CA6511778
rs770791451
102 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs746919265
CA6511777
103 E>K No ClinGen
ExAC
gnomAD
TCGA novel 107 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778894311
CA6511776
107 L>I No ClinGen
ExAC
gnomAD
rs1177526076
CA384399830
108 C>S No ClinGen
TOPMed
CA235297920
rs960384952
111 S>T No ClinGen
Ensembl
rs145994192
CA235297912
112 V>L No ClinGen
ESP
TOPMed
gnomAD
CA384399637
rs1300934205
117 R>G No ClinGen
TOPMed
rs1290860282
CA384399601
118 T>I No ClinGen
TOPMed
gnomAD
CA384399615
rs1468325635
118 T>P No ClinGen
gnomAD
rs1290860282
CA384399605
118 T>S No ClinGen
TOPMed
gnomAD
rs756258266
CA6511772
120 L>F No ClinGen
ExAC
gnomAD
TCGA novel 120 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142601254
CA6511770
122 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746240904
CA6511771
122 I>V No ClinGen
ExAC
gnomAD
rs201591906
CA6511769
123 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 123 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6511767
rs138119938
126 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6511768
rs138119938
126 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA235297856
rs1028313449
129 G>R No ClinGen
TOPMed
CA384399267
rs974040132
131 I>F No ClinGen
TOPMed
CA235297838
rs974040132
131 I>L No ClinGen
TOPMed
TCGA novel 131 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1592003379
CA384399229
133 K>Q No ClinGen
Ensembl
CA6511765
rs752466432
134 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA384399174
rs752466432
134 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA384399143
rs1388193328
136 V>M No ClinGen
TOPMed
gnomAD
rs1388887587
CA384399134
137 E>K No ClinGen
gnomAD
CA384399103
rs1191109254
138 K>E No ClinGen
gnomAD
rs764987756
CA6511764
140 P>T No ClinGen
ExAC
gnomAD
rs766162060
CA384399040
141 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6511761
COSM693257
rs766162060
141 R>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6511762
rs776317283
141 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760573269
CA6511760
142 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA384399016
rs1592003330
142 T>I No ClinGen
Ensembl
CA235297769
rs185807859
143 F>L No ClinGen
1000Genomes
CA6511759
rs549683860
145 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1247693957
CA384398903
147 L>I No ClinGen
gnomAD
rs1414028696
CA384398872
148 I>M No ClinGen
TOPMed
CA384398867
rs1457599906
149 K>E No ClinGen
TOPMed
CA6511758
rs749370948
149 K>N No ClinGen
ExAC
gnomAD
CA6511757
rs749370948
149 K>N No ClinGen
ExAC
gnomAD
rs150810572
CA6511756
152 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
CA235297739
rs752263937
156 P>H No ClinGen
Ensembl
TCGA novel 159 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1288059904
CA384398628
160 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 162 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs531465164
CA6511753
164 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1343993164
CA384398525
165 R>S No ClinGen
gnomAD
CA6511752
rs757618278
166 Y>N No ClinGen
ExAC
gnomAD
CA235297701
rs1011196983
170 K>E No ClinGen
TOPMed
gnomAD
CA6511750
rs778340940
172 A>G No ClinGen
ExAC
gnomAD
CA6511751
rs747525311
172 A>T No ClinGen
ExAC
gnomAD
rs758909335
CA6511749
174 A>V No ClinGen
ExAC
TCGA novel 176 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6511748
rs752270059
178 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA384398329
rs764791765
178 R>H No ClinGen
ExAC
gnomAD
rs764791765
CA6511747
178 R>L No ClinGen
ExAC
gnomAD
rs1434596616
CA384398318
179 L>P No ClinGen
gnomAD
CA384398283
rs1174615337
181 D>A No ClinGen
gnomAD
CA6511746
rs35217341
182 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1219205420
CA384398262
183 A>T No ClinGen
TOPMed
rs1039832381
CA235297641
183 A>V No ClinGen
TOPMed
CA6511744
rs766139244
185 E>D No ClinGen
ExAC
gnomAD
CA384398226
rs1331758067
185 E>K No ClinGen
TOPMed
CA6511742
rs148301688
186 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6511743
rs148301688
186 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6511741
rs372256799
189 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384398154
rs1255545355
191 Q>H No ClinGen
gnomAD
CA384398151
rs1223273601
192 T>A No ClinGen
TOPMed
rs761685898
CA6511740
194 Y>* No ClinGen
ExAC
gnomAD
rs746123650
CA6511737
196 V>L No ClinGen
ExAC
gnomAD
CA6511738
rs746123650
196 V>M No ClinGen
ExAC
gnomAD
CA6511736
rs774743963
197 I>F No ClinGen
ExAC
gnomAD
CA6511734
rs747405988
198 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA384398100
rs1592003182
198 N>Y No ClinGen
Ensembl
CA6511733
rs778226831
199 M>T No ClinGen
ExAC
gnomAD
CA6511732
rs772728599
201 G>A No ClinGen
ExAC
gnomAD
TCGA novel 201 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748629476
CA6511731
204 A>T No ClinGen
ExAC
gnomAD
rs368375856
CA6511730
204 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs902948251
CA235297542
205 N>K No ClinGen
TOPMed
rs1041465961
CA235297535
206 P>T No ClinGen
TOPMed
TCGA novel 207 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201411952
CA235297523
COSM1181370
211 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA384397800
rs1301313172
215 M>L No ClinGen
TOPMed
CA235297516
rs200378111
215 M>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6511725
rs200378111
215 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1410969094
CA384397781
216 M>V No ClinGen
TOPMed
rs1478246275
CA384397728
218 S>C No ClinGen
Ensembl
CA235297506
rs932955719
219 Q>R No ClinGen
TOPMed
TCGA novel 220 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355541295
CA384397652
223 H>R No ClinGen
gnomAD
CA384397640
rs1473170831
224 L>F No ClinGen
gnomAD
rs767255509
CA6511723
228 L>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 229 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751475679
CA6511721
236 M>V No ClinGen
ExAC
gnomAD
TCGA novel 238 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1199057969
CA384397346
239 S>T No ClinGen
gnomAD
CA384397122
rs1227238445
248 S>F No ClinGen
gnomAD
CA6511718
rs776509690
250 G>E No ClinGen
ExAC
gnomAD
rs1286445180
CA384397060
251 A>E No ClinGen
gnomAD
CA384397053
rs1320670707
252 S>R No ClinGen
TOPMed
rs376662929
CA6511717
253 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6511715
rs201891055
254 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6511714
rs201891055
254 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6511716
rs760760553
254 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 256 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 256 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 259 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1306975066
CA384396855
261 G>E No ClinGen
gnomAD
rs768974468
CA6511711
273 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs963234559
CA235297363
280 K>E No ClinGen
TOPMed
gnomAD
rs748840539
CA235297329
281 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA384395637
rs1170858712
283 A>S No ClinGen
TOPMed
gnomAD
CA384395643
rs1170858712
283 A>T No ClinGen
TOPMed
gnomAD
CA235297325
rs558419291
285 E>G No ClinGen
Ensembl
rs755818457
CA6511708
286 A>S No ClinGen
ExAC
gnomAD
TCGA novel 286 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA235297292
rs781012632
287 H>Q No ClinGen
ExAC
TOPMed
CA384395502
rs1270880411
288 R>T No ClinGen
gnomAD
CA6511705
rs368939667
289 K>* No ClinGen
ESP
ExAC
gnomAD
rs1431004420
CA384395478
289 K>R No ClinGen
TOPMed
rs753975268
CA6511701
293 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6511702
rs753975268
293 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs373640731
CA6511703
293 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA384395375
rs1285092501
294 Y>H No ClinGen
TOPMed
TCGA novel 294 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766329449
CA6511700
296 H>L No ClinGen
ExAC
gnomAD
TCGA novel 296 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1449446888
CA384395324
296 H>Y No ClinGen
gnomAD
CA6511699
rs773549369
297 S>* No ClinGen
ExAC
gnomAD
CA6511698
rs773549369
297 S>L No ClinGen
ExAC
gnomAD
rs1566595333
CA384395228
300 I>T No ClinGen
Ensembl
TCGA novel 307 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6511693
COSM3931623
rs749715188
310 R>K urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA384394972
rs1379602584
311 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA384394964
rs1159252631
311 G>V No ClinGen
gnomAD
TCGA novel 313 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384394561
rs1450968024
314 V>G No ClinGen
gnomAD
rs1363562031
CA384394518
316 M>T No ClinGen
TOPMed
CA384394459
rs1426811947
319 L>F No ClinGen
TOPMed
gnomAD
CA235296014
rs548358484
323 Y>C No ClinGen
1000Genomes
rs1191144099
CA384394363
324 K>R No ClinGen
gnomAD
CA384394353
rs1487656008
325 A>P No ClinGen
gnomAD
CA6511672
rs775846982
331 N>K No ClinGen
ExAC
gnomAD
rs933140507
CA235296003
333 I>L No ClinGen
TOPMed
gnomAD
CA384394146
rs1336644503
333 I>T No ClinGen
TOPMed
CA384394071
rs1255939120
337 R>C No ClinGen
gnomAD
rs776062597
CA6511669
337 R>H No ClinGen
ExAC
gnomAD
CA384394054
rs1314380612
338 L>F No ClinGen
gnomAD
rs1341388131
CA384394029
339 W>C No ClinGen
gnomAD
CA6511667
rs746625113
339 W>L No ClinGen
ExAC
gnomAD
CA6511668
rs770594701
339 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA384394050
rs770594701
339 W>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 340 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1280129489
CA384393996
341 I>F No ClinGen
gnomAD
CA384393973
rs1413018230
342 M>T No ClinGen
gnomAD
rs1248219239
CA384393940
343 I>T No ClinGen
Ensembl
CA384393903
rs1399904027
345 Q>* No ClinGen
gnomAD
rs374034238
CA6511664
348 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1007040024
CA235295928
350 Y>* No ClinGen
TOPMed
CA235295921
rs758760543
354 S>I No ClinGen
gnomAD
rs758760543
CA384393713
354 S>N No ClinGen
gnomAD
TCGA novel 365 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 372 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6511662
rs754898936
373 G>S No ClinGen
ExAC
gnomAD
CA384393349
rs1201330730
373 G>V No ClinGen
Ensembl
rs1320531273
CA384391966
374 E>G No ClinGen
TOPMed
CA6511635
rs529162529
376 G>S No ClinGen
ExAC
gnomAD
CA384391929
rs1477547972
377 Q>* No ClinGen
gnomAD
rs966254461
CA235290152
380 V>A No ClinGen
TOPMed
CA6511634
rs751875238
380 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA235290153
rs751875238
380 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6511633
rs376722302
381 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384391844
rs1247117882
383 S>N No ClinGen
gnomAD
rs373870416
CA6511632
385 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1323359345
CA384391829
385 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6511631
rs753027081
386 T>I No ClinGen
ExAC
gnomAD
CA384391810
rs1377421022
387 E>K No ClinGen
gnomAD
CA384391779
rs1384669200
389 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM1181371
CA384391722
rs1163266610
394 N>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
TCGA novel 395 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384391633
rs1270361413
403 I>V No ClinGen
TOPMed
CA235290095
rs950914581
408 S>F No ClinGen
Ensembl
CA384391595
rs1197225194
408 S>P No ClinGen
gnomAD
TCGA novel 408 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384391580
rs1591996478
410 Y>F No ClinGen
Ensembl
rs1451209889
CA384391584
410 Y>H No ClinGen
gnomAD
COSM938962
rs1591996467
CA384391567
412 E>* endometrium [Cosmic] No ClinGen
cosmic curated
Ensembl
CA384391538
rs1286278276
415 E>K No ClinGen
gnomAD
CA384391502
rs1367391769
420 T>A No ClinGen
gnomAD
CA384391496
rs1344121468
421 A>T No ClinGen
gnomAD
rs982860718
CA235288606
422 R>* No ClinGen
TOPMed
rs1331595617
CA384391490
422 R>Q No ClinGen
TOPMed
TCGA novel 425 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384391455
rs1389208558
427 F>L No ClinGen
TOPMed
CA235288597
rs775950642
433 V>E No ClinGen
Ensembl
rs766881094
CA6511606
434 K>E No ClinGen
ExAC
gnomAD
CA235288573
rs916895058
438 Y>C No ClinGen
TOPMed
TCGA novel 440 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 442 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202150785
CA6511604
443 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA6511603
rs373930149
446 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1319716387
CA384391317
446 E>D No ClinGen
TOPMed
rs761417112
CA6511602
447 S>F No ClinGen
ExAC
gnomAD
rs1174704545
CA384391301
449 S>C No ClinGen
TOPMed
gnomAD
rs1174704545
CA384391302
449 S>G No ClinGen
TOPMed
gnomAD
CA384391300
rs1258957727
449 S>N No ClinGen
TOPMed
rs764045904
CA6511600
450 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762845047
CA6511599
451 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs775364971
CA6511598
453 N>H No ClinGen
ExAC
gnomAD
CA6511597
rs769873518
454 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1243770666
CA384391243
457 V>A No ClinGen
TOPMed
gnomAD
rs1467309244
CA384391239
458 E>* No ClinGen
Ensembl
rs145840107
CA6511593
464 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384391153
rs1171782306
466 A>T No ClinGen
TOPMed
CA384389867
rs1160809304
470 K>T No ClinGen
TOPMed
CA6511573
rs768893354
472 I>M No ClinGen
ExAC
gnomAD
CA384389838
rs1566580469
474 V>A No ClinGen
Ensembl
rs780442111
CA6511572
476 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1317851870
CA384389828
476 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6511570
rs192072180
477 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA384389815
rs1316617744
478 I>V No ClinGen
TOPMed
CA384389788
rs1332268684
481 E>D No ClinGen
gnomAD
TCGA novel 483 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1186144855
CA384389762
485 I>T No ClinGen
gnomAD
CA6511568
rs368116807
487 T>I No ClinGen
ESP
ExAC
gnomAD
CA6511567
rs757646271
488 P>L No ClinGen
ExAC
gnomAD
CA6511565
rs777378044
489 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA384389739
rs777378044
489 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs751137599
CA6511566
489 A>T No ClinGen
ExAC
gnomAD
rs758097606 490 G>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs758165290
CA6511564
490 G>R No ClinGen
ExAC
gnomAD
rs752376418
CA6511562
491 E>D No ClinGen
ExAC
gnomAD
rs1179062504
CA384389733
491 E>K No ClinGen
TOPMed
gnomAD
rs1179062504
CA384389732
491 E>Q No ClinGen
TOPMed
gnomAD
CA6511560
rs562234415
493 V>E No ClinGen
1000Genomes
ExAC
gnomAD
rs753513456
CA6511559
494 A>T No ClinGen
ExAC
gnomAD
CA384389704
rs1209069848
496 R>G No ClinGen
TOPMed
gnomAD
rs766356712
CA6511558
496 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs955662896
CA235300992
496 R>S No ClinGen
gnomAD
CA384389657
rs1229410282
501 V>I No ClinGen
TOPMed
TCGA novel 502 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 505 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6511540
rs766051640
506 H>Y No ClinGen
ExAC
gnomAD
rs1207708965
CA384389608
508 L>V No ClinGen
TOPMed
CA384389594
rs1276316538
510 T>A No ClinGen
gnomAD
CA384389590
rs1436850373
510 T>I No ClinGen
TOPMed
CA384389593
rs1276316538
510 T>S No ClinGen
gnomAD
rs763022591
CA6511536
512 P>L No ClinGen
ExAC
gnomAD
rs1357573101
CA384389561
515 C>Y No ClinGen
gnomAD
CA6511535
rs775372659
516 G>V No ClinGen
ExAC
gnomAD
CA6511534
rs770074713
518 S>N No ClinGen
ExAC
gnomAD
rs1369703833
CA384389532
519 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6511533
rs759637252
526 G>E No ClinGen
ExAC
gnomAD
TCGA novel 528 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1162874692
CA384389454
531 Y>C No ClinGen
TOPMed
rs771401382
CA6511531
531 Y>N No ClinGen
ExAC
gnomAD
TCGA novel 533 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1252519892
CA384389435
534 V>I No ClinGen
Ensembl
CA6511530
rs747576839
536 Y>C No ClinGen
ExAC
gnomAD
rs778421394
CA6511529
537 K>E No ClinGen
ExAC
gnomAD
CA235299820
rs923925749
538 P>S No ClinGen
gnomAD
CA384389410
rs923925749
538 P>T No ClinGen
gnomAD
rs1435045170
CA384389402
539 P>L No ClinGen
gnomAD
CA235299813
rs935077571
539 P>S No ClinGen
TOPMed
rs867795575
CA235299807
541 Q>P No ClinGen
Ensembl
CA384389381
rs1482577178
542 H>Q No ClinGen
gnomAD
CA384389375
rs1389295130
543 M>T No ClinGen
gnomAD
rs1255732210
CA384389378
543 M>V No ClinGen
gnomAD
rs1211275520
CA384389349
546 I>L No ClinGen
gnomAD
rs1186781118
CA384386107
550 P>L No ClinGen
TOPMed
CA384386092
rs1242705337
551 Y>C No ClinGen
gnomAD
CA384386065
rs1319793084
552 M>I No ClinGen
gnomAD
CA6511511
rs773655555
556 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA6511510
rs772732463
558 R>Q No ClinGen
ExAC
gnomAD
CA384385987
rs1328840526
558 R>W No ClinGen
gnomAD
CA384385955
rs1389158925
COSM693261
560 Q>E lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA6511506
rs749032652
563 Y>H No ClinGen
ExAC
gnomAD
CA384385850
rs1164819164
564 P>R No ClinGen
gnomAD
rs900263230
CA235294315
566 S>A No ClinGen
Ensembl
CA6511503
rs745683523
569 D>N No ClinGen
ExAC
gnomAD
CA384385756
rs1252945005
570 M>V No ClinGen
gnomAD
CA384385740
rs1208123397
571 H>N No ClinGen
gnomAD
CA384385732
rs1488233579
571 H>R No ClinGen
gnomAD
rs780922654
CA6511502
572 D>G No ClinGen
ExAC
gnomAD
rs562792577
CA235294298
574 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA6511500
rs751429438
574 G>D No ClinGen
ExAC
gnomAD
CA6511501
rs562792577
574 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1229686213
CA384385667
576 T>A No ClinGen
TOPMed
CA384385648
rs1306727761
577 D>E No ClinGen
gnomAD
CA235294292
rs944353644
578 Q>H No ClinGen
TOPMed
gnomAD
CA6511499
rs765416303
579 D>N No ClinGen
ExAC
gnomAD
rs200462514
CA6511498
582 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200462514
CA384385590
582 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6511497
rs151149571
582 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766723246
CA6511496
583 I>F No ClinGen
ExAC
gnomAD
rs1483463400
CA384385568
584 L>V No ClinGen
TOPMed
rs113825871
CA235294277
585 H>R No ClinGen
Ensembl
CA384385539
rs1303256170
586 N>S No ClinGen
gnomAD
rs1427064095
CA384385513
588 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760934544
CA6511495
589 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA384385486
rs1158358187
590 Y>C No ClinGen
TOPMed
gnomAD
CA384385490
rs1253995120
590 Y>D No ClinGen
TOPMed
rs1389041686
CA384385474
591 H>Y No ClinGen
TOPMed
CA6511493
rs201982720
592 I>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA384385447
COSM1361334
rs1175140260
593 V>A large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA6511492
rs762435874
593 V>I No ClinGen
ExAC
gnomAD
CA235294266
rs545886629
595 R>S No ClinGen
Ensembl
rs1415592931
CA384385413
596 E>K No ClinGen
TOPMed
gnomAD
CA384385392
rs1269634027
597 G>A No ClinGen
gnomAD
CA384385390
rs1269634027
597 G>E No ClinGen
gnomAD
rs1011018570
CA235291922
599 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA384383357
rs1011018570
599 W>C No ClinGen
gnomAD
rs900410178
CA235291919
600 D>Y No ClinGen
Ensembl
rs1432044925
CA384383327
601 A>T No ClinGen
gnomAD
CA6511463
COSM360774
rs770550941
601 A>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA235291915
rs181210390
602 V>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs1407112185
CA384383284
603 M>I No ClinGen
gnomAD
rs746795285
CA6511462
603 M>T No ClinGen
ExAC
gnomAD
CA6511460
rs771936315
604 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA6511461
rs777577531
604 D>N No ClinGen
ExAC
TOPMed
COSM1705393
CA6511459
rs748071217
605 W>* skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs143197357
CA6511458
607 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143197357
CA6511457
607 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6511454
rs757448382
609 L>Q No ClinGen
ExAC
gnomAD
rs1051092011
CA235291889
611 G>* No ClinGen
Ensembl
rs566826425
CA6511452
617 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA384383091
rs1311759246
618 G>S No ClinGen
TOPMed
rs1460757498
CA384383082
618 G>V No ClinGen
gnomAD
CA6511451
rs374704804
619 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384383060
rs1456184553
620 A>D No ClinGen
gnomAD
rs764793532
CA6511450
621 R>H No ClinGen
ExAC
gnomAD
rs764793532
CA6511449
621 R>P No ClinGen
ExAC
gnomAD
rs1214648087
CA384383034
622 M>I No ClinGen
gnomAD
rs1342073150
CA384383005
624 Y>F No ClinGen
gnomAD
rs1340465804
CA384382995
625 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 630 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6511426
rs760297393
631 L>F No ClinGen
ExAC
gnomAD
rs1194112931
CA384382636
633 D>G No ClinGen
TOPMed
COSM1606048
rs772908531
CA6511425
634 E>* liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA384382611
rs1366119402
635 C>S No ClinGen
gnomAD
CA384382601
rs1165173028
636 T>A No ClinGen
gnomAD
rs1292918816
CA384382590
637 S>G No ClinGen
TOPMed
gnomAD
rs774235902
CA6511422
640 S>G No ClinGen
ExAC
gnomAD
CA384382537
rs1470971597
641 I>T No ClinGen
gnomAD
CA6511420
rs749204245
COSM236672
644 E>K prostate [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs776622197
CA6511419
646 K>M No ClinGen
ExAC
gnomAD
CA384382490
rs1294665929
648 F>I No ClinGen
gnomAD
CA384382485
rs1351187794
648 F>L No ClinGen
gnomAD
CA384382488
rs1214895990
648 F>S No ClinGen
gnomAD
CA384382489
rs1214895990
648 F>Y No ClinGen
gnomAD
rs771028895
CA6511418
650 A>T No ClinGen
ExAC
gnomAD
rs1178510878
CA384382456
651 A>S No ClinGen
TOPMed
CA6511416
rs778060875
655 G>A No ClinGen
ExAC
gnomAD
CA384382366
rs1405641865
657 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6511414
rs748536241
660 S>T No ClinGen
ExAC
gnomAD
rs779210966
CA6511413
661 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA384382259
rs1159608221
663 H>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6511412
rs190980733
665 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6511398
rs760822721
669 K>N No ClinGen
ExAC
gnomAD
rs773117878
CA6511397
673 H>D No ClinGen
ExAC
gnomAD
rs772313596
CA6511396
682 G>S No ClinGen
ExAC
rs1428370330
CA384378891
683 W>C No ClinGen
gnomAD
CA6511395
rs748340230
684 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6511394
COSM431056
rs779301167
684 R>H lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA384378851
rs1242737023
687 Q>K No ClinGen
gnomAD
CA384378813
rs1266423060
690 T>A No ClinGen
TOPMed
rs944259941
CA235279188
692 I>N No ClinGen
TOPMed
gnomAD
CA6511390
rs756525333
692 I>V No ClinGen
ExAC
gnomAD
CA6511389
rs749976817
693 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6511388
rs377751649
693 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377751649
CA384378780
693 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1230437921
CA384378776
694 L>* No ClinGen
gnomAD
rs1216073085
CA384378751
697 S>R No ClinGen
gnomAD
TCGA novel 697 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202117269
CA6511387
698 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6511386
rs188241882
699 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6511385
rs764057994
701 Q>K No ClinGen
ExAC
gnomAD
CA384378715
rs1446696329
702 K>N No ClinGen
TOPMed
rs1295887385
CA384378695
705 S>F No ClinGen
gnomAD
rs1461095524
CA384378675
709 G>R No ClinGen
gnomAD
CA6511383
rs752634658
712 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765058939
CA6511382
713 M>I No ClinGen
ExAC
gnomAD
CA384378635
rs1384960293
714 Q>H No ClinGen
gnomAD
CA6511381
rs759289660
714 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1400383157
CA384378632
715 Q>* No ClinGen
TOPMed
CA384378630
rs1184597778
715 Q>R No ClinGen
gnomAD
CA384378606
rs1385068742
718 N>K No ClinGen
TOPMed
gnomAD
rs1384475973
CA688639896
719 E>A No ClinGen
TOPMed
rs1481025060
CA384378559
725 G>E No ClinGen
gnomAD
CA235279133
rs868764462
726 E>D No ClinGen
Ensembl
rs1206474793
CA384378538
728 S>* No ClinGen
gnomAD
rs931933135
CA384378529
730 L>M No ClinGen
gnomAD
CA235279115
rs931933135
730 L>V No ClinGen
gnomAD
CA384378513
rs1314018240
732 T>K No ClinGen
gnomAD
rs533410932
CA6511377
733 I>T No ClinGen
1000Genomes
ExAC
CA384378483
rs920153642
736 E>D No ClinGen
TOPMed
gnomAD
rs541565694
CA6511374
737 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1326029150
CA384378471
738 E>G No ClinGen
gnomAD
rs572444310
CA235279100
738 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1456200979
CA384378464
739 T>I No ClinGen
TOPMed
gnomAD
rs1396534312
CA384378459
740 S>A No ClinGen
gnomAD
CA6511372
rs746243559
740 S>F No ClinGen
ExAC
gnomAD
rs1396534312
CA384378460
740 S>P No ClinGen
gnomAD
rs746243559
CA6511373
740 S>Y No ClinGen
ExAC
gnomAD
VAR_062664 244 Q>K a pancreatic ductal adenocarcinoma sample; somatic mutation [UniProt] No UniProt

No associated diseases with Q9UBJ2

4 regional properties for Q9UBJ2

Type Name Position InterPro Accession
domain ABC transporter-like, ATP-binding domain 478 - 704 IPR003439
domain AAA+ ATPase domain 503 - 689 IPR003593
domain ABC transporter type 1, transmembrane domain 91 - 365 IPR011527
conserved_site ABC transporter-like, conserved site 609 - 623 IPR017871

Functions

Description
EC Number
Subcellular Localization
  • Peroxisome membrane ; Multi-pass membrane protein
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.
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.
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 heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity Binding to an identical protein to form a homodimer.

12 GO annotations of biological process

Name Definition
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).
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.
myelin maintenance The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath.
negative regulation of cytokine production involved in inflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.
negative regulation of reactive oxygen species biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species biosynthetic process.
neuron projection maintenance The organization process that preserves a neuron projection in a stable functional or structural state. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
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.
positive regulation of fatty acid beta-oxidation Any process that activates or increases the frequency, rate or extent of fatty acid beta-oxidation.
positive regulation of unsaturated fatty acid biosynthetic process Any process that activates or increases the frequency, rate or extent of unsaturated fatty acid biosynthetic process.
response to bacterium 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 bacterium.
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.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P34230 PXA2 Peroxisomal long-chain fatty acid import protein 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
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
O14678 ABCD4 Lysosomal cobalamin transporter ABCD4 Homo sapiens (Human) PR
P28288 ABCD3 ATP-binding cassette sub-family D member 3 Homo sapiens (Human) PR
P48410 Abcd1 ATP-binding cassette sub-family D member 1 Mus musculus (Mouse) PR
O89016 Abcd4 Lysosomal cobalamin transporter ABCD4 Mus musculus (Mouse) PR
P55096 Abcd3 ATP-binding cassette sub-family D member 3 Mus musculus (Mouse) PR
Q61285 Abcd2 ATP-binding cassette sub-family D member 2 Mus musculus (Mouse) PR
P16970 Abcd3 ATP-binding cassette sub-family D member 3 Rattus norvegicus (Rat) PR
Q9QY44 Abcd2 ATP-binding cassette sub-family D member 2 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MTHMLNAAAD RVKWTRSSAA KRAACLVAAA YALKTLYPII GKRLKQSGHG KKKAAAYPAA
70 80 90 100 110 120
ENTEILHCTE TICEKPSPGV NADFFKQLLE LRKILFPKLV TTETGWLCLH SVALISRTFL
130 140 150 160 170 180
SIYVAGLDGK IVKSIVEKKP RTFIIKLIKW LMIAIPATFV NSAIRYLECK LALAFRTRLV
190 200 210 220 230 240
DHAYETYFTN QTYYKVINMD GRLANPDQSL TEDIMMFSQS VAHLYSNLTK PILDVMLTSY
250 260 270 280 290 300
TLIQTATSRG ASPIGPTLLA GLVVYATAKV LKACSPKFGK LVAEEAHRKG YLRYVHSRII
310 320 330 340 350 360
ANVEEIAFYR GHKVEMKQLQ KSYKALADQM NLILSKRLWY IMIEQFLMKY VWSSSGLIMV
370 380 390 400 410 420
AIPIITATGF ADGEDGQKQV MVSERTEAFT TARNLLASGA DAIERIMSSY KEVTELAGYT
430 440 450 460 470 480
ARVYNMFWVF DEVKRGIYKR TAVIQESESH SKNGAKVELP LSDTLAIKGK VIDVDHGIIC
490 500 510 520 530 540
ENVPIITPAG EVVASRLNFK VEEGMHLLIT GPNGCGKSSL FRILSGLWPV YEGVLYKPPP
550 560 570 580 590 600
QHMFYIPQRP YMSLGSLRDQ VIYPDSVDDM HDKGYTDQDL ERILHNVHLY HIVQREGGWD
610 620 630 640 650 660
AVMDWKDVLS GGEKQRMGMA RMFYHKPKYA LLDECTSAVS IDVEGKIFQA AKGAGISLLS
670 680 690 700 710 720
ITHRPSLWKY HTHLLQFDGE GGWRFEQLDT AIRLTLSEEK QKLESQLAGI PKMQQRLNEL
730
CKILGEDSVL KTIKNEDETS