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

2 structures for P07864

Entry ID Method Resolution Chain Position Source
7EPM X-ray 300 A A/B 2-332 PDB
AF-P07864-F1 Predicted AlphaFoldDB

271 variants for P07864

Variant ID(s) Position Change Description Diseaes Association Provenance
rs769545568
CA5911517
3 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA379512383
rs769545568
3 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1192688509
CA379512441
4 V>L No ClinGen
gnomAD
CA218589909
rs946276190
6 E>* No ClinGen
TOPMed
gnomAD
rs946276190
CA379512520
6 E>K No ClinGen
TOPMed
gnomAD
rs766275159
CA5911520
8 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs568138704
CA5911521
9 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1255592784
CA379512691
9 I>T No ClinGen
Ensembl
CA5911522
rs759039260
10 E>K No ClinGen
ExAC
gnomAD
CA379512746
rs1398758294
12 L>P No ClinGen
gnomAD
CA5911523
rs767111466
12 L>V No ClinGen
ExAC
gnomAD
RCV000962117
CA5911524
rs73436621
13 I>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs778272077
CA5911526
13 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA5911525
rs73436621
13 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA379512787
rs1229854441
14 E>A No ClinGen
gnomAD
rs754459497
CA5911527
15 D>N No ClinGen
ExAC
gnomAD
CA218589946
rs372373685
16 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs779414555
CA5911529
17 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1282303005
CA379512898
18 N>D No ClinGen
gnomAD
CA379512919
rs1487262644
18 N>K No ClinGen
gnomAD
rs745952910
CA5911530
19 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs369553713
CA5911531
20 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA218589977
rs931208517
20 Q>K No ClinGen
TOPMed
gnomAD
rs1485037625
CA379512946
20 Q>L No ClinGen
TOPMed
CA5911533
rs142289224
21 C>G No ClinGen
ESP
ExAC
gnomAD
CA379512969
rs142289224
21 C>R No ClinGen
ESP
ExAC
gnomAD
rs1376747348
CA379512997
22 K>E No ClinGen
gnomAD
rs1454281645
CA379513062
25 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs769632709
CA218590042
28 T>I No ClinGen
ExAC
gnomAD
rs769632709
CA5911534
28 T>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762680632
CA5911536
30 A>T No ClinGen
ExAC
gnomAD
CA5911538
rs774305161
31 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA379513162
rs1357332075
33 M>T No ClinGen
gnomAD
rs1321749595
CA379513178
34 A>T No ClinGen
gnomAD
CA379513181
rs1370544092
34 A>V No ClinGen
gnomAD
rs79201187
CA5911540
35 C>F No ClinGen
ExAC
gnomAD
rs752458236
CA5911541
36 A>T No ClinGen
ExAC
gnomAD
rs1351654744
CA379513204
36 A>V No ClinGen
gnomAD
CA5911542
rs760397029
38 S>C No ClinGen
ExAC
gnomAD
rs200996269
CA218590089
39 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
rs1232472160
CA379513237
39 I>T No ClinGen
TOPMed
rs1486702368 42 K>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA379513271
rs1261264834
42 K>R No ClinGen
gnomAD
CA379514152
rs1479985393
43 D>Y No ClinGen
gnomAD
rs563217843
CA5911559
44 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 46 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763857510
CA5911560
47 E>D No ClinGen
ExAC
gnomAD
CA379514299
rs1446894864
49 A>D No ClinGen
TOPMed
rs776379979
CA5911561
53 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1421396505
CA379514430
53 V>I No ClinGen
gnomAD
CA379514586
rs750947492
56 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA5911565
rs758939071
57 K>E No ClinGen
ExAC
gnomAD
rs370079739
CA5911566
CA379514928
62 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA379514939
rs1298806855
63 M>T No ClinGen
gnomAD
rs551119181
CA218591527
64 D>N No ClinGen
gnomAD
TCGA novel 66 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1292620839
CA379515087
67 H>R No ClinGen
gnomAD
TCGA novel 69 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379515228
rs1335690336
70 L>F No ClinGen
TOPMed
rs1404637151
CA379515253
71 F>C No ClinGen
TOPMed
rs1467772454
CA379515248
71 F>V No ClinGen
TOPMed
rs1170972875
CA379515334
73 S>G No ClinGen
TOPMed
CA379515399
rs1422138875
74 T>N No ClinGen
TOPMed
rs373834035
CA218591558
75 S>* No ClinGen
ESP
TOPMed
gnomAD
CA5911571
rs781433212
75 S>T No ClinGen
ExAC
gnomAD
rs748352173
CA5911572
77 I>F No ClinGen
ExAC
gnomAD
rs1482018895
CA379515539
79 S>T No ClinGen
gnomAD
rs930685372
CA218565336
82 D>V No ClinGen
TOPMed
gnomAD
TCGA novel 83 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379490605
rs1452591375
83 Y>C No ClinGen
gnomAD
CA5911590
rs755103153
83 Y>N No ClinGen
ExAC
gnomAD
CA5911591
rs374002407
84 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752931129
CA5911592
88 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA5911593
rs756367246
89 S>F No ClinGen
ExAC
gnomAD
rs750252706
CA5911595
90 R>G No ClinGen
ExAC
gnomAD
rs758222573
CA5911596
91 I>M No ClinGen
ExAC
gnomAD
rs1365070395
CA379490846
92 V>I No ClinGen
gnomAD
CA379490867
rs1233188387
93 I>T No ClinGen
gnomAD
TCGA novel 94 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1303498630
CA379490909
96 A>V No ClinGen
gnomAD
CA218565419
rs11558333
97 G>S No ClinGen
TOPMed
gnomAD
rs139647819
CA5911598
100 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 105 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379491108
rs1590228720
105 T>P No ClinGen
Ensembl
CA5911599
rs768339569
106 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA218565437
rs768339569
106 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs200332423
CA5911600
106 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200332423
CA379491141
106 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769511132
CA5911602
110 V>L No ClinGen
ExAC
gnomAD
CA379491273
CA5911604
rs144306480
111 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5911605
rs771264967
112 R>C Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs980844599
CA218565515
112 R>H No ClinGen
TOPMed
gnomAD
rs980844599
CA379491302
112 R>P No ClinGen
TOPMed
gnomAD
CA5911606
rs774900783
114 V>M No ClinGen
ExAC
gnomAD
CA5911608
rs146472745
116 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372539242
CA5911607
116 I>V No ClinGen
ESP
ExAC
gnomAD
rs1590228771
CA379491465
117 M>I No ClinGen
Ensembl
rs1001797839
CA218565525
117 M>T No ClinGen
TOPMed
CA379491528
rs1175158385
120 I>V No ClinGen
TOPMed
rs760620346
CA5911610
124 I>T No ClinGen
ExAC
gnomAD
rs1476716012
CA379491625
124 I>V No ClinGen
TOPMed
rs753971983
CA379491699
126 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA5911612
rs753971983
126 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1565051387
CA379491673
126 H>Y No ClinGen
Ensembl
TCGA novel 128 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA218565612
rs1033574369
133 I>S No ClinGen
Ensembl
CA218565630
rs897430363
134 L>R No ClinGen
TOPMed
rs758316404
CA5911614
135 V>I No ClinGen
ExAC
gnomAD
rs141033508
CA218565635
136 V>I No ClinGen
ESP
rs779982098
CA5911615
138 N>D No ClinGen
ExAC
gnomAD
CA5911616
rs150157978
139 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1438515905
CA379493471
144 T>K No ClinGen
gnomAD
CA379493482
rs1188240847
145 Y>H No ClinGen
gnomAD
rs1206488111
CA379493487
145 Y>S No ClinGen
TOPMed
gnomAD
CA5911633
rs751411987
146 I>V No ClinGen
ExAC
gnomAD
rs754780462
CA5911634
147 V>D No ClinGen
ExAC
gnomAD
rs752556850
CA5911636
149 K>N No ClinGen
ExAC
gnomAD
CA379493521
rs1474202485
150 I>V No ClinGen
gnomAD
CA5911637
rs755708433
155 V>I No ClinGen
ExAC
gnomAD
CA5911638
rs777146300
157 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5911639
rs184986131
157 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA379493569
rs1374190317
158 V>I No ClinGen
gnomAD
rs778491375
CA5911641
159 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs746259283
CA5911642
160 G>E No ClinGen
ExAC
gnomAD
rs772289571
CA5911643
162 G>S No ClinGen
ExAC
gnomAD
CA5911644
rs776111755
162 G>V No ClinGen
ExAC
gnomAD
CA5911645
rs747457421
163 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA5911646
rs768845228
166 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs776577627
CA5911647
166 D>V No ClinGen
ExAC
gnomAD
rs1211553780
CA379494270
167 S>C No ClinGen
gnomAD
rs148817816
CA5911648
169 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1480534867
CA379494352
169 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5911649
rs201168555
171 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5911650
rs773537130
171 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759454589
CA5911651
174 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA379494577
rs1476077824
175 G>E No ClinGen
gnomAD
CA379494629
rs1171190604
176 E>G No ClinGen
gnomAD
rs767205516
CA5911652
177 K>E No ClinGen
ExAC
gnomAD
rs752749723
CA5911653
178 L>* No ClinGen
ExAC
gnomAD
CA5911654
rs756011979
178 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA379494835
rs1590231127
181 H>P No ClinGen
Ensembl
rs1380888967
CA379494822
181 H>Y No ClinGen
gnomAD
rs1208531070
CA379494912
182 P>L No ClinGen
TOPMed
CA379494891
rs1230975220
182 P>S No ClinGen
gnomAD
rs764039083
CA5911656
183 T>P No ClinGen
ExAC
CA218569863
rs1007827759
185 C>R No ClinGen
TOPMed
gnomAD
CA5911657
rs753372115
186 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA218569872
rs753372115
186 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1257718550
CA379495042
186 H>Y No ClinGen
gnomAD
CA5911658
rs756713645
188 W>* No ClinGen
ExAC
gnomAD
rs1204348577
CA379495096
188 W>* No ClinGen
gnomAD
CA379495250
rs1191404824
193 H>R No ClinGen
TOPMed
gnomAD
rs778572910
CA5911659
193 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1454352044
CA379495274
194 G>D No ClinGen
gnomAD
TCGA novel 198 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5911680
rs148004611
201 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751890722
CA5911681
202 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA379495683
rs1352059319
202 S>N No ClinGen
gnomAD
rs973288590
CA218572677
203 G>E No ClinGen
TOPMed
rs1292508124
CA379495702
203 G>R No ClinGen
gnomAD
rs145871249
CA5911684
206 V>I No ClinGen
ESP
ExAC
rs765321986
CA5911685
207 A>S No ClinGen
ExAC
gnomAD
TCGA novel 210 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5911686
rs778007351
212 K>E No ClinGen
ExAC
gnomAD
TCGA novel 215 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1457467265
CA379496037
217 K>I No ClinGen
TOPMed
TCGA novel 219 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5911689
rs771085598
220 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA5911691
rs181881801
220 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5911690
rs181881801
220 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 222 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA218572784
rs867366990
222 S>L No ClinGen
Ensembl
CA5911695
rs202072443
223 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs776605528
CA5911693
223 D>N No ClinGen
ExAC
gnomAD
rs761731055
CA5911694
223 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1427613833
CA379496266
226 H>N No ClinGen
gnomAD
rs749946913
CA5911696
226 H>R No ClinGen
ExAC
gnomAD
CA5911698
rs765977484
227 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5911699
rs765977484
227 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs762476748
CA5911697
227 W>G No ClinGen
ExAC
gnomAD
rs1412928214
CA379496360
228 K>E No ClinGen
gnomAD
CA379496385
rs1312009699
229 N>H No ClinGen
gnomAD
TCGA novel 229 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379496390
rs1355900430
229 N>S No ClinGen
gnomAD
rs888732937
CA218572819
231 H>Q No ClinGen
Ensembl
rs755357039
CA5911700
231 H>R No ClinGen
ExAC
gnomAD
CA5911701
rs781688533
232 K>E No ClinGen
ExAC
gnomAD
rs1477929477
CA379496502
233 Q>E No ClinGen
gnomAD
CA218572820
rs375291929
234 V>G No ClinGen
ESP
TOPMed
TCGA novel 236 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379496617
rs1173633069
236 Q>R No ClinGen
gnomAD
CA5911702
rs753045145
237 S>N No ClinGen
ExAC
gnomAD
rs930572377
CA379499076
238 A>D No ClinGen
TOPMed
rs1330263492
CA379499068
238 A>T No ClinGen
gnomAD
rs930572377
CA218576957
238 A>V No ClinGen
TOPMed
CA5911717
rs773944156
239 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1240785602
CA379499156
242 I>M No ClinGen
gnomAD
TCGA novel 243 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1189504767
CA379499270
247 Y>* No ClinGen
gnomAD
rs759268494
CA5911718
247 Y>C No ClinGen
ExAC
gnomAD
rs1590236802
CA379499280
248 T>S No ClinGen
Ensembl
rs753137116
CA5911720
249 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA379499347
rs1172863734
250 W>C No ClinGen
gnomAD
CA218576964
rs985674643
252 I>V No ClinGen
Ensembl
rs756510241
CA5911721
253 G>E No ClinGen
ExAC
gnomAD
CA379499511
rs1416158656
255 S>F No ClinGen
TOPMed
gnomAD
TCGA novel 256 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1466639452
CA379499516
256 V>L No ClinGen
TOPMed
rs386751173
CA218576978
258 D>G No ClinGen
Ensembl
CA379499580
rs2658565
259 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2658565
CA379499579
259 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201957484
CA5911724
261 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1344431284
CA379499619
261 G>R No ClinGen
TOPMed
gnomAD
rs779043876
CA5911725
263 I>V No ClinGen
ExAC
gnomAD
CA379499769
rs1413890510
266 N>D No ClinGen
TOPMed
rs745865996
CA5911726
266 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA5911727
rs758630371
267 L>R No ClinGen
ExAC
gnomAD
rs1004683428
CA218577016
269 R>G No ClinGen
TOPMed
CA379500058
rs1368902927
272 P>L No ClinGen
gnomAD
rs144032917
CA218577030
273 V>A No ClinGen
ESP
TOPMed
CA5911729
rs573083696
274 S>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1181884811
CA379500166
275 T>I No ClinGen
TOPMed
CA5911731
rs773081314
276 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1316715794
CA379500206
276 M>T No ClinGen
gnomAD
rs1274724226
CA379500178
276 M>V No ClinGen
TOPMed
gnomAD
CA379500248
rs1270255339
278 K>Q No ClinGen
gnomAD
rs375667359
CA218579988
279 G>E No ClinGen
TOPMed
rs375667359
CA379501313
279 G>V No ClinGen
TOPMed
CA379501335
rs1461129170
281 Y>C No ClinGen
TOPMed
CA5911747
rs187999716
281 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs117703340
CA5911748
284 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA379501379
rs117703340
284 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2230150
CA5911750
285 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5911751
rs770926658
285 E>D No ClinGen
ExAC
gnomAD
CA5911749
rs2230150
VAR_034068
285 E>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA379501417
rs1163502049
286 E>D No ClinGen
gnomAD
CA5911752
rs778679570
286 E>Q No ClinGen
ExAC
gnomAD
rs745415561
CA5911754
290 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs745415561
CA379501479
290 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1327371373
CA379501486
291 I>V No ClinGen
gnomAD
rs1411046576
CA379501502
292 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1310206871
CA379501549
293 C>S No ClinGen
gnomAD
CA379501616
rs1354011066
295 L>M No ClinGen
gnomAD
rs760395380
CA5911757
297 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200582503
CA5911756
297 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 299 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379502074
rs1212899360
302 D>E No ClinGen
gnomAD
rs567978312
CA5911758
305 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs777065377
CA5911759
306 I>S No ClinGen
ExAC
gnomAD
rs1207265723
CA379502343
310 S>P No ClinGen
gnomAD
rs1255074794
CA379502361
310 S>Y No ClinGen
gnomAD
CA5911760
rs762032479
311 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1356622317
CA379502443
313 E>Q No ClinGen
gnomAD
CA5911761
rs534491896
314 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5911762
rs534491896
314 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763069709
CA5911763
315 L>F No ClinGen
ExAC
gnomAD
CA379502496
rs1474255625
315 L>P No ClinGen
gnomAD
rs766443248
CA218580096
CA5911764
317 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1390293150
CA379502539
317 K>R No ClinGen
gnomAD
rs965914521
CA218580102
320 A>T No ClinGen
Ensembl
CA379502645
rs1171061282
320 A>V No ClinGen
gnomAD
rs1373984613
CA379502754
322 T>I No ClinGen
gnomAD
rs139520541
CA5911765
324 W>R No ClinGen
ESP
ExAC
rs1387931247
CA379502823
326 I>V No ClinGen
TOPMed
rs1395813597
CA379502850
327 Q>* No ClinGen
gnomAD
rs755243567
CA5911766
327 Q>P No ClinGen
ExAC
gnomAD
rs755243567
CA379502855
327 Q>R No ClinGen
ExAC
gnomAD
rs781224542
CA5911767
329 D>V No ClinGen
ExAC
gnomAD
rs146040369
CA5911768
330 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1028773342
CA218580123
331 I>L No ClinGen
Ensembl
rs1296931433
CA379502943
331 I>T No ClinGen
gnomAD

No associated diseases with P07864

3 regional properties for P07864

Type Name Position InterPro Accession
domain Lactate/malate dehydrogenase, N-terminal 21 - 160 IPR001236
active_site L-lactate dehydrogenase, active site 190 - 196 IPR018177
domain Lactate/malate dehydrogenase, C-terminal 164 - 327 IPR022383

Functions

Description
EC Number 1.1.1.27 With NAD(+) or NADP(+) as acceptor
Subcellular Localization
  • Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 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 exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
motile cilium A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
oxidoreductase complex Any protein complex that possesses oxidoreductase activity.

1 GO annotations of molecular function

Name Definition
L-lactate dehydrogenase activity Catalysis of the reaction: (S)-lactate + NAD+ = pyruvate + NADH + H+.

6 GO annotations of biological process

Name Definition
ATP biosynthetic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
lactate biosynthetic process from pyruvate The chemical reactions and pathways resulting in the formation of lactate from other compounds, including pyruvate.
lactate metabolic process The chemical reactions and pathways involving lactate, the anion of lactic acid.
lactate oxidation The chemical reactions and pathways resulting in the conversion of lactate to other compounds, such as pyruvate, with concomitant loss of electrons.
pyruvate metabolic process The chemical reactions and pathways involving pyruvate, 2-oxopropanoate.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P19858 LDHA L-lactate dehydrogenase A chain Bos taurus (Bovine) PR
Q5E9B1 LDHB L-lactate dehydrogenase B chain Bos taurus (Bovine) PR
Q5R1W9 LDHA L-lactate dehydrogenase A chain Pan troglodytes (Chimpanzee) PR
P07195 LDHB L-lactate dehydrogenase B chain Homo sapiens (Human) PR
P00338 LDHA L-lactate dehydrogenase A chain Homo sapiens (Human) PR
P06151 Ldha L-lactate dehydrogenase A chain Mus musculus (Mouse) PR
P16125 Ldhb L-lactate dehydrogenase B chain Mus musculus (Mouse) PR
P00339 LDHA L-lactate dehydrogenase A chain Sus scrofa (Pig) PR
P04642 Ldha L-lactate dehydrogenase A chain Rattus norvegicus (Rat) PR
Q66KB7 uevld Ubiquitin-conjugating enzyme E2 variant 3 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6DBY5 uevld Ubiquitin-conjugating enzyme E2 variant 3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSTVKEQLIE KLIEDDENSQ CKITIVGTGA VGMACAISIL LKDLADELAL VDVALDKLKG
70 80 90 100 110 120
EMMDLQHGSL FFSTSKITSG KDYSVSANSR IVIVTAGARQ QEGETRLALV QRNVAIMKSI
130 140 150 160 170 180
IPAIVHYSPD CKILVVSNPV DILTYIVWKI SGLPVTRVIG SGCNLDSARF RYLIGEKLGV
190 200 210 220 230 240
HPTSCHGWII GEHGDSSVPL WSGVNVAGVA LKTLDPKLGT DSDKEHWKNI HKQVIQSAYE
250 260 270 280 290 300
IIKLKGYTSW AIGLSVMDLV GSILKNLRRV HPVSTMVKGL YGIKEELFLS IPCVLGRNGV
310 320 330
SDVVKINLNS EEEALFKKSA ETLWNIQKDL IF