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 Q8WWC4

Entry ID Method Resolution Chain Position Source
AF-Q8WWC4-F1 Predicted AlphaFoldDB

234 variants for Q8WWC4

Variant ID(s) Position Change Description Diseaes Association Provenance
rs533750912
CA2046739
5 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs748413044
CA2046737
5 A>S No ClinGen
ExAC
gnomAD
CA2046738
rs533750912
5 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs747358230
CA2046740
6 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA350221925
rs747358230
6 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2046742
rs771610145
7 L>V No ClinGen
ExAC
gnomAD
rs777192025
CA2046743
7 L>W No ClinGen
ExAC
gnomAD
rs762429046
CA2046744
8 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs773670429
CA2046746
9 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs138114112
CA2046745
9 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350221965
rs138114112
9 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767106251
CA63771135
10 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs767106251
CA2046748
10 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA350221988
rs1395908084
10 Q>R No ClinGen
gnomAD
CA350222012
rs1429406346
11 F>C No ClinGen
gnomAD
rs201435155
CA63771174
11 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2046750
rs755871913
14 S>C No ClinGen
ExAC
gnomAD
CA2046751
rs766367458
15 R>G No ClinGen
ExAC
gnomAD
CA2046753
rs753797211
15 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs753797211
CA350222081
15 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs753797211
CA2046752
15 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1452572669
CA350222654
16 S>L No ClinGen
TOPMed
CA350222653
rs1452572669
16 S>W No ClinGen
TOPMed
CA350222663
rs1352645245
18 P>S No ClinGen
gnomAD
rs201104497
CA2046757
19 C>W No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 20 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776804166
CA2046761
23 R>Q No ClinGen
ExAC
gnomAD
rs1252442156
CA350222704
25 R>Q No ClinGen
gnomAD
rs1181072991
CA350222711
26 T>S No ClinGen
gnomAD
rs781313834
CA63771289
27 P>T No ClinGen
Ensembl
rs770161992
CA2046764
28 A>T No ClinGen
ExAC
gnomAD
CA63771314
rs943915480
28 A>V No ClinGen
Ensembl
rs773932475
CA2046765
29 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA350222729
rs1465989787
30 A>D No ClinGen
gnomAD
CA63771327
rs1040987516
30 A>T No ClinGen
TOPMed
gnomAD
CA63771329
rs897119910
31 E>K No ClinGen
Ensembl
rs1162316580
CA350222742
32 V>A No ClinGen
TOPMed
CA63771338
rs994200441
32 V>M No ClinGen
gnomAD
CA63771366
rs1027053468
35 P>L No ClinGen
gnomAD
rs781492723
CA2046766
35 P>L No ClinGen
ExAC
rs1415868522
CA350222758
35 P>S No ClinGen
TOPMed
CA350222764
rs1346388119
36 S>L No ClinGen
gnomAD
rs1574817682
CA350222771
37 A>G No ClinGen
Ensembl
TCGA novel 38 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1574817689
CA350222773
38 T>P No ClinGen
Ensembl
rs772846285
CA63771394
40 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs772846285
CA2046769
40 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA350222797
rs1276652482
41 Y>* No ClinGen
gnomAD
rs760516868
CA2046770
42 F>L No ClinGen
ExAC
gnomAD
rs367784377
CA2046771
44 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA63771459
rs143660857
45 C>Y No ClinGen
ESP
rs753507356
CA2046772
46 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs753507356
CA63771474
46 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA350222830
rs1266078180
47 L>V No ClinGen
gnomAD
CA2046775
rs752867183
48 G>A No ClinGen
ExAC
gnomAD
rs998556244
CA63771512
50 G>R No ClinGen
TOPMed
gnomAD
rs758551827
CA350222856
51 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1031278860
CA63771516
51 A>T No ClinGen
Ensembl
rs758551827
CA2046776
51 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA350222879
rs1366525258
55 P>A No ClinGen
gnomAD
CA350222880
rs1366525258
55 P>S No ClinGen
gnomAD
rs751845535
CA350222885
56 R>* No ClinGen
ExAC
gnomAD
CA350222897
rs1291964876
58 A>T No ClinGen
gnomAD
CA2046779
rs757489865
59 R>G No ClinGen
ExAC
gnomAD
rs1382827507
CA350222904
59 R>K No ClinGen
gnomAD
CA350222914
rs1362939086
60 A>V No ClinGen
gnomAD
rs1315484960
CA350222915
61 L>V No ClinGen
TOPMed
gnomAD
CA2046782
rs770380935
62 A>T No ClinGen
ExAC
rs114873804
CA2046783
62 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1244890408
CA350222930
63 A>V No ClinGen
gnomAD
rs747722514
CA2046784
64 S>L No ClinGen
ExAC
TOPMed
rs1264459116
CA350222946
66 L>P No ClinGen
gnomAD
CA2046787
rs760322371
67 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs200309615
CA63771610
68 A>T No ClinGen
Ensembl
CA2046788
rs376647442
69 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376647442
CA350222961
69 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2046789
rs776541062
70 G>D No ClinGen
ExAC
gnomAD
CA2046792
rs752672763
72 R>Q No ClinGen
ExAC
gnomAD
CA2046791
rs114393899
72 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2046795
rs764274752
74 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA350223001
rs1559311044
76 L>F No ClinGen
Ensembl
CA350223015
rs1386469445
78 S>G No ClinGen
gnomAD
TCGA novel 78 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350223018
rs1434308010
78 S>T No ClinGen
gnomAD
CA2046796
rs751651362
79 P>S No ClinGen
ExAC
gnomAD
CA350223058
rs1488835295
82 P>L No ClinGen
TOPMed
CA350223074
rs1311635441
84 A>P No ClinGen
gnomAD
rs1229792622
CA350223093
85 F>L No ClinGen
gnomAD
rs560623066
CA2046798
88 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1464019879
CA350223139
90 A>P No ClinGen
gnomAD
rs527943270
CA2046799
92 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA350223172
rs1559311088
93 Q>* No ClinGen
Ensembl
rs1346099026
CA350223215
96 Y>C No ClinGen
TOPMed
gnomAD
rs1346099026
CA350223213
96 Y>S No ClinGen
TOPMed
gnomAD
CA350223231
rs1180476189
97 S>R No ClinGen
gnomAD
rs1282219268
CA350223243
98 T>M No ClinGen
TOPMed
rs780668557
CA2046802
99 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA350223306
rs1392302412
102 P>H No ClinGen
TOPMed
rs140070270
CA2046803
103 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2046804
rs769081538
104 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs769081538
CA63771782
104 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA63771811
rs911024862
106 Q>R No ClinGen
gnomAD
CA2046806
rs746471724
107 K>T No ClinGen
ExAC
gnomAD
CA350223443
rs1345643977
109 K>E No ClinGen
TOPMed
CA2046807
rs564384653
109 K>N No ClinGen
1000Genomes
ExAC
gnomAD
rs776147130
CA2046808
110 M>I No ClinGen
ExAC
gnomAD
rs759438298
CA2046809
111 I>M No ClinGen
ExAC
gnomAD
rs116182492
CA2046810
114 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1041347640
CA63771864
115 F>C No ClinGen
gnomAD
CA350223540
rs1041347640
115 F>S No ClinGen
gnomAD
rs763017385
CA2046812
117 N>S No ClinGen
ExAC
gnomAD
rs1314466894
CA350223588
118 P>R No ClinGen
TOPMed
gnomAD
CA63771873
rs778668741
119 I>V No ClinGen
Ensembl
TCGA novel 121 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761766581
CA2046816
124 T>I No ClinGen
ExAC
gnomAD
CA350223692
rs767845669
125 R>* No ClinGen
ExAC
gnomAD
rs750596379
CA2046819
127 K>* No ClinGen
ExAC
gnomAD
rs750596379
CA2046818
127 K>E No ClinGen
ExAC
gnomAD
CA350223725
rs1427518137
127 K>N No ClinGen
TOPMed
rs202128623
CA2046821
129 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1412715236
CA350223775
131 I>F No ClinGen
gnomAD
TCGA novel 131 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2046822
rs755495820
133 A>V No ClinGen
ExAC
gnomAD
CA2046823
rs779364305
134 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs746598091
CA2046824
135 F>L No ClinGen
ExAC
gnomAD
CA63771958
rs906679743
136 D>E No ClinGen
TOPMed
CA2046826
rs368017643
136 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2046825
rs756709016
136 D>Y No ClinGen
ExAC
gnomAD
rs745516138
CA2046828
137 K>E No ClinGen
ExAC
gnomAD
CA350223876
rs1218011498
137 K>N No ClinGen
gnomAD
rs1278497547
CA350223892
138 E>G No ClinGen
gnomAD
rs1278497547
CA350223888
138 E>V No ClinGen
gnomAD
rs1272832258
CA350223948
142 T>A No ClinGen
gnomAD
rs1225060660
CA350223952
142 T>I No ClinGen
gnomAD
CA2046830
rs769451930
143 E>Q No ClinGen
ExAC
gnomAD
rs775450822
COSM345267
CA2046831
146 E>* lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 146 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139414213
CA2046832
148 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA63772001
rs1031665747
150 Q>* No ClinGen
Ensembl
CA63772004
rs956983685
150 Q>R No ClinGen
Ensembl
rs1450002002
CA350224141
151 A>S No ClinGen
gnomAD
rs1450002002
CA350224137
151 A>T No ClinGen
gnomAD
rs765792359
CA2046845
151 A>V No ClinGen
ExAC
rs753158029
CA2046846
153 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA350224179
rs1347855187
154 H>Q No ClinGen
TOPMed
CA350224174
rs1466209644
154 H>R No ClinGen
gnomAD
rs868547638
CA63774042
154 H>Y No ClinGen
Ensembl
rs1472984935
CA350224227
159 L>P No ClinGen
gnomAD
CA350224264
rs1574820322
163 K>Q No ClinGen
Ensembl
CA350224281
rs1363495298
164 F>C No ClinGen
TOPMed
CA350224314
rs1411160333
168 E>K No ClinGen
gnomAD
CA350224332
rs1404312428
169 E>G No ClinGen
gnomAD
rs1269905243
CA350224340
170 L>F No ClinGen
TOPMed
rs1320641047
CA350224344
170 L>P No ClinGen
gnomAD
CA2046849
rs745337503
173 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1319099614
CA350224383
174 E>G No ClinGen
gnomAD
rs1279831465
CA350224450
177 H>R No ClinGen
gnomAD
rs1302471441
CA350224487
181 E>K No ClinGen
TOPMed
CA350224514
rs753070404
183 V>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 183 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350224512
rs753070404
183 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA2046863
rs753070404
183 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA2046864
rs150048783
184 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2046865
rs764643111
187 P>S No ClinGen
ExAC
TOPMed
rs1344688018
CA350224562
188 D>V No ClinGen
TOPMed
rs1451819016
CA350224557
188 D>Y No ClinGen
TOPMed
CA63774420
rs986786472
190 H>L No ClinGen
TOPMed
gnomAD
CA2046867
rs755678591
190 H>Q No ClinGen
ExAC
gnomAD
rs1345630694
CA350224618
193 A>T No ClinGen
gnomAD
COSM1014632
rs1403015180
CA350224625
193 A>V Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA350224631
rs1393788442
194 L>F No ClinGen
TOPMed
rs377269745
CA2046869
195 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2046870
rs368436352
197 N>K No ClinGen
ESP
ExAC
gnomAD
rs747927542
CA2046872
198 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA2046871
rs778604035
198 I>V No ClinGen
ExAC
gnomAD
CA2046873
rs771950552
201 I>T No ClinGen
ExAC
gnomAD
rs200945856
CA2046874
204 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1377642335
CA350224760
206 T>I No ClinGen
gnomAD
TCGA novel 208 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765727760
CA2046876
209 I>T No ClinGen
ExAC
gnomAD
rs747152048
CA2046875
209 I>V No ClinGen
ExAC
gnomAD
rs940123362
CA63774503
210 S>C No ClinGen
TOPMed
gnomAD
CA350224804
rs1272382659
211 I>V No ClinGen
gnomAD
rs759785130
CA2046878
212 Y>F No ClinGen
ExAC
gnomAD
rs1004948494
CA63774519
212 Y>H No ClinGen
TOPMed
gnomAD
rs769958661
CA2046879
213 Y>C No ClinGen
ExAC
gnomAD
CA2046881
rs375544417
215 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350224853
rs1331700006
215 E>K No ClinGen
TOPMed
gnomAD
CA63774544
rs1037804279
216 K>T No ClinGen
Ensembl
TCGA novel 217 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2046899
rs763283220
218 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs769075871
CA2046900
218 R>M No ClinGen
ExAC
gnomAD
rs1425796260
TCGA novel
CA350226106
218 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
CA350226127
rs1180631666
219 K>N No ClinGen
TOPMed
rs1291877038
CA350226160
221 V>I No ClinGen
gnomAD
rs977692502
CA63775861
222 N>Y No ClinGen
Ensembl
rs774786100
CA2046902
225 M>R No ClinGen
ExAC
gnomAD
CA2046903
rs372424449
226 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776329944
CA2046905
231 T>I No ClinGen
ExAC
gnomAD
rs752410100
CA350226345
234 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA2046908
rs752410100
234 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA2046909
rs147805097
237 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763981865
CA2046911
240 L>S No ClinGen
ExAC
gnomAD
rs1319390429
CA350226402
240 L>V No ClinGen
TOPMed
rs1250435567
CA350226432
243 A>G No ClinGen
gnomAD
rs1574821757
CA350226442
244 S>I No ClinGen
Ensembl
CA2046913
rs757238753
247 Q>* No ClinGen
ExAC
CA350226478
rs1186305128
247 Q>L No ClinGen
gnomAD
rs912238658
CA63775926
248 V>I No ClinGen
TOPMed
CA2046915
rs376452416
259 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs971355743
CA63775944
262 S>T No ClinGen
Ensembl
rs1457817081
CA350226619
263 A>T No ClinGen
gnomAD
CA2046916
rs756203672
264 S>N No ClinGen
ExAC
gnomAD
CA63775989
rs146994812
266 E>G No ClinGen
ESP
CA350226672
rs1291566688
268 Q>R No ClinGen
TOPMed
rs749274744
CA2046936
269 R>S No ClinGen
ExAC
gnomAD
rs755276377
CA2046937
270 E>D No ClinGen
ExAC
gnomAD
rs1285941828
CA350226704
273 Q>* No ClinGen
gnomAD
CA2046939
rs748588415
273 Q>R No ClinGen
ExAC
gnomAD
rs373907210
CA2046941
274 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2046940
rs373907210
274 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350226743
rs1279973138
279 W>* No ClinGen
gnomAD
rs775115912
CA2046944
279 W>G No ClinGen
ExAC
gnomAD
CA350226762
rs1385058236
281 I>M No ClinGen
TOPMed
CA350226760
rs1467567350
281 I>T No ClinGen
Ensembl
CA350226766
rs1469660172
282 A>G No ClinGen
gnomAD
CA2046947
rs140885188
282 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs115358893
CA2046949
283 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs115358893
CA2046950
283 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2046948
rs377424592
283 R>W No ClinGen
ExAC
TOPMed
gnomAD
COSM1014635
CA63777376
rs1048972908
285 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA350226789
rs1490252519
286 H>L No ClinGen
gnomAD
VAR_034911
CA2046953
rs2118548
290 L>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA350226831
rs1184049618
292 E>L No ClinGen
TOPMed

No associated diseases with Q8WWC4

No regional properties for Q8WWC4

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8WWC4

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.

1 GO annotations of molecular function

Name Definition
ribosome binding Binding to a ribosome.

5 GO annotations of biological process

Name Definition
calcium import into the mitochondrion A process in which a calcium ion (Ca2+) is transported from the cytosol into the mitochondrial matrix.
inner mitochondrial membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the mitochondrial inner membrane.
mitochondrial calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings.
protein insertion into mitochondrial inner membrane from matrix The process in which a protein is incorporated into the mitochondrial inner membrane from the matrix side. This includes membrane insertion of newly synthesized mitochondrially-encoded proteins, and insertion of nuclear-encoded proteins after their import into the mitochondrial matrix.
protein insertion into mitochondrial membrane The process that results in the incorporation of a protein into a mitochondrial membrane.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MALAARLLPQ FLHSRSLPCG AVRLRTPAVA EVRLPSATLC YFCRCRLGLG AALFPRSARA
70 80 90 100 110 120
LAASALPAQG SRWPVLSSPG LPAAFASFPA CPQRSYSTEE KPQQHQKTKM IVLGFSNPIN
130 140 150 160 170 180
WVRTRIKAFL IWAYFDKEFS ITEFSEGAKQ AFAHVSKLLS QCKFDLLEEL VAKEVLHALK
190 200 210 220 230 240
EKVTSLPDNH KNALAANIDE IVFTSTGDIS IYYDEKGRKF VNILMCFWYL TSANIPSETL
250 260 270 280 290
RGASVFQVKL GNQNVETKQL LSASYEFQRE FTQGVKPDWT IARIEHSKLL E