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 Q4VXA5

Entry ID Method Resolution Chain Position Source
AF-Q4VXA5-F1 Predicted AlphaFoldDB

224 variants for Q4VXA5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1229798693
CA364698652
2 L>V No ClinGen
gnomAD
rs1291795324
CA364698543
9 F>L No ClinGen
TOPMed
gnomAD
rs1414612160
CA364698535
9 F>S No ClinGen
gnomAD
rs1291795324
CA364698541
9 F>V No ClinGen
TOPMed
gnomAD
rs928686184
CA140915203
10 R>* No ClinGen
gnomAD
rs1562263204
CA364698517
10 R>L No ClinGen
Ensembl
rs1452275421
CA364698505
11 V>A No ClinGen
gnomAD
rs1344630209
CA364698481
13 F>L No ClinGen
TOPMed
gnomAD
CA364698479
rs1344630209
13 F>V No ClinGen
TOPMed
gnomAD
CA140915202
rs981481837
15 I>T No ClinGen
TOPMed
rs1332436720
CA364698431
16 E>Q No ClinGen
TOPMed
CA364698411
rs1215264684
17 T>A No ClinGen
TOPMed
CA140915196
rs778488974
17 T>R No ClinGen
TOPMed
gnomAD
TCGA novel 18 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364698353
rs1175667283
21 Y>* No ClinGen
TOPMed
CA3887691
rs16883573
21 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA364698355
rs16883573
21 Y>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA364698344
rs1186945372
23 V>I No ClinGen
gnomAD
rs1184650914
CA364698319
26 F>L No ClinGen
gnomAD
CA140915185
rs868770597
30 W>* No ClinGen
TOPMed
gnomAD
rs1260763132
CA364698287
31 P>S No ClinGen
gnomAD
rs16883571
CA3887690
34 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA140915183
rs547364947
35 T>I No ClinGen
gnomAD
rs547364947
CA364698259
35 T>N No ClinGen
gnomAD
rs781408044
CA3887688
37 A>T No ClinGen
ExAC
rs1001451392
CA140915162
CA364698219
42 G>R No ClinGen
TOPMed
gnomAD
CA364698206
rs1380980355
44 V>A No ClinGen
gnomAD
CA364698208
rs768630898
44 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs768630898
CA3887687
44 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1374955417
CA364698179
48 L>F No ClinGen
TOPMed
CA364698169
rs1392553471
49 W>* No ClinGen
TOPMed
gnomAD
CA140915159
rs868362643
51 R>H No ClinGen
TOPMed
gnomAD
CA364698155
rs868362643
51 R>L No ClinGen
TOPMed
gnomAD
rs957280686
CA140915158
53 N>S No ClinGen
Ensembl
CA364698134
rs1168097103
55 E>Q No ClinGen
gnomAD
CA364694181
rs1170347160
56 R>T No ClinGen
gnomAD
rs890769600
CA140903477
57 N>I No ClinGen
TOPMed
TCGA novel 57 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs971734882
CA140903452
59 R>G No ClinGen
gnomAD
rs780083401
CA3887667
61 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs774391260
CA364694006
62 K>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 63 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1310718439
CA364693949
65 C>* No ClinGen
gnomAD
CA3887665
rs528957645
66 R>* No ClinGen
1000Genomes
ExAC
gnomAD
rs779414355
CA3887664
66 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 67 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3887663
rs757579049
69 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA3887638
rs766265823
70 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1300247596
CA364692617
70 S>P No ClinGen
TOPMed
CA140913660
rs893627537
73 S>N No ClinGen
Ensembl
CA364692585
rs1333812665
74 M>I No ClinGen
gnomAD
rs761526433
CA3887634
74 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1582547895
CA364692590
74 M>V No ClinGen
Ensembl
rs373331186
CA3887633
75 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767717346
CA140913626
76 M>K No ClinGen
ExAC
gnomAD
rs767717346
CA3887632
76 M>T No ClinGen
ExAC
gnomAD
rs1007360498
CA140913630
76 M>V No ClinGen
TOPMed
gnomAD
CA3887630
rs774462256
78 T>M Variant assessed as Somatic; 0.0002319 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA364692550
rs1231140579
80 A>T No ClinGen
Ensembl
rs1024166061
CA140913612
80 A>V No ClinGen
TOPMed
gnomAD
rs1413472857
CA364692544
81 L>V No ClinGen
TOPMed
gnomAD
CA3887628
rs749826107
82 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA3887626
rs201416149
84 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3887625
rs376978395
85 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA364692511
rs1562243606
86 W>R No ClinGen
Ensembl
CA3887623
rs369171739
86 W>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746548203
CA364692501
87 W>* No ClinGen
ExAC
gnomAD
rs746548203
CA3887622
87 W>S No ClinGen
ExAC
gnomAD
TCGA novel 88 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs548245687
CA140913564
88 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548245687
CA3887621
88 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA364692480
rs200533249
91 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3887619
rs200533249
91 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3887618
rs754860132
91 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA3887617
rs757105696
92 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs753630007
CA364692454
94 H>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 94 H>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376745877
CA3887613
97 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3887614
rs759735769
97 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs766512521
CA364692429
98 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs766512521
CA3887612
98 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs1490187990
CA364692431
98 V>L No ClinGen
gnomAD
rs867886156
CA140913511
101 M>I No ClinGen
TOPMed
gnomAD
rs1168449449
CA364692412
101 M>L No ClinGen
gnomAD
CA3887610
rs550735209
102 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA3887609
rs770418612
103 E>K No ClinGen
ExAC
gnomAD
rs1247571163
CA364692386
104 D>G No ClinGen
gnomAD
TCGA novel 105 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3887608
rs762308671
105 Q>E No ClinGen
ExAC
gnomAD
TCGA novel 106 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364692355
rs1273675337
108 L>P No ClinGen
gnomAD
rs372154414 110 F>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs777111995
CA3887606
110 F>S No ClinGen
ExAC
gnomAD
rs1205733250
CA364692344
110 F>V No ClinGen
gnomAD
CA3887604
rs746702488
111 G>R No ClinGen
ExAC
gnomAD
CA364692315
rs777623338
113 G>R No ClinGen
ExAC
gnomAD
rs777623338
CA3887579
113 G>S No ClinGen
ExAC
gnomAD
CA3887578
rs755951762
114 D>N No ClinGen
ExAC
gnomAD
rs752422077
CA364692291
116 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs761438108
CA140913232
116 Y>H No ClinGen
Ensembl
TCGA novel 116 Y>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364692295
rs1582547378
116 Y>S No ClinGen
Ensembl
rs780363800
CA3887576
117 L>R No ClinGen
ExAC
gnomAD
COSM3736425
CA3887574
rs202065785
118 R>C skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs202065785
CA3887575
118 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765437338
CA3887573
118 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA140913214
rs374110823
120 I>T No ClinGen
ESP
TOPMed
rs754408108
CA3887571
123 H>P No ClinGen
ExAC
gnomAD
CA3887572
rs761914474
123 H>Y No ClinGen
ExAC
gnomAD
CA3887570
rs764492118
124 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs761165148
CA3887569
125 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs775691188
CA3887568
130 L>P No ClinGen
ExAC
gnomAD
rs1562243398
CA364692201
131 E>* No ClinGen
Ensembl
rs767252028
CA3887567
CA364692197
131 E>D No ClinGen
ExAC
gnomAD
CA3887566
rs369480492
133 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3887564
rs150130213
137 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA140913131
rs150130213
137 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA364692155
rs1294555769
138 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs770433424
CA3887563
139 Q>* No ClinGen
ExAC
gnomAD
rs773192554
CA3887561
141 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs773192554
CA3887562
141 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs372741660
CA3887559
141 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3887560
rs372741660
141 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780872192
CA3887558
142 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA364692125
rs1210159353
143 T>I No ClinGen
gnomAD
rs754762273
CA364692117
145 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs754762273
CA3887557
145 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA3887554
rs757467678
146 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA3887555
rs779214439
146 G>R No ClinGen
ExAC
TOPMed
gnomAD
COSM3669645
CA364692110
rs757467678
146 G>V liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA140913049
rs925621462
148 H>Q No ClinGen
TOPMed
rs1315359842
CA364692094
149 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1364482608
CA364692067
153 W>R No ClinGen
gnomAD
rs369158621
CA3887552
153 W>S No ClinGen
ESP
ExAC
rs569098928
CA3887551
155 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA3887550
rs572106838
157 M>V No ClinGen
ExAC
gnomAD
TCGA novel 158 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3887548
rs753203314
159 C>Y No ClinGen
ExAC
gnomAD
rs181290286
CA3887547
162 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 164 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3887544
rs766005212
167 Y>C No ClinGen
ExAC
CA3887543
rs762518328
170 A>S No ClinGen
ExAC
gnomAD
rs768333060
CA3887542
171 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA140912974
COSM743173
rs199949364
171 R>P lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA3887541
rs199949364
171 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1582547115
CA364691941
172 G>S No ClinGen
Ensembl
TCGA novel 172 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3887526
rs766068547
175 M>I No ClinGen
ExAC
gnomAD
rs1483424596
CA364691912
175 M>L No ClinGen
TOPMed
CA3887525
rs762613619
176 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs375224084
CA3887524
176 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3887523
rs764657829
178 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3887522
rs761326459
178 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3887520
rs768707302
180 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA3887521
rs768707302
180 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA364691882
rs1418927716
180 R>P No ClinGen
TOPMed
gnomAD
rs1418927716
CA364691883
180 R>Q No ClinGen
TOPMed
gnomAD
rs1182897023
CA364691880
181 S>R No ClinGen
gnomAD
CA364691873
rs1371797987
181 S>R No ClinGen
TOPMed
CA364691876
rs1582546824
181 S>T No ClinGen
Ensembl
CA364691859
rs1409918530
183 P>L No ClinGen
TOPMed
CA364691842
rs887483060
186 N>K No ClinGen
TOPMed
rs1056613087
CA140912676
186 N>S No ClinGen
TOPMed
gnomAD
rs199979331
CA364691840
187 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199979331
CA3887517
187 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 187 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3887516
rs775405936
189 L>R No ClinGen
ExAC
gnomAD
CA3887514
rs563152950
190 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA3887515
rs368269816
190 V>I No ClinGen
ESP
ExAC
TOPMed
CA3887513
rs777989124
191 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3887512
rs769778458
192 S>Y No ClinGen
ExAC
gnomAD
CA3887510
rs781617538
193 I>T No ClinGen
ExAC
gnomAD
CA3887511
rs201194392
193 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs962762004
CA140912594
194 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA364691796
rs1325917283
194 S>R No ClinGen
gnomAD
rs200762693
CA3887508
195 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200762693
CA364691795
195 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1448651628
CA364691785
196 P>L No ClinGen
TOPMed
rs985482455
CA140912584
197 P>L No ClinGen
TOPMed
gnomAD
rs985482455
CA364691780
197 P>R No ClinGen
TOPMed
gnomAD
TCGA novel 197 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3887507
rs780425911
199 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1242477557
CA364691767
199 T>I No ClinGen
gnomAD
rs750055770
CA3887506
200 G>A No ClinGen
ExAC
gnomAD
CA3887505
rs750055770
200 G>E No ClinGen
ExAC
gnomAD
rs764925786
CA3887504
201 D>G No ClinGen
ExAC
gnomAD
TCGA novel 201 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364691729
rs1385811767
206 P>S No ClinGen
TOPMed
gnomAD
rs905343170
CA140912552
207 R>G No ClinGen
Ensembl
rs1319406218
CA364691724
207 R>K No ClinGen
gnomAD
CA3887502
rs753354797
207 R>S No ClinGen
ExAC
gnomAD
rs1171459251
CA364691720
208 I>V No ClinGen
TOPMed
rs764172574
CA364691713
209 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA364691711
rs1160697933
209 S>N No ClinGen
gnomAD
rs764172574
CA3887501
209 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA3887500
rs148053198
211 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs201705217
CA140912547
211 T>I No ClinGen
1000Genomes
CA364691695
rs367849614
212 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367849614
CA3887498
212 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1433374915
CA364691686
213 C>F No ClinGen
TOPMed
rs1462664535
CA364691690
213 C>R No ClinGen
gnomAD
CA364691678
rs1246286601
214 L>R No ClinGen
gnomAD
rs377447679
CA3887497
215 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1208300634
CA364691676
215 S>R No ClinGen
gnomAD
CA3887495
rs373674170
216 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 216 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355551928
CA364691637
221 P>H No ClinGen
gnomAD
rs748218067
CA3887494
221 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1228448344
CA364691613
224 V>A No ClinGen
gnomAD
TCGA novel 226 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs955895713
CA140912445
226 G>V No ClinGen
TOPMed
gnomAD
CA3887491
rs780480838
227 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA3887490
rs780480838
227 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA3887489
rs377743187
228 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs186941657
CA3887487
229 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs186941657
CA364691585
229 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1390476906
CA364691563
232 L>F No ClinGen
gnomAD
TCGA novel 232 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA140912428
rs778100429
233 S>N No ClinGen
Ensembl
CA3887485
rs753386664
234 S>L No ClinGen
ExAC
gnomAD
rs1467142886
CA364691545
235 L>P No ClinGen
TOPMed
rs1388366304
CA567683304
236 Y>* No ClinGen
gnomAD
rs538554497
CA3887484
237 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs538554497
CA3887483
237 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD

No associated diseases with Q4VXA5

7 regional properties for Q4VXA5

Type Name Position InterPro Accession
domain PKD domain 523 - 592 IPR000601
domain MANSC domain 49 - 127 IPR013980
domain PKD/Chitinase domain 312 - 401 IPR022409-1
domain PKD/Chitinase domain 409 - 498 IPR022409-2
domain PKD/Chitinase domain 504 - 594 IPR022409-3
domain PKD/Chitinase domain 600 - 688 IPR022409-4
domain PKD/Chitinase domain 694 - 785 IPR022409-5

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

1 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.

1 GO annotations of biological process

Name Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MLSAFQRLFR VLFVIETVSE YGVLIFIYGW PFLQTLAMLL IGTVSFHLWI RRNRERNSRS
70 80 90 100 110 120
GKTRCRSKRS EQSMDMGTSA LSKKPWWTLP QNFHAPMVFH MEEDQEELIF GHGDTYLRCI
130 140 150 160 170 180
EVHSHTLIQL ESWFTATGQT RVTVVGPHRA RQWLLHMFCC VGSQDSYHHA RGLEMLERVR
190 200 210 220 230
SQPLTNDDLV TSISVPPYTG DLSLAPRISG TVCLSVPQPS PYQVIGCSGF HLSSLYP