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 Q9BY19

Entry ID Method Resolution Chain Position Source
AF-Q9BY19-F1 Predicted AlphaFoldDB

218 variants for Q9BY19

Variant ID(s) Position Change Description Diseaes Association Provenance
COSM171898
CA380596556
rs1426906759
3 S>L Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM312950
CA380596564
rs1168380345
CA380596565
4 M>I lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1196400733
CA380596561
4 M>T No ClinGen
TOPMed
TCGA novel 7 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1324974041
CA380596590
9 P>A No ClinGen
TOPMed
gnomAD
CA6025586
rs776863093
9 P>L Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1324974041
CA380596591
9 P>S No ClinGen
TOPMed
gnomAD
rs769797287
CA6025588
10 V>G No ClinGen
ExAC
gnomAD
TCGA novel 11 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1230100836
CA380596606
12 N>H No ClinGen
gnomAD
rs1318788556
CA380596632
15 L>F No ClinGen
TOPMed
CA6025591
rs762932701
16 V>M No ClinGen
ExAC
gnomAD
CA6025592
rs770893882
19 P>S No ClinGen
ExAC
gnomAD
CA380596660
rs1231408067
20 H>P No ClinGen
TOPMed
CA6025593
rs758758486
21 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA380596670
rs1590951000
22 G>S No ClinGen
Ensembl
rs778208143
CA222782877
24 P>A No ClinGen
TOPMed
TCGA novel 25 V>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1590951007
CA380596695
26 T>P No ClinGen
Ensembl
CA222782884
rs764484076
27 P>S No ClinGen
Ensembl
CA380596745
rs1398774909
30 M>I No ClinGen
TOPMed
CA380596741
rs1267065688
30 M>T No ClinGen
gnomAD
TCGA novel 31 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6025595
rs767109802
31 S>Y No ClinGen
ExAC
gnomAD
CA6025596
rs183590907
33 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs145052992
CA6025597
34 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA380596829
rs1490066290
37 P>A No ClinGen
gnomAD
CA380596833
rs1365621729
37 P>Q No ClinGen
TOPMed
gnomAD
CA6025599
rs753395781
38 N>S No ClinGen
ExAC
gnomAD
CA380596845
rs753395781
38 N>T No ClinGen
ExAC
gnomAD
CA222782955
rs202135543
39 S>N No ClinGen
Ensembl
rs143047257
CA6025600
41 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143047257
CA380596888
41 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6025605
rs143555218
42 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 42 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6025606
rs748309290
43 V>I No ClinGen
ExAC
gnomAD
COSM929267
CA380596942
rs1225836566
45 L>P Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs769987023
CA380596948
46 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA6025607
rs769987023
46 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA380596990
rs1221886351
49 N>K No ClinGen
gnomAD
rs1486982433
CA380597008
51 P>S No ClinGen
gnomAD
CA380597021
rs1275765118
52 S>G No ClinGen
TOPMed
CA6025608
COSM1215553
rs375232214
55 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1448246623
CA380597086
56 N>K No ClinGen
TOPMed
COSM415520
rs148191741
CA6025610
57 V>M Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA380597120
rs1385808197
59 G>A No ClinGen
gnomAD
rs1443436430
CA380597124
60 Q>* No ClinGen
gnomAD
rs1164216920
CA380597141
61 P>T No ClinGen
gnomAD
CA6025611
rs774307302
63 Q>R No ClinGen
ExAC
CA6025612
rs759256994
68 E>G No ClinGen
ExAC
gnomAD
rs775413798
CA6025615
73 G>E No ClinGen
ExAC
gnomAD
CA380597292
rs1287966512
73 G>R No ClinGen
gnomAD
TCGA novel 74 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764744158
CA6025637
74 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs987829871
CA222784040
77 I>M No ClinGen
TOPMed
CA222784047
rs919792697
78 I>N No ClinGen
Ensembl
rs931152285
CA222784050
79 I>T No ClinGen
TOPMed
CA380598009
rs1480289436
80 G>S No ClinGen
gnomAD
CA222784061
rs17852124
83 H>R No ClinGen
Ensembl
CA6025639
rs200488492
84 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6025642
rs145301373
85 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1264103818
CA380598122
86 L>F No ClinGen
Ensembl
CA380598128
rs1426650008
86 L>P No ClinGen
gnomAD
CA380598137
rs754004266
87 G>A No ClinGen
ExAC
gnomAD
CA6025644
rs754004266
87 G>D No ClinGen
ExAC
gnomAD
CA6025643
rs138969504
87 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6025646
rs142107924
89 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1213893118
CA380598194
90 M>T No ClinGen
TOPMed
gnomAD
rs976789781
CA222784111
90 M>V No ClinGen
TOPMed
gnomAD
rs572019233
CA6025647
COSM1676070
91 A>V central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA380598257
rs1590952163
93 V>G No ClinGen
Ensembl
VAR_053523
CA6025650
CA6025651
rs35956659
95 V>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1565051180
CA380598323
98 Y>* No ClinGen
Ensembl
rs1439385853
CA380598315
98 Y>H No ClinGen
TOPMed
rs1010275393
CA222784136
99 L>M No ClinGen
gnomAD
rs1217568795
CA380598332
99 L>P No ClinGen
gnomAD
TCGA novel 100 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380598340
rs1464724792
100 S>P No ClinGen
TOPMed
CA380598358
rs1475968855
101 I>V No ClinGen
gnomAD
rs149636295
CA6025655
103 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM118038
rs144254483
CA6025656
104 Y>* ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 104 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768046843
CA6025658
105 G>R No ClinGen
ExAC
gnomAD
rs1365103071
CA380598432
106 G>R No ClinGen
gnomAD
rs1565051202
CA380598436
106 G>V No ClinGen
Ensembl
rs1403811905
CA380598444
107 F>L No ClinGen
gnomAD
CA380598480
rs1171652496
109 F>L No ClinGen
TOPMed
TCGA novel 109 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762178932
CA222784159
110 W>C No ClinGen
Ensembl
CA6025659
rs775913216
110 W>L No ClinGen
ExAC
gnomAD
CA380598485
rs1455560107
110 W>R No ClinGen
TOPMed
rs1345547587
CA380598503
111 G>* No ClinGen
gnomAD
CA380598511
rs1254917581
112 G>S No ClinGen
TOPMed
CA380598535
rs1437381598
113 L>F No ClinGen
TOPMed
rs1461702963
CA380598529
113 L>S No ClinGen
TOPMed
gnomAD
rs1295255155
CA380598547
114 W>* No ClinGen
gnomAD
rs941234997
CA222784163
114 W>G No ClinGen
TOPMed
CA222785660
rs912007173
116 I>V No ClinGen
TOPMed
gnomAD
rs1326146779
CA380599134
120 S>C No ClinGen
gnomAD
TCGA novel 120 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140709117
CA6025688
123 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780966264
CA6025689
125 A>T No ClinGen
ExAC
gnomAD
CA6025690
rs752555528
125 A>V No ClinGen
ExAC
gnomAD
CA380599176
rs1225792659
127 N>Y No ClinGen
TOPMed
TCGA novel 128 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380599191
rs1590953754
128 Q>H No ClinGen
Ensembl
rs1346691776
CA380599189
128 Q>L No ClinGen
TOPMed
CA222785684
rs752189816
129 P>S No ClinGen
TOPMed
gnomAD
rs144721499
CA6025691
130 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777499721
CA6025692
133 C>F No ClinGen
ExAC
gnomAD
rs1249310065
CA380599219
133 C>R No ClinGen
gnomAD
rs777499721
CA380599221
133 C>Y No ClinGen
ExAC
gnomAD
CA380599227
rs1157303958
134 L>Q No ClinGen
gnomAD
CA6025708
rs752522397
136 S>C No ClinGen
ExAC
gnomAD
rs756068264
CA6025709
138 S>N No ClinGen
ExAC
gnomAD
rs1290922278
CA380599367
138 S>R No ClinGen
TOPMed
CA380599386
rs1379625690
140 G>S No ClinGen
gnomAD
CA380599393
rs1395112307
140 G>V No ClinGen
gnomAD
rs867334851
CA222786447
141 L>F No ClinGen
gnomAD
rs1304535142
CA380599417
142 N>K No ClinGen
gnomAD
rs748203143
CA222786449
143 I>V No ClinGen
Ensembl
CA380599433
rs147472289
144 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6025711
rs147472289
144 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6025712
rs567451277
145 S>G No ClinGen
1000Genomes
ExAC
gnomAD
rs907259071
CA222786459
145 S>N No ClinGen
TOPMed
CA380599452
rs1329782008
146 A>S No ClinGen
gnomAD
rs1219801986
CA380599468
147 I>M No ClinGen
TOPMed
CA380599465
rs1271335826
147 I>T No ClinGen
gnomAD
rs1002964494
CA222786463
149 S>F No ClinGen
TOPMed
rs1565052881
CA380599505
151 V>F No ClinGen
Ensembl
rs1002389014
CA222786467
152 G>A No ClinGen
TOPMed
gnomAD
CA380599517
rs1002389014
152 G>E No ClinGen
TOPMed
gnomAD
CA380599520
rs1438033850
153 V>I No ClinGen
TOPMed
CA6025715
rs757779271
154 I>M No ClinGen
ExAC
gnomAD
rs745414264
CA6025714
154 I>T No ClinGen
ExAC
gnomAD
CA222786472
rs960670603
155 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1327796421
CA380599568
157 I>T No ClinGen
TOPMed
CA380599588
rs1463831896
159 D>G No ClinGen
TOPMed
rs530030122
CA6025717
159 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs530030122
CA380599584
159 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs987737731
CA222786495
163 P>A No ClinGen
gnomAD
rs199567916
CA6025719
163 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs182001591
CA222786500
164 H>Q No ClinGen
1000Genomes
TOPMed
CA380599653
rs1423605597
165 P>S No ClinGen
gnomAD
TCGA novel 166 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6025720
rs773486448
166 Y>F No ClinGen
ExAC
gnomAD
rs1384299773
CA380599686
167 A>D No ClinGen
TOPMed
gnomAD
CA380599718
rs1181363672
169 P>L No ClinGen
TOPMed
rs780581740
CA6025724
170 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs201478139
CA6025722
170 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6025723
rs201478139
170 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1244303528
CA380599743
172 Y>N No ClinGen
gnomAD
rs139677781
CA222786522
173 P>A No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 173 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139677781
CA380599757
173 P>S No ClinGen
ESP
TOPMed
gnomAD
rs764071842
CA6025728
175 A>G No ClinGen
ExAC
gnomAD
CA6025726
rs775637715
175 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6025727
rs775637715
175 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6025729
rs753655631
177 G>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 177 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6025730
rs757007792
177 G>V No ClinGen
ExAC
gnomAD
rs752227539
CA6025773
179 N>K No ClinGen
ExAC
gnomAD
CA6025775
rs371762860
180 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA380600557
rs1343383898
COSM543976
180 P>L lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs371762860
CA6025774
180 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6025777
COSM689400
rs758725009
183 A>V lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 185 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774047809
CA222789554
185 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs560863829
CA6025781
187 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6025783
rs769742177
188 L>P No ClinGen
ExAC
gnomAD
rs762657573
CA6025785
190 V>L No ClinGen
ExAC
gnomAD
rs1290487923
CA380600750
191 F>L No ClinGen
gnomAD
TCGA novel 192 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs147400889
CA6025786
195 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA222789604
rs267603057
196 F>L No ClinGen
Ensembl
CA380600846
rs1294756554
197 G>D No ClinGen
gnomAD
CA222789610
rs35356499
198 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 198 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6025788
COSM929276
rs149745158
199 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 200 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745512206
CA222789614
200 C>S No ClinGen
Ensembl
rs200663288
CA6025789
200 C>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6025792
rs201465289
201 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA6025791
rs201465289
201 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA222789618
rs201465289
201 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA380600915
rs1372402116
201 A>V No ClinGen
TOPMed
rs1219833252
CA380600967
204 H>D No ClinGen
gnomAD
rs1386685992
CA380600991
205 F>L No ClinGen
Ensembl
CA6025793
rs750886877
205 F>S No ClinGen
ExAC
gnomAD
rs758819733
CA6025794
210 V>A No ClinGen
ExAC
gnomAD
rs1465733845
CA380601072
210 V>F No ClinGen
gnomAD
CA6025797
rs755242221
212 C>* No ClinGen
ExAC
gnomAD
rs751837079
CA6025796
212 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs781342837
CA6025798
213 Q>P No ClinGen
ExAC
gnomAD
CA380601164
TCGA novel
rs756117147
215 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
rs1178196727
CA380601171
216 N>D No ClinGen
gnomAD
rs777581334
CA6025801
216 N>S No ClinGen
ExAC
gnomAD
rs1207504383
CA380601240
217 V>L No ClinGen
gnomAD
rs1207504383
CA380601238
217 V>M No ClinGen
gnomAD
rs776252839
CA6025830
218 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1424790781
CA380601278
219 V>I No ClinGen
Ensembl
rs761178094
CA6025831
220 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1317267346
CA380601345
223 N>D No ClinGen
TOPMed
CA6025833
rs146666911
225 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6025834
rs759903573
228 N>I No ClinGen
ExAC
gnomAD
rs767924404
CA6025835
229 P>L No ClinGen
ExAC
gnomAD
CA380601455
rs1245425172
230 V>M No ClinGen
gnomAD
rs1411183112
CA380601475
232 T>S No ClinGen
gnomAD
rs1289846429
CA380601485
233 P>L No ClinGen
gnomAD
CA380601482
rs1369574290
233 P>S No ClinGen
gnomAD
CA6025838
rs761009887
234 E>G No ClinGen
ExAC
gnomAD
CA6025839
rs764177475
235 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA222789798
rs960118641
235 P>S No ClinGen
TOPMed
rs375920027
CA6025841
237 T>I No ClinGen
ESP
ExAC
CA6025842
rs778923717
240 P>S No ClinGen
ExAC
gnomAD
CA380601546
rs750444624
241 S>N No ClinGen
ExAC
gnomAD
CA6025843
rs750444624
241 S>T No ClinGen
ExAC
gnomAD
rs1275554276
CA380601556
242 Y>* No ClinGen
gnomAD

No associated diseases with Q9BY19

No regional properties for Q9BY19

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9BY19

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
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MNSMTSAVPV ANSVLVVAPH NGYPVTPGIM SHVPLYPNSQ PQVHLVPGNP PSLVSNVNGQ
70 80 90 100 110 120
PVQKALKEGK TLGAIQIIIG LAHIGLGSIM ATVLVGEYLS ISFYGGFPFW GGLWFIISGS
130 140 150 160 170 180
LSVAAENQPY SYCLLSGSLG LNIVSAICSA VGVILFITDL SIPHPYAYPD YYPYAWGVNP
190 200 210 220 230 240
GMAISGVLLV FCLLEFGIAC ASSHFGCQLV CCQSSNVSVI YPNIYAANPV ITPEPVTSPP
SYSSEIQANK