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 Q9HBU1

Entry ID Method Resolution Chain Position Source
2DMT NMR - A 133-199 PDB
AF-Q9HBU1-F1 Predicted AlphaFoldDB

209 variants for Q9HBU1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1587810156
CA374334954
3 R>W No ClinGen
Ensembl
rs895896348
CA196447569
4 P>S No ClinGen
TOPMed
gnomAD
CA374334940
rs1304665974
5 G>V No ClinGen
gnomAD
rs1483686725
CA374334939
6 E>K No ClinGen
TOPMed
rs774263956
CA5133429
7 P>L No ClinGen
ExAC
TOPMed
gnomAD
COSM3395936
CA374334931
rs1190383513
7 P>S pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
CA374334911
rs1262291713
10 A>E No ClinGen
gnomAD
TCGA novel 10 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374334892
rs1356935133
13 G>C No ClinGen
gnomAD
rs1356935133
CA374334894
13 G>S No ClinGen
gnomAD
rs770854053
CA5133428
14 P>T No ClinGen
ExAC
gnomAD
CA374334879
rs1246522511
15 P>R No ClinGen
gnomAD
rs867917015
CA196447556
16 E>* No ClinGen
Ensembl
CA374334867
rs1338964571
17 G>D No ClinGen
gnomAD
rs1412540917
CA374334860
18 C>S No ClinGen
TOPMed
CA196447550
rs934796935
19 A>P No ClinGen
TOPMed
gnomAD
CA374334856
rs934796935
19 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 19 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374334848
rs1448262683
20 D>A No ClinGen
TOPMed
CA196447546
rs924748384
22 R>Q No ClinGen
TOPMed
gnomAD
CA374334834
rs1314290662
22 R>W No ClinGen
TOPMed
CA374334821
rs1288504701
24 H>R No ClinGen
TOPMed
CA374334817
rs1353455167
25 R>C No ClinGen
TOPMed
CA374334814
rs1218028254
25 R>H No ClinGen
TOPMed
rs1327136481
CA374334800
27 R>L No ClinGen
TOPMed
gnomAD
CA196447542
rs866099103
28 S>I No ClinGen
Ensembl
rs1303027019
CA374334782
30 M>L No ClinGen
gnomAD
rs1253384506
CA374334772
31 I>V No ClinGen
TOPMed
gnomAD
rs1201657492
CA374334732
36 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 37 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1182986365
CA374334713
39 P>L No ClinGen
TOPMed
rs1418324655
CA374334709
40 G>E No ClinGen
TOPMed
gnomAD
rs781194809
CA5133426
40 G>R No ClinGen
ExAC
gnomAD
rs1476079637
CA374334695
42 K>M No ClinGen
TOPMed
gnomAD
CA374334693
rs1373164993
42 K>N No ClinGen
gnomAD
rs1476079637
CA374334696
42 K>R No ClinGen
TOPMed
gnomAD
CA374334683
rs1489837185
44 A>G No ClinGen
TOPMed
gnomAD
CA196447525
rs560200241
44 A>T No ClinGen
1000Genomes
gnomAD
rs1489837185
CA374334682
44 A>V No ClinGen
TOPMed
gnomAD
rs1175286609
CA374334678
45 A>E No ClinGen
TOPMed
rs1271031550
CA374334681
45 A>T No ClinGen
TOPMed
gnomAD
CA374334671
rs1563990316
46 P>H No ClinGen
Ensembl
rs1437054497
CA374334669
47 A>T No ClinGen
gnomAD
rs191789925
VAR_010927
CA5133425
48 A>T No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA374334656
rs1216574487
49 A>T No ClinGen
gnomAD
rs1340093500
CA374334652
49 A>V No ClinGen
gnomAD
rs576837358
CA5133424
51 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374334643
rs1347925732
51 A>V No ClinGen
gnomAD
rs1441897044
CA374334635
52 A>V No ClinGen
gnomAD
CA374334624
rs1353143378
54 G>A No ClinGen
gnomAD
rs758702906
CA5133422
56 L>Q No ClinGen
ExAC
gnomAD
rs1400661440
CA374334601
58 K>R No ClinGen
TOPMed
gnomAD
CA374334597
rs1587810002
59 F>L No ClinGen
Ensembl
rs1273016991
CA374334589
60 G>S No ClinGen
TOPMed
rs1479197274
CA374334580
61 V>E No ClinGen
TOPMed
gnomAD
CA374334578
rs1479197274
61 V>G No ClinGen
TOPMed
gnomAD
CA196447495
rs964462092
62 Q>R No ClinGen
TOPMed
rs1200103921
CA374334566
63 A>G No ClinGen
gnomAD
rs941962960
CA374334551
66 A>E No ClinGen
gnomAD
CA196447492
rs941962960
66 A>G No ClinGen
gnomAD
CA374334544
rs1449899122
67 A>V No ClinGen
TOPMed
CA374334541
rs1563990263
68 R>Q No ClinGen
Ensembl
TCGA novel 69 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1198280925
CA374334510
72 S>R No ClinGen
TOPMed
rs773164189
CA5133406
75 A>D No ClinGen
ExAC
gnomAD
rs773164189
CA374334479
75 A>V No ClinGen
ExAC
gnomAD
CA374334477
rs1313862806
76 V>M No ClinGen
TOPMed
gnomAD
CA374334463
rs1302918191
78 K>R No ClinGen
gnomAD
rs1489234016
CA374334451
80 E>* No ClinGen
gnomAD
rs1489234016
CA374334453
80 E>K No ClinGen
gnomAD
rs867705180
CA196446454
81 Q>* No ClinGen
Ensembl
rs865878957
CA196446450
84 V>L No ClinGen
Ensembl
CA374334414
rs1161255040
85 F>L No ClinGen
gnomAD
rs1171309735
CA374334412
86 K>E No ClinGen
TOPMed
CA5133403
rs747038748
86 K>N No ClinGen
ExAC
gnomAD
CA374334397
rs1587809079
88 P>A No ClinGen
Ensembl
CA5133402
rs780245526
88 P>Q No ClinGen
ExAC
gnomAD
rs541371621
CA374334392
89 L>V No ClinGen
TOPMed
rs746115723
CA5133400
92 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA374334370
rs1185977992
93 G>C No ClinGen
gnomAD
rs1484955097
CA374334369
93 G>D No ClinGen
gnomAD
rs1185977992
CA374334371
93 G>R No ClinGen
gnomAD
CA5133399
rs549526966
94 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs532945486
CA5133398
95 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA374334358
rs1442164135
95 S>P No ClinGen
TOPMed
rs1343899
CA196446417
96 G>R No ClinGen
Ensembl
CA374334346
rs1379510866
97 L>P No ClinGen
TOPMed
CA5133396
rs778400548
98 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA196446406
rs778400548
98 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1361139386
CA374334339
98 S>R No ClinGen
TOPMed
gnomAD
rs1313049531
CA374334333
99 S>F No ClinGen
gnomAD
CA5133395
rs756740714
100 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1213446917
CA374334330
100 A>T No ClinGen
gnomAD
TCGA novel 101 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs45527632
CA196446393
103 A>T No ClinGen
Ensembl
CA374334308
rs1245867728
104 A>S No ClinGen
TOPMed
gnomAD
rs767061973
CA5133393
105 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs544075964
CA5133392
106 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5133391
rs544075964
106 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5133389
CA374334295
rs531602020
107 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531602020
CA5133390
107 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1421759690
CA374334280
110 G>S No ClinGen
TOPMed
gnomAD
CA374334273
rs201946673
111 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5133387
rs201946673
111 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1044700919
CA196446345
112 A>T No ClinGen
TOPMed
CA374334266
rs1267457561
112 A>V No ClinGen
gnomAD
rs1403090266
CA374334257
114 A>T No ClinGen
TOPMed
CA5133386
rs761812989
116 H>P No ClinGen
ExAC
gnomAD
rs772214631
CA5133384
117 L>M No ClinGen
ExAC
gnomAD
rs1218772762
CA374334229
118 P>L No ClinGen
gnomAD
CA5133381
rs771325755
121 L>F No ClinGen
ExAC
gnomAD
rs1391213209
CA374334202
122 Q>H No ClinGen
gnomAD
rs373384950
CA196446326
123 L>F No ClinGen
ESP
TOPMed
gnomAD
rs1460666524
CA374334192
COSM1184445
124 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA5133380
rs369928804
129 A>S No ClinGen
ESP
ExAC
gnomAD
rs1427777963
CA374334154
130 A>E No ClinGen
gnomAD
rs868608877
CA374334148
131 G>D No ClinGen
gnomAD
CA196446306
rs868608877
131 G>V No ClinGen
gnomAD
rs778351778
CA5133379
132 P>R No ClinGen
ExAC
gnomAD
rs770498173
CA196446301
134 E>D No ClinGen
Ensembl
rs748707341
CA5133377
136 G>S No ClinGen
ExAC
gnomAD
rs780522907
CA5133376
137 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs780522907
CA374334114
137 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1198689451
CA374334099
139 A>V No ClinGen
gnomAD
CA5133375
rs754547962
140 K>R No ClinGen
ExAC
gnomAD
CA374334080
rs1261122752
142 G>E No ClinGen
gnomAD
TCGA novel 142 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374334074
rs1331406485
143 R>H No ClinGen
TOPMed
gnomAD
rs866954519
CA196446272
145 S>I No ClinGen
gnomAD
rs866954519
CA374334063
145 S>N No ClinGen
gnomAD
rs1389519411
CA374334055
146 R>H No ClinGen
gnomAD
CA374334027
rs1332350470
151 E>K No ClinGen
gnomAD
CA374334012
rs1179141312
153 Q>* No ClinGen
gnomAD
rs1466998124
CA374334007
153 Q>H No ClinGen
gnomAD
TCGA novel 158 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765995311
CA5133373
162 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA374333929
rs142710643
164 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1239576202
CA374333936
164 Q>K No ClinGen
gnomAD
rs750149824
CA5133371
169 T>K No ClinGen
ExAC
gnomAD
rs750149824
COSM1111311
CA374333896
169 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs531210852
CA196446241
170 P>L No ClinGen
gnomAD
rs778532537
CA5133352
173 I>T No ClinGen
ExAC
gnomAD
rs1231334745
CA374333848
175 L>I No ClinGen
TOPMed
CA5133349
rs556916619
181 L>M No ClinGen
1000Genomes
ExAC
gnomAD
CA5133348
rs201922522
184 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374333784
rs1263813289
185 Q>* No ClinGen
gnomAD
TCGA novel 187 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5133347
rs751625001
193 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA196446152
rs904775426
194 R>M No ClinGen
Ensembl
CA374333713
rs1198131040
195 M>L No ClinGen
gnomAD
rs1382974696
CA374333672
200 I>V No ClinGen
gnomAD
rs745365151
CA5133318
201 V>M No ClinGen
ExAC
gnomAD
rs557180708
CA196445848
203 Q>R No ClinGen
gnomAD
CA374333635
rs1587808587
204 G>C No ClinGen
Ensembl
rs770548524
CA5133316
204 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA374333627
rs1175534327
205 G>D No ClinGen
gnomAD
rs1400402143
CA374333630
205 G>S No ClinGen
gnomAD
CA5133315
rs748908921
206 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs957172729
CA196445824
208 E>A No ClinGen
TOPMed
gnomAD
rs957172729
CA374333611
208 E>G No ClinGen
TOPMed
gnomAD
CA374333596
rs1180771426
210 P>L No ClinGen
gnomAD
CA5133314
rs149189558
211 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1239629658
CA374333594
211 T>P No ClinGen
TOPMed
TCGA novel 215 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374333560
rs1235663514
216 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1279996964
CA374333561
216 R>W No ClinGen
gnomAD
TCGA novel 217 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs948370232
CA196445817
218 K>R No ClinGen
TOPMed
gnomAD
CA5133310
rs755024473
220 N>I No ClinGen
ExAC
gnomAD
CA5133309
rs145379597
222 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374333517
rs1157606968
223 P>S No ClinGen
TOPMed
rs992336948
CA196445787
224 T>A No ClinGen
gnomAD
rs757450124
CA5133307
224 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA5133308
rs757450124
224 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs746558122
CA196445762
225 S>R No ClinGen
Ensembl
CA196445760
rs961583468
226 E>Q No ClinGen
TOPMed
CA374333493
rs1324622909
227 Q>K No ClinGen
gnomAD
rs201122153
CA5133305
228 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201122153
CA5133306
228 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 229 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs560651229
CA5133304
230 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA196445750
rs972503300
233 R>C No ClinGen
TOPMed
CA374333449
rs1378266524
233 R>L No ClinGen
TOPMed
gnomAD
CA374333453
rs972503300
233 R>S No ClinGen
TOPMed
CA374333446
rs1446509008
234 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1181808628
CA374333434
236 D>N No ClinGen
gnomAD
TCGA novel 238 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5133300
rs773850927
238 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1215715737
CA374333411
239 K>* No ClinGen
gnomAD
CA374333401
rs1288596242
240 P>L No ClinGen
gnomAD
rs770372550
CA5133299
240 P>T No ClinGen
ExAC
gnomAD
rs1313975275
CA374333398
241 A>E No ClinGen
TOPMed
gnomAD
rs758410858
CA196445734
241 A>T No ClinGen
TOPMed
gnomAD
rs1313975275
CA374333396
241 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1587808480
CA374333382
243 V>G No ClinGen
Ensembl
CA374333385
rs1226080454
243 V>L No ClinGen
gnomAD
CA374333378
rs1239139496
244 P>L No ClinGen
TOPMed
CA374333367
rs1429948249
246 E>* No ClinGen
gnomAD
CA374333357
rs1423783980
247 P>R No ClinGen
gnomAD
CA374333354
rs1358624725
248 S>G No ClinGen
gnomAD
rs772711999
CA5133297
248 S>N No ClinGen
ExAC
gnomAD
CA374333346
rs1456235522
249 D>H No ClinGen
TOPMed
CA374333347
rs1456235522
249 D>N No ClinGen
TOPMed
CA374333348
rs1456235522
249 D>Y No ClinGen
TOPMed
CA374333334
rs1365144935
250 R>S No ClinGen
gnomAD
CA374333339
rs1171882411
250 R>W No ClinGen
gnomAD
rs374624014
CA196445726
252 R>H No ClinGen
ESP
TOPMed
gnomAD
rs374624014
CA196445722
252 R>L No ClinGen
ESP
TOPMed
gnomAD
rs199527359
CA5133294
253 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q9HBU1

5 regional properties for Q9HBU1

Type Name Position InterPro Accession
conserved_site Helix-turn-helix motif 171 - 196 IPR000047
domain Homeobox domain 140 - 204 IPR001356
conserved_site Homeobox, conserved site 175 - 198 IPR017970
domain Homeobox domain, metazoa 164 - 175 IPR020479-1
domain Homeobox domain, metazoa 179 - 198 IPR020479-2

Functions

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

2 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.

3 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.

7 GO annotations of biological process

Name Definition
anterior/posterior pattern specification The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
digestive system development The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.
endothelial cell differentiation The process in which a mesodermal, bone marrow or neural crest cell acquires specialized features of an endothelial cell, a thin flattened cell. A layer of such cells lines the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
negative regulation of Wnt signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
spleen development The process whose specific outcome is the progression of the spleen over time, from its formation to the mature structure. The spleen is a large vascular lymphatic organ composed of white and red pulp, involved both in hemopoietic and immune system functions.
Wnt signaling pathway The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9DED6 BARX1B Homeobox protein BarH-like 1b Gallus gallus (Chicken) PR
Q6RFL5 BSX Brain-specific homeobox protein homolog Gallus gallus (Chicken) PR
Q9W6D8 BARX1 Homeobox protein BarH-like 1 Gallus gallus (Chicken) PR
Q9UMQ3 BARX2 Homeobox protein BarH-like 2 Homo sapiens (Human) PR
Q3C1V8 BSX Brain-specific homeobox protein homolog Homo sapiens (Human) PR
Q9ER42 Barx1 Homeobox protein BarH-like 1 Mus musculus (Mouse) PR
Q810B3 Bsx Brain-specific homeobox protein homolog Mus musculus (Mouse) PR
10 20 30 40 50 60
MQRPGEPGAA RFGPPEGCAD HRPHRYRSFM IEEILTEPPG PKGAAPAAAA AAAGELLKFG
70 80 90 100 110 120
VQALLAARPF HSHLAVLKAE QAAVFKFPLA PLGCSGLSSA LLAAGPGLPG AAGAPHLPLE
130 140 150 160 170 180
LQLRGKLEAA GPGEPGTKAK KGRRSRTVFT ELQLMGLEKR FEKQKYLSTP DRIDLAESLG
190 200 210 220 230 240
LSQLQVKTWY QNRRMKWKKI VLQGGGLESP TKPKGRPKKN SIPTSEQLTE QERAKDAEKP
250
AEVPGEPSDR SRED