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 Q9H9H5

Entry ID Method Resolution Chain Position Source
AF-Q9H9H5-F1 Predicted AlphaFoldDB

218 variants for Q9H9H5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1412451282
CA355357180
2 A>P No ClinGen
TOPMed
rs1363765614
CA355357176
2 A>V No ClinGen
TOPMed
gnomAD
CA2723304
rs771395990
3 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1358048859
CA355357169
3 W>* No ClinGen
TOPMed
rs1448178502
CA355357162
4 P>L No ClinGen
TOPMed
rs1420868676
CA355357165
4 P>S No ClinGen
gnomAD
CA355357160
rs1157202636
5 C>R No ClinGen
gnomAD
CA355357152
rs1577254408
6 I>V No ClinGen
Ensembl
rs1408856588
CA355357144
7 S>C No ClinGen
TOPMed
rs1377908491
CA355357133
8 R>L No ClinGen
gnomAD
rs1197688594
CA355357132
9 L>M No ClinGen
gnomAD
CA355357121
rs1487925057
10 C>* No ClinGen
gnomAD
rs1216655892
CA355357124
10 C>F No ClinGen
gnomAD
rs1264735499
CA355357127
10 C>R No ClinGen
gnomAD
rs1216655892
CA355357122
10 C>Y No ClinGen
gnomAD
CA355357114
rs1220794872
11 C>* No ClinGen
gnomAD
rs749823342
CA355357115
11 C>F No ClinGen
ExAC
gnomAD
rs749823342
CA2723303
11 C>Y No ClinGen
ExAC
gnomAD
rs1345448060
CA355357112
12 L>M No ClinGen
gnomAD
rs1275715279
CA355357108
12 L>Q No ClinGen
gnomAD
CA355357104
rs1300119443
13 A>E No ClinGen
gnomAD
rs1343828370
CA355357106
13 A>P No ClinGen
TOPMed
gnomAD
CA355357107
rs1343828370
13 A>T No ClinGen
TOPMed
gnomAD
CA355357102
rs1300119443
13 A>V No ClinGen
gnomAD
rs1316834471
CA355357097
14 R>L No ClinGen
gnomAD
CA355357100
rs1360508811
14 R>W No ClinGen
gnomAD
rs1426291178
CA355357096
15 R>C No ClinGen
gnomAD
CA355357093
rs1172311031
15 R>H No ClinGen
gnomAD
rs1172311031
CA355357091
15 R>L No ClinGen
gnomAD
rs1426291178
CA355357094
15 R>S No ClinGen
gnomAD
rs1193772027
CA355357082
16 W>C No ClinGen
gnomAD
rs1425245420
CA355357085
16 W>L No ClinGen
gnomAD
rs1477202337
CA355357080
17 N>D No ClinGen
gnomAD
CA355357077
rs1240354202
17 N>S No ClinGen
gnomAD
CA355357071
rs1442885026
18 Q>* No ClinGen
gnomAD
rs867097085
CA88806391
18 Q>H No ClinGen
gnomAD
CA355357066
rs1201468733
19 L>M No ClinGen
gnomAD
rs1321683726
CA355357062
19 L>P No ClinGen
gnomAD
CA88806375
rs955076767
20 D>G No ClinGen
TOPMed
gnomAD
rs985747743
CA88806389
20 D>H No ClinGen
TOPMed
gnomAD
rs985747743
CA355357061
20 D>Y No ClinGen
TOPMed
gnomAD
rs1029283585
CA88806368
21 R>C No ClinGen
TOPMed
gnomAD
rs1360212745
CA355357053
21 R>H No ClinGen
gnomAD
CA355357051
rs1360212745
21 R>L No ClinGen
gnomAD
rs1402096381
CA355357045
22 S>F No ClinGen
TOPMed
gnomAD
rs1468513695
CA355357050
22 S>P No ClinGen
gnomAD
CA355357047
rs1402096381
22 S>Y No ClinGen
TOPMed
gnomAD
CA355357037
rs1416798490
23 D>E No ClinGen
gnomAD
rs1464686309
CA355357044
23 D>N No ClinGen
gnomAD
rs1464686309
CA355357042
23 D>Y No ClinGen
gnomAD
rs1183056543
CA355357034
24 V>L No ClinGen
gnomAD
CA355357036
rs1183056543
24 V>M No ClinGen
gnomAD
rs1473087047
CA355357025
25 A>V No ClinGen
TOPMed
gnomAD
CA355357024
rs1189367126
26 V>M No ClinGen
TOPMed
rs868388777
CA88806363
27 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1414997547
CA355356993
31 H>P No ClinGen
TOPMed
rs1260277084
CA355356986
32 G>C No ClinGen
gnomAD
TCGA novel 34 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1307092103
CA355356958
36 L>F No ClinGen
gnomAD
rs1230037795
CA355356937
39 E>* No ClinGen
TOPMed
gnomAD
rs1230037795
CA355356938
39 E>Q No ClinGen
TOPMed
gnomAD
rs868078982
CA88806357
41 P>S No ClinGen
gnomAD
CA355356914
rs1428696298
42 G>D No ClinGen
TOPMed
CA355356917
rs1314951002
42 G>S No ClinGen
gnomAD
rs769304543
CA2723301
43 T>M No ClinGen
ExAC
gnomAD
CA88806354
rs961100991
44 G>D No ClinGen
TOPMed
gnomAD
CA355356894
rs1017068925
46 A>S No ClinGen
TOPMed
gnomAD
rs1017068925
CA88806347
46 A>T No ClinGen
TOPMed
gnomAD
CA355356881
rs1166307553
48 S>* No ClinGen
TOPMed
gnomAD
CA355356879
rs1166307553
48 S>L No ClinGen
TOPMed
gnomAD
rs1405429727
CA355356878
49 R>C No ClinGen
TOPMed
gnomAD
CA355356877
rs1405429727
49 R>G No ClinGen
TOPMed
gnomAD
CA88806343
rs1005719253
49 R>L No ClinGen
TOPMed
gnomAD
rs959769906
CA88806337
51 G>R No ClinGen
TOPMed
gnomAD
rs551404235
CA2723300
51 G>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1033968335
CA88806336
53 P>T No ClinGen
TOPMed
gnomAD
CA355356848
rs1238589623
54 P>A No ClinGen
gnomAD
rs1238589623
CA355356849
54 P>S No ClinGen
gnomAD
CA355356838
rs1177738658
55 A>V No ClinGen
gnomAD
CA355356824
rs1560357825
58 R>Q No ClinGen
Ensembl
rs780698630
CA2723299
58 R>W No ClinGen
ExAC
gnomAD
rs1231340008
CA355356800
62 R>W No ClinGen
TOPMed
gnomAD
rs1322403470
CA355356787
64 V>L No ClinGen
gnomAD
rs545671364
CA88806300
65 P>Q No ClinGen
gnomAD
TCGA novel 68 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1448397991
CA355356750
69 Y>* No ClinGen
TOPMed
CA355356753
rs1577254105
69 Y>C No ClinGen
Ensembl
CA355356748
rs1042397257
70 Q>* No ClinGen
TOPMed
gnomAD
rs1042397257
CA88806285
70 Q>E No ClinGen
TOPMed
gnomAD
rs1310455905
CA355356738
71 R>L No ClinGen
gnomAD
CA355356740
rs1310455905
71 R>Q No ClinGen
gnomAD
CA355356741
rs1356418752
71 R>W No ClinGen
TOPMed
gnomAD
rs1391122161
CA355356737
72 D>N No ClinGen
gnomAD
rs1370799895
CA355356711
74 G>D No ClinGen
gnomAD
CA355356714
rs1403266506
74 G>R No ClinGen
TOPMed
rs1370799895
CA355356708
74 G>V No ClinGen
gnomAD
CA88806276
rs77515107
75 L>W No ClinGen
Ensembl
CA355356668
rs1350837763
78 T>A No ClinGen
TOPMed
rs1294916055
CA355356659
79 P>T No ClinGen
gnomAD
rs1054241938
CA88806254
83 K>N No ClinGen
TOPMed
gnomAD
rs1364379567
CA355356614
83 K>R No ClinGen
TOPMed
gnomAD
CA355356591
rs1577254041
85 P>L No ClinGen
Ensembl
CA2723296
rs568881694
86 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA88806241
rs1049706088
86 P>S No ClinGen
TOPMed
gnomAD
CA88806235
rs1049706088
86 P>T No ClinGen
TOPMed
gnomAD
rs758363343
CA2723295
87 P>S No ClinGen
ExAC
gnomAD
rs1246156706
CA355356568
88 G>E No ClinGen
TOPMed
rs750399591
CA2723294
89 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA88806194
rs972388049
90 G>* No ClinGen
TOPMed
CA355356542
rs1162352794
91 P>S No ClinGen
TOPMed
rs1414951131
CA355356532
92 G>E No ClinGen
TOPMed
rs1319001250
CA355356514
94 G>S No ClinGen
TOPMed
rs1388487338
CA355356493
96 R>C No ClinGen
TOPMed
CA88806192
rs528962937
98 G>D No ClinGen
1000Genomes
rs961007375
CA88806191
99 K>N No ClinGen
TOPMed
CA355356435
rs1406146908
101 S>F No ClinGen
gnomAD
CA355356429
rs760667646
102 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA2723293
COSM3695937
rs370227160
102 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA2723292
rs760667646
102 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA355356410
rs1266032541
104 S>P No ClinGen
TOPMed
rs1287352837
CA355356382
106 A>V No ClinGen
gnomAD
rs752878396
CA2723291
107 P>R No ClinGen
ExAC
CA355356377
rs1315467539
107 P>T No ClinGen
gnomAD
TCGA novel 108 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355356342
rs1300755220
110 P>L No ClinGen
TOPMed
gnomAD
rs1300755220
CA355356344
110 P>R No ClinGen
TOPMed
gnomAD
rs1186361264
CA355356347
110 P>S No ClinGen
TOPMed
CA88806159
rs996799680
111 G>D No ClinGen
Ensembl
CA355356341
rs1361157524
111 G>S No ClinGen
gnomAD
CA88806152
rs970981446
112 A>P No ClinGen
TOPMed
gnomAD
rs1360663642
CA355356320
113 R>C No ClinGen
gnomAD
CA355356323
rs1360663642
113 R>S No ClinGen
gnomAD
CA355356305
rs964325398
114 G>A No ClinGen
TOPMed
CA88806151
rs964325398
114 G>E No ClinGen
TOPMed
CA355356313
rs1176461144
114 G>R No ClinGen
gnomAD
rs1019462828
CA88806146
115 V>I No ClinGen
TOPMed
gnomAD
rs1428784968
CA355356290
116 Y>C No ClinGen
TOPMed
gnomAD
rs1478840611
CA355356280
117 V>E No ClinGen
gnomAD
rs1197432974
CA355356282
117 V>L No ClinGen
gnomAD
CA355356281
rs1197432974
117 V>M No ClinGen
gnomAD
CA355356277
rs1263090362
118 L>M No ClinGen
gnomAD
rs528408351
CA2723288
119 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771303753
CA355356264
120 I>L No ClinGen
ExAC
gnomAD
CA2723287
rs771303753
120 I>V No ClinGen
ExAC
gnomAD
CA2723285
rs545006671
121 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355356229
rs1334961531
123 A>S No ClinGen
TOPMed
rs1357553038
CA355356217
124 D>A No ClinGen
TOPMed
rs747592296
CA2723283
125 A>T No ClinGen
ExAC
gnomAD
CA88806088
rs1008036778
127 A>P No ClinGen
TOPMed
CA88806081
rs556401220
130 T>A No ClinGen
1000Genomes
CA355356141
rs1380481799
131 T>K No ClinGen
TOPMed
gnomAD
rs1294833422
CA355356146
131 T>S No ClinGen
gnomAD
CA355356132
rs1303223379
132 S>* No ClinGen
gnomAD
CA2723268
rs375663308
138 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2723267
rs763296244
139 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA2723266
rs552622624
142 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1180858614
CA355355015
142 G>R No ClinGen
gnomAD
CA355354993
rs1193640815
145 P>L No ClinGen
gnomAD
rs534835483
CA2723265
145 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA355354991
rs1343824093
146 S>P No ClinGen
TOPMed
rs762417809
CA2723264
147 R>G No ClinGen
ExAC
gnomAD
CA2723263
rs775959153
147 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA2723262
rs768225948
148 S>C No ClinGen
ExAC
gnomAD
rs1311187474
CA355354949
152 K>N No ClinGen
gnomAD
CA2723261
rs373151457
153 P>A No ClinGen
ESP
ExAC
gnomAD
CA2723259
rs771910480
154 A>G No ClinGen
ExAC
gnomAD
rs775278881
CA355354942
154 A>P No ClinGen
ExAC
gnomAD
CA2723260
rs775278881
154 A>T No ClinGen
ExAC
gnomAD
rs570590442
CA2723257
155 R>* No ClinGen
1000Genomes
ExAC
gnomAD
CA2723258
rs570590442
155 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA2723256
rs757103099
155 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749266192
CA2723255
158 T>A No ClinGen
ExAC
CA355354919
rs1303785644
158 T>I No ClinGen
gnomAD
CA2723254
rs137891664
159 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2723251
rs766568506
160 H>P No ClinGen
ExAC
gnomAD
rs751702934
CA2723252
160 H>Y No ClinGen
ExAC
gnomAD
rs750749698
CA2723249
161 T>I No ClinGen
ExAC
gnomAD
rs758662891
CA2723250
161 T>P No ClinGen
ExAC
gnomAD
CA355354900
rs200895198
162 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA2723247
rs200895198
162 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs764577957
CA2723245
164 W>R No ClinGen
ExAC
gnomAD
rs760250180
CA2723244
166 S>G No ClinGen
ExAC
gnomAD
CA2723243
rs775186756
166 S>T No ClinGen
ExAC
gnomAD
rs771818432
CA2723242
168 P>L No ClinGen
ExAC
gnomAD
rs771818432
CA355354858
168 P>R No ClinGen
ExAC
gnomAD
CA2723241
rs536995855
169 G>V No ClinGen
1000Genomes
ExAC
gnomAD
rs11544780
CA88798168
171 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs867410269
CA88798166
171 G>D No ClinGen
Ensembl
rs11544780
CA2723239
171 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749110009
CA2723238
173 Q>* No ClinGen
ExAC
gnomAD
rs1321617841
CA355354811
175 P>A No ClinGen
gnomAD
CA355354799
rs1215176025
176 E>D No ClinGen
gnomAD
rs1275207272
CA355354802
176 E>G No ClinGen
TOPMed
gnomAD
rs766247025
CA88797404
176 E>Q No ClinGen
Ensembl
CA2723212
rs779184025
177 V>G No ClinGen
ExAC
gnomAD
CA355354797
rs1339371318
177 V>M No ClinGen
gnomAD
rs1383963637
CA355354791
178 R>K No ClinGen
gnomAD
rs1336435405
CA355354776
180 K>* No ClinGen
TOPMed
gnomAD
CA355354773
rs1450050668
180 K>M No ClinGen
TOPMed
gnomAD
rs1170551995
CA355354754
183 P>S No ClinGen
gnomAD
CA355354741
rs1408851698
185 P>A No ClinGen
TOPMed
gnomAD
CA355354740
rs1408851698
185 P>S No ClinGen
TOPMed
gnomAD
CA355354742
rs1408851698
185 P>T No ClinGen
TOPMed
gnomAD
CA355354732
rs1347233400
186 S>C No ClinGen
TOPMed
CA88797349
rs867682635
187 A>T No ClinGen
TOPMed
gnomAD
rs1242333776
CA355354725
188 I>L No ClinGen
gnomAD
rs1257926738
CA355354709
190 Q>K No ClinGen
gnomAD
rs1181446978
CA355354696
191 A>V No ClinGen
gnomAD
rs1234799977
CA355354689
192 S>L No ClinGen
TOPMed
gnomAD
CA355354677
rs1205390920
193 A>V No ClinGen
gnomAD
rs62285797
CA88797340
194 P>L No ClinGen
gnomAD
rs1437285588
CA355354675
194 P>T No ClinGen
TOPMed
gnomAD
rs778312659
CA355354656
195 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs778312659
CA2723209
195 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs754196904
CA2723210
195 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1314802106
CA355354651
196 I>V No ClinGen
gnomAD
rs1244167232
CA355354637
197 L>I No ClinGen
gnomAD
rs756638893
CA2723208
199 V>M No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q9H9H5

No regional properties for Q9H9H5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9H9H5

Functions

Description
EC Number
Subcellular Localization
  • Golgi apparatus
  • Cytoplasm, cytoskeleton
  • Colocalizes with microtubules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cis-Golgi network The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum.
Golgi-associated vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.

2 GO annotations of molecular function

Name Definition
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.

5 GO annotations of biological process

Name Definition
cytoskeleton-dependent intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell.
microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
N-terminal peptidyl-L-cysteine N-palmitoylation The covalent attachment of a palmitoyl group to a nitrogen (N) atom in an N-terminal cysteine residue to form N-palmitoyl-L-cysteine.
negative regulation of microtubule depolymerization Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol.
regulation of microtubule cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAWPCISRLC CLARRWNQLD RSDVAVPLTL HGYSDLDSEE PGTGGAASRR GQPPAGARDS
70 80 90 100 110 120
GRDVPLTQYQ RDFGLWTTPA GPKDPPPGRG PGAGGRRGKS SAQSSAPPAP GARGVYVLPI
130 140 150 160 170 180
GDADAAAAVT TSYRQEFQAW TGVKPSRSTK TKPARVITTH TSGWDSSPGA GFQVPEVRKK
190
FTPNPSAIFQ ASAPRILNV