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 Q9H8T0

Entry ID Method Resolution Chain Position Source
AF-Q9H8T0-F1 Predicted AlphaFoldDB

178 variants for Q9H8T0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA395922361
rs1364147270
8 S>F No ClinGen
gnomAD
CA395922322
rs1364897796
12 V>G No ClinGen
gnomAD
CA8057095
COSM1378340
rs779924211
13 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8057094
rs769566710
13 R>H No ClinGen
ExAC
gnomAD
rs1371166754
CA395922308
14 K>R No ClinGen
gnomAD
rs764155782
CA8057078
15 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1429434344
CA395922192
16 S>F No ClinGen
gnomAD
CA8057076
rs775441301
20 E>D No ClinGen
ExAC
gnomAD
rs919044600
CA281365467
20 E>K No ClinGen
Ensembl
CA395922162
rs1250209537
21 K>E No ClinGen
TOPMed
gnomAD
rs61734118
CA8057075
21 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA395922151
rs1481856382
22 T>I No ClinGen
gnomAD
CA281365457
rs973534183
25 G>R No ClinGen
Ensembl
CA395922123
rs776539900
27 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8057072
rs776539900
27 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1225219264
CA395922100
30 S>I No ClinGen
gnomAD
rs770900884
CA8057071
31 P>L No ClinGen
ExAC
gnomAD
rs1428326756
CA395922090
32 P>S No ClinGen
TOPMed
rs141560947
CA8057070
33 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM971479
CA8057069
rs141560947
33 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747621138
CA8057067
37 K>E No ClinGen
ExAC
gnomAD
rs780558074
CA8057066
37 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs756609255
CA8057065
42 S>Y No ClinGen
ExAC
gnomAD
rs986386188
CA281365403
43 I>T No ClinGen
Ensembl
TCGA novel 46 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8057063
rs767844319
50 I>V No ClinGen
ExAC
gnomAD
rs199669647
CA281365360
COSM3932365
51 T>A urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
rs751715236
CA8057061
53 P>L No ClinGen
ExAC
gnomAD
rs533946422
CA8057062
53 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs764315195
CA8057060
54 T>K No ClinGen
ExAC
gnomAD
rs199548307
CA281365344
55 S>C No ClinGen
1000Genomes
TOPMed
gnomAD
CA395921951
rs1437597313
55 S>P No ClinGen
TOPMed
rs775464421
CA8057058
56 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8057056
rs759373692
58 P>S No ClinGen
ExAC
gnomAD
CA8057055
rs759373692
58 P>T No ClinGen
ExAC
gnomAD
CA8057053
rs770843306
60 A>V No ClinGen
ExAC
gnomAD
rs908389472
CA281365313
62 S>A No ClinGen
TOPMed
gnomAD
rs1046908213
CA281365299
62 S>L No ClinGen
TOPMed
CA281365290
rs1021665141
63 T>A No ClinGen
TOPMed
rs1021665141
CA281365289
63 T>S No ClinGen
TOPMed
rs746802147
CA8057052
64 N>D No ClinGen
ExAC
gnomAD
rs771641760
CA8057050
66 T>M No ClinGen
ExAC
gnomAD
CA8057048
rs778254783
68 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs746359591
CA8057046
72 P>L No ClinGen
ExAC
gnomAD
CA395921850
rs746359591
72 P>R No ClinGen
ExAC
gnomAD
TCGA novel 77 Y>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 80 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 81 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs980836688
CA281361831
86 V>I No ClinGen
TOPMed
rs969422442
CA281361822
87 V>L No ClinGen
TOPMed
TCGA novel 88 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA281361787
rs912559809
88 K>Q No ClinGen
gnomAD
CA8057022
rs777982018
94 V>I No ClinGen
ExAC
gnomAD
rs1314598157
CA395921151
95 Y>C No ClinGen
gnomAD
CA8057020
rs752861266
97 Q>P No ClinGen
ExAC
gnomAD
rs779196597
CA281361742
100 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs755048837
CA8057018
101 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8057017
COSM3818093
rs753984711
101 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs755048837
CA395921096
101 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 102 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395921034
rs1200188293
105 M>T No ClinGen
gnomAD
CA281361654
rs753201275
108 G>A No ClinGen
TOPMed
gnomAD
CA395920995
rs1473245954
109 V>L No ClinGen
gnomAD
CA395920982
rs1156378312
110 I>T No ClinGen
TOPMed
CA281361652
rs1032844543
113 R>Q No ClinGen
Ensembl
rs769347114
CA8057006
113 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA395920926
rs1191455290
116 L>F No ClinGen
TOPMed
gnomAD
CA8057005
rs747506016
119 D>N No ClinGen
ExAC
gnomAD
COSM971478
CA8057003
rs373752479
121 V>I Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 128 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8057000
rs755278060
130 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA395920750
rs1405384807
133 P>A No ClinGen
gnomAD
rs1177246282
CA395920725
135 G>C No ClinGen
gnomAD
CA8056999
rs370289246
137 C>G No ClinGen
ESP
ExAC
gnomAD
rs1427164346
CA395920699
137 C>Y No ClinGen
gnomAD
rs781311887
COSM971477
CA8056952
139 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8056951
rs757341232
139 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA395920082
rs1158115486
140 L>W No ClinGen
TOPMed
rs953034676
CA281360946
141 V>L No ClinGen
TOPMed
rs1394013364
CA395920056
143 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs758135917
CA8056948
144 I>S No ClinGen
ExAC
gnomAD
rs1300948018
CA395920036
146 V>I No ClinGen
TOPMed
CA8056947
rs752514939
148 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA281360927
rs995013998
149 P>A No ClinGen
TOPMed
CA8056946
rs778493299
149 P>L No ClinGen
ExAC
gnomAD
rs754625474
CA8056945
154 T>A No ClinGen
ExAC
gnomAD
TCGA novel 156 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567757016
CA395919889
158 L>M No ClinGen
Ensembl
rs765897827
CA8056943
160 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 162 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1347930660
CA395919832
162 R>T No ClinGen
TOPMed
rs760168557
CA8056942
165 A>T No ClinGen
ExAC
gnomAD
CA281360715
rs1044968841
169 R>Q No ClinGen
TOPMed
CA395919708
rs1478076012
174 I>T No ClinGen
TOPMed
gnomAD
CA281360693
rs61731846
175 W>* No ClinGen
Ensembl
CA281360697
rs61731847
175 W>L No ClinGen
Ensembl
rs995190946
CA281360685
176 Q>* No ClinGen
Ensembl
CA8056920
rs753316244
177 V>I No ClinGen
ExAC
gnomAD
rs963725014
CA281360672
178 L>I No ClinGen
TOPMed
CA395919680
rs1244858630
179 M>V No ClinGen
TOPMed
gnomAD
rs759826964
CA8056918
183 R>G No ClinGen
ExAC
gnomAD
TCGA novel 185 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776857155
CA8056917
189 D>H No ClinGen
ExAC
gnomAD
rs771085637
CA8056916
190 T>R No ClinGen
ExAC
gnomAD
rs150593359
CA281360609
191 A>T No ClinGen
ESP
TOPMed
rs1259542641
CA395919585
192 S>N No ClinGen
TOPMed
CA395919580
rs1340502168
193 P>S No ClinGen
TOPMed
rs773241653
CA8056915
194 L>P No ClinGen
ExAC
gnomAD
rs773241653
CA8056914
194 L>R No ClinGen
ExAC
gnomAD
rs772184838
CA8056913
196 P>A No ClinGen
ExAC
gnomAD
CA281360562
rs1012088845
196 P>L No ClinGen
TOPMed
rs748061956
CA8056912
198 A>T No ClinGen
ExAC
gnomAD
CA8056911
rs778887599
200 V>G No ClinGen
ExAC
gnomAD
TCGA novel 204 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395919489
rs1313357996
205 D>E No ClinGen
TOPMed
TCGA novel 205 D>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1354301019
CA395919484
206 I>T No ClinGen
TOPMed
rs1260668126
CA395919488
206 I>V No ClinGen
Ensembl
CA8056894
rs760860184
210 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA395919432
rs1194237105
213 V>A No ClinGen
gnomAD
TCGA novel 213 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395919435
rs1279710988
213 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA281360360
rs767578006
214 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs767578006
CA8056892
214 V>D No ClinGen
ExAC
TOPMed
gnomAD
CA8056893
rs773479084
214 V>I No ClinGen
ExAC
gnomAD
rs761884339
CA8056891
216 S>G No ClinGen
ExAC
gnomAD
rs1193762457
CA395919395
219 V>A No ClinGen
gnomAD
rs911361305
CA281360351
219 V>L No ClinGen
TOPMed
gnomAD
rs911361305
CA395919397
219 V>M No ClinGen
TOPMed
gnomAD
rs151134332
CA281360343
221 T>A No ClinGen
1000Genomes
CA8056890
rs774284749
223 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8056889
rs528168629
COSM1378338
223 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395919372
rs528168629
223 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs749069548
CA8056888
224 L>S No ClinGen
ExAC
gnomAD
rs1437625343
CA395919360
225 F>S No ClinGen
gnomAD
rs1347301445 225 F>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA281360319
rs559351790
227 Q>E No ClinGen
Ensembl
CA395919341
rs1598150377
228 P>S No ClinGen
Ensembl
CA8056886
rs769769588
229 K>T No ClinGen
ExAC
rs780998485
CA395919302
233 P>H No ClinGen
ExAC
gnomAD
CA8056884
rs780998485
233 P>L No ClinGen
ExAC
gnomAD
rs748916763
CA281360288
234 Y>C No ClinGen
Ensembl
CA8056881
RCV000900067
rs118126947
235 A>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA395919287
rs1427104315
236 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 237 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8056859
rs374819167
240 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395918589
rs1216332913
243 P>A No ClinGen
gnomAD
CA8056856
rs767877058
246 H>P No ClinGen
ExAC
gnomAD
rs750806890
CA8056855
247 D>H No ClinGen
ExAC
gnomAD
TCGA novel 251 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395918480
rs1284857214
251 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 252 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395918453
rs1448593027
254 L>M No ClinGen
TOPMed
gnomAD
CA395918439
rs1390158105
255 T>I No ClinGen
TOPMed
rs760290777 258 K>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs551631734
CA8056832
258 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1327909463
CA395918313
261 E>K No ClinGen
TOPMed
TCGA novel 261 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770316581
CA8056830
262 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA8056829
rs770316581
262 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs746414525
CA8056828
263 H>Y No ClinGen
ExAC
gnomAD
CA8056827
rs143575360
265 K>E No ClinGen
ESP
ExAC
TOPMed
rs1208224739
CA395918236
266 S>N No ClinGen
gnomAD
CA8056826
rs757708234
267 V>G No ClinGen
ExAC
gnomAD
rs751667313
CA8056825
268 H>Y No ClinGen
ExAC
rs758363858
CA8056823
270 A>T No ClinGen
ExAC
CA395918182
rs1488397374
271 G>S No ClinGen
gnomAD
CA395918159
rs1598146921
273 S>* No ClinGen
Ensembl
rs201981579
CA8056821
276 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8056818
rs145847118
280 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1280086197
CA395918082
281 Q>E No ClinGen
gnomAD
rs1384861610
CA395918073
281 Q>H No ClinGen
gnomAD
rs568156696
CA8056816
289 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA281358661
rs1034577709
289 T>K No ClinGen
Ensembl
CA8056815
rs772679190
290 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs772679190
CA395917965
290 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs771776966
CA8056814
COSM3421035
291 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1426404310
CA395917930
293 T>K No ClinGen
gnomAD

No associated diseases with Q9H8T0

1 regional properties for Q9H8T0

Type Name Position InterPro Accession
domain Ubiquitin-conjugating enzyme E2 74 - 222 IPR000608

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cell membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
FHF complex A protein complex that is composed of AKTIP/FTS, FAM160A2/p107FHIP, and one or more members of the Hook family of proteins, HOOK1, HOOK2, and HOOK3. The complex is thought to promote vesicle trafficking and/or fusion, and associates with the homotypic vesicular sorting complex (the HOPS complex).
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
ubiquitin conjugating enzyme activity Isoenergetic transfer of ubiquitin from one protein to another via the reaction X-ubiquitin + Y -> Y-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue.

10 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
early endosome to late endosome transport The directed movement of substances, in membrane-bounded vesicles, from the early sorting endosomes to the late sorting endosomes; transport occurs along microtubules and can be experimentally blocked with microtubule-depolymerizing drugs.
endosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of endosomes.
endosome to lysosome transport The directed movement of substances from endosomes to lysosomes.
lysosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases.
positive regulation of protein binding Any process that activates or increases the frequency, rate or extent of protein binding.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
protein localization to perinuclear region of cytoplasm A process in which a protein is transported to, or maintained in, a location within the perinuclear region of the cytoplasm.
protein polyubiquitination Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

18 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5ZJJ5 AKTIP AKT-interacting protein Gallus gallus (Chicken) PR
Q7K4V4 CG46338 Protein crossbronx Drosophila melanogaster (Fruit fly) PR
P25867 eff Ubiquitin-conjugating enzyme E2-17 kDa Drosophila melanogaster (Fruit fly) PR
Q9Y385 UBE2J1 Ubiquitin-conjugating enzyme E2 J1 Homo sapiens (Human) PR
P61086 UBE2K Ubiquitin-conjugating enzyme E2 K Homo sapiens (Human) PR
Q9NPD8 UBE2T Ubiquitin-conjugating enzyme E2 T Homo sapiens (Human) PR
O00762 UBE2C Ubiquitin-conjugating enzyme E2 C Homo sapiens (Human) PR
O14933 UBE2L6 Ubiquitin/ISG15-conjugating enzyme E2 L6 Homo sapiens (Human) PR
Q96LR5 UBE2E2 Ubiquitin-conjugating enzyme E2 E2 Homo sapiens (Human) PR
Q969T4 UBE2E3 Ubiquitin-conjugating enzyme E2 E3 Homo sapiens (Human) PR
Q7Z7E8 UBE2Q1 Ubiquitin-conjugating enzyme E2 Q1 Homo sapiens (Human) PR
A1L167 UBE2QL1 Ubiquitin-conjugating enzyme E2Q-like protein 1 Homo sapiens (Human) PR
Q16763 UBE2S Ubiquitin-conjugating enzyme E2 S Homo sapiens (Human) EV
Q64362 Aktip AKT-interacting protein Mus musculus (Mouse) PR
Q5FVH4 Aktip AKT-interacting protein Rattus norvegicus (Rat) PR
P35129 let-70 Ubiquitin-conjugating enzyme E2 2 Caenorhabditis elegans PR
Q9SLE4 UBC29 Ubiquitin-conjugating enzyme E2 29 Arabidopsis thaliana (Mouse-ear cress) PR
Q9C8X7 UBC31 Probable ubiquitin-conjugating enzyme E2 31 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MNPFWSMSTS SVRKRSEGEE KTLTGDVKTS PPRTAPKKQL PSIPKNALPI TKPTSPAPAA
70 80 90 100 110 120
QSTNGTHASY GPFYLEYSLL AEFTLVVKQK LPGVYVQPSY RSALMWFGVI FIRHGLYQDG
130 140 150 160 170 180
VFKFTVYIPD NYPDGDCPRL VFDIPVFHPL VDPTSGELDV KRAFAKWRRN HNHIWQVLMY
190 200 210 220 230 240
ARRVFYKIDT ASPLNPEAAV LYEKDIQLFK SKVVDSVKVC TARLFDQPKI EDPYAISFSP
250 260 270 280 290
WNPSVHDEAR EKMLTQKKPE EQHNKSVHVA GLSWVKPGSV QPFSKEEKTV AT