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 Q9UHF5

Entry ID Method Resolution Chain Position Source
AF-Q9UHF5-F1 Predicted AlphaFoldDB

161 variants for Q9UHF5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs201298520
CA129032405
RCV000491934
176 C>Y Keratoconus 1 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA361688963
rs1368174581
2 D>H No ClinGen
TOPMed
gnomAD
CA361688937
rs1386970047
3 W>C No ClinGen
gnomAD
CA3502224
rs767430336
3 W>R No ClinGen
ExAC
gnomAD
CA3502223
rs759701657
4 P>S No ClinGen
ExAC
gnomAD
CA3502222
CA3502221
rs147405895
5 H>Q No ClinGen
ESP
ExAC
gnomAD
CA361688897
rs1581385684
6 N>T No ClinGen
Ensembl
rs773686284
CA3502219
7 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA3502218
rs549065715
7 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA361688874
rs549065715
7 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs549065715
CA129036221
7 L>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1338210953
CA361688285
8 L>V No ClinGen
TOPMed
gnomAD
CA361688267
rs1393291784
10 L>V No ClinGen
TOPMed
CA361688261
rs1235093489
11 L>F No ClinGen
TOPMed
CA361688242
rs1445926022
13 I>M No ClinGen
TOPMed
rs964763233
CA129034620
13 I>N No ClinGen
TOPMed
gnomAD
CA361688249
rs1327699939
13 I>V No ClinGen
TOPMed
TCGA novel 15 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA361688197
rs1318805759
18 G>W No ClinGen
TOPMed
rs1336732947
CA361688179
20 G>D No ClinGen
gnomAD
CA3502194
rs760361621
20 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA361688171
rs1335732972
21 Q>* No ClinGen
TOPMed
rs1236760770
CA361688157
22 P>H No ClinGen
TOPMed
rs774960128
CA3502193
22 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1457641169
CA361688134
24 S>N No ClinGen
TOPMed
rs745736629
CA3502190
27 S>N No ClinGen
ExAC
TOPMed
rs140393797
CA129034525
30 K>N No ClinGen
ESP
TOPMed
gnomAD
rs774358281
CA3502188
31 G>W No ClinGen
ExAC
gnomAD
CA3502186
rs147176226
CA3502187
33 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750526618
CA3502184
34 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs750526618
CA3502183
34 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM449085
CA3502185
rs777464695
34 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1247776980
CA361687953
35 P>L No ClinGen
gnomAD
CA361687962
rs1437210261
35 P>S No ClinGen
gnomAD
CA361687942
rs1461352404
36 G>A No ClinGen
TOPMed
rs750842286
CA3502180
37 P>R No ClinGen
ExAC
gnomAD
CA361687935
rs758559885
37 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs758559885
CA3502181
37 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1354712962
CA361687883
41 G>V No ClinGen
gnomAD
CA3502177
rs757523672
45 V>E No ClinGen
ExAC
gnomAD
rs1356282451
CA361687826
45 V>M No ClinGen
TOPMed
CA361687796
rs1022123571
47 L>P No ClinGen
gnomAD
rs1022123571
CA129034444
47 L>Q No ClinGen
gnomAD
CA361687743
rs1325508134
49 L>Q No ClinGen
gnomAD
CA3502174
rs760308405
51 S>* No ClinGen
ExAC
gnomAD
CA129034419
rs760308405
51 S>L No ClinGen
ExAC
gnomAD
rs147986476
CA3502172
52 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3502173
rs141618878
52 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3502171
rs759108806
55 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1457832520
CA361687562
57 A>D No ClinGen
gnomAD
rs566284760
CA3502168
58 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758090942
CA3502167
58 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758090942
CA129034384
58 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs769775703
CA3502166
59 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA129034358
rs1041078298
60 E>Q No ClinGen
TOPMed
CA361687488
rs1427644567
61 E>K No ClinGen
TOPMed
CA3502163
rs772233379
62 Y>* No ClinGen
ExAC
gnomAD
rs144370508
CA3502164
62 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA361687446
rs149642401
63 E>D No ClinGen
ESP
gnomAD
rs778900330
CA3502161
67 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1302823208
CA361687323
71 A>V No ClinGen
gnomAD
TCGA novel 73 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767580112
CA361687278
CA3502160
75 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs138372270
CA129034335
77 S>L No ClinGen
ESP
TOPMed
gnomAD
CA3502159
rs754362858
80 A>G No ClinGen
ExAC
gnomAD
CA361687229
rs1298211375
80 A>T No ClinGen
TOPMed
rs754362858
CA361687222
80 A>V No ClinGen
ExAC
gnomAD
rs547497109
CA3502158
81 Q>* No ClinGen
1000Genomes
ExAC
rs368429899
CA3502156
82 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1212418175
CA361687175
85 E>* No ClinGen
TOPMed
rs752296509
CA3502155
87 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1393920867
CA361687149
COSM1435086
87 N>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1246932825
CA361687088
92 M>R No ClinGen
gnomAD
CA361687064
rs1222698207
94 N>I No ClinGen
TOPMed
gnomAD
rs1222698207
CA361687066
94 N>S No ClinGen
TOPMed
gnomAD
CA361687052
rs1581383245
95 K>R No ClinGen
Ensembl
TCGA novel 97 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765861023
CA3502151
100 P>S No ClinGen
ExAC
gnomAD
CA3502150
rs762941357
101 W>L No ClinGen
ExAC
gnomAD
rs140684808
CA3502149
102 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749401276
CA3502119
104 S>R No ClinGen
ExAC
gnomAD
rs1581380850
CA361686324
106 N>T No ClinGen
Ensembl
rs1581380840
CA361686305
107 H>P No ClinGen
Ensembl
rs1408083911
CA361686260
108 D>A No ClinGen
Ensembl
CA3502117
rs770259524
108 D>N No ClinGen
ExAC
gnomAD
CA361686239
rs1428034105
109 P>S No ClinGen
gnomAD
CA361686209
rs1456560900
110 S>T No ClinGen
gnomAD
rs748708206
CA3502116
111 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373011468
CA3502115
COSM420839
111 R>H urinary_tract Variant assessed as Somatic; 4.669e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA361686173
rs1581380783
112 I>T No ClinGen
Ensembl
rs755299932
CA3502114
112 I>V No ClinGen
ExAC
gnomAD
rs746616674
CA3502113
113 P>L No ClinGen
ExAC
gnomAD
CA129032798
rs897120821
113 P>S No ClinGen
TOPMed
rs757888351
CA361686121
114 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA3502111
rs757888351
114 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1401949675
CA361686099
115 D>A No ClinGen
gnomAD
rs1401949675
CA361686097
115 D>G No ClinGen
gnomAD
rs749925422
CA3502110
115 D>N No ClinGen
ExAC
gnomAD
CA3502109
rs764889728
117 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA129032747
rs896724282
118 E>* No ClinGen
TOPMed
rs1433628359
CA361686002
119 A>P No ClinGen
TOPMed
rs774590961
CA3502104
120 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs140917979
CA3502105
120 R>W Variant assessed as Somatic; 0.0003246 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766478963
CA3502103
121 C>R No ClinGen
ExAC
rs1178036685
CA361685966
122 L>V No ClinGen
gnomAD
rs763211165
CA3502102
123 C>R No ClinGen
ExAC
gnomAD
CA3502101
rs371293844
123 C>Y No ClinGen
ESP
ExAC
gnomAD
rs1286144450
CA361685873
128 N>D No ClinGen
TOPMed
CA3502099
rs748585346
128 N>K No ClinGen
ExAC
TOPMed
rs1223584193
CA361685865
128 N>S No ClinGen
gnomAD
CA3502097
rs777015384
131 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs143579457
CA3502096
132 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA361685758
rs1237256981
132 M>T No ClinGen
gnomAD
COSM39189
rs377701351
CA3502095
136 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3502094
rs374213956
136 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA361685626
rs1175636470
137 S>C No ClinGen
TOPMed
rs1388205581
CA361685602
138 M>T No ClinGen
gnomAD
rs745574528
CA3502092
139 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA3502093
rs758105855
139 V>M No ClinGen
ExAC
gnomAD
rs778562390
CA3502091
140 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA3502089
rs753773022
141 V>G No ClinGen
ExAC
gnomAD
CA361685553
rs1438431060
141 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs367765361
CA3502088
142 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1321771243
CA361685516
143 V>A No ClinGen
TOPMed
gnomAD
CA3502086
rs752411869
143 V>L No ClinGen
ExAC
gnomAD
CA3502084
rs763153907
147 V>I No ClinGen
ExAC
gnomAD
CA3502083
rs773424096
150 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs765240048
CA3502082
150 R>H No ClinGen
ExAC
gnomAD
rs550871130
CA3502081
151 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202136839
CA3502080
151 R>H Variant assessed as Somatic; 9.615e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144395727
CA3502078
152 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144395727
CA3502079
152 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201386909
CA129032546
152 R>H No ClinGen
gnomAD
CA361685330
rs1289944604
153 L>P No ClinGen
TOPMed
CA3502076
rs532107768
155 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1015717341
CA129032533
156 P>L No ClinGen
TOPMed
CA3502072
rs149908263
157 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3502073
rs147582010
157 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752743282
CA3502069
159 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs138991563
CA3502067
159 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3502066
rs754779395
162 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1191306380
CA361685177
163 C>* No ClinGen
gnomAD
rs933815623
CA129032472
163 C>Y No ClinGen
Ensembl
rs562575563
CA3502065
164 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3502064
rs756453286
164 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs562575563
CA129032464
164 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA3502063
rs762063982
166 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1052840455
CA129032455
166 R>H No ClinGen
TOPMed
gnomAD
rs1052840455
CA361685135
166 R>P No ClinGen
TOPMed
gnomAD
rs528081511
CA3502061
167 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA361685083
rs1316986554
169 M>T No ClinGen
gnomAD
rs1343037955
CA361685089
169 M>V No ClinGen
TOPMed
rs1207553632
CA361685073
170 E>Q No ClinGen
TOPMed
CA3502059
rs761086057
173 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs776072998
CA3502058
174 V>G No ClinGen
ExAC
gnomAD
rs1342876430
CA361685031
174 V>L No ClinGen
gnomAD
rs1037161396
CA129032411
175 G>C No ClinGen
gnomAD
CA361685017
rs1037161396
175 G>R No ClinGen
gnomAD
rs1423263765
CA361684960
178 C>Y No ClinGen
gnomAD
CA3502055
rs774894146
179 I>V No ClinGen
ExAC
gnomAD
rs770682054
CA3502054
181 F>C No ClinGen
ExAC

No associated diseases with Q9UHF5

1 regional properties for Q9UHF5

Type Name Position InterPro Accession
conserved_site Short-chain dehydrogenase/reductase, conserved site 197 - 225 IPR020904

Functions

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

1 GO annotations of cellular component

Name Definition
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

1 GO annotations of molecular function

Name Definition
cytokine activity The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells.

4 GO annotations of biological process

Name Definition
cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
positive regulation of cytokine production involved in inflammatory response Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MDWPHNLLFL LTISIFLGLG QPRSPKSKRK GQGRPGPLAP GPHQVPLDLV SRMKPYARME
70 80 90 100 110 120
EYERNIEEMV AQLRNSSELA QRKCEVNLQL WMSNKRSLSP WGYSINHDPS RIPVDLPEAR
130 140 150 160 170
CLCLGCVNPF TMQEDRSMVS VPVFSQVPVR RRLCPPPPRT GPCRQRAVME TIAVGCTCIF