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 Q9UH62

Entry ID Method Resolution Chain Position Source
AF-Q9UH62-F1 Predicted AlphaFoldDB

169 variants for Q9UH62

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1257173965
CA414033613
4 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10474066
rs200151007
4 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1556038240
CA414033660
7 V>I No ClinGen
gnomAD
rs1486916934
CA414033693
9 W>R No ClinGen
TOPMed
CA414033760
rs1556038249
12 A>G No ClinGen
TOPMed
CA414033797
rs1214514335
15 V>M No ClinGen
TOPMed
rs1556038252
CA414033827
16 I>T No ClinGen
gnomAD
rs782282127
CA10474067
16 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs782394011
CA10474068
18 A>T No ClinGen
ExAC
gnomAD
CA10474069
rs782636138
18 A>V No ClinGen
ExAC
gnomAD
CA414033853
rs1230999634
20 A>S No ClinGen
TOPMed
TCGA novel 23 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10474071
rs782347784
26 R>K No ClinGen
ExAC
gnomAD
rs1354592095
CA414033911
28 T>S No ClinGen
TOPMed
TCGA novel 32 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1293632584
CA414033953
34 N>S No ClinGen
TOPMed
rs1416582945
CA414033969
36 E>A No ClinGen
TOPMed
rs1569370235
CA414033995
39 A>S No ClinGen
Ensembl
rs782644531
CA10474072
45 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138397719
CA10474073
46 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414034038
rs138397719
46 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10474075
rs782415759
49 A>G No ClinGen
ExAC
gnomAD
rs1453222109
CA414034080
52 C>R No ClinGen
TOPMed
rs868935240
CA414034081
52 C>S No ClinGen
TOPMed
CA333873607
rs868935240
52 C>Y No ClinGen
TOPMed
CA10474077
rs781998690
59 D>G No ClinGen
ExAC
gnomAD
TCGA novel 60 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414034158
rs1556038328
63 D>N No ClinGen
gnomAD
CA414034162
rs1189144991
63 D>V No ClinGen
TOPMed
gnomAD
TCGA novel 64 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414034174
rs1425900337
65 D>N No ClinGen
TOPMed
TCGA novel 66 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782110371
CA10474079
66 D>E No ClinGen
ExAC
CA10474080
rs782741127
67 S>G No ClinGen
ExAC
gnomAD
rs1603241641
CA414034197
68 N>D No ClinGen
Ensembl
TCGA novel 69 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333873609
rs112014657
70 S>G No ClinGen
Ensembl
rs781820213
CA10474081
73 I>T No ClinGen
ExAC
gnomAD
CA414034248
rs1556038354
75 W>R No ClinGen
gnomAD
CA414034272
rs1485910186
78 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 80 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10474083
rs782696028
80 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1211468081
CA414034290
81 R>W No ClinGen
TOPMed
CA414034298
rs1556038362
82 I>T No ClinGen
gnomAD
CA10474084
rs781909195
82 I>V No ClinGen
ExAC
gnomAD
TCGA novel 84 T>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414034316
rs1569370348
85 E>A No ClinGen
Ensembl
CA414034326
rs1333658285
86 A>V No ClinGen
TOPMed
rs782535499
CA10474085
88 T>A No ClinGen
ExAC
gnomAD
TCGA novel 91 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1556038374
CA414034371
93 R>S No ClinGen
gnomAD
CA333873611
rs1041715655
100 R>L No ClinGen
TOPMed
gnomAD
CA414034411
rs1041715655
100 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10474087
rs781854858
100 R>W No ClinGen
ExAC
gnomAD
rs1556038386
CA414034421
102 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA414034426
rs1234962087
103 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10474088
rs782490463
109 A>V No ClinGen
ExAC
gnomAD
TCGA novel 114 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333873612
rs903185505
117 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs375844900
CA10474091
120 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375844900
CA414034537
120 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1556038412
CA414034549
122 E>* No ClinGen
Ensembl
CA10474092
rs149266795
125 K>M No ClinGen
ESP
ExAC
gnomAD
CA414034571
rs149266795
125 K>T No ClinGen
ESP
ExAC
gnomAD
CA414034606
rs1556038418
130 V>A No ClinGen
gnomAD
CA10474093
rs782258566
132 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1556038433
CA414034668
139 L>V No ClinGen
gnomAD
TCGA novel 142 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1556038442
CA414034730
148 N>K No ClinGen
gnomAD
COSM1682775
rs781963129
CA10474095
151 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 152 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1459826307
CA414034795
157 D>E No ClinGen
TOPMed
rs868995472
CA414034812
160 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA333873613
rs1033127729
161 D>H No ClinGen
Ensembl
rs1371626978
CA414034820
161 D>V No ClinGen
TOPMed
gnomAD
rs1556038455
CA414034853
167 I>V No ClinGen
gnomAD
CA414034859
rs1170372682
168 V>I No ClinGen
TOPMed
gnomAD
CA414034892
rs1556038462
173 N>D No ClinGen
gnomAD
CA414034894
rs1556038462
173 N>H No ClinGen
gnomAD
rs1429574589
CA414034896
173 N>S No ClinGen
TOPMed
rs369113898
CA10474096
174 T>I No ClinGen
ESP
ExAC
gnomAD
rs1556038479
CA414034978
185 I>T No ClinGen
gnomAD
TCGA novel 188 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10474099
rs372051555
198 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA333873615
rs372051555
198 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1556038494
CA414035087
201 K>E No ClinGen
gnomAD
CA414035108
rs1556038511
204 M>L No ClinGen
gnomAD
CA414035126
rs1603241709
206 Q>E No ClinGen
Ensembl
TCGA novel 211 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 219 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414035274
rs1603241714
228 L>F No ClinGen
Ensembl
CA414035285
rs1556038529
229 T>I No ClinGen
gnomAD
rs1556038540
CA414035301
231 M>I No ClinGen
gnomAD
rs1556038544
CA414035311
233 V>I No ClinGen
gnomAD
CA414035318
rs1556038545
234 T>A No ClinGen
gnomAD
rs781828907
CA10474104
234 T>I No ClinGen
ExAC
gnomAD
CA10474105
rs782461535
237 Y>H No ClinGen
ExAC
gnomAD
CA10474106
rs782809877
239 H>L No ClinGen
ExAC
gnomAD
TCGA novel 239 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414035407
rs1250495596
242 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 243 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414035431
rs1556038563
243 N>S No ClinGen
gnomAD
rs868972628
CA414035448
244 S>F No ClinGen
Ensembl
CA10474107
rs781882226
245 I>V No ClinGen
ExAC
gnomAD
CA414035473
rs1556038573
246 S>C No ClinGen
TOPMed
CA333873616
rs997449630
246 S>P No ClinGen
gnomAD
CA10474108
rs782505708
247 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA414035531
rs1556038584
250 R>C No ClinGen
gnomAD
rs1556038592
CA414035541
250 R>L No ClinGen
gnomAD
rs376915704
CA414035559
251 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 251 L>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1301129701
CA414035597
254 A>T No ClinGen
TOPMed
rs782224564
CA10474110
254 A>V No ClinGen
ExAC
gnomAD
rs1556038598
CA414035629
256 N>T No ClinGen
gnomAD
CA414035676
rs1232255100
259 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 268 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782178210
CA10474114
268 L>S No ClinGen
ExAC
TOPMed
CA10474115
rs782423340
272 E>K No ClinGen
ExAC
CA10474117
rs782264611
275 A>V No ClinGen
ExAC
gnomAD
CA414036016
rs1394808823
282 R>G No ClinGen
TOPMed
rs955786842
CA333873617
283 A>T No ClinGen
Ensembl
CA333873618
rs200063096
283 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1556038640
CA414036073
285 V>A No ClinGen
gnomAD
CA10474120
rs369278711
286 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1556038652
CA414036105
288 S>P No ClinGen
gnomAD
rs1453342357
CA414036114
289 L>V No ClinGen
TOPMed
rs1200569279
CA414036219
296 K>E No ClinGen
TOPMed
rs1249343569
CA414036261
298 N>S No ClinGen
TOPMed
CA10474123
rs781925495
300 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10474124
rs782144980
301 V>F No ClinGen
ExAC
gnomAD
CA10474125
rs138110734
303 L>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 307 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781847660
CA10474126
307 V>I No ClinGen
ExAC
CA10474127
rs782091422
309 F>S No ClinGen
ExAC
rs868971969
CA414036442
311 N>D No ClinGen
Ensembl
rs1347256535
CA414036460
312 I>L No ClinGen
TOPMed
gnomAD
rs1304190214
CA414036466
312 I>T No ClinGen
TOPMed
gnomAD
TCGA novel 313 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782721194
CA10474128
315 N>H No ClinGen
ExAC
gnomAD
CA10474129
rs781802741
317 K>R No ClinGen
ExAC
gnomAD
CA414036575
rs1556038716
318 W>C No ClinGen
gnomAD
rs143586223
CA333873619
318 W>R No ClinGen
ESP
TOPMed
rs782428966
CA10474130
320 E>* No ClinGen
ExAC
gnomAD
TCGA novel 323 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10474131
rs199850913
324 T>I No ClinGen
ExAC
gnomAD
TCGA novel 325 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333873620
rs973119559
329 G>S No ClinGen
Ensembl
CA414036756
rs1556038734
330 E>Q No ClinGen
gnomAD
rs1556038737
CA414036774
331 G>S No ClinGen
gnomAD
rs1556038740
CA414036784
331 G>V No ClinGen
gnomAD
CA10474133
rs782522314
333 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA10474136
rs782239191
335 F>L No ClinGen
ExAC
gnomAD
rs115179885
CA10474134
335 F>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10474137
rs782582627
337 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA414036959
rs1434581838
342 V>G No ClinGen
TOPMed
CA10474139
rs782629163
354 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA333873621
rs937177302
354 H>Y No ClinGen
Ensembl
TCGA novel 357 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781999648
CA10474141
358 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA414037318
rs1182075910
366 M>K No ClinGen
TOPMed
CA414037315
rs1569370721
366 M>L No ClinGen
Ensembl
CA414037341
rs1473452588
367 A>V No ClinGen
TOPMed
CA414037367
rs1255062436
369 L>P No ClinGen
TOPMed
gnomAD
CA414037369
rs1255062436
369 L>R No ClinGen
TOPMed
gnomAD
CA10474146
rs782704817
373 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA333873622
rs200712003
373 M>K No ClinGen
Ensembl
CA414037440
rs1041663254
374 F>I No ClinGen
TOPMed
CA333873623
rs1041663254
374 F>L No ClinGen
TOPMed
rs1229173568
CA414037507
378 Q>R No ClinGen
TOPMed

No associated diseases with Q9UH62

1 regional properties for Q9UH62

Type Name Position InterPro Accession
domain Signal transduction response regulator, receiver domain 28 - 146 IPR001789

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion outer membrane ; Single-pass membrane protein
  • Cytoplasm
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
axon cytoplasm Any cytoplasm that is part of a axon.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
integral component of mitochondrial outer membrane The component of the mitochondrial outer membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name Definition
axonal transport of mitochondrion The directed movement of mitochondria along microtubules in nerve cell axons.
mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein localization Any process in which a protein is transported to, or maintained in, a specific location.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6P1M9 ARMCX5 Armadillo repeat-containing X-linked protein 5 Homo sapiens (Human) PR
Q3UZB0 Armcx5 Armadillo repeat-containing X-linked protein 5 Mus musculus (Mouse) PR
Q5U4C1 Gprasp1 G-protein coupled receptor-associated sorting protein 1 Mus musculus (Mouse) PR
Q8BUY8 Gprasp2 G-protein coupled receptor-associated sorting protein 2 Mus musculus (Mouse) PR
10 20 30 40 50 60
MGYARKVGWV TAGLVIGAGA CYCIYRLTRG RKQNKEKMAE GGSGDVDDAG DCSGARYNDW
70 80 90 100 110 120
SDDDDDSNES KSIVWYPPWA RIGTEAGTRA RARARARATR ARRAVQKRAS PNSDDTVLSP
130 140 150 160 170 180
QELQKVLCLV EMSEKPYILE AALIALGNNA AYAFNRDIIR DLGGLPIVAK ILNTRDPIVK
190 200 210 220 230 240
EKALIVLNNL SVNAENQRRL KVYMNQVCDD TITSRLNSSV QLAGLRLLTN MTVTNEYQHM
250 260 270 280 290 300
LANSISDFFR LFSAGNEETK LQVLKLLLNL AENPAMTREL LRAQVPSSLG SLFNKKENKE
310 320 330 340 350 360
VILKLLVIFE NINDNFKWEE NEPTQNQFGE GSLFFFLKEF QVCADKVLGI ESHHDFLVKV
370
KVGKFMAKLA EHMFPKSQE