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

12 structures for Q9Y478

Entry ID Method Resolution Chain Position Source
4CFE X-ray 302 A B/D 1-270 PDB
4CFF X-ray 392 A B/D 1-270 PDB
4ZHX X-ray 299 A B/D 1-270 PDB
5EZV X-ray 299 A B/D 1-270 PDB
5ISO X-ray 263 A B/D 1-270 PDB
6B1U X-ray 277 A B/D 1-270 PDB
6C9F X-ray 292 A B 68-270 PDB
6C9G X-ray 270 A B 67-270 PDB
6C9H X-ray 265 A B 68-270 PDB
6C9J X-ray 305 A B 68-270 PDB
7MYJ X-ray 295 A B/D 1-270 PDB
AF-Q9Y478-F1 Predicted AlphaFoldDB

184 variants for Q9Y478

Variant ID(s) Position Change Description Diseaes Association Provenance
rs761521273
CA6820320
2 G>D No ClinGen
ExAC
gnomAD
CA6820323
rs758106654
8 R>H No ClinGen
ExAC
gnomAD
CA386533222
rs1413108299
9 A>T No ClinGen
TOPMed
CA244358548
rs375442599
10 A>T No ClinGen
ESP
TOPMed
gnomAD
CA386533239
rs1296222598
11 L>P No ClinGen
gnomAD
CA6820328
rs749595403
11 L>V No ClinGen
ExAC
gnomAD
rs1460006507
CA386533248
12 E>D No ClinGen
TOPMed
gnomAD
rs779157494
COSM1578177
CA6820330
13 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1221817266
CA386533258
14 H>R No ClinGen
TOPMed
rs1248282313
CA386533256
14 H>Y No ClinGen
TOPMed
CA6820331
rs746047315
15 G>R No ClinGen
ExAC
gnomAD
rs772385438
CA6820333
17 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs772385438
CA6820332
17 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1043354
CA244358653
20 P>A No ClinGen
gnomAD
rs1259291845
CA386533318
20 P>H No ClinGen
gnomAD
CA386533311
rs1043354
20 P>S No ClinGen
gnomAD
rs61756440
CA6820335
22 R>K No ClinGen
ExAC
gnomAD
CA6820336
rs78433950
25 S>P No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs776725274
CA6820340
26 G>R No ClinGen
ExAC
gnomAD
CA6820343
rs61748075
27 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6820341
rs761626973
27 G>S No ClinGen
ExAC
gnomAD
CA6820342
rs61748075
27 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765766033 28 T>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA386533442
rs1397133422
28 T>I No ClinGen
TOPMed
gnomAD
CA244358765
rs913104801
30 D>G No ClinGen
TOPMed
rs1452797908
CA386533465
30 D>N No ClinGen
gnomAD
CA386533508
rs1295679130
31 G>E No ClinGen
TOPMed
CA6820345
rs766087073
31 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs373680495
CA6820346
32 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs568284871
CA6820348
35 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1305152539
CA386533598
35 K>M No ClinGen
gnomAD
TCGA novel 35 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316621420
CA386533621
36 I>T No ClinGen
TOPMed
gnomAD
rs1489993872
CA386533654
37 L>R No ClinGen
gnomAD
CA6820352
rs371815177
38 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1458877382
CA386533677
38 M>R No ClinGen
TOPMed
rs757824708
CA6820351
38 M>V No ClinGen
ExAC
gnomAD
CA386533712
rs1158296874
39 D>G No ClinGen
TOPMed
rs772422545
COSM3687986
CA6820354
41 P>S large_intestine Variant assessed as Somatic; 9.274e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 42 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1422624494
CA386533934
46 L>P No ClinGen
gnomAD
rs768882714
CA6820357
48 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1593328452
CA386534017
49 S>P No ClinGen
Ensembl
CA6820383
rs1139637
56 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386536194
rs1139637
56 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1320928464
CA386536230
57 K>E No ClinGen
gnomAD
CA6820384
rs377700666
57 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774859004
CA6820386
59 E>K No ClinGen
ExAC
gnomAD
TCGA novel 60 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6820387
rs760241080
63 W>G No ClinGen
ExAC
gnomAD
CA244362708
rs946688613
64 Q>K No ClinGen
TOPMed
gnomAD
CA244362713
rs1042433129
64 Q>R No ClinGen
TOPMed
gnomAD
rs1484910309
CA386536466
65 H>R No ClinGen
TOPMed
CA244362714
rs902211689
68 E>K No ClinGen
TOPMed
rs1195908214
CA386536529
69 V>L No ClinGen
gnomAD
CA386536557
rs1427338706
71 D>H No ClinGen
gnomAD
CA6820388
rs80330613
75 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774770783
CA6820389
77 A>V No ClinGen
ExAC
gnomAD
rs371073735
CA6820391
78 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6820390
rs758798418
78 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA386536707
rs1277129635
80 T>A No ClinGen
TOPMed
rs755243236
CA6820393
80 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs941647796
CA244362824
82 F>S No ClinGen
Ensembl
rs1299449930
CA386536746
83 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6820395
rs201397246
83 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386536768
rs1302934070
84 W>* No ClinGen
TOPMed
CA6820396
rs756238637
85 T>M No ClinGen
ExAC
TOPMed
CA386536787
CA6820399
rs770905581
86 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 87 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6820401
rs745730456
87 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA244362884
rs745730456
87 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 88 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
CA6820403
rs375579154
COSM430474
88 G>R Variant assessed as Somatic; 0.0 impact. breast Variant assessed as Somatic; impact. [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs557732890
CA6820404
89 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA6820405
rs768247950
89 K>R No ClinGen
ExAC
gnomAD
rs776051030
CA6820406
92 Y>C No ClinGen
ExAC
gnomAD
rs199606165
CA386536882
94 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1565875622
CA386536878
94 S>T No ClinGen
Ensembl
rs199606165
CA6820407
94 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767055560
CA6820408
100 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA386536994
rs1468852044
102 K>I No ClinGen
gnomAD
rs751902416
CA6820409
104 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA386537018
rs1444126229
104 P>T No ClinGen
TOPMed
CA6820410
rs759992306
105 L>F No ClinGen
ExAC
gnomAD
CA386537870
rs1377282629
109 H>R No ClinGen
gnomAD
rs1372064326
CA386537987
112 F>L No ClinGen
gnomAD
rs767890601
CA6820432
113 V>L No ClinGen
ExAC
gnomAD
CA386538031
rs1245467754
114 A>G No ClinGen
gnomAD
CA6820436
rs764289933
117 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA6820434
rs760939482
117 D>V No ClinGen
ExAC
gnomAD
TCGA novel 118 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6820437
rs757346466
119 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1459304732
CA386538214
119 P>S No ClinGen
gnomAD
CA6820439
rs750394660
120 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758310763
CA6820440
122 E>K No ClinGen
ExAC
gnomAD
rs758310763
CA386538306
122 E>Q No ClinGen
ExAC
gnomAD
CA386538351
rs1474143796
123 H>Q No ClinGen
gnomAD
CA6820442
rs202243548
126 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 127 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6820443
rs74516777
128 F>S No ClinGen
1000Genomes
ExAC
gnomAD
rs781002487
CA6820444
134 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA244364404
rs11546695
135 H>L No ClinGen
Ensembl
CA386538710
rs1401257819
135 H>Y No ClinGen
TOPMed
gnomAD
rs373505242
CA6820447
136 D>N No ClinGen
ExAC
gnomAD
CA244364414
rs193278535
137 P>L No ClinGen
1000Genomes
gnomAD
CA6820450
rs368579544
139 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6820464
rs200872060
141 I>M No ClinGen
ExAC
gnomAD
rs755879464
CA6820465
144 S>C No ClinGen
ExAC
gnomAD
CA386539033
rs755879464
144 S>G No ClinGen
ExAC
gnomAD
rs932755946
CA244364612
148 T>R No ClinGen
TOPMed
rs777409087
CA6820466
149 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs777409087
CA386539135
149 V>D No ClinGen
ExAC
TOPMed
gnomAD
CA386539163
rs1353581988
150 N>T No ClinGen
gnomAD
rs894074129
CA244364632
151 N>H No ClinGen
Ensembl
rs748816878
CA6820468
152 I>M No ClinGen
ExAC
gnomAD
rs772565745
CA6820469
153 I>F No ClinGen
ExAC
gnomAD
rs775877182
CA6820470
155 V>M No ClinGen
ExAC
gnomAD
rs1021577649
CA244364640
157 K>T No ClinGen
Ensembl
CA6820471
rs747352974
161 E>Q No ClinGen
ExAC
gnomAD
rs970785786
CA244364657
162 V>E No ClinGen
Ensembl
rs769042774
CA6820472
164 D>E No ClinGen
ExAC
gnomAD
CA386539508
rs1390477889
167 M>V No ClinGen
TOPMed
CA6820473
rs139810340
168 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs867491740
CA244364669
170 S>F No ClinGen
Ensembl
CA386539642
rs1177928762
173 C>S No ClinGen
TOPMed
gnomAD
CA6820474
COSM174615
rs762004648
175 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs773272756
CA6820476
176 V>L No ClinGen
ExAC
gnomAD
rs762954063
CA6820477
177 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs762954063
CA386539782
177 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA386539790
rs1293078878
178 E>Q No ClinGen
gnomAD
TCGA novel 181 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773326833
CA6820496
182 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1199018613
CA386541076
184 P>L No ClinGen
gnomAD
CA386541103
rs1466090595
185 G>E No ClinGen
TOPMed
rs1471748180
CA386541294
191 P>T No ClinGen
gnomAD
CA6820499
COSM935751
rs746242433
193 V>I endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA244366736
rs111872676
195 K>R No ClinGen
Ensembl
CA6820501
rs368860400
197 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1346259116
CA386541535
198 E>Q No ClinGen
TOPMed
CA6820502
rs752474474
199 R>C Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143112563
CA6820503
199 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386541606
rs1298865227
200 F>L No ClinGen
TOPMed
rs1303940089
CA386541634
201 R>Q No ClinGen
TOPMed
gnomAD
COSM935752
CA6820506
rs756977389
201 R>W Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA6820507
rs778268813
205 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs749996019
CA386541844
208 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs749996019
CA6820508
208 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749996019
CA244366797
208 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs781670874
CA6820510
213 V>I No ClinGen
ExAC
gnomAD
rs1259699799
CA386541996
214 I>V No ClinGen
gnomAD
CA386542098
rs1451040977
217 K>E No ClinGen
TOPMed
CA6820512
rs770171767
218 D>N No ClinGen
ExAC
gnomAD
rs373173905
CA6820513
219 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749447280
CA6820514
221 I>T No ClinGen
ExAC
gnomAD
CA6820547
rs756574271
223 C>R No ClinGen
ExAC
gnomAD
rs764667443
CA6820548
226 A>T No ClinGen
ExAC
gnomAD
rs779238721
CA6820551
234 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA6820553
rs758745155
237 N>D No ClinGen
ExAC
gnomAD
CA244370186
rs758745155
237 N>Y No ClinGen
ExAC
gnomAD
rs568377821
CA6820558
241 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA6820556
rs768414478
241 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs568377821
COSM935754
CA6820557
241 A>V large_intestine endometrium Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6820562
rs773037341
243 S>C No ClinGen
ExAC
gnomAD
CA386544306
rs1409527311
249 M>T No ClinGen
gnomAD
rs1330379731
CA386544341
251 L>V No ClinGen
gnomAD
CA6820577
rs781167231
253 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6820578
rs748094351
254 T>A No ClinGen
ExAC
gnomAD
CA386544404
rs1319163692
256 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA244370452
rs901746495
259 K>R No ClinGen
TOPMed
gnomAD
CA386544458
rs1313399814
260 K>E No ClinGen
gnomAD
rs770259028 260 K>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA386544467
rs1593333710
261 Y>H No ClinGen
Ensembl
rs1218272618
CA386544490
262 V>F No ClinGen
TOPMed
gnomAD
rs1218272618
CA386544486
262 V>I No ClinGen
TOPMed
gnomAD
CA386544500
rs539558322
263 T>A No ClinGen
ExAC
gnomAD
rs539558322
CA6820582
263 T>P No ClinGen
ExAC
gnomAD
TCGA novel 264 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386544578
rs1447633858
267 Y>* No ClinGen
TOPMed
rs997448515
CA244370504
267 Y>F No ClinGen
TOPMed
CA6820584
rs774014433
267 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs758929575
CA6820585
269 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs771581050
CA6820586
270 I>M No ClinGen
ExAC
gnomAD
CA244370538
rs199990839
270 I>T No ClinGen
1000Genomes
gnomAD
CA244370530
rs375188670
270 I>V No ClinGen
ESP
TOPMed

No associated diseases with Q9Y478

2 regional properties for Q9Y478

Type Name Position InterPro Accession
domain Association with the SNF1 complex (ASC) domain 180 - 270 IPR006828
domain AMP-activated protein kinase, glycogen-binding domain 79 - 160 IPR032640

Functions

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

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleotide-activated protein kinase complex A protein complex that possesses nucleotide-dependent protein kinase activity. The nucleotide can be AMP (in S. pombe and human) or ADP (in S. cerevisiae).
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.

2 GO annotations of molecular function

Name Definition
protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

8 GO annotations of biological process

Name Definition
cellular response to nutrient levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.
fatty acid biosynthetic process The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes.
nail development The process whose specific outcome is the progression of a nail over time, from its formation to the mature structure. A nail is a horn-like envelope covering the outer end of a finger or toe, and consists of the nail plate, the nail matrix and the nail bed below it, and the grooves surrounding it. [GOC:bf, ISBN:0323025781, UBERON:0001705, Wikipedia:Nail_(anatomy)]
positive regulation of cold-induced thermogenesis Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of catalytic activity Any process that modulates the activity of an enzyme.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5BIS9 PRKAB1 5'-AMP-activated protein kinase subunit beta-1 Bos taurus (Bovine) PR
O43741 PRKAB2 5'-AMP-activated protein kinase subunit beta-2 Homo sapiens (Human) PR
Q6PAM0 Prkab2 5'-AMP-activated protein kinase subunit beta-2 Mus musculus (Mouse) PR
Q9R078 Prkab1 5'-AMP-activated protein kinase subunit beta-1 Mus musculus (Mouse) PR
Q9QZH4 Prkab2 5'-AMP-activated protein kinase subunit beta-2 Rattus norvegicus (Rat) PR
P80386 Prkab1 5'-AMP-activated protein kinase subunit beta-1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MGNTSSERAA LERHGGHKTP RRDSSGGTKD GDRPKILMDS PEDADLFHSE EIKAPEKEEF
70 80 90 100 110 120
LAWQHDLEVN DKAPAQARPT VFRWTGGGKE VYLSGSFNNW SKLPLTRSHN NFVAILDLPE
130 140 150 160 170 180
GEHQYKFFVD GQWTHDPSEP IVTSQLGTVN NIIQVKKTDF EVFDALMVDS QKCSDVSELS
190 200 210 220 230 240
SSPPGPYHQE PYVCKPEERF RAPPILPPHL LQVILNKDTG ISCDPALLPE PNHVMLNHLY
250 260
ALSIKDGVMV LSATHRYKKK YVTTLLYKPI