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 A1A4Y4

Entry ID Method Resolution Chain Position Source
AF-A1A4Y4-F1 Predicted AlphaFoldDB

170 variants for A1A4Y4

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1322402828
CA361784797
2 E>* No ClinGen
gnomAD
CA361784795
rs1322402828
2 E>K No ClinGen
gnomAD
rs763474099
CA129176681
3 A>T No ClinGen
TOPMed
gnomAD
rs749790081
CA3515024
3 A>V No ClinGen
ExAC
gnomAD
CA361784810
rs1336743456
4 M>T No ClinGen
gnomAD
CA129176685
rs1040621750
4 M>V No ClinGen
Ensembl
rs1193048835
CA361784817
5 N>H No ClinGen
TOPMed
gnomAD
CA361784833
rs1561738640
7 E>G No ClinGen
Ensembl
CA361784841
rs1407543289
8 K>R No ClinGen
gnomAD
rs757815291
CA3515025
9 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1020331668
CA129176700
11 A>E No ClinGen
gnomAD
CA3515027
VAR_039899
CA361784902
rs180802994
17 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
UniProt
dbSNP
rs1189533418
CA361784900
17 E>G No ClinGen
gnomAD
CA361784903
rs1457946148
18 V>M No ClinGen
TOPMed
gnomAD
rs1159661553
CA361784920
20 S>C No ClinGen
gnomAD
CA361784924
rs1390516945
21 N>D No ClinGen
TOPMed
gnomAD
rs1390516945
CA361784923
21 N>Y No ClinGen
TOPMed
gnomAD
TCGA novel 22 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1034089597
CA129176719
22 I>V No ClinGen
gnomAD
CA361784939
rs1322491414
23 K>R No ClinGen
TOPMed
TCGA novel 24 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1317484762
CA361784948
24 E>G No ClinGen
gnomAD
CA361784944
rs1378941541
24 E>K No ClinGen
TOPMed
gnomAD
rs1438074567
CA361784954
25 T>P No ClinGen
gnomAD
CA361784961
rs1228567208
26 L>P No ClinGen
gnomAD
rs139363001
CA129176726
27 K>N No ClinGen
1000Genomes
CA361784976
rs1327432426
28 I>M No ClinGen
gnomAD
rs1290629133
CA361784974
28 I>T No ClinGen
gnomAD
rs994846114
CA129176757
33 P>A No ClinGen
TOPMed
rs994846114
CA129176753
33 P>T No ClinGen
TOPMed
CA361785006
rs1377693714
34 V>I No ClinGen
TOPMed
TCGA novel 37 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA361785032
rs1268209168
37 T>I No ClinGen
gnomAD
CA361785034
rs1473059816
38 M>V No ClinGen
TOPMed
gnomAD
CA361785045
rs1184533557
39 A>E No ClinGen
gnomAD
CA361785058
rs1157782183
41 D>G No ClinGen
gnomAD
rs1561738748
CA361785056
41 D>Y No ClinGen
Ensembl
rs962229683
CA129176766
42 S>A No ClinGen
Ensembl
rs1581637754
CA361785079
44 N>K No ClinGen
Ensembl
CA361785077
rs1414501331
44 N>S No ClinGen
TOPMed
gnomAD
CA361785091
rs1189812480
46 M>T No ClinGen
TOPMed
CA129176770
rs1027625080
48 T>A No ClinGen
Ensembl
CA3515031
rs779184883
48 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA361785104
rs779184883
48 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA3515032
rs187395700
51 S>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA129176782
rs187395700
51 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA129176788
rs187395700
51 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1581637766
CA361785130
52 A>G No ClinGen
Ensembl
TCGA novel 53 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3515033
rs762970800
54 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA129176804
COSM1595125
rs930645632
54 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1050494429
CA129176820
56 T>I No ClinGen
TOPMed
gnomAD
rs1050494429
CA129176815
56 T>R No ClinGen
TOPMed
gnomAD
rs1299643610
CA361785156
57 G>E No ClinGen
TOPMed
rs528514907
CA129176830
58 H>Q No ClinGen
Ensembl
rs564391527
CA3515035
58 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759212417
CA3515036
59 E>K No ClinGen
ExAC
gnomAD
rs181858503
CA3515037
60 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1227064665
CA361785175
60 G>D No ClinGen
gnomAD
rs181858503
CA361785173
60 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA361785185
rs1477282413
62 A>T No ClinGen
gnomAD
rs1263237930
CA361785188
62 A>V No ClinGen
Ensembl
rs1249976416
CA361785195
63 S>* No ClinGen
TOPMed
gnomAD
CA361785196
rs1249976416
63 S>L No ClinGen
TOPMed
gnomAD
CA361785192
rs1207370151
63 S>P No ClinGen
gnomAD
rs1010273904
CA361785201
64 P>L No ClinGen
gnomAD
rs1010273904
CA129176875
64 P>R No ClinGen
gnomAD
CA361785199
rs1437434829
64 P>S No ClinGen
gnomAD
CA361785207
rs1473752726
65 P>L No ClinGen
gnomAD
CA361785202
rs1237785008
65 P>S No ClinGen
gnomAD
CA129176897
rs913219331
66 T>A No ClinGen
TOPMed
gnomAD
CA361785243
rs551248565
71 A>D No ClinGen
1000Genomes
gnomAD
TCGA novel 71 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA129176902
rs551248565
71 A>V No ClinGen
1000Genomes
gnomAD
CA3515040
rs563186745
73 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1169723689
CA361785258
74 R>G No ClinGen
TOPMed
rs1290993470
CA361785264
74 R>S No ClinGen
gnomAD
rs1043976431
CA129176906
76 A>V No ClinGen
gnomAD
CA129176908
rs904216759
77 S>F No ClinGen
TOPMed
gnomAD
CA361785289
rs1451113614
78 Y>* No ClinGen
gnomAD
rs978814079
CA129176911
78 Y>C No ClinGen
TOPMed
gnomAD
rs1554126690
CA361785303
80 S>F No ClinGen
Ensembl
CA129176917
rs925151384
82 H>Y No ClinGen
TOPMed
gnomAD
rs1230759009
CA361785328
84 S>* No ClinGen
gnomAD
CA129176919
rs748507126
85 N>D No ClinGen
Ensembl
CA129176925
rs999847831
85 N>S No ClinGen
Ensembl
rs530731715
CA129176928
86 V>M No ClinGen
1000Genomes
CA361785342
rs936462559
87 V>L No ClinGen
TOPMed
CA129176932
rs936462559
87 V>M No ClinGen
TOPMed
CA129176940
rs781556508
88 L>V No ClinGen
Ensembl
rs1275516308
CA361785358
89 W>L No ClinGen
TOPMed
CA361785364
rs1581637909
90 D>A No ClinGen
Ensembl
CA3515041
rs753392162
90 D>N No ClinGen
ExAC
gnomAD
CA361785363
rs753392162
90 D>Y No ClinGen
ExAC
gnomAD
rs1358694005
CA361785383
92 P>L No ClinGen
TOPMed
rs1325800218
CA361785379
92 P>S No ClinGen
TOPMed
gnomAD
CA361785401
rs72553867
94 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_039900
CA3515042
rs72553867
94 T>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA361785414
rs1449969231
96 S>P No ClinGen
gnomAD
CA3515044
rs750960300
97 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA361785423
rs750960300
97 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1561738938
CA361785427
97 A>V No ClinGen
Ensembl
CA361785429
rs1561738941
98 T>S No ClinGen
Ensembl
CA129176962
rs1024182878
98 T>S No ClinGen
TOPMed
gnomAD
rs1172742457
CA361785447
100 T>A No ClinGen
gnomAD
rs758635688
CA3515045
100 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 102 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1468633505
CA361785472
102 E>G No ClinGen
gnomAD
rs1199734968
CA361785466
102 E>K No ClinGen
TOPMed
gnomAD
rs1336452787
CA361785487
103 N>S No ClinGen
gnomAD
rs972416559
CA129176974
104 Y>* No ClinGen
gnomAD
CA361785507
rs10065172
105 L>M Inflammatory bowel disease 19 (ibd19) [Ensembl] No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747196011
CA3515046
105 L>P No ClinGen
ExAC
gnomAD
rs769060814
CA3515047
108 M>V No ClinGen
ExAC
gnomAD
CA129176982
rs1026652178
112 R>Q No ClinGen
TOPMed
gnomAD
rs781399456
CA3515048
112 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA129176988
rs888198292
113 Y>C No ClinGen
TOPMed
gnomAD
rs1262253413
CA361785632
115 F>L No ClinGen
gnomAD
CA361785642
rs1473718690
116 I>L No ClinGen
TOPMed
rs1465308333
CA361785669
118 V>I No ClinGen
TOPMed
gnomAD
rs1465308333
CA361785671
118 V>L No ClinGen
TOPMed
gnomAD
rs1259073219
CA361785699
120 S>F No ClinGen
gnomAD
rs1425162166
CA361785711
122 Q>* No ClinGen
gnomAD
rs72553868
CA3515050
124 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1356724715
CA361785742
124 S>I No ClinGen
TOPMed
rs1356724715
CA361785744
124 S>N No ClinGen
TOPMed
rs72553868
CA129176992
124 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA129176999
rs910643430
125 M>I No ClinGen
Ensembl
rs998415796
CA129177006
126 N>H No ClinGen
TOPMed
rs774097437
CA3515051
126 N>S No ClinGen
ExAC
gnomAD
CA361785782
rs1479241391
127 H>R No ClinGen
gnomAD
rs1288606899
CA361785778
127 H>Y No ClinGen
TOPMed
rs1403723829
CA361785810
129 M>I No ClinGen
TOPMed
CA361785814
rs1176193689
130 L>F No ClinGen
TOPMed
gnomAD
rs944754177
CA129177013
132 K>E No ClinGen
gnomAD
CA129177015
rs1020311575
133 T>A No ClinGen
TOPMed
gnomAD
rs1384852901
CA361785839
COSM1567828
134 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA3515053
rs771760057
137 M>V No ClinGen
ExAC
gnomAD
CA361785872
rs1343923577
138 G>V No ClinGen
gnomAD
CA361785880
rs1282432028
139 K>M No ClinGen
gnomAD
rs1223081022
CA361785875
139 K>Q No ClinGen
gnomAD
rs1018634990
CA129177043
142 Y>C No ClinGen
Ensembl
rs1329529820
CA361785908
143 I>V No ClinGen
gnomAD
rs1217660445
CA361785915
144 V>F No ClinGen
gnomAD
TCGA novel 145 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA129177047
rs945552191
147 K>T No ClinGen
Ensembl
rs1270349242
CA361785959
150 M>R No ClinGen
TOPMed
gnomAD
rs1270349242
CA361785958
150 M>T No ClinGen
TOPMed
gnomAD
CA361785965
rs1489736190
151 D>Y No ClinGen
gnomAD
CA129177063
rs539375226
152 L>P No ClinGen
1000Genomes
TOPMed
gnomAD
rs1247174191
CA361785993
155 G>D No ClinGen
TOPMed
CA361785997
rs371234734
156 A>S No ClinGen
TOPMed
gnomAD
CA129177067
rs371234734
156 A>T No ClinGen
TOPMed
gnomAD
CA129177073
rs373476641
157 L>F No ClinGen
gnomAD
rs1222550972
CA361786005
157 L>R No ClinGen
TOPMed
CA361786002
rs373476641
157 L>V No ClinGen
gnomAD
rs1225361140
CA361786008
158 P>S No ClinGen
TOPMed
gnomAD
CA3515056
rs763772711
159 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1363769169
CA361786026
161 Q>E No ClinGen
gnomAD
rs1234599021
CA361786031
161 Q>H No ClinGen
TOPMed
CA361786036
rs1458848593
162 L>P No ClinGen
gnomAD
CA361786042
rs1295386241
163 L>P No ClinGen
gnomAD
CA129177074
rs935668004
164 Q>E No ClinGen
TOPMed
rs758335779
CA3515057
173 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA361786109
rs1352556442
173 L>H No ClinGen
gnomAD
rs1304567948
CA361786125
175 K>M No ClinGen
gnomAD
CA3515060
rs764743745
177 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3515058
rs777611759
177 R>W No ClinGen
ExAC
TOPMed
CA361786148
rs1356574835
179 C>Y No ClinGen
gnomAD
CA361786165
rs1221079969
181 Y>C No ClinGen
gnomAD

1 associated diseases with A1A4Y4

[MIM: 612278]: Inflammatory bowel disease 19 (IBD19)

A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:17554261, ECO:0000269|PubMed:19174780, ECO:0000269|PubMed:21278745}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID
  • A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:17554261, ECO:0000269|PubMed:19174780, ECO:0000269|PubMed:21278745}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

1 regional properties for A1A4Y4

Type Name Position InterPro Accession
domain IRG-type guanine nucleotide-binding (G) domain 32 - 181 IPR030385

Functions

Description
EC Number
Subcellular Localization
  • Golgi apparatus membrane
  • Cell membrane
  • Cytoplasmic vesicle, phagosome membrane
  • Cytoplasmic vesicle, autophagosome membrane
  • Lysosome membrane
  • Late endosome membrane
  • Mitochondrion membrane
  • Cell projection, phagocytic cup
  • Behaves like an integral membrane protein
  • Recruited to the plasma membrane around forming phagocytic cups, it remains associated with maturing phagosomes
  • Association with phagosomes is dependent on nucleotide-binding but is IFNG-independent
  • Also detected in late endosomes and lysosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
autophagosome membrane The lipid bilayer surrounding an autophagosome, a double-membrane-bounded vesicle in which endogenous cellular material is sequestered.
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
phagocytic cup An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome.
phagocytic vesicle membrane The lipid bilayer surrounding a phagocytic vesicle.

6 GO annotations of molecular function

Name Definition
BH3 domain binding Binding to a BH3 protein domain, present in Bcl-2 family members. The BH3 domain is a potent death domain and has an important role in protein-protein interactions and in cell death.
CARD domain binding Binding to a CARD (N-terminal caspase recruitment) domain, a protein-protein interaction domain that belongs to the death domain-fold superfamily. These protein molecule families are similar in structure with each consisting of six or seven anti-parallel alpha-helices that form highly specific homophilic interactions between signaling partners. CARD exists in the N-terminal prodomains of several caspases and in apoptosis-regulatory proteins and mediates the assembly of CARD-containing proteins that participate in activation or suppression of CARD carrying members of the caspase family.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
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.
protein serine/threonine kinase activator activity Binds to and increases the activity of a protein serine/threonine kinase.

23 GO annotations of biological process

Name Definition
autophagosome assembly The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
CAMKK-AMPK signaling cascade The series of molecular signals in which calmodulin-dependent protein kinase activity enabled by a CAMKK directly activates an AMPK. The cascade begins with calmodulin binding calcium which in turn binds CAMKK enabling its calmodulin-dependent protein kinase activity. The cascade ends with AMP-activated protein kinase activity.
cellular response to interferon-beta 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 an interferon-beta stimulus. Interferon-beta is a type I interferon.
cellular response to lipopolysaccharide 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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to virus 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 from a virus.
defense response Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack.
defense response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
defense response to Gram-negative bacterium Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism.
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.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
nucleotide-binding oligomerization domain containing 2 signaling pathway The series of molecular signals initiated by the binding of a ligand (such as a bacterial peptidoglycan) to a cytoplasmic nucleotide-binding oligomerization domain containing 2 (NOD2) protein receptor, and ending with regulation of a downstream cellular process.
positive regulation of autophagosome maturation Any process that activates or increases the frequency, rate or extent of autophagosome maturation.
positive regulation of autophagy Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of interferon-gamma-mediated signaling pathway Any process that increases the rate, frequency or extent of an interferon-gamma-mediated signaling pathway.
positive regulation of peptidyl-serine phosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of peptidyl-threonine phosphorylation Any process that increases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
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.
positive regulation of protein serine/threonine kinase activity Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.
protein destabilization Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation.
protein lipidation involved in autophagosome assembly The protein lipidation process by which phosphatidylethanolamine is conjugated to a protein of the ATG8 family, leading to membrane insertion of the protein as a step in autophagosome assembly.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of protein complex stability Any process that affects the structure and integrity of a protein complex by altering the likelihood of its assembly or disassembly.
regulation of protein-containing complex assembly Any process that modulates the frequency, rate or extent of protein complex assembly.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MEAMNVEKAS ADGNLPEVIS NIKETLKIVS RTPVNITMAG DSGNGMSTFI SALRNTGHEG
70 80 90 100 110 120
KASPPTELVK ATQRCASYFS SHFSNVVLWD LPGTGSATTT LENYLMEMQF NRYDFIMVAS
130 140 150 160 170 180
AQFSMNHVML AKTAEDMGKK FYIVWTKLDM DLSTGALPEV QLLQIRENVL ENLQKERVCE
Y