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 A1A4G5

Entry ID Method Resolution Chain Position Source
AF-A1A4G5-F1 Predicted AlphaFoldDB

156 variants for A1A4G5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs368596398
CA2515793
2 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353833663
rs1412780767
3 H>R No ClinGen
gnomAD
CA2515794
rs761766367
4 K>R No ClinGen
ExAC
TOPMed
rs771575307
CA2515798
6 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1403749276
CA353833694
7 D>E No ClinGen
Ensembl
rs953695037
CA79666240
7 D>N No ClinGen
TOPMed
CA353833692
rs1388499822
7 D>V No ClinGen
gnomAD
rs1437840009
CA353833697
8 D>Y No ClinGen
gnomAD
CA2515799
rs750277314
9 D>G No ClinGen
ExAC
gnomAD
rs1362056511
CA353833714
10 D>G No ClinGen
TOPMed
TCGA novel 11 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353833729
rs1385859905
12 S>F No ClinGen
gnomAD
CA353833739
rs1188581282
14 A>P No ClinGen
TOPMed
gnomAD
rs1188581282
CA353833738
14 A>T No ClinGen
TOPMed
gnomAD
rs1465087871
CA353833745
15 K>* No ClinGen
TOPMed
rs1465087871
CA353833746
15 K>E No ClinGen
TOPMed
CA353833778
rs1391545328
19 S>R No ClinGen
TOPMed
gnomAD
rs1422665906
CA353833782
19 S>T No ClinGen
TOPMed
gnomAD
CA2515800
rs550804248
20 F>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353833786
rs550804248
20 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766086917
CA2515801
25 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA79666269
rs912072229
25 W>G No ClinGen
TOPMed
gnomAD
rs912072229
CA353833824
25 W>R No ClinGen
TOPMed
gnomAD
rs1225995481
CA353833839
27 E>Q No ClinGen
gnomAD
CA2515802
rs753420789
28 E>K No ClinGen
ExAC
gnomAD
CA79666273
rs971828053
29 D>E No ClinGen
TOPMed
rs754498900
CA2515803
30 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 30 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1244761789
CA353833862
30 Q>P No ClinGen
TOPMed
gnomAD
TCGA novel 32 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353833882
rs1488069376
33 L>F No ClinGen
gnomAD
rs778347870
CA2515804
33 L>H No ClinGen
ExAC
gnomAD
rs778123972
CA2515807
34 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs758984362
CA2515806
34 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199983086
COSM340655
CA2515808
36 R>C lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199983086
CA353833897
36 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs894128219
CA79666328
36 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA2515809
rs201658663
37 H>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2515810
rs781571184
38 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2515812
rs750149977
38 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs750149977
COSM1035611
CA2515811
38 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1309048754
CA353833911
39 L>P No ClinGen
gnomAD
CA353833909
rs1298400610
39 L>V No ClinGen
gnomAD
rs947867607
CA79666358
41 A>V No ClinGen
TOPMed
rs1351896598
CA353833931
42 T>I No ClinGen
TOPMed
gnomAD
CA79666386
rs758150072
42 T>S No ClinGen
Ensembl
rs558095239
CA2515813
43 S>G No ClinGen
1000Genomes
ExAC
TOPMed
CA2515814
rs762915340
44 H>P No ClinGen
ExAC
gnomAD
CA2515815
rs772104310
45 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1576231401
TCGA novel
CA353833960
47 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA2515816
rs773017851
49 L>M No ClinGen
ExAC
gnomAD
rs1287704888
CA353833983
51 C>R No ClinGen
gnomAD
TCGA novel 51 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1375094744
CA353833992
52 P>S No ClinGen
TOPMed
CA79647530
rs952236701
56 L>F No ClinGen
Ensembl
rs1322519858
CA353820640
57 P>R No ClinGen
gnomAD
CA79647538
rs868776329
59 I>M No ClinGen
Ensembl
CA79647548
rs774796754
60 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 63 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA79647575
rs75122231
64 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs386663873
CA79647558
64 C>RL No ClinGen
Ensembl
CA2515842
rs75122231
64 C>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs78633312
CA353820725
64 C>W No ClinGen
TOPMed
gnomAD
rs1345899743
CA353820717
64 C>Y No ClinGen
gnomAD
CA79647591
rs76354691
65 H>L No ClinGen
1000Genomes
TOPMed
CA353820742
rs1209234655
66 P>S No ClinGen
TOPMed
CA353820759
rs1354311517
67 R>T No ClinGen
TOPMed
rs775004254
CA2515843
68 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs923338221
CA79647605
72 E>K No ClinGen
Ensembl
CA353820844
rs1250494742
73 D>V No ClinGen
gnomAD
rs1156601000
CA353820849
74 Q>E No ClinGen
gnomAD
rs374548753
CA2515850
COSM1035614
77 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2515851
rs200658139
77 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM445201
CA2515857
rs372359372
79 R>C Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
CA79647688
rs377157908
79 R>H No ClinGen
ESP
TOPMed
gnomAD
CA2515868
rs755106558
80 S>I No ClinGen
ExAC
rs749410910
CA2515866
80 S>R No ClinGen
ExAC
rs778820718
CA2515870
80 S>R No ClinGen
ExAC
rs1429934306
CA353820895
81 H>R No ClinGen
TOPMed
CA79647740
rs750490843
81 H>SDRL No ClinGen
Ensembl
rs770905356
CA2515871
81 H>Y No ClinGen
ExAC
gnomAD
rs769516760
CA2515874
82 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA2515873
rs537283276
82 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA2515876
rs762467589
83 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs199784018
CA2515875
83 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs773780602
CA2515878
84 D>G No ClinGen
ExAC
gnomAD
rs768319953
CA2515877
84 D>Y No ClinGen
ExAC
gnomAD
rs761389221
CA2515879
86 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA353820965
rs1327615182
87 K>N No ClinGen
gnomAD
CA353820970
rs1576238154
88 Y>S No ClinGen
Ensembl
CA353820993
rs1196470513
91 D>G No ClinGen
TOPMed
CA353820999
rs1453750573
92 G>W No ClinGen
TOPMed
gnomAD
rs1267677566
COSM336705
CA353821011
94 F>L lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs750892187
CA2515881
97 P>L No ClinGen
ExAC
gnomAD
CA353821142
rs1576238170
102 G>E No ClinGen
Ensembl
rs186853391
CA2515883
103 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2515884
rs754119227
104 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA353821244
rs1392580893
106 S>Y No ClinGen
gnomAD
rs755197709
CA2515885
108 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 109 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375899921
CA2515889
112 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2515888
rs758471943
112 S>P No ClinGen
ExAC
gnomAD
CA353821503
rs1576238186
114 S>C No ClinGen
Ensembl
rs577456740
CA2515890
116 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767811020
CA2515891
117 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA353821590
rs767811020
COSM1035617
117 R>Q Variant assessed as Somatic; 4.644e-05 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA79647940
rs1026449615
117 R>W No ClinGen
TOPMed
gnomAD
rs952181433
CA79647953
118 Q>E No ClinGen
Ensembl
rs779750466
CA2515892
119 L>P No ClinGen
ExAC
gnomAD
CA2515893
rs749084734
120 C>G No ClinGen
ExAC
gnomAD
rs1483146931
CA353821778
122 R>S No ClinGen
gnomAD
rs1300706477
CA353821800
123 T>I No ClinGen
Ensembl
rs1183973559
CA353821837
125 R>C No ClinGen
gnomAD
rs541399644
CA2515894
COSM1035618
125 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA2515895
rs541399644
125 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353821846
rs541399644
125 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761412044
CA2515896
129 L>S No ClinGen
ExAC
gnomAD
CA353822980
rs1333521605
130 G>E No ClinGen
TOPMed
gnomAD
rs747753975
CA2515915
130 G>R No ClinGen
ExAC
gnomAD
rs1451093422
CA353822983
131 P>T No ClinGen
TOPMed
gnomAD
rs188444196
CA2515917
134 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1231008127
CA353823038
138 N>I No ClinGen
gnomAD
rs777192133
CA2515920
139 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs775714742
CA2515923
143 L>Q No ClinGen
ExAC
gnomAD
rs1202919717
CA353823117
145 M>I No ClinGen
TOPMed
gnomAD
rs764276017
CA2515925
147 I>L No ClinGen
ExAC
gnomAD
CA353823192
rs1186370719
150 R>* No ClinGen
gnomAD
CA353823190
rs1186370719
150 R>G No ClinGen
gnomAD
rs193190932
CA2515928
150 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1035621
CA2515927
rs193190932
150 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370799302
CA2515929
151 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2515930
rs753750937
152 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA2515931
rs548311816
153 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA353823262
rs548311816
153 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs1224390936
CA353823234
153 V>I No ClinGen
TOPMed
rs1483359301
CA353823298
154 E>D No ClinGen
TOPMed
gnomAD
CA2515932
rs184735880
154 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747919538
CA2515933
156 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1559848155
CA353823387
157 R>K No ClinGen
Ensembl
CA353823400
rs1389966887
158 S>G No ClinGen
gnomAD
CA353823408
rs1437907314
158 S>N No ClinGen
gnomAD
CA353823419
rs1183994953
158 S>R No ClinGen
TOPMed
gnomAD
rs758175216
CA2515934
159 S>C No ClinGen
ExAC
gnomAD
CA2515935
rs777555762
160 R>K No ClinGen
ExAC
gnomAD
CA353823609
rs1132022
CA353823612
163 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353823563
rs1576239375
163 E>K No ClinGen
Ensembl
rs777021518
CA2515938
169 M>K No ClinGen
ExAC
gnomAD
rs1320764891
CA353823809
169 M>V No ClinGen
gnomAD
CA353823869
rs1178083402
170 A>D No ClinGen
TOPMed
TCGA novel 170 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775876348
CA2515941
171 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs367890829
CA2515940
171 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA2515944
rs376972874
174 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353824006
rs376972874
174 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 176 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2515945
rs761809427
178 E>G No ClinGen
ExAC
gnomAD

1 associated diseases with A1A4G5

Without disease ID

No regional properties for A1A4G5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for A1A4G5

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MEHKDDDDDD VSFAKWMSSF WGHSWREEDQ RGLRERHRLQ ATSHRKTSLP CPLPVLPRIP
70 80 90 100 110 120
SSDCHPRRHS HEDQEFRCRS HVRDYRKYSE DGSFKEPLES KGRSHSKIEK FSESFERQLC
130 140 150 160 170
FRTKRSASLG PESRKERNER ECLRMEIKSR KKVEEERSSR KEEHGEAHMA PLFEKGPE