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

85 structures for P46777

Entry ID Method Resolution Chain Position Source
4UG0 EM - LD 1-297 PDB
4V6X EM 500 A CD 1-297 PDB
5AJ0 EM 350 A AD 1-297 PDB
5LKS EM 360 A LD 1-297 PDB
5T2C EM 360 A G 1-297 PDB
6IP5 EM 390 A 1G 1-297 PDB
6IP6 EM 450 A 1G 1-297 PDB
6IP8 EM 390 A 1G 1-297 PDB
6LQM EM 309 A r 1-297 PDB
6LSR EM 313 A r 1-297 PDB
6LSS EM 323 A r 1-297 PDB
6LU8 EM 313 A r 1-297 PDB
6OLE EM 310 A F 4-297 PDB
6OLF EM 390 A F 4-297 PDB
6OLG EM 340 A AD 4-297 PDB
6OLI EM 350 A F 4-297 PDB
6OLZ EM 390 A AD 4-297 PDB
6OM0 EM 310 A F 4-297 PDB
6OM7 EM 370 A F 4-297 PDB
6QZP EM 290 A LD 2-294 PDB
6W6L EM 384 A F 1-297 PDB
6XA1 EM 280 A LD 2-291 PDB
6Y0G EM 320 A LD 1-297 PDB
6Y2L EM 300 A LD 1-297 PDB
6Y57 EM 350 A LD 1-297 PDB
6Y6X EM 280 A LD 2-294 PDB
6Z6L EM 300 A LD 1-297 PDB
6Z6M EM 310 A LD 1-297 PDB
6Z6N EM 290 A LD 1-297 PDB
6ZM7 EM 270 A LD 1-297 PDB
6ZME EM 300 A LD 1-297 PDB
6ZMI EM 260 A LD 1-297 PDB
6ZMO EM 310 A LD 1-297 PDB
7BHP EM 330 A LD 1-297 PDB
7F5S EM 272 A LD 1-297 PDB
7OW7 EM 220 A G 1-297 PDB
7QVP EM 300 A LD/MD 1-297 PDB
7XNX EM 270 A LD 1-297 PDB
7XNY EM 250 A LD 1-297 PDB
8A3D EM 167 A G 1-297 PDB
8BGU EM 410 A A 1-297 PDB
8FL0 EM 291 A SB 1-297 PDB
8FL2 EM 267 A SB 1-297 PDB
8FL3 EM 253 A SB 1-297 PDB
8FL4 EM 289 A SB 1-297 PDB
8FL6 EM 262 A SB 1-297 PDB
8FL7 EM 255 A SB 1-297 PDB
8FL9 EM 275 A SB 1-297 PDB
8FLA EM 263 A SB 1-297 PDB
8FLB EM 255 A SB 1-297 PDB
8FLC EM 276 A SB 1-297 PDB
8FLD EM 258 A SB 1-297 PDB
8FLE EM 248 A SB 1-297 PDB
8FLF EM 265 A SB 1-297 PDB
8G5Y EM 229 A LD 1-297 PDB
8G5Z EM 264 A LD 2-295 PDB
8G60 EM 254 A LD 1-297 PDB
8G61 EM 294 A LD 1-297 PDB
8G6J EM 280 A LD 1-297 PDB
8GLP EM 167 A LD 1-297 PDB
8IDT EM 280 A r 1-297 PDB
8IDY EM 300 A r 1-297 PDB
8IE3 EM 330 A r 1-297 PDB
8IFD EM 259 A 1G 1-297 PDB
8IFE EM 257 A 1G 1-297 PDB
8INE EM 320 A r 1-297 PDB
8INF EM 300 A r 1-297 PDB
8INK EM 320 A R 1-297 PDB
8IPD EM 320 A R 1-297 PDB
8IPX EM 430 A R 1-297 PDB
8IPY EM 320 A R 1-297 PDB
8IR1 EM 330 A C 1-297 PDB
8IR3 EM 350 A C 1-297 PDB
8JDJ EM 250 A J 1-297 PDB
8JDK EM 226 A J 1-297 PDB
8JDL EM 242 A J 1-297 PDB
8JDM EM 267 A J 1-297 PDB
8OHD EM 310 A LD 1-297 PDB
8OJ0 EM 330 A LD 1-297 PDB
8OJ5 EM 290 A LD 1-297 PDB
8OJ8 EM 330 A LD 1-297 PDB
8QFD EM 220 A D 1-297 PDB
8Y0W EM 340 A LD 1-297 PDB
8Y0X EM 330 A LD 1-297 PDB
AF-P46777-F1 Predicted AlphaFoldDB

249 variants for P46777

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001044815
rs1686990557
3 F>missing Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
rs1686990676
RCV001056294
6 V>missing Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
rs1686991615
RCV001220057
12 Y>C Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
rs1686991727
RCV001267131
14 K>missing Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
CA341240733
COSM3401090
RCV000822654
CA26756932
rs148673599
16 Y>* Variant assessed as Somatic; impact. Diamond-Blackfan anemia central_nervous_system [NCI-TCGA, ClinVar, Cosmic] Yes ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
ClinVar
dbSNP
RCV000006556
RCV001217229
rs121434405
RCV000627210
CA253786
23 R>* Diamond-Blackfan anemia Variant assessed as Somatic; impact. Diamond-blackfan anemia 6 (dba6) Diamond-Blackfan anemia 6 [ClinVar, NCI-TCGA, Ensembl] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
CA341240781
rs1558283853
RCV000694413
24 R>* Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA952373
rs772575122
RCV001269404
RCV001326298
35 R>C Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA341240898
rs1553285006
RCV000626216
40 D>N Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000466439
CA16610155
rs1060503527
COSM465099
44 Y>* Diamond-Blackfan anemia kidney [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
RCV001008074
rs1558284033
RCV000761557
RCV000702906
RCV002249419
57 N>missing Diamond-Blackfan anemia Diamond-Blackfan anemia 1 Diamond-Blackfan anemia 6 [ClinVar] Yes ClinVar
dbSNP
RCV000805012
rs1571024385
57 N>missing Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
CA341241059
rs1553285028
RCV000638827
57 N>S Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000819548
rs1571024430
RCV000006558
59 D>missing Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinVar
dbSNP
RCV000691705
rs1558284062
CA341241101
63 Q>* Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001850572
RCV000405612
CA952409
rs750383596
68 R>C Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA952412
RCV000810118
RCV002495118
rs752867126
77 A>T Diamond-Blackfan anemia Variant assessed as Somatic; 0.0 impact. Diamond-Blackfan anemia 6 [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
rs1571026775
RCV000006559
79 Y>missing Diamond-Blackfan anemia 6 [ClinVar] Yes ClinVar
dbSNP
RCV001231388
rs1043234543
RCV002497788
CA26757855
79 Y>N Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV002444558
RCV000087038
rs587777117
CA267570
82 E>* Diamond-Blackfan anemia Diamond-blackfan anemia 6 (dba6) Diamond-Blackfan anemia 6 [ClinVar, Ensembl] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA26757888
rs970129317
RCV001314388
84 P>R Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000543851
rs1553121909
86 Y>missing Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
RCV001265621
rs1687054029
90 V>missing Diamond-Blackfan anemia 6 [ClinVar] Yes ClinVar
dbSNP
rs775952185
RCV002487819
RCV000818994
CA952420
90 V>A Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001321696
rs1687056401
106 A>T Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
rs751845365
RCV001210389
CA952432
107 R>H Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000229721
CA10581818
rs878854146
109 L>P Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1687120549
RCV001101554
134 S>R Diamond-Blackfan anemia 6 [ClinVar] Yes ClinVar
dbSNP
rs200075817
RCV002059504
CA952458
RCV003151016
RCV000406449
135 I>V Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs367631074
RCV001308249
140 G>D Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
RCV000006557
rs121434406
CA253788
RCV002460888
VAR_055450
RCV000499952
RCV001306122
140 G>S Diamond-Blackfan anemia Diamond-blackfan anemia 6 (dba6) Diamond-Blackfan anemia 6 DBA6 [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs11540836
RCV002476139
RCV000536846
CA952466
CA26758921
142 F>L Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs1687123286
RCV001332618
154 T>* Diamond-Blackfan anemia 6 [ClinVar] Yes ClinVar
dbSNP
RCV000812596
rs1571031819
CA341242951
RCV003151156
205 A>T Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA952527
RCV002484225
RCV001226000
rs770095159
209 R>C Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000233634
RCV000503324
VAR_052009
RCV000513699
RCV001093892
rs11540832
CA952529
RCV000986343
210 Y>C Diamond-Blackfan anemia Diamond-Blackfan anemia 1 Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001239349
rs1687178005
212 M>missing Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
rs764296257
CA952531
RCV001101555
214 E>D Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs587777118
RCV000087039
CA267572
222 Q>* Diamond-blackfan anemia 6 (dba6) Diamond-Blackfan anemia 6 [Ensembl, ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs767163981
RCV001209210
CA952534
222 Q>H Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1687179289
RCV001059773
225 Q>P Diamond-Blackfan anemia [ClinVar] Yes ClinVar
dbSNP
rs1571032029
RCV000853337
232 T>missing Diamond-Blackfan anemia 6 [ClinVar] Yes ClinVar
dbSNP
rs576330538
RCV000791214
CA952539
RCV002536927
234 D>G Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs938367538
CA16610139
RCV000475823
234 D>Y Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs773839391
RCV000365270
CA952558
RCV001410786
261 V>L Diamond-Blackfan anemia Diamond-Blackfan anemia 6 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000689935
COSM3419583
CA952637
rs765443248
268 R>H Diamond-Blackfan anemia Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
VAR_055451 285 A>V DBA6 [UniProt] Yes UniProt
RCV000463759
CA16610167
rs1060503545
290 A>T Diamond-Blackfan anemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 2 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749504844
CA952351
6 V>I No ClinGen
ExAC
gnomAD
rs749504844
CA341240656
6 V>L No ClinGen
ExAC
gnomAD
TCGA novel 8 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774416689
CA952353
11 A>D No ClinGen
ExAC
gnomAD
TCGA novel 15 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767994083
CA952355
17 Q>P No ClinGen
ExAC
gnomAD
rs1182717955
CA341240778
23 R>Q No ClinGen
TOPMed
gnomAD
CA341240783
rs1198185864
24 R>Q No ClinGen
TOPMed
rs1351630493
CA341240804
26 G>S No ClinGen
TOPMed
gnomAD
rs774705183
CA952371
28 T>S No ClinGen
ExAC
gnomAD
rs1475427634
CA341240828
29 D>V No ClinGen
TOPMed
rs748318627
CA952372
30 Y>H No ClinGen
ExAC
gnomAD
rs1236737150
CA341240838
31 Y>N No ClinGen
TOPMed
rs1294471544
CA341240873
36 L>S No ClinGen
gnomAD
CA341240894
rs1284275713
39 Q>R No ClinGen
TOPMed
rs761298943
CA952375
40 D>G No ClinGen
ExAC
gnomAD
CA341240917
rs1558283980
42 N>S No ClinGen
Ensembl
CA341240937
rs1232329456
45 N>D No ClinGen
TOPMed
gnomAD
CA341240936
rs1232329456
45 N>H No ClinGen
TOPMed
gnomAD
CA952376
rs767035217
45 N>S No ClinGen
ExAC
gnomAD
RCV001268005
rs1687002124
48 K>missing No ClinVar
dbSNP
TCGA novel 48 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 49 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1233574565
CA341240964
49 Y>H No ClinGen
TOPMed
TCGA novel 50 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1663969
rs1380310694
CA341240986
50 R>S kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
COSM1748666
CA952379
rs764649729
54 R>C Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA26757055
rs912779029
54 R>H No ClinGen
TOPMed
CA952381
rs757996884
56 T>A No ClinGen
ExAC
gnomAD
CA341241062
rs1469578043
57 N>K No ClinGen
gnomAD
rs1558284048
CA341241073
59 D>A No ClinGen
Ensembl
CA952382
TCGA novel
rs763905952
60 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 62 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341241092
rs1456810271
62 C>S No ClinGen
TOPMed
rs372954310
CA26757071
63 Q>L No ClinGen
ESP
rs1460207899
CA341241444
65 A>T No ClinGen
gnomAD
CA341241449
rs1164645812
65 A>V No ClinGen
gnomAD
rs1402637100
CA341241450
66 Y>N No ClinGen
gnomAD
CA26757816
rs904664294
67 A>S No ClinGen
TOPMed
CA952410
rs755960588
68 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA341241473
rs1357227822
69 I>M No ClinGen
gnomAD
rs1231286148
CA341241476
70 E>* No ClinGen
gnomAD
CA341241474
rs1231286148
70 E>K No ClinGen
gnomAD
TCGA novel 73 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1206500006
CA341241511
74 I>M No ClinGen
gnomAD
CA341241509
rs1350991292
74 I>T No ClinGen
gnomAD
rs1272308261
CA341241506
74 I>V No ClinGen
TOPMed
gnomAD
CA341241520
rs1483322912
76 C>R No ClinGen
gnomAD
CA952413
rs14361
77 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341241535
rs1474511192
78 A>G No ClinGen
TOPMed
gnomAD
CA16040510
rs1435009501
79 Y>F No ClinGen
gnomAD
TCGA novel 79 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 81 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1199764996
CA341241552
81 H>R No ClinGen
TOPMed
gnomAD
rs771331683
CA952416
82 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA952417
rs781353827
86 Y>C No ClinGen
ExAC
gnomAD
CA26757912
rs11540831
89 K>* No ClinGen
Ensembl
rs1314815534
CA341241602
89 K>R No ClinGen
gnomAD
rs371559214
CA952421
91 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA952422
rs553146536
92 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA341241635
rs1277412455
95 Y>H No ClinGen
gnomAD
TCGA novel 95 Y>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1211064485
CA341241642
96 A>T No ClinGen
gnomAD
CA341241646
rs1281806562
96 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767371010
CA952425
97 A>T No ClinGen
ExAC
gnomAD
rs1251824626
CA341241663
99 Y>C No ClinGen
gnomAD
CA26757947
rs984455678
100 C>Y No ClinGen
TOPMed
RCV000722589
CA341241678
rs1557439964
101 T>S No ClinGen
ClinVar
Ensembl
dbSNP
CA952429
rs766476007
104 L>V No ClinGen
ExAC
gnomAD
rs777933769
CA952431
107 R>C No ClinGen
ExAC
gnomAD
CA341241709
rs751845365
107 R>L No ClinGen
ExAC
gnomAD
CA26758785
rs878854146
109 L>H No ClinGen
Ensembl
TCGA novel 109 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751630540
CA952449
110 L>F No ClinGen
ExAC
gnomAD
rs757337697
CA952450
111 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1064793686
RCV000483793
112 R>missing No ClinVar
dbSNP
CA952452
rs750651869
112 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 113 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756437351
CA952453
113 F>S No ClinGen
ExAC
gnomAD
rs962265696
CA26758852
114 G>D No ClinGen
gnomAD
CA341241936
rs1203679883
115 M>I No ClinGen
gnomAD
rs1292370167
CA341241946
116 D>E No ClinGen
TOPMed
rs1221719024
CA341241955
118 I>L No ClinGen
TOPMed
rs376960219
CA952454
119 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341241973
rs1215872460
120 E>G No ClinGen
TOPMed
gnomAD
CA341241993
rs1227628823
123 V>L No ClinGen
TOPMed
rs11540843
CA26758862
128 D>G No ClinGen
TOPMed
CA341242024
rs1295258351
128 D>Y No ClinGen
TOPMed
rs539328780
CA26758867
130 Y>F No ClinGen
Ensembl
rs1347839108
CA341242067
131 N>S No ClinGen
TOPMed
CA952457
rs779364652
132 V>A No ClinGen
ExAC
gnomAD
rs1571029478
CA341242094
133 E>K No ClinGen
Ensembl
RCV001268801
rs1687120632
135 I>missing No ClinVar
dbSNP
CA341242129
rs771599532
135 I>N No ClinGen
ExAC
gnomAD
rs771599532
CA952459
135 I>T No ClinGen
ExAC
gnomAD
TCGA novel 136 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746606485
CA952461
137 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1190811369
CA341242161
138 Q>K No ClinGen
gnomAD
rs776519108
CA952463
139 P>L No ClinGen
ExAC
gnomAD
rs770863952
CA952462
139 P>S No ClinGen
ExAC
gnomAD
TCGA novel 139 P>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA952464
rs367631074
140 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767564815
CA952467
143 T>A No ClinGen
ExAC
gnomAD
rs1278125606
CA341242273
145 Y>C No ClinGen
gnomAD
CA26758932
rs570656717
148 A>T No ClinGen
1000Genomes
CA26758936
rs11540829
148 A>V No ClinGen
Ensembl
rs12561972
CA26758943
149 G>C No ClinGen
Ensembl
TCGA novel 149 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 154 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144294099
CA952469
155 T>I No ClinGen
ESP
ExAC
gnomAD
TCGA novel 156 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 157 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341242449
rs1321402734
159 V>L No ClinGen
gnomAD
rs766756687
CA952470
161 G>V No ClinGen
ExAC
gnomAD
TCGA novel 161 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs957088087
CA26758972
167 V>A No ClinGen
TOPMed
CA952471
rs754245145
173 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA341242660
rs1251989135
175 H>D No ClinGen
TOPMed
rs1262464843
CA341242674
176 S>R No ClinGen
gnomAD
rs1057520746
CA16603764
RCV000441812
179 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
TCGA novel 182 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA952520
rs749153960
182 G>D No ClinGen
ExAC
gnomAD
CA341242803
rs1397041399
184 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs754720452
CA952521
186 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 187 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341242835
rs1557441782
188 K>R No ClinGen
Ensembl
CA26759598
rs965247191
189 E>D No ClinGen
TOPMed
rs1323030006
CA341242844
189 E>G No ClinGen
gnomAD
CA341242862
rs1252688079
191 N>K No ClinGen
TOPMed
rs778891633
CA952522
192 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771013653
CA952524
196 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA952523
rs528939210
196 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776644546
CA952525
197 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1293650338
CA341242904
198 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA26759641
rs773325598
200 M>T No ClinGen
TOPMed
gnomAD
rs1284533624
CA341242955
205 A>G No ClinGen
TOPMed
rs1207727513
CA341242957
206 D>Y No ClinGen
gnomAD
rs746120360
CA341242966
207 Y>D No ClinGen
ExAC
gnomAD
rs746120360
CA952526
COSM1344934
207 Y>H Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1345401244
CA341242979
208 M>I No ClinGen
TOPMed
gnomAD
COSM913348
rs775560628
CA952528
209 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1477777637
CA341243003
212 M>T No ClinGen
TOPMed
gnomAD
CA341243029
rs1168298698
215 D>E No ClinGen
TOPMed
rs1162896540
CA341243051
218 A>G No ClinGen
gnomAD
rs1198148348
CA341243068
220 K>N No ClinGen
TOPMed
CA341243065
rs1385870362
220 K>R No ClinGen
TOPMed
gnomAD
CA952533
rs762357870
221 K>E No ClinGen
ExAC
gnomAD
TCGA novel 222 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341243088
CA952535
rs749988750
223 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs1381141260
CA341243090
224 S>A No ClinGen
gnomAD
rs755553750
CA952536
226 Y>C No ClinGen
ExAC
gnomAD
COSM2156530
rs1358595009
CA341243104
226 Y>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM913350
rs568863745
CA952538
231 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1457060815
CA341243151
232 T>I No ClinGen
TOPMed
rs1055462832
CA26759701
235 M>T No ClinGen
TOPMed
rs200087538
CA952540
235 M>V No ClinGen
ExAC
CA341243435
rs775785062
236 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs775785062
CA952552
236 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA341243454
rs1210456794
238 E>D No ClinGen
TOPMed
rs767332385 238 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341243457
rs1336022942
239 M>V No ClinGen
gnomAD
CA341243546
rs1342552675
245 A>V No ClinGen
TOPMed
CA341243547
rs1262302844
246 A>T No ClinGen
TOPMed
COSM913351
rs749410848
CA952553
248 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769164692
CA952554
251 P>L No ClinGen
ExAC
gnomAD
rs1286445715
CA341243630
252 V>G No ClinGen
TOPMed
TCGA novel 255 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341243691
rs1251665065
256 K>N No ClinGen
gnomAD
rs1416015237
CA341243676
256 K>Q No ClinGen
TOPMed
CA952557
rs772751064
257 P>S No ClinGen
ExAC
gnomAD
rs1177042127
CA341243731
260 E>A No ClinGen
gnomAD
CA341243725
rs1187773502
260 E>K No ClinGen
TOPMed
gnomAD
CA341243730
rs1187773502
260 E>Q No ClinGen
TOPMed
gnomAD
CA341243739
rs773839391
261 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA952559
rs760302814
262 K>E No ClinGen
ExAC
gnomAD
CA26761597
rs765742739
262 K>N No ClinGen
ExAC
gnomAD
rs200715037
CA26761599
263 K>N No ClinGen
Ensembl
CA341243769
rs1379364559
263 K>R No ClinGen
TOPMed
gnomAD
rs773298130
CA952635
266 W>C No ClinGen
ExAC
gnomAD
rs760642694
CA952636
268 R>C No ClinGen
ExAC
gnomAD
rs752865114
CA952638
270 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs947531404
CA26762455
271 M>T No ClinGen
Ensembl
rs1177452983
CA341244026
274 A>V No ClinGen
gnomAD
CA952641
rs764283613
278 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764283613
CA952640
278 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs781569413
CA341244085
279 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA952643
rs781569413
279 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA952642
rs757574773
279 R>W No ClinGen
ExAC
gnomAD
CA952644
rs373897566
280 V>A No ClinGen
ESP
ExAC
gnomAD
CA341244109
rs1207601883
282 Q>E No ClinGen
TOPMed
CA26762523
rs921998577
286 S>N No ClinGen
TOPMed
TCGA novel 289 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA26762528
rs150997222
292 E>K No ClinGen
ESP
TOPMed
CA26762572
rs931986000
293 R>Q No ClinGen
TOPMed
rs200315052
COSM1344935
CA26762559
293 R>W large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs1192640684
CA341244205
294 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 295 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1332221185
CA341244211
295 A>T No ClinGen
TOPMed
TCGA novel 296 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 297 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

1 associated diseases with P46777

[MIM: 612561]: Diamond-Blackfan anemia 6 (DBA6)

A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:19061985, ECO:0000269|PubMed:19191325}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:19061985, ECO:0000269|PubMed:19191325}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P46777

Type Name Position InterPro Accession
domain Ribosomal protein L5 eukaryotic, C-terminal 236 - 289 IPR025607

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus, nucleolus
  • Although RP5 is functional within the cytoplasm, the assembly of ribosomal subunits occurs in the nucleus
  • RPL5 nuclear import is mediated by IPO5/RanBP5, IPO7/RanBP7, KPNB1/importin-beta or TPNO1/Trn
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

14 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.
cytosolic large ribosomal subunit The large subunit of a ribosome located in the cytosol.
cytosolic ribosome A ribosome located in the cytosol.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
ribonucleoprotein complex A macromolecular complex that contains both RNA and protein molecules.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

7 GO annotations of molecular function

Name Definition
5S rRNA binding Binding to a 5S ribosomal RNA, the smallest RNA constituent of a ribosome.
mRNA 3'-UTR binding Binding to a 3' untranslated region of an mRNA molecule.
mRNA 5'-UTR binding Binding to an mRNA molecule at its 5' untranslated region.
RNA binding Binding to an RNA molecule or a portion thereof.
structural constituent of ribosome The action of a molecule that contributes to the structural integrity of the ribosome.
ubiquitin ligase inhibitor activity Binds to and stops, prevents or reduces the activity of a ubiquitin ligase.
ubiquitin protein ligase binding Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

12 GO annotations of biological process

Name Definition
cytoplasmic translation The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein.
negative regulation of protein neddylation Any process that stops, prevents or reduces the frequency, rate or extent of protein neddylation.
negative regulation of ubiquitin protein ligase activity Any process that stops, prevents or reduces the frequency, rate or extent of ubiquitin protein ligase activity.
negative regulation of ubiquitin-dependent protein catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
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).
positive regulation of translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of signal transduction by p53 class mediator Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
ribosomal large subunit assembly The aggregation, arrangement and bonding together of constituent RNAs and proteins to form the large ribosomal subunit.
ribosomal large subunit biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis.
rRNA processing Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.
translation The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q58DW5 RPL5 60S ribosomal protein L5 Bos taurus (Bovine) PR
P22451 RPL5 60S ribosomal protein L5 Gallus gallus (Chicken) PR
P47962 Rpl5 60S ribosomal protein L5 Mus musculus (Mouse) PR
P09895 Rpl5 60S ribosomal protein L5 Rattus norvegicus (Rat) PR
P49405 rpl-5 60S ribosomal protein L5 Caenorhabditis elegans PR
O76190 RpL5 60S ribosomal protein L5 Bombyx mori (Silk moth) PR
10 20 30 40 50 60
MGFVKVVKNK AYFKRYQVKF RRRREGKTDY YARKRLVIQD KNKYNTPKYR MIVRVTNRDI
70 80 90 100 110 120
ICQIAYARIE GDMIVCAAYA HELPKYGVKV GLTNYAAAYC TGLLLARRLL NRFGMDKIYE
130 140 150 160 170 180
GQVEVTGDEY NVESIDGQPG AFTCYLDAGL ARTTTGNKVF GALKGAVDGG LSIPHSTKRF
190 200 210 220 230 240
PGYDSESKEF NAEVHRKHIM GQNVADYMRY LMEEDEDAYK KQFSQYIKNS VTPDMMEEMY
250 260 270 280 290
KKAHAAIREN PVYEKKPKKE VKKKRWNRPK MSLAQKKDRV AQKKASFLRA QERAAES