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

10 structures for P61011

Entry ID Method Resolution Chain Position Source
1MFQ X-ray 310 A C 323-441 PDB
1QB2 X-ray 210 A A/B 326-434 PDB
5L3Q X-ray 320 A A/C 1-436 PDB
6Y2Z X-ray 215 A A/B 1-296 PDB
6Y30 X-ray 265 A A/B 1-296 PDB
6Y31 X-ray 400 A A/B/C/D 1-296 PDB
6Y32 X-ray 260 A A/C/E/G 1-296 PDB
7NFX EM 320 A x 1-504 PDB
7QWQ EM 283 A x 1-504 PDB
AF-P61011-F1 Predicted AlphaFoldDB

203 variants for P61011

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001266771
TCGA novel
rs2044272867
111 G>R Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinVar
NCI-TCGA
dbSNP
rs1594996301
RCV003117679
VAR_083566
RCV000999507
CA389439272
113 G>R Neutropenia, severe congenital, 8, autosomal dominant SCN8 [ClinVar, UniProt] Yes ClinGen
ClinVar
Ensembl
dbSNP
UniProt
RCV000999505
CA389439347
VAR_083567
RCV000577889
rs1555354200
115 T>A Neutropenia, severe congenital, 8, autosomal dominant Shwachman-Diamond syndrome 1 SCN8; decreases expression levels; decreases GTPase activity; decreases neutrophil numbers and migration capacity [ClinVar, UniProt] Yes ClinGen
ClinVar
Ensembl
dbSNP
UniProt
RCV000731602
rs1555354198
RCV000999506
RCV000577900
117 T>missing Neutropenia, severe congenital, 8, autosomal dominant Shwachman-Diamond syndrome 1 [ClinVar] Yes ClinVar
dbSNP
VAR_083568 117 T>del SCN8; decreases expression levels; slightly decreases GTPase activity; decreases neutrophil numbers and migration capacity; decreased granulocyte proliferation; delayed granulocytic differentiation; impaired signaling; increased apoptosis; induced autophagy [UniProt] Yes UniProt
VAR_083569 118 C>Y SCN8; decreased granulocyte proliferation; increased apoptosis [UniProt] Yes UniProt
VAR_083570 136 C>Y SCN8; decreased granulocyte proliferation; delayed granulocytic differentiation; impaired signaling; induced autophagy [UniProt] Yes UniProt
rs1595004126
RCV000999508
CA389442992
VAR_083571
223 A>D Neutropenia, severe congenital, 8, autosomal dominant SCN8; decreased granulocyte proliferation; induced autophagy [ClinVar, UniProt] Yes ClinGen
ClinVar
Ensembl
dbSNP
UniProt
rs1555354750
RCV000999504
RCV000577921
CA389443030
RCV001266476
VAR_083572
226 G>E Neutropenia, severe congenital, 8, autosomal dominant Inborn genetic diseases Shwachman-Diamond syndrome 1 SCN8; decreases expression levels; decreases neutrophil numbers and migration capacity; faster dissociation of the interaction with the SRP receptor subunit SRPRA; reduced SR compaction; impaired interaction with SR; impaired detachment from ribosome; effects on enzymatic activity are unclear as both normal and reduced GTPase activity have been reported [ClinVar, UniProt] Yes ClinGen
ClinVar
Ensembl
dbSNP
UniProt
VAR_083573
rs1595004676
RCV000999509
CA389444509
274 G>D Neutropenia, severe congenital, 8, autosomal dominant SCN8 [ClinVar, UniProt] Yes ClinGen
ClinVar
Ensembl
dbSNP
UniProt
CA7153465
rs777914961
5 D>G No ClinGen
ExAC
gnomAD
CA7153467
rs771241246
8 R>I No ClinGen
ExAC
rs774740121
CA7153468
8 R>S No ClinGen
ExAC
gnomAD
TCGA novel 9 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389435913
rs1566644417
12 S>L No ClinGen
Ensembl
rs760145596
CA7153469
15 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7153471
rs775147862
16 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1321068162
CA389435950
18 S>N No ClinGen
TOPMed
rs1204970328
CA389435961
19 N>D No ClinGen
gnomAD
CA7153474
rs753470590
20 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7153476
rs373410464
22 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373410464
CA389436024
22 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389436055
rs1566644458
23 I>M No ClinGen
Ensembl
rs141757944
CA7153477
26 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7153501
rs766140384
28 L>S No ClinGen
ExAC
gnomAD
rs1289604177
CA389436447
30 A>T No ClinGen
gnomAD
rs1411095348
CA389436460
31 M>I No ClinGen
TOPMed
rs1211048627
CA389436493
36 C>F No ClinGen
gnomAD
rs1464008157
CA389436529
40 L>V No ClinGen
gnomAD
rs1210421994
CA389436608
45 N>S No ClinGen
gnomAD
TCGA novel 47 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389436806
rs1264306584
55 N>S No ClinGen
TOPMed
CA389436815
rs1471592825
56 V>I No ClinGen
gnomAD
rs774086068
CA7153521
59 A>V No ClinGen
ExAC
gnomAD
CA258809251
rs968541224
60 I>V No ClinGen
TOPMed
CA389437202
rs1306533257
67 S>C No ClinGen
gnomAD
CA389437205
rs1306533257
67 S>F No ClinGen
gnomAD
rs1234597472
CA389437309
73 K>R No ClinGen
gnomAD
rs767426097
CA7153523
74 M>I No ClinGen
ExAC
gnomAD
CA389437954
rs1342198371
78 A>T No ClinGen
gnomAD
CA389437994
rs1233154100
83 L>H No ClinGen
gnomAD
TCGA novel 84 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389438002
rs1274959716
85 K>E No ClinGen
gnomAD
rs1458774069
CA389438626
86 L>I No ClinGen
gnomAD
CA389438685
rs1594996149
89 P>S No ClinGen
Ensembl
rs775533482
CA7153545
92 K>E No ClinGen
ExAC
rs760646389
CA7153546
95 T>A No ClinGen
ExAC
gnomAD
rs765427111
CA7153547
95 T>I No ClinGen
ExAC
gnomAD
rs1366664904
CA389438869
97 T>I No ClinGen
TOPMed
gnomAD
rs750470973
CA7153549
100 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA389439044
rs1452571935
104 I>M No ClinGen
TOPMed
rs1340667190
CA389439064
105 M>I No ClinGen
TOPMed
gnomAD
rs374057335
CA389439105
106 F>L No ClinGen
ESP
ExAC
gnomAD
CA258813973
rs868802635
112 S>I No ClinGen
Ensembl
rs753280830
CA7153555
119 S>A No ClinGen
ExAC
gnomAD
rs368641782
CA258815034
122 A>T No ClinGen
ESP
TOPMed
CA389439693
rs1235733928
123 Y>C No ClinGen
gnomAD
rs1278502913
CA389439701
124 Y>C No ClinGen
gnomAD
CA7153588
rs191230389
125 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767571482
CA7153589
127 R>K No ClinGen
ExAC
gnomAD
rs1254411395
CA389439730
128 K>R No ClinGen
gnomAD
CA389439734
rs1270020128
129 G>S No ClinGen
TOPMed
gnomAD
rs1177075638
CA389439771
133 C>Y No ClinGen
gnomAD
rs761089126
CA7153591
137 A>S No ClinGen
ExAC
gnomAD
TCGA novel 143 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775741587
CA7153609
143 G>A No ClinGen
ExAC
gnomAD
COSM1515532
CA7153611
rs764460322
153 T>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 163 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389441047
rs1232030221
171 I>V No ClinGen
gnomAD
rs1595001825
CA389441086
174 E>G No ClinGen
Ensembl
CA389441101
RCV000761872
rs1566651484
175 G>E No ClinGen
ClinVar
Ensembl
dbSNP
CA7153633
rs201104736
177 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 178 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389441204
rs1243071157
179 F>L No ClinGen
TOPMed
CA389441273
rs1595001858
182 E>K No ClinGen
Ensembl
TCGA novel 186 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA258817332
rs1011890852
186 I>V No ClinGen
TOPMed
CA7153634
rs763467987
187 I>L No ClinGen
ExAC
gnomAD
CA258817357
rs1021985705
187 I>T No ClinGen
TOPMed
TCGA novel 188 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1229763852
CA389441391
188 I>V No ClinGen
gnomAD
rs1595001893
CA389441467
193 G>A No ClinGen
Ensembl
rs1429576232
CA389441488
195 H>N No ClinGen
TOPMed
rs766018104
CA7153635
198 E>G No ClinGen
ExAC
CA7153636
rs369651041
204 E>V No ClinGen
ESP
ExAC
gnomAD
rs374247114
CA258817390
210 N>S No ClinGen
ESP
TOPMed
rs140228686
CA7153639
212 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759274453
CA7153637
212 I>V No ClinGen
ExAC
gnomAD
rs774984145
CA7153654
213 Q>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 216 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7153658
rs760322837
217 I>T No ClinGen
ExAC
gnomAD
rs748554500
CA7153657
217 I>V No ClinGen
ExAC
gnomAD
COSM1748821
CA389442951
rs1395833761
221 M>V urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1400579593
CA389442984
223 A>T No ClinGen
TOPMed
TCGA novel 224 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757036271
CA7153661
225 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 234 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1397184907
CA389443236
235 A>S No ClinGen
gnomAD
rs1299865835
CA389443331
238 D>E No ClinGen
TOPMed
CA258818843
rs993281121
240 V>A No ClinGen
Ensembl
CA389443367
rs1433091586
240 V>I No ClinGen
gnomAD
CA389443393
rs1173414306
241 D>E No ClinGen
gnomAD
CA258818846
rs975664879
246 I>V No ClinGen
TOPMed
rs1282073104
CA389443667
253 H>R No ClinGen
TOPMed
gnomAD
CA258818860
rs920906296
259 A>T No ClinGen
TOPMed
rs750331626
CA7153663
260 L>V No ClinGen
ExAC
gnomAD
rs755101156
CA7153664
261 S>T No ClinGen
ExAC
gnomAD
CA7153686
rs756132942
264 A>S No ClinGen
ExAC
gnomAD
CA258819192
rs756132942
COSM3419784
264 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs778122134
CA7153687
266 T>A No ClinGen
ExAC
gnomAD
TCGA novel 268 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7153688
rs749487051
269 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1262755314
CA389444313
269 P>S No ClinGen
gnomAD
rs1372808777
CA389444397
271 I>V No ClinGen
gnomAD
rs746403621
CA389444466
273 I>F No ClinGen
ExAC
gnomAD
rs746403621
CA7153691
273 I>V No ClinGen
ExAC
gnomAD
rs746599961
CA7153694
278 H>R No ClinGen
ExAC
gnomAD
rs768022021
CA389444584
279 I>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 279 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7153696
rs776316751
279 I>T No ClinGen
ExAC
gnomAD
rs768022021
CA7153695
279 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 287 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7153697
rs761407366
288 Q>E No ClinGen
ExAC
gnomAD
CA7153698
rs150290957
293 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1236932073
CA389445116
297 M>V No ClinGen
gnomAD
TCGA novel 298 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 299 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389445207
rs1375522228
302 G>E No ClinGen
TOPMed
gnomAD
rs1240561251
CA389445255
305 D>G No ClinGen
gnomAD
CA389445479
rs1290822406
314 D>E No ClinGen
TOPMed
gnomAD
rs1252091441
CA389445502
315 N>S No ClinGen
gnomAD
COSM955483
CA7153724
rs764261072
RCV001327214
317 A>V endometrium [Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA389445559
rs1180440839
318 L>F No ClinGen
gnomAD
CA7153725
rs753898314
324 H>Q No ClinGen
ExAC
gnomAD
rs755358034
CA7153759
325 G>D No ClinGen
ExAC
gnomAD
CA389446912
rs1273302039
332 M>T No ClinGen
gnomAD
rs755668892
CA7153762
336 F>L No ClinGen
ExAC
CA258822904
rs957100298
342 M>I No ClinGen
TOPMed
gnomAD
CA389447138
rs1485986942
347 Q>E No ClinGen
gnomAD
TCGA novel 352 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1408854882 355 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326323536
CA389447361
360 M>V No ClinGen
gnomAD
rs998553668
CA258823090
361 S>N No ClinGen
TOPMed
gnomAD
TCGA novel 365 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759934065
CA7153777
366 Q>R No ClinGen
ExAC
gnomAD
CA7153778
rs767844326
368 S>* No ClinGen
ExAC
gnomAD
rs753224082
CA7153779
369 M>V No ClinGen
ExAC
gnomAD
rs1162883929
CA389447551
COSM168602
373 K>N Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1356180792
CA389447577
375 L>S No ClinGen
gnomAD
CA389447651
rs1401533917
380 D>G No ClinGen
gnomAD
rs1343631939
CA389447690
385 Q>E No ClinGen
gnomAD
CA389447692
rs1399844182
385 Q>R No ClinGen
gnomAD
CA258823100
rs1051117182
386 E>K No ClinGen
Ensembl
rs1439485748
CA389447945
387 L>V No ClinGen
gnomAD
rs144152355
CA7153800
390 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389448046
rs1397088670
391 D>G No ClinGen
TOPMed
gnomAD
CA258825082
rs868172859
393 A>T No ClinGen
TOPMed
rs1172350748
COSM1607643
CA389448116
394 K>R liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs758058844
CA7153804
395 V>G No ClinGen
ExAC
gnomAD
rs199746329
CA258825088
400 P>A No ClinGen
1000Genomes
rs1398862907
CA389448318
404 Q>E No ClinGen
TOPMed
gnomAD
rs370656783
CA7153806
406 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1199749218
CA389448392
408 R>G No ClinGen
gnomAD
rs532831292
CA7153807
410 S>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1466369729
CA389448458
412 V>I No ClinGen
TOPMed
CA7153809
rs748095811
414 T>P No ClinGen
ExAC
gnomAD
CA389448513
rs1341399630
415 R>S No ClinGen
gnomAD
CA389448523
rs770936481
416 D>N No ClinGen
ExAC
gnomAD
CA7153810
rs770936481
416 D>Y No ClinGen
ExAC
gnomAD
CA7153811
rs374841884
417 V>I No ClinGen
ESP
ExAC
gnomAD
TCGA novel 424 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 425 T>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389448703
rs1443152835
426 K>N No ClinGen
TOPMed
gnomAD
CA7153813
rs772221729
428 A>S No ClinGen
ExAC
gnomAD
TCGA novel 434 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 445 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389449231
COSM1748822
rs1285684867
445 D>N Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA389449240
rs1268646280
446 M>V No ClinGen
gnomAD
rs1181892852
CA389449297
453 S>L No ClinGen
gnomAD
rs112080225
CA258827952
455 M>I No ClinGen
Ensembl
TCGA novel 461 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389449377
rs1375783172
464 K>R No ClinGen
gnomAD
TCGA novel 465 M>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389449460
rs1317718089
475 G>R No ClinGen
TOPMed
CA258828539
rs868421346
478 A>V No ClinGen
Ensembl
rs1330987192
CA389449496
479 G>R No ClinGen
gnomAD
rs1237050599
CA389449513
481 Q>H No ClinGen
gnomAD
CA258828541
rs1017147449
481 Q>R No ClinGen
TOPMed
CA389449555
rs1595021550
487 F>V No ClinGen
Ensembl
CA258828543
rs77182768
488 Q>* No ClinGen
Ensembl
rs1566659197
CA389449585
491 A>T No ClinGen
Ensembl
rs963308198
CA258828546
492 A>S No ClinGen
TOPMed
CA389449606
rs1312140320
494 N>K No ClinGen
gnomAD
rs751720012
CA7153883
495 M>I No ClinGen
ExAC
gnomAD
CA7153881
rs757124156
495 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs766463902
CA7153882
495 M>T No ClinGen
ExAC
gnomAD
CA389449609
rs757124156
495 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1253304288
CA389449626
497 G>A No ClinGen
gnomAD
CA389449633
rs1469477813
498 M>K No ClinGen
gnomAD
CA389449641
rs1189261921
499 M>T No ClinGen
gnomAD
CA389449673
rs1190490251
503 N>K No ClinGen
TOPMed
gnomAD
CA7153884
rs755009516
503 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs781520127
CA7153885
504 M>V No ClinGen
ExAC
gnomAD

1 associated diseases with P61011

[MIM: 618752]: Neutropenia, severe congenital 8, autosomal dominant (SCN8)

A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269|PubMed:28972538, ECO:0000269|PubMed:29914977, ECO:0000269|PubMed:34020957}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269|PubMed:28972538, ECO:0000269|PubMed:29914977, ECO:0000269|PubMed:34020957}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P61011

Type Name Position InterPro Accession
conserved_site Serpin, conserved site 435 - 445 IPR023795
domain Serpin domain 87 - 462 IPR023796
domain Antithrombin-III, serpin domain 71 - 464 IPR033829

Functions

Description
EC Number 3.6.5.4 Acting on GTP; involved in cellular and subcellular movement
Subcellular Localization
  • Nucleus speckle
  • Cytoplasm
  • Endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 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.
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).
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
signal recognition particle, endoplasmic reticulum targeting A ribonucleoprotein particle of 325 kDa composed of a 7S (300 nucleotide) RNA molecule and a complex of six different polypeptides. This binds both to the N-terminal signal peptide for proteins destined for the endoplasmic reticulum as they emerge from the large ribosomal subunit and also to the ribosome. This binding arrests further translation thereby preventing the proteins from being released into the cytosol. The SRP-ribosome complex then diffuses to the endoplasmic reticulum where it is bound to the signal recognition particle receptor, which allows resumption of protein synthesis and facilitates the passage of the growing polypeptide chain through the translocon. Through a process involving GTP hydrolysis, the SRP-SRP receptor complex dissociates and SRP returns to the cytosol. Of the six polypeptides of SRP the 54 kDa subunit (SRP54) is the central player. It contains an N-terminal GTPase domain and a C-terminal domain that binds directly to the signal peptide and the SRP RNA. Examples of this component are found in Mus musculus, Saccharomyces cerevisiae and Arabidopsis thaliana.

7 GO annotations of molecular function

Name Definition
7S RNA binding Binding to a 7S RNA, the RNA component of the signal recognition particle (SRP).
endoplasmic reticulum signal peptide binding Binding to an endoplasmic reticulum signal peptide, a specific peptide sequence that acts as a signal to localize the protein within the endoplasmic reticulum.
GDP binding Binding to GDP, guanosine 5'-diphosphate.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
ribonucleoprotein complex binding Binding to a complex of RNA and protein.
RNA binding Binding to an RNA molecule or a portion thereof.

7 GO annotations of biological process

Name Definition
exocrine pancreas development The process whose specific outcome is the progression of the exocrine pancreas over time, from its formation to the mature structure. The exocrine pancreas produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells.
granulocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils.
neutrophil chemotaxis The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.
protein targeting to ER The process of directing proteins towards the endoplasmic reticulum (ER) using signals contained within the protein. One common mechanism uses a 16- to 30-residue signal sequence, typically located at the N-terminus of the protein and containing positively charged amino acids followed by a continuous stretch of hydrophobic residues, which directs the ribosome to the ER membrane and initiates transport of the growing polypeptide across the ER membrane.
SRP-dependent cotranslational protein targeting to membrane The targeting of proteins to a membrane that occurs during translation and is dependent upon two key components, the signal-recognition particle (SRP) and the SRP receptor. SRP is a cytosolic particle that transiently binds to the endoplasmic reticulum (ER) signal sequence in a nascent protein, to the large ribosomal unit, and to the SRP receptor in the ER membrane.
SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition The process in which SRP binds to the signal peptide in a nascent protein, causing protein elongation to pause, during cotranslational membrane targeting.
SRP-dependent cotranslational protein targeting to membrane, translocation The process during cotranslational membrane targeting wherein proteins move across a membrane. SRP and its receptor initiate the transfer of the nascent chain across the endoplasmic reticulum (ER) membrane; they then dissociate from the chain, which is transferred to a set of transmembrane proteins, collectively called the translocon. Once the nascent chain translocon complex is assembled, the elongating chain passes directly from the large ribosomal subunit into the centers of the translocon, a protein-lined channel within the membrane. The growing chain is never exposed to the cytosol and does not fold until it reaches the ER lumen.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P20424 SRP54 Signal recognition particle subunit SRP54 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q2T9U1 SRP54 Signal recognition particle 54 kDa protein Bos taurus (Bovine) PR
P61010 SRP54 Signal recognition particle 54 kDa protein Canis lupus familiaris (Dog) (Canis familiaris) PR
P14576 Srp54 Signal recognition particle 54 kDa protein Mus musculus (Mouse) PR
Q6AYB5 Srp54 Signal recognition particle 54 kDa protein Rattus norvegicus (Rat) PR
P37107 FFC Signal recognition particle 54 kDa protein, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
P49966 SRP-54B Signal recognition particle 54 kDa protein 2 Arabidopsis thaliana (Mouse-ear cress) PR
P49972 Signal recognition particle 54 kDa protein 2 Solanum lycopersicum (Tomato) (Lycopersicon esculentum) PR
P49971 Signal recognition particle 54 kDa protein 1 Solanum lycopersicum (Tomato) (Lycopersicon esculentum) PR
10 20 30 40 50 60
MVLADLGRKI TSALRSLSNA TIINEEVLNA MLKEVCTALL EADVNIKLVK QLRENVKSAI
70 80 90 100 110 120
DLEEMASGLN KRKMIQHAVF KELVKLVDPG VKAWTPTKGK QNVIMFVGLQ GSGKTTTCSK
130 140 150 160 170 180
LAYYYQRKGW KTCLICADTF RAGAFDQLKQ NATKARIPFY GSYTEMDPVI IASEGVEKFK
190 200 210 220 230 240
NENFEIIIVD TSGRHKQEDS LFEEMLQVAN AIQPDNIVYV MDASIGQACE AQAKAFKDKV
250 260 270 280 290 300
DVASVIVTKL DGHAKGGGAL SAVAATKSPI IFIGTGEHID DFEPFKTQPF ISKLLGMGDI
310 320 330 340 350 360
EGLIDKVNEL KLDDNEALIE KLKHGQFTLR DMYEQFQNIM KMGPFSQILG MIPGFGTDFM
370 380 390 400 410 420
SKGNEQESMA RLKKLMTIMD SMNDQELDST DGAKVFSKQP GRIQRVARGS GVSTRDVQEL
430 440 450 460 470 480
LTQYTKFAQM VKKMGGIKGL FKGGDMSKNV SQSQMAKLNQ QMAKMMDPRV LHHMGGMAGL
490 500
QSMMRQFQQG AAGNMKGMMG FNNM