P61011
Gene name |
SRP54 |
Protein name |
Signal recognition particle 54 kDa protein |
Names |
SRP54 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6729 |
EC number |
3.6.5.4: Acting on GTP; involved in cellular and subcellular movement |
Protein Class |
|
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.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.5.4 | Acting on GTP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| 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 |