P17612
PR
Gene name |
PRKACA (PKACA) |
Protein name |
cAMP-dependent protein kinase catalytic subunit alpha |
Names |
PKA C-alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5566 |
EC number |
2.7.11.11: Protein-serine/threonine kinases |
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
184-204 (Activation loop from InterPro)
Target domain |
44-298 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
49 structures for P17612
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2GU8 | X-ray | 220 A | A | 15-351 | PDB |
| 3AGL | X-ray | 210 A | A/B | 1-351 | PDB |
| 3AGM | X-ray | 200 A | A | 1-351 | PDB |
| 3AMA | X-ray | 175 A | A | 1-351 | PDB |
| 3AMB | X-ray | 225 A | A | 1-351 | PDB |
| 3L9L | X-ray | 200 A | A/B | 1-351 | PDB |
| 3L9M | X-ray | 190 A | A/B | 1-351 | PDB |
| 3L9N | X-ray | 200 A | A | 1-351 | PDB |
| 3MVJ | X-ray | 249 A | A/B/E | 1-351 | PDB |
| 3NX8 | X-ray | 200 A | A | 1-351 | PDB |
| 3OOG | X-ray | 200 A | A | 1-351 | PDB |
| 3OVV | X-ray | 158 A | A | 1-351 | PDB |
| 3OWP | X-ray | 188 A | A | 1-351 | PDB |
| 3OXT | X-ray | 220 A | A | 1-351 | PDB |
| 3P0M | X-ray | 203 A | A | 1-351 | PDB |
| 3POO | X-ray | 160 A | A | 1-351 | PDB |
| 3VQH | X-ray | 195 A | A | 1-351 | PDB |
| 4AE6 | X-ray | 210 A | A/B | 16-351 | PDB |
| 4AE9 | X-ray | 230 A | A/B | 16-351 | PDB |
| 4UJ1 | X-ray | 177 A | A | 1-351 | PDB |
| 4UJ2 | X-ray | 202 A | A | 1-351 | PDB |
| 4UJ9 | X-ray | 187 A | A | 1-351 | PDB |
| 4UJA | X-ray | 193 A | A | 1-351 | PDB |
| 4UJB | X-ray | 195 A | A | 1-351 | PDB |
| 4WB5 | X-ray | 164 A | A | 2-351 | PDB |
| 4WB6 | X-ray | 210 A | A/B | 2-351 | PDB |
| 4WB7 | X-ray | 190 A | A/B | 16-351 | PDB |
| 4WB8 | X-ray | 155 A | A | 16-351 | PDB |
| 5BX6 | X-ray | 189 A | A | 1-351 | PDB |
| 5BX7 | X-ray | 189 A | A | 1-350 | PDB |
| 5IZF | X-ray | 210 A | A | 1-351 | PDB |
| 5IZJ | X-ray | 185 A | A/B | 1-351 | PDB |
| 5J5X | X-ray | 260 A | A | 1-351 | PDB |
| 5N23 | X-ray | 209 A | A | 1-351 | PDB |
| 5UZK | X-ray | 230 A | A | 1-351 | PDB |
| 6BYR | X-ray | 366 A | A/C | 16-351 | PDB |
| 6BYS | X-ray | 475 A | A/C/E/G | 2-351 | PDB |
| 6C0U | X-ray | 265 A | A | 1-351 | PDB |
| 6FRX | X-ray | 188 A | A | 1-351 | PDB |
| 6NO7 | X-ray | 355 A | A/C/E/G | 2-351 | PDB |
| 6QJ7 | X-ray | 169 A | A | 1-351 | PDB |
| 6WJF | EM | 750 A | A/B | 16-351 | PDB |
| 6WJG | EM | 620 A | A/B | 16-351 | PDB |
| 7Y1G | X-ray | 230 A | A/B | 1-351 | PDB |
| 8FE2 | X-ray | 234 A | A/B | 16-351 | PDB |
| 8FE5 | X-ray | 251 A | A/B | 16-351 | PDB |
| 8FEC | X-ray | 270 A | A/B | 16-351 | PDB |
| 8X5L | X-ray | 275 A | A/B | 1-351 | PDB |
| AF-P17612-F1 | Predicted | AlphaFoldDB |
171 variants for P17612
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_085198 RCV002509646 RCV001271119 CA305611058 rs148280386 |
137 | G>R | Cardioacrofacial dysplasia 1 CAFD1; decreased interaction with regulatory subunit PRKAR2B [ClinVar, UniProt] | Yes |
ClinGen ClinVar ESP dbSNP UniProt |
|
RCV000149856 rs724160013 |
199 | L>W | Pigmented nodular adrenocortical disease, primary, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000122662 rs386352352 VAR_071707 CA215006 RCV000119834 RCV002508139 |
206 | L>R | ACTH-independent adrenal Cushing syndrome, somatic Pigmented nodular adrenocortical disease, primary, 4 PPNAD4; somatic mutation; the mutation results in cAMP-independent basal protein kinase activity and constitutive activation of protein kinase A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA404391306 rs1349121575 |
6 | A>T | No |
ClinGen TOPMed |
|
|
CA404391219 rs1299646385 |
11 | S>G | No |
ClinGen TOPMed |
|
|
rs1186778985 CA404391180 |
13 | Q>H | No |
ClinGen gnomAD |
|
|
CA404391170 rs1440443020 |
14 | E>* | No |
ClinGen gnomAD |
|
|
rs546895409 CA305623089 |
15 | S>N | No |
ClinGen gnomAD |
|
|
CA404391134 rs1258058169 |
16 | V>L | No |
ClinGen gnomAD |
|
|
CA305615411 rs1047760101 |
24 | K>E | No |
ClinGen Ensembl |
|
|
CA305615401 rs878994993 |
28 | L>P | No |
ClinGen Ensembl |
|
|
rs1235348761 CA404387970 |
30 | K>R | No |
ClinGen Ensembl |
|
|
rs760954437 CA9249485 |
32 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9249483 rs142045517 |
35 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9249482 rs748193038 |
36 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1325870574 CA404387545 |
37 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs762166548 CA9249445 |
38 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774495964 CA9249444 |
39 | A>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_040591 CA305614858 rs56029020 |
41 | L>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1296563330 CA404387387 |
42 | D>G | No |
ClinGen gnomAD |
|
|
rs1348252622 CA404387316 |
44 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9249442 rs56085217 VAR_040592 |
46 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1295773581 CA404387260 |
47 | I>L | No |
ClinGen gnomAD |
|
|
rs112360106 CA305614853 |
50 | L>H | No |
ClinGen Ensembl |
|
|
rs112360106 CA305614848 |
50 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 51 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746814323 CA9249436 |
57 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404386949 rs1599345287 |
58 | V>G | No |
ClinGen Ensembl |
|
|
CA404386888 rs1193485795 |
61 | V>M | No |
ClinGen gnomAD |
|
|
rs777520540 CA9249435 |
62 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs758020326 CA9249434 |
64 | K>R | No |
ClinGen ExAC |
|
|
rs747669394 CA9249432 |
65 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9249430 rs201769960 |
66 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9249431 rs201769960 |
66 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1257181388 CA404386768 |
66 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9249427 rs757565596 CA305614803 |
67 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9249425 rs201225070 |
70 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9249424 rs764342858 |
72 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1232863609 CA404386656 |
72 | M>V | No |
ClinGen gnomAD |
|
|
CA9249422 rs369286962 |
76 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9249421 rs765305631 |
78 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA404384733 COSM438715 rs1440498804 |
83 | L>P | Variant assessed as Somatic; 0.0 impact. liver breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9249394 rs376284068 |
88 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773821844 CA9249393 |
89 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9249392 rs768324869 |
91 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs748763072 CA9249391 COSM991822 |
94 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9249390 rs779586629 COSM3388638 |
94 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1415073408 CA404384295 |
101 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 101 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404384224 rs747585702 COSM302991 |
102 | P>L | Variant assessed as Somatic; impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9249388 rs747585702 |
102 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA404384214 rs1367599011 |
103 | F>L | No |
ClinGen TOPMed |
|
|
CA9249386 rs758631881 |
104 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404384169 rs1162613748 |
105 | V>A | No |
ClinGen gnomAD |
|
|
rs1408895901 CA404384177 |
105 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1750679 rs766631376 CA9249381 |
108 | E>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9249354 rs369058901 |
114 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373004763 CA404383568 |
116 | N>D | No |
ClinGen gnomAD |
|
|
rs1005719030 CA305611098 |
116 | N>I | No |
ClinGen gnomAD |
|
|
rs775066482 CA9249353 |
118 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1445705058 CA404383506 |
118 | Y>H | No |
ClinGen gnomAD |
|
|
CA9249351 rs758933458 |
119 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA404383230 rs1254121699 |
127 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 128 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404383173 rs1365553378 |
128 | E>V | No |
ClinGen TOPMed |
|
|
CA404383079 rs1456697242 |
132 | H>Y | No |
ClinGen gnomAD |
|
|
CA9249347 rs775000520 |
134 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9249345 rs749688339 |
135 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769081071 CA9249346 |
135 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs756398151 CA9249343 |
138 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA404382897 rs1599339746 |
139 | F>V | No |
ClinGen Ensembl |
|
|
CA9249319 rs758375271 |
143 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1408507292 CA404381564 |
145 | R>C | No |
ClinGen gnomAD |
|
|
COSM991819 CA404381559 rs1476015355 |
145 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1476015355 CA404381542 |
145 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778829250 CA9249317 |
148 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1192231636 COSM1221993 CA404381492 |
148 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 148 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145751355 CA404381377 |
151 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404381376 rs1271103680 |
152 | V>I | No |
ClinGen gnomAD |
|
|
rs765966838 CA9249314 |
154 | T>N | No |
ClinGen ExAC |
|
|
rs1176807487 CA404381290 |
155 | F>L | No |
ClinGen gnomAD |
|
|
rs1356259799 CA404381279 |
155 | F>L | No |
ClinGen gnomAD |
|
|
rs749992796 CA9249312 |
156 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1182215017 CA404381172 |
159 | H>R | No |
ClinGen TOPMed |
|
|
CA9249308 rs537279998 |
173 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs969622384 CA305609005 |
175 | I>M | No |
ClinGen gnomAD |
|
|
rs776865039 CA9249306 |
175 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1462309155 CA404380774 |
175 | I>V | No |
ClinGen gnomAD |
|
|
rs771089857 CA9249305 |
177 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201595411 CA9249304 |
178 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs142007512 CA9249302 |
181 | I>V | No |
ClinGen ESP ExAC |
|
|
CA404380561 rs1187029155 |
182 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 185 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354690571 CA404379743 |
187 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA305608888 rs11541563 |
187 | G>V | No |
ClinGen Ensembl |
|
|
rs767755931 CA9249266 |
189 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761845520 CA9249265 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9249264 rs774340605 |
191 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372210586 CA9249262 |
192 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA305608860 rs777156218 |
195 | R>H | No |
ClinGen Ensembl |
|
|
rs1307219514 CA404379576 |
197 | W>* | No |
ClinGen gnomAD |
|
|
CA404379585 CA404379584 rs1336753127 COSM1480670 |
197 | W>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404379518 rs1314245722 |
201 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404379459 rs1190970609 |
207 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 208 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 213 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746506291 CA9249256 |
213 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1187481745 CA404379389 |
213 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404379385 rs1474389576 |
214 | K>E | No |
ClinGen gnomAD |
|
|
rs750769824 CA9249229 |
217 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1599336110 CA404379035 |
227 | V>G | No |
ClinGen Ensembl |
|
|
CA305608695 rs965309476 |
229 | I>M | No |
ClinGen TOPMed |
|
|
rs1325169585 CA404378914 |
232 | M>I | No |
ClinGen gnomAD |
|
|
CA305608688 rs1019505614 |
234 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9249222 rs765243751 |
241 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404378749 rs1486515892 |
242 | D>N | No |
ClinGen gnomAD |
|
|
CA404378681 rs1240569132 |
244 | P>S | No |
ClinGen TOPMed |
|
|
CA9249218 rs760535486 |
252 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9249178 rs773941420 |
257 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763766541 CA9249177 |
257 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404377569 rs1286167086 |
258 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404377499 rs1228786170 |
262 | F>C | No |
ClinGen gnomAD |
|
|
CA9249176 rs762420208 |
262 | F>I | No |
ClinGen ExAC |
|
|
CA9249174 VAR_040593 rs35635531 |
264 | S>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs775116225 CA9249175 |
264 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483693073 CA404377393 |
269 | L>M | No |
ClinGen TOPMed |
|
|
rs1248937239 CA404377366 |
271 | R>Q | No |
ClinGen TOPMed |
|
|
CA404377369 rs1179462944 |
271 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404377283 rs761312324 |
276 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9249173 rs761312324 |
276 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 278 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9249171 rs772509949 |
283 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461258646 CA404377100 |
286 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404377049 rs1162385281 |
290 | N>H | No |
ClinGen gnomAD |
|
|
CA9249169 rs779240866 |
290 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749362012 CA9249167 |
292 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371208768 CA404376996 |
293 | K>R | No |
ClinGen TOPMed |
|
|
CA404376891 rs1392566426 |
300 | T>A | No |
ClinGen gnomAD |
|
|
rs1299799785 CA404376873 |
301 | T>S | No |
ClinGen TOPMed |
|
|
rs1394170561 CA404376869 |
301 | T>S | No |
ClinGen TOPMed |
|
|
CA9249166 rs756149376 |
302 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA404376863 rs1390607089 |
302 | D>N | No |
ClinGen TOPMed |
|
|
rs750316086 CA9249164 |
305 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs187770246 CA9249161 |
309 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404375854 rs1371926901 |
311 | V>E | No |
ClinGen gnomAD |
|
|
rs1279292090 CA404375808 |
313 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169133050 CA404375795 |
314 | P>T | No |
ClinGen gnomAD |
|
|
CA404375764 rs1248411797 |
315 | F>C | No |
ClinGen TOPMed |
|
|
rs1358800512 CA404375749 |
316 | I>T | No |
ClinGen TOPMed |
|
|
CA404375754 rs1313095850 |
316 | I>V | No |
ClinGen TOPMed |
|
|
CA9249141 rs752340563 |
318 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA305603996 rs149832080 |
319 | F>L | No |
ClinGen ESP |
|
|
CA9249140 rs373941966 |
321 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9249139 rs759051524 |
324 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1175740405 CA404375578 |
325 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1210260976 CA404375396 |
330 | D>N | No |
ClinGen gnomAD |
|
|
rs377316394 CA9249133 |
337 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM246777 rs573921316 CA305603923 |
337 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9249132 rs775739774 |
341 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9249131 rs769948900 |
342 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404374946 rs1351799282 |
344 | C>R | No |
ClinGen gnomAD |
|
|
rs745937862 CA9249130 |
345 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1461521338 CA404374837 |
347 | E>D | No |
ClinGen TOPMed |
|
|
CA404374796 rs1185042638 |
348 | F>L | No |
ClinGen TOPMed |
|
|
CA9249129 rs141087932 |
349 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746884607 CA9249127 |
350 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770850404 CA9249128 |
350 | E>K | No |
ClinGen ExAC gnomAD |
2 associated diseases with P17612
[MIM: 615830]: Primary pigmented nodular adrenocortical disease 4 (PPNAD4)
A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269|PubMed:24571724, ECO:0000269|PubMed:24700472, ECO:0000269|PubMed:24747643, ECO:0000269|PubMed:24855271}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619142]: Cardioacrofacial dysplasia 1 (CAFD1)
An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. {ECO:0000269|PubMed:33058759}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269|PubMed:24571724, ECO:0000269|PubMed:24700472, ECO:0000269|PubMed:24747643, ECO:0000269|PubMed:24855271}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. {ECO:0000269|PubMed:33058759}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 regional properties for P17612
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 629 - 853 | IPR003439-1 |
| domain | ABC transporter-like, ATP-binding domain | 1265 - 1499 | IPR003439-2 |
| domain | AAA+ ATPase domain | 655 - 845 | IPR003593-1 |
| domain | AAA+ ATPase domain | 1291 - 1478 | IPR003593-2 |
| domain | ABC transporter type 1, transmembrane domain | 312 - 593 | IPR011527-1 |
| domain | ABC transporter type 1, transmembrane domain | 948 - 1228 | IPR011527-2 |
| conserved_site | ABC transporter-like, conserved site | 753 - 767 | IPR017871-1 |
| conserved_site | ABC transporter-like, conserved site | 1402 - 1416 | IPR017871-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.11 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
20 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| calcium channel complex | An ion channel complex through which calcium ions pass. |
| cAMP-dependent protein kinase complex | An enzyme complex, composed of regulatory and catalytic subunits, that catalyzes protein phosphorylation. Inactive forms of the enzyme have two regulatory chains and two catalytic chains; activation by cAMP produces two active catalytic monomers and a regulatory dimer. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary base | Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area. |
| 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. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleotide-activated protein kinase complex | A protein complex that possesses nucleotide-dependent protein kinase activity. The nucleotide can be AMP (in S. pombe and human) or ADP (in S. cerevisiae). |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane raft | A membrane raft that is part of the plasma membrane. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
| sperm midpiece | The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece. |
13 GO annotations of molecular function
| Name | Definition |
|---|---|
| AMP-activated protein kinase activity | Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires the presence of AMP. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cAMP-dependent protein kinase activity | cAMP-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| manganese ion binding | Binding to a manganese ion (Mn). |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein kinase A regulatory subunit binding | Binding to one or both of the regulatory subunits of protein kinase A. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
37 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium-mediated signaling using intracellular calcium source | The series of molecular signals in which a cell uses calcium ions released from an intracellular store to convert a signal into a response. |
| cell communication by electrical coupling involved in cardiac conduction | The process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels and contributes to the process of cardiac conduction. |
| cellular response to cold | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism. |
| cellular response to epinephrine stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epinephrine stimulus. Epinephrine is a catecholamine that has the formula C9H13NO3; it is secreted by the adrenal medulla to act as a hormone, and released by certain neurons to act as a neurotransmitter active in the central nervous system. |
| cellular response to glucose stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
| cellular response to heat | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| cellular response to parathyroid hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a parathyroid hormone stimulus. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| high-density lipoprotein particle assembly | The non-covalent aggregation and arrangement of proteins and lipids to form a high-density lipoprotein particle. |
| mesoderm formation | The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. |
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning | Any process that stops, prevents or reduces the frequency, rate or extent of smoothened signaling pathway involved in dorsal/ventral neural tube patterning. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of protein export from nucleus | Any process that activates or increases the frequency, rate or extent of directed movement of proteins from the nucleus into the cytoplasm. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein export from nucleus | The directed movement of a protein from the nucleus into the cytoplasm. |
| protein kinase A signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase A, which occurs as a result of a single trigger reaction or compound. |
| protein localization to lipid droplet | A process in which a protein is transported to, or maintained in, a location on or within a lipid droplet. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of bicellular tight junction assembly | Any process that modulates the frequency, rate or extent of tight junction assembly. |
| regulation of cardiac conduction | Any process that modulates the frequency, rate or extent of cardiac conduction. |
| regulation of cardiac muscle contraction | Any process that modulates the frequency, rate or extent of cardiac muscle contraction. |
| regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion | Any process that modulates the frequency, rate or extent of cardiac muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cytosolic calcium ion concentration | Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of macroautophagy | Any process that modulates the frequency, rate or extent of macroautophagy. |
| regulation of osteoblast differentiation | Any process that modulates the frequency, rate or extent of osteoblast differentiation. |
| regulation of proteasomal protein catabolic process | Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome. |
| regulation of protein binding | Any process that modulates the frequency, rate or extent of protein binding. |
| regulation of protein processing | Any process that modulates the frequency, rate or extent of protein processing, a protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. |
| regulation of ryanodine-sensitive calcium-release channel activity | Any process that modulates the activity of a ryanodine-sensitive calcium-release channel. The ryanodine-sensitive calcium-release channel catalyzes the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts. |
| renal water homeostasis | Renal process involved in the maintenance of an internal steady state of water in the body. |
| sperm capacitation | A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P00517 | PRKACA | cAMP-dependent protein kinase catalytic subunit alpha | Bos taurus (Bovine) | PR |
| Q8MJ44 | PRKACA | cAMP-dependent protein kinase catalytic subunit alpha | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| Q03043 | for | cGMP-dependent protein kinase, isozyme 2 forms cD4/T1/T3A/T3B | Drosophila melanogaster (Fruit fly) | SS |
| P16911 | Pka-C2 | cAMP-dependent protein kinase catalytic subunit 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q13237 | PRKG2 | cGMP-dependent protein kinase 2 | Homo sapiens (Human) | PR |
| Q13976 | PRKG1 | cGMP-dependent protein kinase 1 | Homo sapiens (Human) | EV |
| Q922R0 | Prkx | cAMP-dependent protein kinase catalytic subunit PRKX | Mus musculus (Mouse) | PR |
| P05132 | Prkaca | cAMP-dependent protein kinase catalytic subunit alpha | Mus musculus (Mouse) | PR |
| P36887 | PRKACA | cAMP-dependent protein kinase catalytic subunit alpha | Sus scrofa (Pig) | PR |
| O62846 | PRKACG | cAMP-dependent protein kinase catalytic subunit gamma | Macaca mulatta (Rhesus macaque) | PR |
| Q7JP68 | F47F2.1 | cAMP-dependent protein kinase, catalytic subunit-like | Caenorhabditis elegans | PR |
| P21137 | kin-1 | cAMP-dependent protein kinase catalytic subunit | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGNAAAAKKG | SEQESVKEFL | AKAKEDFLKK | WESPAQNTAH | LDQFERIKTL | GTGSFGRVML |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VKHKETGNHY | AMKILDKQKV | VKLKQIEHTL | NEKRILQAVN | FPFLVKLEFS | FKDNSNLYMV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MEYVPGGEMF | SHLRRIGRFS | EPHARFYAAQ | IVLTFEYLHS | LDLIYRDLKP | ENLLIDQQGY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IQVTDFGFAK | RVKGRTWTLC | GTPEYLAPEI | ILSKGYNKAV | DWWALGVLIY | EMAAGYPPFF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADQPIQIYEK | IVSGKVRFPS | HFSSDLKDLL | RNLLQVDLTK | RFGNLKNGVN | DIKNHKWFAT |
| 310 | 320 | 330 | 340 | 350 | |
| TDWIAIYQRK | VEAPFIPKFK | GPGDTSNFDD | YEEEEIRVSI | NEKCGKEFSE | F |