P00540
PR
Gene name |
MOS |
Protein name |
Proto-oncogene serine/threonine-protein kinase mos |
Names |
Oocyte maturation factor mos, Proto-oncogene c-Mos |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4342 |
EC number |
2.7.11.1: 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
218-244 (Activation loop from InterPro)
Target domain |
60-341 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for P00540
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P00540-F1 | Predicted | AlphaFoldDB |
313 variants for P00540
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4754764 rs754317088 |
2 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 3 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753171416 CA4754761 |
8 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4754760 rs767826217 |
9 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA371290985 rs1351997605 |
11 | L>F | No |
ClinGen TOPMed |
|
|
CA177288418 rs942298449 |
11 | L>R | No |
ClinGen Ensembl |
|
|
rs753117912 CA177288412 |
12 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4754759 rs753117912 |
12 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393758016 CA371290970 |
13 | S>R | No |
ClinGen gnomAD |
|
|
CA371290967 rs1166776994 |
14 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371290966 rs1166776994 |
14 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs983672842 CA177288391 |
14 | E>Q | No |
ClinGen Ensembl |
|
|
CA177288388 rs938837009 |
15 | F>S | No |
ClinGen TOPMed |
|
|
CA4754756 rs142302263 |
17 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1183973005 CA371290939 |
18 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4754754 rs768636032 |
20 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1585745158 CA371290928 |
20 | D>G | No |
ClinGen Ensembl |
|
|
rs1040478986 CA371290921 |
21 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA371290925 rs1309118746 |
21 | A>T | No |
ClinGen gnomAD |
|
|
COSM1257881 rs1040478986 CA177288374 |
21 | A>V | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1271434452 CA371290920 |
22 | R>G | No |
ClinGen gnomAD |
|
|
rs775300184 CA4754752 |
24 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754750 rs745477677 |
26 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371290878 rs1237578534 |
28 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1409265884 CA371290847 |
33 | K>R | No |
ClinGen TOPMed |
|
|
CA4754749 rs773891252 |
34 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371290832 rs35215998 |
36 | L>M | No |
ClinGen TOPMed |
|
|
CA371290828 rs1585745109 |
36 | L>R | No |
ClinGen Ensembl |
|
|
CA371290827 rs1327630215 |
37 | G>R | No |
ClinGen gnomAD |
|
|
CA371290817 rs1396226288 |
38 | A>D | No |
ClinGen gnomAD |
|
|
rs770409554 CA4754748 |
38 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754747 rs748818716 |
39 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778411090 CA4754746 |
39 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778411090 CA371290814 |
39 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756734858 CA4754745 |
40 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA371290802 rs1160051840 |
41 | P>L | No |
ClinGen gnomAD |
|
|
rs781648605 CA4754743 |
42 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148746772 CA4754744 |
42 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371290794 rs1194350920 |
43 | A>V | No |
ClinGen gnomAD |
|
|
CA4754741 rs751736206 |
44 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751736206 CA371290789 |
44 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754740 rs751736206 |
44 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444910904 CA371290790 |
44 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs956206176 CA177288262 |
45 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203706624 CA371290771 |
48 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA371290770 rs919475769 |
48 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA177288251 rs919475769 |
48 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1475079043 CA371290765 |
49 | R>Q | No |
ClinGen TOPMed |
|
|
rs758487537 CA4754738 |
51 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754737 rs758487537 |
51 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371290750 rs1391870207 |
52 | W>S | No |
ClinGen TOPMed |
|
|
CA371290745 rs1585745014 |
53 | C>G | No |
ClinGen Ensembl |
|
|
rs750549456 CA4754736 |
53 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4754735 rs144702322 |
55 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439756992 CA371290726 |
56 | D>N | No |
ClinGen gnomAD |
|
|
CA177288235 rs866557250 |
57 | W>* | No |
ClinGen Ensembl |
|
|
rs753530437 CA177288239 |
57 | W>G | No |
ClinGen gnomAD |
|
|
rs753530437 CA371290717 |
57 | W>R | No |
ClinGen gnomAD |
|
|
rs1172732244 CA371290705 |
58 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371290707 rs1585744999 |
58 | E>G | No |
ClinGen Ensembl |
|
|
rs760569661 CA4754734 |
58 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4754731 rs759257270 |
60 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4754732 rs767289078 |
60 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA582403153 rs1393392756 |
61 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4754728 rs748811647 |
65 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs772890185 CA4754727 |
67 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1281476224 CA371290650 |
67 | G>V | No |
ClinGen gnomAD |
|
|
rs1277610043 CA371290641 |
69 | G>R | No |
ClinGen gnomAD |
|
|
CA371290636 rs1218073747 |
69 | G>V | No |
ClinGen gnomAD |
|
|
CA371290632 rs955249111 |
70 | G>A | No |
ClinGen gnomAD |
|
|
CA177288177 rs955249111 |
70 | G>E | No |
ClinGen gnomAD |
|
|
rs1271643279 CA371290633 |
70 | G>W | No |
ClinGen gnomAD |
|
|
CA4754725 rs748606683 |
71 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA371290628 rs1313232926 |
71 | F>V | No |
ClinGen gnomAD |
|
|
rs748606683 CA371290627 |
71 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781765618 CA4754724 |
72 | G>V | No |
ClinGen ExAC |
|
| TCGA novel | 72 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371290613 rs1173106039 |
73 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747386334 CA4754722 |
74 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA177288166 rs747386334 |
74 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754720 rs758586487 |
75 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4754721 COSM3728167 rs780296508 |
75 | Y>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1258703450 CA371290599 |
76 | K>T | No |
ClinGen gnomAD |
|
|
rs1484987646 CA371290593 |
77 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA177288149 rs1003894136 |
78 | T>I | No |
ClinGen Ensembl |
|
|
CA371290573 rs1257355578 |
80 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1100654 CA371290572 rs1563358024 |
80 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs552123421 CA4754717 |
81 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4754716 rs752568092 |
83 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4754715 rs767422321 |
84 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs969068314 CA177288133 |
84 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4754714 rs759362843 |
92 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs774064952 CA4754713 |
95 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754711 VAR_040813 rs34532635 |
96 | R>L | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4754712 rs34532635 |
96 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM2719486 CA177288100 rs1048011369 |
100 | R>Q | liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4754710 rs373661675 |
100 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371290446 rs1467336160 |
101 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4754707 rs777179743 |
104 | W>R | No |
ClinGen ExAC |
|
|
CA371290417 rs35392772 |
105 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35392772 CA4754706 VAR_040814 |
105 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA177288094 rs928821421 |
106 | E>K | No |
ClinGen Ensembl |
|
|
CA371290394 rs1481527760 |
108 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4754705 rs747365374 |
109 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1044569526 CA177288093 |
112 | L>P | No |
ClinGen Ensembl |
|
|
rs200951438 CA4754704 CA371290358 |
114 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4754702 rs746035809 |
115 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4754700 rs376785210 |
117 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371290332 rs1210131921 |
118 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371290333 rs1210131921 |
118 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1481890474 CA371290325 |
119 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371290330 rs1178340578 |
119 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781167645 CA177288054 |
120 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781167645 CA4754698 |
120 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4754697 rs754914458 |
121 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA371290306 rs1563357976 |
123 | A>D | No |
ClinGen Ensembl |
|
| VAR_040815 | 123 | A>T | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA177288048 rs760278351 |
125 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs760278351 CA371290292 |
125 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1270059931 CA371290285 |
126 | R>L | No |
ClinGen TOPMed |
|
|
rs766028889 CA4754695 |
127 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371290279 rs914676231 |
128 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA177288037 rs914676231 |
128 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4754694 rs762844655 |
129 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs750095075 CA4754693 |
130 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371290269 rs1375388557 |
130 | G>R | No |
ClinGen gnomAD |
|
|
rs1585744772 CA371290262 |
131 | S>A | No |
ClinGen Ensembl |
|
|
CA4754692 rs765039256 |
132 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1328247121 CA371290248 |
133 | S>N | No |
ClinGen gnomAD |
|
|
rs761381034 CA4754691 |
133 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4754689 rs368963717 |
135 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179335161 CA371290233 |
136 | T>A | No |
ClinGen TOPMed |
|
|
CA371290222 rs1174979822 |
137 | I>M | No |
ClinGen gnomAD |
|
|
CA4754687 rs776081262 |
140 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772358722 CA4754686 |
144 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA177287988 rs142291866 |
152 | Y>H | No |
ClinGen ESP TOPMed |
|
|
rs1160826537 CA371290113 |
153 | G>D | No |
ClinGen TOPMed |
|
|
rs546370933 CA4754684 |
154 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371290108 rs1466833665 |
154 | A>S | No |
ClinGen gnomAD |
|
|
rs1460417563 CA371290102 |
155 | A>G | No |
ClinGen TOPMed |
|
|
CA4754682 rs749358950 |
155 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371290104 rs749358950 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777676899 CA4754681 |
156 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4754679 rs751384600 |
157 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs561039574 CA371290087 |
158 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561039574 CA4754678 |
158 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289834156 CA371290077 |
159 | E>D | No |
ClinGen gnomAD |
|
|
CA4754677 rs758253167 |
159 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4754676 rs750288981 |
161 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA371290069 rs1327243350 |
161 | D>N | No |
ClinGen TOPMed |
|
|
rs764947261 CA4754675 |
162 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA177287953 rs986716211 |
163 | G>E | No |
ClinGen Ensembl |
|
|
CA4754674 rs761515530 |
163 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371290052 rs1395198705 |
164 | E>* | No |
ClinGen gnomAD |
|
|
CA4754673 rs753546945 |
165 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1452209435 CA371290029 |
167 | C>S | No |
ClinGen gnomAD |
|
|
CA371290023 rs1266153644 |
168 | R>C | No |
ClinGen gnomAD |
|
|
rs763458012 CA4754672 |
168 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1266153644 CA371290024 |
168 | R>S | No |
ClinGen gnomAD |
|
|
rs185687051 CA4754671 |
170 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371290011 rs185687051 |
170 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185687051 CA371290010 |
170 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4754670 rs751930901 |
172 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754669 rs376820512 |
172 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4754666 CA177287913 rs767623793 |
175 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371289973 rs1563357905 |
176 | G>E | No |
ClinGen Ensembl |
|
|
CA4754665 rs749423112 |
177 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs773486880 CA4754664 |
180 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769756297 CA4754663 |
180 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs769756297 CA371289947 |
180 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297935704 CA371289930 |
183 | L>I | No |
ClinGen gnomAD |
|
|
rs1250791475 CA371289911 |
186 | V>M | No |
ClinGen TOPMed |
|
|
rs943437335 CA177287893 |
188 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 190 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780117512 CA4754659 |
191 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA371289872 rs1464043817 |
192 | L>F | No |
ClinGen gnomAD |
|
|
CA371289862 rs1474615151 |
193 | H>Q | No |
ClinGen TOPMed |
|
|
CA4754658 rs758447455 |
194 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 196 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962831190 CA177287884 |
196 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 197 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778799399 CA4754656 |
197 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754655 rs757128773 |
198 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371289834 rs1192612279 |
198 | V>M | No |
ClinGen gnomAD |
|
|
rs930795508 CA177287868 |
199 | H>P | No |
ClinGen TOPMed |
|
|
CA177287864 rs919543361 |
200 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA177287860 rs761859165 |
202 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 203 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410747797 CA371289800 |
203 | K>R | No |
ClinGen TOPMed |
|
|
CA177287856 rs972725148 |
204 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM192657 rs1563357863 CA371289790 |
205 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4754654 rs753368455 |
208 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774225819 CA177287840 |
212 | Q>P | No |
ClinGen Ensembl |
|
|
CA4754652 rs372217648 |
213 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229938756 CA371289720 |
215 | C>R | No |
ClinGen gnomAD |
|
|
CA4754651 rs752304134 |
215 | C>Y | No |
ClinGen ExAC |
|
| TCGA novel | 217 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585744584 CA371289693 |
218 | S>R | No |
ClinGen Ensembl |
|
|
rs1277989140 CA371289677 |
220 | F>L | No |
ClinGen gnomAD |
|
|
CA371289670 rs1395573498 |
221 | G>V | No |
ClinGen TOPMed |
|
|
rs1323495937 COSM751129 CA371289654 |
224 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs766662365 CA4754647 |
227 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4754646 rs763439301 |
228 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA371289623 rs1395941665 |
228 | D>N | No |
ClinGen gnomAD |
|
|
CA371289617 rs1463225797 |
229 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371289598 rs1420953404 |
232 | F>L | No |
ClinGen gnomAD |
|
|
rs1255205781 CA371289591 |
233 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs770103239 CA4754644 |
234 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA177287788 rs980379116 |
235 | P>H | No |
ClinGen TOPMed |
|
|
rs1475451351 CA371289578 |
235 | P>S | No |
ClinGen gnomAD |
|
|
CA371289563 rs1585744536 |
237 | Y>S | No |
ClinGen Ensembl |
|
|
CA371289552 rs1441737317 |
239 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4754641 rs768876673 |
240 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs914978296 CA177287754 |
243 | Y>D | No |
ClinGen TOPMed |
|
|
rs111243120 CA4754640 |
243 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754639 rs779001626 |
244 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371289525 rs1585744520 |
244 | T>P | No |
ClinGen Ensembl |
|
|
rs1337476030 CA371289516 |
245 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1337476030 CA371289517 |
245 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768528104 CA4754637 |
246 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371289510 rs1563357810 |
246 | R>H | No |
ClinGen Ensembl |
|
|
rs768528104 CA4754636 |
246 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754635 rs368582895 |
247 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4754634 rs368582895 |
247 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371289502 rs1465724519 |
248 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1328968895 CA371289493 |
249 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 249 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392561997 CA371289489 |
250 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752055096 CA4754631 |
251 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA371289483 rs752055096 |
251 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1230403598 CA371289479 |
252 | K>Q | No |
ClinGen TOPMed |
|
|
CA371289472 rs1396464687 |
253 | G>R | No |
ClinGen gnomAD |
|
|
CA4754630 rs766928255 |
255 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754627 rs765547931 |
256 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA371289440 rs1437976296 |
258 | P>L | No |
ClinGen gnomAD |
|
|
CA371289441 rs1261521772 |
258 | P>S | No |
ClinGen gnomAD |
|
|
rs768786728 CA4754624 |
261 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs560574314 CA4754623 |
262 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371289392 rs1209560440 |
265 | F>S | No |
ClinGen gnomAD |
|
|
CA371289388 rs1257336364 |
266 | A>T | No |
ClinGen TOPMed |
|
|
CA4754621 rs770953539 |
268 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281846965 CA371289371 |
268 | T>I | No |
ClinGen gnomAD |
|
|
CA177287659 rs907434781 |
270 | W>C | No |
ClinGen Ensembl |
|
|
rs749009211 CA4754620 |
274 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA371289325 rs1187330411 |
275 | K>T | No |
ClinGen TOPMed |
|
|
CA4754618 rs769499852 |
277 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404476987 CA371289302 |
278 | P>L | No |
ClinGen gnomAD |
|
|
rs780887750 CA4754616 |
279 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA371289271 rs948923503 |
283 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs948923503 CA177287640 |
283 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1451752785 CA371289264 |
284 | Q>R | No |
ClinGen TOPMed |
|
|
rs1415814534 CA371289257 |
285 | H>R | No |
ClinGen gnomAD |
|
|
rs1194288942 CA371289260 |
285 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1389343846 CA371289248 |
286 | I>M | No |
ClinGen TOPMed |
|
|
rs141663927 CA4754614 |
286 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357838605 CA371289252 |
286 | I>V | No |
ClinGen gnomAD |
|
|
CA4754612 rs780394085 |
287 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1353569477 CA371289217 |
292 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765576386 CA4754609 |
293 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1585744348 CA371289201 |
294 | D>A | No |
ClinGen Ensembl |
|
|
rs201748033 CA4754607 |
296 | R>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs995057008 CA177287594 |
297 | P>A | No |
ClinGen TOPMed |
|
|
CA371289182 rs1272784704 |
297 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371289183 rs1272784704 |
297 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371289167 rs1326852879 |
300 | S>F | No |
ClinGen gnomAD |
|
|
rs56300224 VAR_040816 CA4754604 |
300 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4754602 rs772076903 |
303 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA371289137 rs1174348312 |
305 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1174348312 CA371289138 |
305 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371289113 rs1245417198 |
308 | L>P | No |
ClinGen TOPMed |
|
|
rs747992702 CA4754598 |
310 | G>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1552994 rs747992702 CA4754599 |
310 | G>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA371289099 rs1244227994 |
311 | Q>* | No |
ClinGen gnomAD |
|
|
rs746694820 CA4754595 |
312 | R>C | No |
ClinGen ExAC |
|
|
CA371289081 rs1163861344 |
314 | G>R | No |
ClinGen gnomAD |
|
|
rs757856887 CA4754592 |
316 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4754591 rs750872631 |
317 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA177287517 rs13277260 |
318 | Q>H | No |
ClinGen gnomAD |
|
|
CA371289057 rs1275864334 |
318 | Q>K | No |
ClinGen gnomAD |
|
|
rs1218317020 CA371289053 |
318 | Q>P | No |
ClinGen gnomAD |
|
|
CA4754589 rs757685018 |
319 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4754590 rs757685018 |
319 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216501188 CA371289041 |
320 | C>F | No |
ClinGen gnomAD |
|
|
rs754306244 CA4754588 |
321 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412779194 CA371289036 |
321 | W>G | No |
ClinGen TOPMed |
|
|
rs764384763 CA4754587 |
322 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA371289012 rs140662288 |
324 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4754585 rs752885822 |
325 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM301377 rs1421842842 CA371289006 |
325 | A>V | large_intestine Variant assessed as Somatic; 4.836e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371288980 rs1295038023 |
329 | P>R | No |
ClinGen TOPMed |
|
|
CA371288973 rs1227379753 |
330 | S>N | No |
ClinGen TOPMed |
|
|
CA4754581 rs765134341 |
331 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4754580 COSM1457578 rs761563451 |
332 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA4754578 rs776370431 |
335 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375091500 CA4754577 |
337 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371288934 rs375091500 |
337 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371288929 rs1208755165 |
338 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 341 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746602818 CA4754576 |
341 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259667603 CA371288906 |
342 | K>E | No |
ClinGen gnomAD |
|
|
CA371288900 rs1248819861 |
342 | K>N | No |
ClinGen TOPMed |
|
|
rs375628910 CA4754575 |
343 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs933967957 CA177287438 |
344 | E>D | No |
ClinGen gnomAD |
|
|
CA4754574 rs771603624 |
345 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371288881 rs1376827638 |
346 | G>R | No |
ClinGen gnomAD |
|
|
CA371288882 rs1376827638 |
346 | G>S | No |
ClinGen gnomAD |
No associated diseases with P00540
4 regional properties for P00540
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 96 - 384 | IPR000719 |
| conserved_site | Mitogen-activated protein (MAP) kinase, conserved site | 130 - 232 | IPR003527 |
| active_site | Serine/threonine-protein kinase, active site | 216 - 228 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 102 - 126 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| MAP kinase kinase kinase activity | Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases. |
| 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 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. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| establishment of meiotic spindle orientation | Any process that set the alignment of meiotic spindle relative to other cellular structures. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| meiotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a meiotic cell cycle. |
| negative regulation of metaphase/anaphase transition of meiotic cell cycle | Any process that stops, prevents or reduces the frequency, rate or extent of metaphase/anaphase transition of meiotic cell cycle. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| 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). |
| regulation of meiotic nuclear division | Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
38 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A2VDU3 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Bos taurus (Bovine) | SS |
| Q4TVR5 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Bos taurus (Bovine) | PR |
| Q3SZJ2 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Bos taurus (Bovine) | PR |
| Q6XUX0 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Gallus gallus (Chicken) | PR |
| P83104 | Takl1 | Putative mitogen-activated protein kinase kinase kinase 7-like | Drosophila melanogaster (Fruit fly) | PR |
| Q95UN8 | slpr | Mitogen-activated protein kinase kinase kinase | Drosophila melanogaster (Fruit fly) | EV |
| O43353 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Homo sapiens (Human) | PR |
| Q02779 | MAP3K10 | Mitogen-activated protein kinase kinase kinase 10 | Homo sapiens (Human) | SS |
| Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
| Q16584 | MAP3K11 | Mitogen-activated protein kinase kinase kinase 11 | Homo sapiens (Human) | EV |
| Q6XUX3 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Homo sapiens (Human) | PR |
| O43318 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Homo sapiens (Human) | SS |
| Q9NYL2 | MAP3K20 | Mitogen-activated protein kinase kinase kinase 20 | Homo sapiens (Human) | PR |
| Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
| P80192 | MAP3K9 | Mitogen-activated protein kinase kinase kinase 9 | Homo sapiens (Human) | SS |
| Q96J92 | WNK4 | Serine/threonine-protein kinase WNK4 | Homo sapiens (Human) | SS |
| Q5TCX8 | MAP3K21 | Mitogen-activated protein kinase kinase kinase 21 | Homo sapiens (Human) | PR |
| Q80XI6 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Mus musculus (Mouse) | PR |
| Q8VDG6 | Map3k21 | Mitogen-activated protein kinase kinase kinase 21 | Mus musculus (Mouse) | PR |
| P58801 | Ripk2 | Receptor-interacting serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
| Q62073 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Mus musculus (Mouse) | EV |
| Q3U1V8 | Map3k9 | Mitogen-activated protein kinase kinase kinase 9 | Mus musculus (Mouse) | SS |
| Q9D2Y4 | Mlkl | Mixed lineage kinase domain-like protein | Mus musculus (Mouse) | SS |
| Q9ESL4 | Map3k20 | Mitogen-activated protein kinase kinase kinase 20 | Mus musculus (Mouse) | PR |
| Q66L42 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Mus musculus (Mouse) | SS |
| P00536 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Mus musculus (Mouse) | PR |
| P0C8E4 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Rattus norvegicus (Rat) | SS |
| Q66HA1 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Rattus norvegicus (Rat) | PR |
| D3ZG83 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Rattus norvegicus (Rat) | SS |
| P00539 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Rattus norvegicus (Rat) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| Q9FPR3 | EDR1 | Serine/threonine-protein kinase EDR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q67E00 | dstyk | Dual serine/threonine and tyrosine protein kinase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSPLALRPY | LRSEFSPSVD | ARPCSSPSEL | PAKLLLGATL | PRAPRLPRRL | AWCSIDWEQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CLLQRLGAGG | FGSVYKATYR | GVPVAIKQVN | KCTKNRLASR | RSFWAELNVA | RLRHDNIVRV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VAASTRTPAG | SNSLGTIIME | FGGNVTLHQV | IYGAAGHPEG | DAGEPHCRTG | GQLSLGKCLK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YSLDVVNGLL | FLHSQSIVHL | DLKPANILIS | EQDVCKISDF | GCSEKLEDLL | CFQTPSYPLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GTYTHRAPEL | LKGEGVTPKA | DIYSFAITLW | QMTTKQAPYS | GERQHILYAV | VAYDLRPSLS |
| 310 | 320 | 330 | 340 | ||
| AAVFEDSLPG | QRLGDVIQRC | WRPSAAQRPS | ARLLLVDLTS | LKAELG |