MAP3K5
mitogen-activated protein kinase kinase kinase 5
Summary
Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768924733 | 6:136,878,921 | A/G | — | likely benign |
| rs1309042597 | 6:136,878,925 | T/G | — | uncertain significance |
| rs1830369417 | 6:136,879,945 | T/C | — | uncertain significance |
| rs890732310 | 6:136,879,984 | C/T | — | uncertain significance |
| rs35551087 | 6:136,888,782 | T/C | — | benign |
| rs199822722 | 6:136,888,815 | G/A | — | uncertain significance |
| rs201346343 | 6:136,888,823 | C/T | — | likely benign |
| rs1774180518 | 6:136,888,829 | G/A | — | uncertain significance |
| rs766760055 | 6:136,888,863 | C/T | — | uncertain significance |
| rs1443601539 | 6:136,901,538 | T/C | — | uncertain significance |
| rs78692210 | 6:136,904,783 | G/A | — | benign |
| rs2547802061 | 6:136,904,833 | T/C | — | likely benign |
| rs754104930 | 6:136,913,590 | C/T | — | uncertain significance |
| rs150394997 | 6:136,913,616 | G/A | — | benign |
| rs200595565 | 6:136,913,684 | C/T | — | uncertain significance |
| rs770489589 | 6:136,913,699 | T/C | — | uncertain significance |
| rs772322089 | 6:136,922,969 | T/C | — | uncertain significance |
| rs1234343844 | 6:136,922,982 | T/C | — | uncertain significance |
| rs768974810 | 6:136,923,074 | G/A | — | uncertain significance |
| rs771035804 | 6:136,932,447 | T/C | — | uncertain significance |
| rs2547831138 | 6:136,932,450 | C/T | — | uncertain significance |
| rs138095094 | 6:136,934,268 | C/T | — | uncertain significance |
| rs990681530 | 6:136,934,269 | G/A | — | uncertain significance |
| rs750404207 | 6:136,934,389 | G/C | — | uncertain significance |
| rs114824668 | 6:136,935,289 | T/C | — | benign |
| rs772628943 | 6:136,935,350 | C/T | — | uncertain significance |
| rs41288961 | 6:136,943,976 | A/G | — | benign |
| rs1776874102 | 6:136,944,067 | G/A | — | uncertain significance |
| rs7775356 | 6:136,956,640 | T/A | intron variant | — |
| rs576696723 | 6:136,958,500 | C/T | — | uncertain significance |
| rs1305339619 | 6:136,958,507 | C/T | — | uncertain significance |
| rs267600835 | 6:136,960,721 | C/T | — | uncertain significance |
| rs73777945 | 6:136,963,649 | G/A | — | benign |
| rs147386447 | 6:136,963,682 | C/A | — | uncertain significance |
| rs767696431 | 6:136,972,181 | T/C | — | uncertain significance |
| rs139583838 | 6:136,977,468 | C/T | — | uncertain significance |
| rs1778745994 | 6:136,977,474 | T/C | — | uncertain significance |
| rs367586343 | 6:136,977,539 | G/A | — | uncertain significance |
| rs74382461 | 6:136,980,386 | T/C | — | benign |
| rs752078321 | 6:136,980,427 | C/T | — | uncertain significance |
| rs930894804 | 6:136,990,423 | A/G | — | uncertain significance |
| rs369093185 | 6:137,015,290 | T/C | — | uncertain significance |
| rs777147693 | 6:137,015,413 | T/C | — | uncertain significance |
| rs2547917123 | 6:137,017,128 | T/C | — | uncertain significance |
| rs767682792 | 6:137,017,132 | A/C | — | uncertain significance |
| rs371052306 | 6:137,017,141 | C/T | — | uncertain significance |
| rs1327710991 | 6:137,018,481 | C/T | — | uncertain significance |
| rs1219090242 | 6:137,018,499 | T/C | — | uncertain significance |
| rs765972938 | 6:137,018,508 | G/C | — | uncertain significance |
| rs755673569 | 6:137,019,666 | C/T | — | uncertain significance |
| rs781159617 | 6:137,041,610 | G/A | — | uncertain significance |
| rs1570056 | 6:137,059,927 | T/C | intron variant | — |
| rs1022690 | 6:137,085,296 | T/C | regulatory region variant | — |
| rs9402846 | 6:137,093,377 | G/T | — | — |
| rs11154887 | 6:137,099,184 | T/A | intron variant | — |
| rs9376230 | 6:137,102,365 | C/G | — | — |
| rs6570101 | 6:137,103,194 | A/G | — | — |
| rs9494571 | 6:137,111,121 | C/T | intron variant | — |
| rs4524621 | 6:137,111,664 | G/C | intron variant | — |
| rs1365851539 | 6:137,112,895 | T/C | — | uncertain significance |
| rs1434064382 | 6:137,113,027 | C/T | — | uncertain significance |
| rs369233899 | 6:137,113,036 | C/T | — | uncertain significance |
| rs2548054280 | 6:137,113,130 | T/C | — | uncertain significance |
| rs55666429 | 6:137,113,137 | G/A | synonymous variant | — |
| rs1346689102 | 6:137,113,183 | A/G | — | uncertain significance |
| rs142989545 | 6:137,113,272 | G/A | — | benign |
| rs749639291 | 6:137,113,277 | C/G | — | uncertain significance |
| rs191122707 | 6:137,113,869 | T/A | — | benign |
| rs35898099 | 6:137,114,758 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.