Entrez Gene ID | 57144 |
---|---|
Official Gene Symbol | PAK5 (GeneCards) |
Full name | p21 (RAC1) activated kinase 5 |
Location | 20p12.2 |
Other ids | Vega : OTTHUMG00000031857 MIM : 608038 HGNC : HGNC:15916 Ensembl : ENSG00000101349 |
Other names | PAK7 |
Summary | The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] |
Found 13 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
21134 | 57144 | PAK7 | 20 | 9791646 | 9791646 | Asymptomatic | HiSeq X Ten |
21188 | 57144 | PAK7 | 20 | 9651388 | 9651388 | Asymptomatic | HiSeq X Ten |
21203 | 57144 | PAK7 | 20 | 9690106 | 9690106 | Asymptomatic | HiSeq X Ten |
21209 | 57144 | PAK7 | 20 | 9660620 | 9660620 | Asymptomatic | HiSeq X Ten |
21295 | 57144 | PAK7 | 20 | 9680488 | 9680488 | Asymptomatic | HiSeq X Ten |
21479 | 57144 | PAK7 | 20 | 9859035 | 9859035 | Cockayne syndrome | HiSeq X Ten |
21493 | 57144 | PAK7 | 20 | 9685405 | 9685405 | Cockayne syndrome | HiSeq X Ten |
21517 | 57144 | PAK7 | 20 | 9869358 | 9869358 | Cockayne syndrome | HiSeq X Ten |
21518 | 57144 | PAK7 | 20 | 9871706 | 9871706 | Cockayne syndrome | HiSeq X Ten |
24070 | 57144 | PAK7 | 20 | 9832979 | 9832979 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28539 | 57144 | PAK7 | 20 | 9548307 | 9548307 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28562 | 57144 | PAK7 | 20 | 9823208 | 9823208 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28596 | 57144 | PAK7 | 20 | 9620081 | 9620081 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |