MYL12A
Summary: This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| myosin light chain 12A | Ensembl:ENSG00000101608 | HGNC:HGNC:16701 | PA164723273 | 18p11.31 |
GO terms in MYL12A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0016459 | myosin complex |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | TAS | GO:0006936 | muscle contraction |
| BP | HMP | GO:0070527 | platelet aggregation |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: MYL12A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MYL12A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP306 | Focal Adhesion |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| kegg | hsa04611 | Platelet activation - Homo sapiens (human) |
| kegg | hsa04670 | Leukocyte transendothelial migration - Homo sapiens (human) |
| kegg | hsa04810 | Regulation of actin cytoskeleton - Homo sapiens (human) |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-2682334 | EPH-Ephrin signaling |
| reactome | R-HSA-2682334 | EPH-Ephrin signaling |
| reactome | R-HSA-373755 | Semaphorin interactions |
| reactome | R-HSA-3928663 | EPHA-mediated growth cone collapse |
| reactome | R-HSA-3928664 | Ephrin signaling |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-400685 | Sema4D in semaphorin signaling |
| reactome | R-HSA-416572 | Sema4D induced cell migration and growth-cone collapse |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-445355 | Smooth Muscle Contraction |
| reactome | R-HSA-5625740 | RHO GTPases activate PKNs |
| reactome | R-HSA-5625900 | RHO GTPases activate CIT |
| reactome | R-HSA-5627117 | RHO GTPases Activate ROCKs |
| reactome | R-HSA-5627123 | RHO GTPases activate PAKs |
| reactome | R-HSA-5627123 | RHO GTPases activate PAKs |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MYL12A
CLASSFICATION
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