PACSIN3
Protein Kinase C and Casein Kinase Substrate in Neurons 3
Gene Information Card
| Symbol | PACSIN3 |
|---|---|
| Full Name | Protein Kinase C and Casein Kinase Substrate in Neurons 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p12-p11.2 |
| NCBI Gene ID | 29763 ncbi.nlm.nih.gov/gene/29763 |
| Ensembl ID | ENSG00000149269 |
| UniProt ID | Q9UKS6 |
| OMIM ID | 606591 |
| HGNC ID | 8571 |
| Aliases | SDPIII, syndapin III |
Description
PACSIN3 (Protein Kinase C and Casein Kinase Substrate in Neurons 3) encodes a member of the PACSIN family of proteins, which are involved in vesicle trafficking, endocytosis, and actin cytoskeleton reorganization. The protein contains an N-terminal F-BAR domain that mediates membrane binding and tubulation, and a C-terminal SH3 domain that interacts with dynamin and other endocytic proteins. PACSIN3 is widely expressed and plays a role in clathrin-mediated endocytosis, particularly in muscle and neuronal tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.3 | Medium |
| Skeletal Muscle | 12.1 | Medium |
| Brain | 8.5 | Low |
| Lung | 7.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 6.8 | Hepatocellular carcinoma |
| A549 | 5.3 | Lung carcinoma |
| SH-SY5Y | 9.1 | Neuroblastoma |
| HeLa | 7.5 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown functional impact |
| c.454C>T (p.Arg152Trp) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis | • actin cytoskeleton organization |
| • membrane tubulation | • protein binding |
| • SH3 domain binding | • lipid binding |
Pathways
• Clathrin-mediated endocytosis
• Fc gamma receptor-mediated phagocytosis
Protein Summary
PACSIN3 is a 424-amino acid protein with a molecular weight of approximately 48 kDa. It contains an N-terminal F-BAR domain (residues 1-300) that binds to membranes and induces tubulation, and a C-terminal SH3 domain (residues 350-424) that interacts with proline-rich motifs in dynamin, synaptojanin, and other endocytic proteins. The protein is involved in the regulation of clathrin-mediated endocytosis and actin dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PACSIN3 Knockout HEK293 Cell Line | EDJ-KQ3383 | Human | 29763 | Details Get a Quote |
| PACSIN3 Knockout A-549 Cell Line | EDJ-KQ25067 | Human | 29763 | Details Get a Quote |
| PACSIN3 Knockout HCT 116 Cell Line | EDJ-KQ25068 | Human | 29763 | Details Get a Quote |
| PACSIN3 Knockout HeLa Cell Line | EDJ-KQ25069 | Human | 29763 | Details Get a Quote |
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