PACSIN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | PACSIN3 , SDPIII, protein kinase C and casein kinase substrate in neurons 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606513; MGI: 1891410; HomoloGene: 41117; GeneCards: PACSIN3; OMA:PACSIN3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein kinase C and casein kinase substrate in neurons protein 3 is an enzyme that in humans is encoded by the PACSIN3 gene. [5] [6]
Human disease
Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy
PACSIN3 has been shown to interact with PACSIN1 [7] and PACSIN2. [7]
Cortactin is a monomeric protein located in the cytoplasm of cells that can be activated by external stimuli to promote polymerization and rearrangement of the actin cytoskeleton, especially the actin cortex around the cellular periphery. It is present in all cell types. When activated, it will recruit Arp2/3 complex proteins to existing actin microfilaments, facilitating and stabilizing nucleation sites for actin branching. Cortactin is important in promoting lamellipodia formation, invadopodia formation, cell migration, and endocytosis.
Adapter molecule crk also known as proto-oncogene c-Crk is a protein that in humans is encoded by the CRK gene.
Sodium-hydrogen exchange regulatory cofactor NHE-RF2 (NHERF-2) also known as tyrosine kinase activator protein 1 (TKA-1) or SRY-interacting protein 1 (SIP-1) is a protein that in humans is encoded by the SLC9A3R2 gene.
Disintegrin and metalloproteinase domain-containing protein 15 is an enzyme that in humans is encoded by the ADAM15 gene.
Cytoplasmic protein NCK1 is a protein that in humans is encoded by the NCK1 gene.
Dynamin-1 is a protein that in humans is encoded by the DNM1 gene.
Vasodilator-stimulated phosphoprotein is a protein that in humans is encoded by the VASP gene.
Tyrosine-protein phosphatase non-receptor type 12 is an enzyme that in humans is encoded by the PTPN12 gene.
Alpha-actinin-4 is a protein that in humans is encoded by the ACTN4 gene.
Tyrosine-protein kinase ABL2 also known as Abelson-related gene (Arg) is an enzyme that in humans is encoded by the ABL2 gene.
Endophilin-A1 is a protein that in humans is encoded by the SH3GL2 gene.
Serine/threonine-protein kinase N2 is an enzyme that in humans and Strongylocentrotus purpuratus is encoded by the PKN2 gene.
Engulfment and cell motility protein 1 is a protein that in humans is encoded by the ELMO1 gene. ELMO1 is located on chromosome number seven in humans and is located on chromosome number thirteen in mice.
Sialic acid-binding Ig-like lectin 7 is a protein that in humans is encoded by the SIGLEC7 gene. SIGLEC7 has also been designated as CD328.
Protein kinase C and casein kinase substrate in neurons protein 1 is an enzyme that in humans is encoded by the PACSIN1 gene.
Vinexin is a protein that in humans is encoded by the SORBS3 gene.
Protein kinase C and casein kinase substrate in neurons protein 2 is a protein that in humans is encoded by the PACSIN2 gene. Pacsin 2 is involved in the formation of caveolae.
LIM and SH3 domain protein 1 is a protein that in humans is encoded by the LASP1 gene.
Interferon-alpha/beta receptor alpha chain is a protein that in humans is encoded by the IFNAR1 gene.
Ubiquitin-associated and SH3 domain-containing protein A is a protein that in humans is encoded by the UBASH3A gene.