PACSIN3

PACSIN3
Identifiers
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
Gene location (Human)
Chr.	Chromosome 11 (human)
End	47,186,443 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	91,095,024 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; muscle of thigh; ; gastrocnemius muscle; ; body of tongue; ; Skeletal muscle tissue of rectus abdominis; ; left ventricle; ; right auricle; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex;
	Top expressed in
	muscle of thigh; ; interventricular septum; ; temporal muscle; ; skeletal muscle tissue; ; digastric muscle; ; sternocleidomastoid muscle; ; triceps brachii muscle; ; esophagus; ; soleus muscle; ; lip;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	cytoskeletal protein binding ; calcium channel inhibitor activity ; protein binding ; lipid binding ; phospholipid binding ;
Cellular component	endosome ; plasma membrane ; extracellular exosome ; membrane ; cytoplasm ; cytosol ; cytoskeleton ;
Biological process	regulation of endocytosis ; negative regulation of endocytosis ; positive regulation of membrane protein ectodomain proteolysis ; endocytosis ; plasma membrane tubulation ; negative regulation of calcium ion transport ; regulation of molecular function ; cytoskeleton organization ;
	Sources:Amigo / QuickGO
Orthologs
	29763
	80708
	ENSG00000165912
	ENSMUSG00000027257
	Q9UKS6
	Q99JB8
	NM_016223 ; NM_001184974 ; NM_001184975
	NM_001289677 ; NM_001289678 ; NM_028733 ; NM_030880
	NP_001171903 ; NP_001171904 ; NP_057307
	NP_001276606 ; NP_001276607 ; NP_083009 ; NP_112019
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 03, 2024

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]

Interactions

PACSIN3 has been shown to interact with PACSIN1 ^[7] and PACSIN2.^[7]

Related Research Articles

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.

Axin-1 is a protein that in humans is encoded by the AXIN1 gene.

Dynamin-2 is a protein that in humans is encoded by the DNM2 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 12 is an enzyme that in humans is encoded by the ADAM12 gene. ADAM12 has two splice variants: ADAM12-L, the long form, has a transmembrane region and ADAM12-S, a shorter variant, is soluble and lacks the transmembrane and cytoplasmic domains.

Disintegrin and metalloproteinase domain-containing protein 15 is an enzyme that in humans is encoded by the ADAM15 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.

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.

<span class="mw-page-title-main">ELMO1</span> Protein-coding gene in the species Homo sapiens

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.

Protein kinase C and casein kinase substrate in neurons protein 1 also known as syndapin I 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.

Diacylglycerol kinase theta is an enzyme that in humans is encoded by the DGKQ gene.

Ubiquitin-associated and SH3 domain-containing protein A is a protein that in humans is encoded by the UBASH3A gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000165912 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027257 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Howard L, Nelson KK, Maciewicz RA, Blobel CP (December 1999). "Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1". J Biol Chem. 274 (44): 31693–9. doi: 10.1074/jbc.274.44.31693 . PMID 10531379.
↑ "Entrez Gene: PACSIN3 protein kinase C and casein kinase substrate in neurons 3".
1 2 Modregger, J; Ritter B; Witter B; Paulsson M; Plomann M (December 2000). "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis". J. Cell Sci. 113. Pt 24 (24). ENGLAND: 4511–21. doi:10.1242/jcs.113.24.4511. ISSN 0021-9533. PMID 11082044.

Modregger J, Ritter B, Witter B, et al. (2001). "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis". J. Cell Sci. 113. Pt 24 (24): 4511–21. doi:10.1242/jcs.113.24.4511. PMID 11082044.
Sumoy L, Pluvinet R, Andreu N, et al. (2001). "PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family". Gene. 262 (1–2): 199–205. doi:10.1016/S0378-1119(00)00531-X. PMID 11179684.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Mori S, Tanaka M, Nanba D, et al. (2003). "PACSIN3 binds ADAM12/meltrin alpha and up-regulates ectodomain shedding of heparin-binding epidermal growth factor-like growth factor". J. Biol. Chem. 278 (46): 46029–34. doi: 10.1074/jbc.M306393200 . PMID 12952982.
Schulze WX, Mann M (2004). "A novel proteomic screen for peptide-protein interactions". J. Biol. Chem. 279 (11): 10756–64. doi: 10.1074/jbc.M309909200 . PMID 14679214.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Onodera Y, Hashimoto S, Hashimoto A, et al. (2005). "Expression of AMAP1, an ArfGAP, provides novel targets to inhibit breast cancer invasive activities". EMBO J. 24 (5): 963–73. doi:10.1038/sj.emboj.7600588. PMC 554134 . PMID 15719014.
Cuajungco MP, Grimm C, Oshima K, et al. (2006). "PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4". J. Biol. Chem. 281 (27): 18753–62. doi: 10.1074/jbc.M602452200 . hdl: 2066/51163 . PMID 16627472.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID 17081983. S2CID 7827573.
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948 . PMID 17353931.
Distelmaier F, Sezer A, Helm C, et al. (2024). "Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia". Brain. awae099 (7): e45–e49. doi:10.1093/brain/awae099. PMID 38637313.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000165912 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027257 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10531379-5] Howard L, Nelson KK, Maciewicz RA, Blobel CP (December 1999). "Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1". J Biol Chem. 274 (44): 31693–9. doi: 10.1074/jbc.274.44.31693 . PMID 10531379.

[entrez-6] "Entrez Gene: PACSIN3 protein kinase C and casein kinase substrate in neurons 3".

[pmid11082044-7] 1 2 Modregger, J; Ritter B; Witter B; Paulsson M; Plomann M (December 2000). "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis". J. Cell Sci. 113. Pt 24 (24). ENGLAND: 4511–21. doi:10.1242/jcs.113.24.4511. ISSN 0021-9533. PMID 11082044.

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PACSIN3

Contents

Interactions

Related Research Articles

References

Further reading