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) [1] Band 11p11.2 Start 47,177,522 bp [1] End 47,186,443 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 E1 Start 91,086,299 bp [2] End 91,095,024 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart muscle of thigh gastrocnemius muscle body of tongue Skeletal muscle tissue of rectus abdominis left ventricle right auricle of heart 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 BioGPS 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 Species Human Mouse Entrez 29763 80708 Ensembl ENSG00000165912 ENSMUSG00000027257 UniProt Q9UKS6 Q99JB8 RefSeq (mRNA) NM_016223 NM_001184974 NM_001184975 NM_001289677 NM_001289678 NM_028733 NM_030880 RefSeq (protein) NP_001171903 NP_001171904 NP_057307 NP_001276606 NP_001276607 NP_083009 NP_112019 Location (UCSC) Chr 11: 47.18 – 47.19 Mb Chr 2: 91.09 – 91.1 Mb PubMed search [3] [4]
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. ^[7]

Interactions

PACSIN3 has been shown to interact with PACSIN1 ^[8] and PACSIN2. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000165912 – Ensembl, May 2017
2. 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.
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.
6. "Entrez Gene: PACSIN3 protein kinase C and casein kinase substrate in neurons 3".
7. 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.
8. 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.

Further reading

• 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.