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PACSIN3

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PACSIN3
Identifiers
AliasesPACSIN3, SDPIII, protein kinase C and casein kinase substrate in neurons 3
External IDsOMIM: 606513; MGI: 1891410; HomoloGene: 41117; GeneCards: PACSIN3; OMA:PACSIN3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 2: 91.09 – 91.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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



Interactions

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165912Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027257Ensembl, 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. ^ a b 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

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