PACSIN3

Last updated
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
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 Mb Chr 2: 91.09 – 91.1 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Contents

Human disease

Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy



Interactions

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

Related Research Articles

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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.

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165912 Ensembl, May 2017
  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.
  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. 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.

Further reading