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 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
	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

Protein kinase C and casein kinase substrate in neurons protein 3 is an enzyme that in humans is encoded by the PACSIN3 gene.

Human disease

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