PACSIN3

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]

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
View/Edit Human View/Edit Mouse

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]