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intersectin-1 (SH3 domain-containing protein 1A, SH3P17, ITSN1, ITSN, SH3D1A)

Function: 1) adapter protein 2) indirect link between endocytic membrane traffic & actin assembly (putative) 3) regulates formation of clathrin-coated vesicles 4) isoform 1 may be involved in brain-specific synaptic vesicle recycling 5) interacts with dynamin, CDC42, SNAP25, SNAP23, clathrin-associated proteins SPIN90, EPS15, EPN1, EPN2 & STN2 Compartment: cytoplasm, membrane, enriched in synaptosomes Alternative splicing: named isoforms=4 Expression: - ubiquitous in adult & fetal tissues, except isoform 1 - expressed in skeletal muscle, heart, spleen, ovary, testis > thymus, blood, lung, liver, pancreas - isoform 1 expressed almost exclusively in brain, expressed in all brain regions - not expressed in spinal cord Pathology: - overexpressed in brain from Down syndrome fetuses

Related

Down's syndrome

General

Ca+2 binding protein cytoskeletal protein phosphoprotein

Properties

SIZE: MW = 196 kD entity length = 1721 aa COMPARTMENT: cytoplasm MOTIF: EH 1 {21-109} MOTIF: EF hand SITE: 53-88 EH 2 {221-310} MOTIF: EF hand SITE: 254-289 Ser phosphorylation site {S315} KLERQ {326-702} coiled coil {351-705} src homology 3 [SH3] domain SITE: 740-806 Ser phosphorylation site {S902} Ser phosphorylation site {S904} src homology 3 [SH3] domain SITE: 913-971 src homology 3 [SH3] domain SITE: 1002-1060 src homology 3 [SH3] domain SITE: 1074-1138 MOTIF: Ser phosphorylation site {S1137} src homology 3 [SH3] domain SITE: 1155-1214 Dbl homology domain {1237-1423} PH domain {1462-1571} C2 domain {1583-1679} MOTIF: binding site FOR-BINDING-OF: phospholipid Ca+2-binding site

Database Correlations

OMIM 602442 UniProt Q15811 PFAM correlations

References

UniProt :accession Q15811