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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