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SH3 & multiple ankyrin repeat domains protein 3; Shank3; proline-rich synapse-associated protein 2; ProSAP2 (SHANK3 KIAA1650 PSAP2)
Function:
- seems to be an adapter protein in the postsynaptic density of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-receptor & metabotropic glutamate receptors via complexes with GKAP/PSD-95 & homer, respectively, & the actin-based cytoskeleton
- may play a role in the structural & functional organization of the dendritic spine & synaptic junction
- may homomultimerize via its SAM domain (putative)
- interacts with DLGAP1/GKAP, MGLUR1A, MGLUR5 C-termini via its PDZ domain (putative)
- interacts with HOMER1, HOMER2, HOMER3 & CCTN/cortactin SH3 domain (putative)
- part of a complex with DLG4/PSD-95 & DLGAP1/GKAP
- interacts with DBNL
- interacts (via PDZ domain) with PROSAPIP1 (via C-terminus) (putative)
- interacts with BAIAP2
Structure:
- contains 6 ANK repeats
- contains 1 PDZ domain (DHR domain)
- contains 1 SAM (sterile alpha motif) domain
- contains 1 SH3 domain
Compartment:
- cytoplasm (putative)
- cell junction,
- synapse, postsynaptic cell membrane, postsynaptic density (putative)
Alternative splicing: named isoforms=2
Expression:
- expressed in the cerebral cortex & the cerebellum
Pathology:
- chromosomal translocation t(12;22)(q24.1;q13.3) involving SHANK3 with APPL2/DIP13B 22q13.3 is responsible for the clinical features of chromosome 22q13.3 deletion syndrome
- defects in SHANK3 are a cause of autism spectrum disorders
General
ankyrin repeat domain protein (ANKRD)
phosphoprotein
SH3 & multiple anykrin repeat domains (Shank) protein
Properties
SIZE: entity length = 1741 aa
MW = 186 kD
COMPARTMENT: cytoplasm
MOTIF: Tyr phosphorylation site {Y122}
ankyrin repeat
NAME: ankyrin repeat
SITE: 148-178
ankyrin repeat
NAME: ankyrin repeat
SITE: 182-211
ankyrin repeat
NAME: ankyrin repeat
SITE: 215-245
ankyrin repeat
NAME: ankyrin repeat
SITE: 249-278
ankyrin repeat
NAME: ankyrin repeat
SITE: 282-311
ankyrin repeat
NAME: ankyrin repeat
SITE: 315-345
Ser phosphorylation site {S375}
Ser phosphorylation site {S395}
src homology 3 [SH3] domain
SITE: 472-531
Tyr phosphorylation site {Y557}
Tyr phosphorylation site {Y566}
PDZ domain
NAME: PDZ domain
SITE: 572-666
proline-rich region
SITE: 679-682
MOTIF: proline residue (SEVERAL)
alanine-rich region {720-723}
MOTIF: alanine residue (SEVERAL)
Ser phosphorylation site {S783}
proline-rich region
SITE: 815-931
MOTIF: proline residue (SEVERAL)
Ser phosphorylation site {S1159}
Ser phosphorylation site {S1163}
proline-rich region
SITE: 1233-1350
MOTIF: proline residue (SEVERAL)
Thr phosphorylation site {T1235}
Ser phosphorylation site {S1254}
SH3-binding site
NAME: SH3-binding site
SITE: 1411-1417
coiled coil {1495-1515}
Ser phosphorylation site {S1644}
sterile alpha motif
NAME: sterile alpha motif
SITE: 1678-1741
Database Correlations
OMIM correlations
UniProt Q9BYB0
PFAM correlations
References
UniProt :accession Q9BYB0