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CAP-Gly domain-containing linker protein 2; cytoplasmic linker protein 115; CLIP-115; cytoplasmic linker protein 2; Williams-Beuren syndrome chromosomal region 3 protein; Williams-Beuren syndrome chromosomal region 4 protein (CLIP2, CYLN2, KIAA0291, WBSCR3, WBSCR4, WSCR4)
Function:
1) links microtubules to dendritic lamellar body (putative)
2) control of brain-specific organelle translocations (putative)
3) interacts with CLASP1 & CLASP2
Structure: contains 2 CAP-Gly domains
Compartment: cytoplasm, associated with cytoskeleton
Alternative splicing: named isoforms=2
Pathology:
- haploinsufficiency associated with Williams-Beuren syndrome
General
cytoskeletal protein
phosphoprotein
Properties
SIZE: entity length = 1046 aa
MW = 116 kD
COMPARTMENT: cytoplasm
MOTIF: Ser phosphorylation site {S49}
CAP/Gly domain {99-141}
MOTIF: glycine residue (SEVERAL)
Ser phosphorylation site {S202}
Ser phosphorylation site {S204}
Ser phosphorylation site {S207}
Ser phosphorylation site {S211}
CAP/Gly domain {239-281}
MOTIF: glycine residue (SEVERAL)
serine-rich region {314-345}
MOTIF: serine residue (SEVERAL)
Ser phosphorylation site {S352}
coiled coil {354-524}
coiled coil {561-636}
coiled coil {673-1016}
MOTIF: Ser phosphorylation site {S923}
Database Correlations
OMIM 603432
UniProt Q9UDT6
Pfam PF01302
Entrez Gene 7461
Kegg hsa:7461
References
- OMIM :accession 603432
- UniProt :accession Q9UDT6