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rab23 proto-oncogene protein; Ras-related protein Rab-23 (RAB23)
Function: neuronal development
Structure: belongs to the small GTPase superfamily, Rab family
Compartment:
- cell membrane; lipid-anchor; cytoplasmic side (putative)
Pathology:
- defects in RAB23 are the cause of Carpenter syndrome
- homozygous mutation associated with 'open brain' mouse
Related
rab-23 proto-oncogene
General
rab subfamily protein
Properties
SIZE: entity length = 237 aa
MW = 27 kD
COMPARTMENT: cytoplasm
MOTIF: GTP-binding site
SITE: 16-23
Effector region {38-46}
GTP-binding site
SITE: 64-68
GTP-binding site
SITE: 121-124
CaaX motif
SITE: C-TERMINUS
QUALITIES: AAX-TRUNCATED
CARBOXYMETHYLATED
EFFECTOR-BOUND: geranylgeranyl{C20}
BOUND-VIA: cysteine residue
Database Correlations
OMIM correlations
MORBIDMAP 606144
UniProt Q9ULC3
Pfam PF00071
Entrez Gene 51715
Kegg hsa:51715
References
- Seabra MC et al
Rab GTPases, intracellular traffic and disease
Trends in Molecular Medicine 8:23, 2002
PMID: 11796263
- Entrez Gene :accession 51715
- UniProt :accession Q9ULC3