Homo sapiens Protein: RAB23 | |||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-483738.3 | ||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||
Gene Symbol | RAB23 | ||||||||||||||||||||||||||||||
Protein Name | RAB23, member RAS oncogene family | ||||||||||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000417610 | ||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-91614 (RAB23) | ||||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||||
Function | The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes. {ECO:0000269PubMed:22365972, ECO:0000269PubMed:22452336}. | ||||||||||||||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell membrane. Cytoplasm. Cytoplasmic vesicle, autophagosome. Endosome membrane {ECO:0000250}. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis. | ||||||||||||||||||||||||||||||
Disease Associations | Carpenter syndrome 1 (CRPT1) [MIM:201000]: A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. {ECO:0000269PubMed:17503333, ECO:0000269PubMed:21412941}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||
InterPro |
IPR000795
Elongation factor, GTP-binding domain IPR001806 Small GTPase superfamily IPR002041 Ran GTPase IPR003578 Small GTPase superfamily, Rho type IPR003579 Small GTPase superfamily, Rab type IPR005225 Small GTP-binding protein domain IPR006689 Small GTPase superfamily, ARF/SAR type IPR006762 Gtr1/RagA G protein IPR013684 Mitochondrial Rho-like IPR020849 Small GTPase superfamily, Ras type IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00009
PF00071 PF00025 PF04670 PF08477 |
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PRINTS |
PR00315
PR00449 PR00627 PR00328 |
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PIRSF | |||||||||||||||||||||||||||||||
SMART |
SM00176
SM00174 SM00175 SM00173 |
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TIGRFAMs | |||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||
SwissProt | Q9ULC3 | ||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9ULC3 | ||||||||||||||||||||||||||||||
TrEMBL | A0A024RD41 | ||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||
Entrez Gene | 51715 | ||||||||||||||||||||||||||||||
UniGene | Hs.594199 | ||||||||||||||||||||||||||||||
RefSeq | NP_057361 | ||||||||||||||||||||||||||||||
HUGO | HGNC:14263 | ||||||||||||||||||||||||||||||
OMIM | 606144 | ||||||||||||||||||||||||||||||
CCDS | CCDS4962 | ||||||||||||||||||||||||||||||
HPRD | 05850 | ||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||
EMBL | AB025427 AB034244 AF161486 AF498951 AK313796 AL031321 AY585189 BC015021 CH471081 CR749371 | ||||||||||||||||||||||||||||||
GenPept | AAF29101 AAH15021 AAM21099 AAT79492 BAA87324 BAB40309 BAG36532 CAH18224 CAI21564 EAX04476 EAX04478 EAX04479 | ||||||||||||||||||||||||||||||