InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB23

Summary

InnateDB Protein

IDBP-91616.6

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

ENSP00000320413

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.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005525	GTP binding

Biological Process

GO:0000045	autophagic vacuole assembly
GO:0006184	GTP catabolic process
GO:0006886	intracellular protein transport
GO:0006913	nucleocytoplasmic transport
GO:0006968	cellular defense response
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0015031	protein transport
GO:0042992	negative regulation of transcription factor import into nucleus
GO:0097094	craniofacial suture morphogenesis

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005776	autophagic vacuole
GO:0005886	plasma membrane
GO:0010008	endosome membrane
GO:0016020	membrane
GO:0030670	phagocytic vesicle membrane
GO:0045335	phagocytic vesicle
GO:0070062	extracellular vesicular exosome

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

PFAM

PF00009
PF00071
PF00025
PF04670
PF08477

PRINTS

PR00315
PR00449
PR00627
PR00328

PIRSF

SMART

SM00176
SM00174
SM00175
SM00173

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt