InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB39B

Summary

InnateDB Protein

IDBP-92441.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RAB39B

Protein Name

RAB39B, member RAS oncogene family

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000358466

InnateDB Gene

IDBG-92439 (RAB39B)

Protein Structure

UniProt Annotation

Function

May be involved in vesicular trafficking. Plays a role in synapse formation (By similarity). {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Golgi apparatus {ECO:0000269PubMed:20159109}. Note=Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network. {ECO:0000250}.

Disease Associations

Mental retardation, X-linked 72 (MRX72) [MIM:300271]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. {ECO:0000269PubMed:20159109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in the brain. {ECO:0000269PubMed:20159109}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding

Biological Process

GO:0006184	GTP catabolic process
GO:0006886	intracellular protein transport
GO:0006913	nucleocytoplasmic transport
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0015031	protein transport
GO:0016192	vesicle-mediated transport
GO:0050808	synapse organization

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0016020	membrane

Protein Structure and Domains

PDB ID

InterPro

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

PF00071
PF00025
PF04670
PF08477

PRINTS

PR00449
PR00627
PR00328

PIRSF

SMART

SM00176
SM00174
SM00175
SM00173

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt