ID:RAB5B_HUMAN DESCRIPTION: RecName: Full=Ras-related protein Rab-5B; FUNCTION: Protein transport. Probably involved in vesicular traffic (By similarity). ENZYME REGULATION: Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. SUBUNIT: Binds EEA1. Interacts with RIN2 and RIN3, which probably regulate its pathway, possibly by acting as GEFs. INTERACTION: Q15075:EEA1; NbExp=3; IntAct=EBI-399401, EBI-298113; SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side. Early endosome membrane; Lipid-anchor. Melanosome. Note=Enriched in stage I melanosomes. SIMILARITY: Belongs to the small GTPase superfamily. Rab family. SEQUENCE CAUTION: Sequence=AAH40143.1; Type=Erroneous initiation;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RAB5B CDC HuGE Published Literature: RAB5B Positive Disease Associations: type 1 diabetes Related Studies:
type 1 diabetes Hakonarson ,et al. 2008, A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study, Diabetes 2008 57- 4 : 1143-6.
[PubMed 18198356]
We have discovered a type 1 diabetes locus at 12q13 that is replicated in an independent cohort of type 1 diabetic patients and confers a type 1 diabetes risk comparable with that of the 16p13 locus we recently reported.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00025 - ADP-ribosylation factor family PF00071 - Ras family PF04670 - Gtr1/RagA G protein conserved region PF08477 - Ras of Complex, Roc, domain of DAPkinase
ModBase Predicted Comparative 3D Structure on P61020
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007032 endosome organization GO:0015031 protein transport GO:0019882 antigen processing and presentation GO:0030100 regulation of endocytosis GO:0043312 neutrophil degranulation GO:0048227 plasma membrane to endosome transport
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