Homo sapiens Protein: RAB33B | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-38460.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | RAB33B | ||||||||||||||||||||||
Protein Name | RAB33B, member RAS oncogene family | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000306496 | ||||||||||||||||||||||
InnateDB Gene | IDBG-38458 (RAB33B) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation. {ECO:0000269PubMed:20163571}. | ||||||||||||||||||||||
Subcellular Localization | Golgi apparatus membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Golgi apparatus, cis-Golgi network {ECO:0000269PubMed:18448665}. | ||||||||||||||||||||||
Disease Associations | Smith-McCort dysplasia 2 (SMC2) [MIM:615222]: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. {ECO:0000269PubMed:22652534, ECO:0000269PubMed:23042644}. 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 11 experimentally validated interaction(s) in this database.
They are also associated with 4 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 IPR019009 Signal recognition particle receptor, beta subunit IPR020849 Small GTPase superfamily, Ras type IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00009
PF00071 PF00025 PF04670 PF08477 PF09439 |
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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 | Q9H082 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite- | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 83452 | ||||||||||||||||||||||
UniGene | Hs.630352 | ||||||||||||||||||||||
RefSeq | NP_112586 | ||||||||||||||||||||||
HUGO | HGNC:16075 | ||||||||||||||||||||||
OMIM | 605950 | ||||||||||||||||||||||
CCDS | CCDS3747 | ||||||||||||||||||||||
HPRD | 05808 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC114743 AF350420 AK313685 AL136904 BC111977 | ||||||||||||||||||||||
GenPept | AAI11978 AAL83916 AAY40936 BAG36434 CAB66838 | ||||||||||||||||||||||