Version 5.4
Homo sapiens Protein: VPS13B
Summary
InnateDB Protein IDBP-481872.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VPS13B
Protein Name vacuolar protein sorting 13 homolog B (yeast)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000430900
InnateDB Gene IDBG-30161 (VPS13B)
Protein Structure
UniProt Annotation
Function May be involved in protein sorting in post Golgi membrane traffic. {ECO:0000250}.
Subcellular Localization
Disease Associations Cohen syndrome (COH1) [MIM:216550]: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. {ECO:0000269PubMed:12730828, ECO:0000269PubMed:15141358, ECO:0000269PubMed:15154116, ECO:0000269PubMed:15211651, ECO:0000269PubMed:16648375, ECO:0000269PubMed:19006247}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult. Expression is very low in adult brain tissue. Isoform 1 and isoform 2 are expressed in brain and retina. Isoform 2 is expressed ubiquitously. {ECO:0000269PubMed:12730828, ECO:0000269PubMed:19006247}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0015031 protein transport
Cellular Component
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q7Z7G8
PhosphoSite PhosphoSite-Q7Z7G8
TrEMBL
UniProt Splice Variant
Entrez Gene 157680
UniGene Hs.685609
RefSeq XP_006716574
HUGO HGNC:2183
OMIM 607817
CCDS
HPRD 06379
IMGT
EMBL AB011104 AC018442 AC023933 AC026827 AC104986 AC105195 AC105328 AC107909 AJ608772 AJ608773 AK000590 AK091431 AP004289 AP004290 AY223814 AY223815 AY223816 AY223817 AY223818
GenPept AAP41102 AAP41103 AAP41104 AAP41105 AAP41106 BAA25458 BAA91275 BAC03664 CAE75584 CAE75585

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca