Version 5.4
Homo sapiens Protein: LMBRD1
Summary
InnateDB Protein IDBP-595827.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LMBRD1
Protein Name LMBR1 domain containing 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000433385
InnateDB Gene IDBG-91834 (LMBRD1)
Protein Structure
UniProt Annotation
Function Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV). {ECO:0000269PubMed:15956556, ECO:0000269PubMed:19136951}.
Subcellular Localization Lysosome membrane {ECO:0000269PubMed:19136951}; Multi-pass membrane protein {ECO:0000269PubMed:19136951}.
Disease Associations Methylmalonic aciduria and homocystinuria type cblF (MMAHCF) [MIM:277380]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. {ECO:0000269PubMed:19136951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoform 3 is expressed in liver. {ECO:0000269PubMed:15956556}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0031419 cobalamin binding
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006810 transport
GO:0009235 cobalamin metabolic process
GO:0016032 viral process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005765 lysosomal membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR006876 LMBR1-like membrane protein
PFAM PF04791
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NUN5
PhosphoSite PhosphoSite-Q9NUN5
TrEMBL
UniProt Splice Variant
Entrez Gene 55788
UniGene Hs.629945
RefSeq
HUGO HGNC:23038
OMIM 612625
CCDS
HPRD 12877
IMGT
EMBL AF113224 AF208863 AF211480 AK002102 AK290069 AL358133 AL583831 AL590702 AY136817 BC010360 BC047073 CH471051
GenPept AAF64277 AAG39295 AAH10360 AAH47073 AAK26247 AAN11301 BAA92087 BAF82758 CAH74081 CAH74083 CAI16835 CAI16836 CAI17314 CAI17316 EAW48832 EAW48833 EAW48835

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