Homo sapiens Gene: LMBRD1
Summary
InnateDB Gene IDBG-91834.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LMBRD1
Gene Name LMBR1 domain containing 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000168216
Encoded Proteins
LMBR1 domain containing 1
LMBR1 domain containing 1
LMBR1 domain containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:69675802-69797111
Strand Reverse strand
Band q13
Transcripts
ENST00000370577 ENSP00000359609
ENST00000370570 ENSP00000359602
ENST00000472827 ENSP00000433385
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:0005158 insulin receptor binding
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:0038016 insulin receptor internalization
GO:0044281 small molecule metabolic process
GO:0046325 negative regulation of glucose import
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0051898 negative regulation of protein kinase B signaling
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0045334 clathrin-coated endocytic vesicle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.629945
RefSeq NM_018368 XM_006715511
HUGO
OMIM
CCDS CCDS4969
HPRD 12877
IMGT
EMBL
GenPept
RNA Seq Atlas