Mus musculus Gene: Lmbrd1 | |||||||||||||
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Summary | |||||||||||||
InnateDB Gene | IDBG-139361.6 | ||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||
Gene Symbol | Lmbrd1 | ||||||||||||
Gene Name | LMBR1 domain containing 1 | ||||||||||||
Synonyms | 0910001K20Rik; AV347960 | ||||||||||||
Species | Mus musculus | ||||||||||||
Ensembl Gene | ENSMUSG00000073725 | ||||||||||||
Encoded Proteins |
LMBR1 domain containing 1
LMBR1 domain containing 1
LMBR1 domain containing 1
LMBR1 domain containing 1
LMBR1 domain containing 1
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Protein Structure | |||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||
Entrez Gene | |||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000168216:
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] |
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Gene Information | |||||||||||||
Type | Protein coding | ||||||||||||
Genomic Location | Chromosome 1:24678630-24766301 | ||||||||||||
Strand | Forward strand | ||||||||||||
Band | A5 | ||||||||||||
Transcripts | |||||||||||||
Interactions | |||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 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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Orthologs | |||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||
NETPATH | |||||||||||||
REACTOME |
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Metabolism pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of vitamins and cofactors pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
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KEGG | |||||||||||||
INOH | |||||||||||||
PID NCI | |||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||
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
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KEGG | |||||||||||||
INOH | |||||||||||||
PID NCI | |||||||||||||
Cross-References | |||||||||||||
SwissProt | |||||||||||||
TrEMBL | |||||||||||||
UniProt Splice Variant | |||||||||||||
Entrez Gene | |||||||||||||
UniGene | Mm.336563 Mm.400586 Mm.489859 | ||||||||||||
RefSeq | NM_026719 XM_006496240 | ||||||||||||
OMIM | |||||||||||||
CCDS | CCDS35528 | ||||||||||||
HPRD | |||||||||||||
IMGT | |||||||||||||
MGI ID | |||||||||||||
MGI Symbol | |||||||||||||
EMBL | |||||||||||||
GenPept | |||||||||||||
RNA Seq Atlas | |||||||||||||