LMBRD1

LMBR1 domain containing 1
Identifiers
Symbols	LMBRD1 ; C6orf209; LMBD1; MAHCF; NESI
External IDs	OMIM: 612625 MGI: 1915671 HomoloGene: 10156 GeneCards: LMBRD1 Gene
Gene ontology Molecular function • insulin receptor binding • cobalamin binding Cellular component • lysosomal membrane • plasma membrane • membrane • integral component of membrane • clathrin-coated endocytic vesicle Biological process • vitamin metabolic process • water-soluble vitamin metabolic process • cobalamin metabolic process • viral process • insulin receptor internalization • small molecule metabolic process • negative regulation of glucose import • negative regulation of insulin receptor signaling pathway • negative regulation of protein kinase B signaling Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55788	68421
Ensembl	ENSG00000168216	ENSMUSG00000073725
UniProt	Q9NUN5	Q8K0B2
RefSeq (mRNA)	NM_018368	NM_026719
RefSeq (protein)	NP_060838	NP_080995
Location (UCSC)	Chr 6: 69.68 – 69.8 Mb	Chr 1: 24.68 – 24.77 Mb
PubMed search

Probable lysosomal cobalamin transporter is a protein that in humans is encoded by the LMBRD1 gene.^[1][2]

References

1. Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P (Jan 2009). "Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism". Nat Genet 41 (2): 234–9. doi:10.1038/ng.294. PMID 19136951.
2. "Entrez Gene: LMBRD1 LMBR1 domain containing 1".

Further reading

• Wang YH, Chang SC, Huang C, et al. (2005). "Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.". J. Virol. 79 (13): 8113–20. doi:10.1128/JVI.79.13.8113-8120.2005. PMC 1143724. PMID 15956556.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

External links

• GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism