LMBRD1

LMBRD1
Identifiers
Aliases	LMBRD1 , C6orf209, LMBD1, MAHCF, NESI, LMBR1 domain containing 1
External IDs	OMIM: 612625 MGI: 1915671 HomoloGene: 10156 GeneCards: LMBRD1
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6q13 Start 69,672,757 bp [1] End 69,867,236 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 A5 Start 24,717,711 bp [2] End 24,805,382 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte retinal pigment epithelium islet of Langerhans olfactory bulb bronchial epithelial cell corpus callosum cerebellar vermis Achilles tendon jejunal mucosa Brodmann area 46 Top expressed in saccule ectoderm otic placode spermatid superior frontal gyrus anterior horn of spinal cord cerebellar cortex jejunum right lung ileum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cobalamin binding insulin receptor binding ABC-type vitamin B12 transporter activity Cellular component integral component of membrane clathrin-coated endocytic vesicle lysosomal membrane plasma membrane lysosome membrane Biological process cobalamin metabolic process insulin receptor internalization negative regulation of glucose import negative regulation of insulin receptor signaling pathway negative regulation of protein kinase B signaling viral process cobalamin transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55788 68421 Ensembl ENSG00000168216 ENSMUSG00000073725 UniProt Q9NUN5 Q8K0B2 RefSeq (mRNA) NM_018368 NM_001363722 NM_001367271 NM_001367272 NM_026719 NM_001310483 RefSeq (protein) NP_060838 NP_001350651 NP_001297412 NP_080995 Location (UCSC) Chr 6: 69.67 – 69.87 Mb Chr 1: 24.72 – 24.81 Mb PubMed search [3] [4]
Wikidata
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Probable lysosomal cobalamin transporter is a protein that in humans is encoded by the LMBRD1 gene. ^{[5] [6]}

References

1. GRCh38: Ensembl release 89: ENSG00000168216 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000073725 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. S2CID   28006539.
6. "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. Bibcode:2003Natur.425..805M. 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. Bibcode:2002PNAS...9916899M. 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