LMBRD1

Protein-coding gene in the species Homo sapiens
LMBRD1
Identifiers
AliasesLMBRD1, C6orf209, LMBD1, MAHCF, NESI, LMBR1 domain containing 1
External IDsOMIM: 612625; MGI: 1915671; HomoloGene: 10156; GeneCards: LMBRD1; OMA:LMBRD1 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for LMBRD1
Genomic location for LMBRD1
Band6q13Start69,672,757 bp[1]
End69,867,236 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for LMBRD1
Genomic location for LMBRD1
Band1|1 A5Start24,717,711 bp[2]
End24,805,382 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • retinal pigment epithelium

  • islet of Langerhans

  • olfactory bulb

  • bronchial epithelial cell

  • corpus callosum

  • C1 segment

  • Epithelium of choroid plexus

  • skin of thigh

  • cerebellar vermis
Top expressed in
  • saccule

  • ectoderm

  • otic vesicle

  • otic placode

  • spermatid

  • Epithelium of choroid plexus

  • neural layer of retina

  • superior frontal gyrus

  • stroma of bone marrow

  • anterior horn of spinal cord
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
SpeciesHumanMouse
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 MbChr 1: 24.72 – 24.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Probable lysosomal cobalamin transporter is a protein that in humans is encoded by the LMBRD1 gene.[5][6]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168216 – Ensembl, May 2017
  2. ^ a b c 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.
  • GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism


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