Property Summary

NCBI Gene PubMed Count 19
PubMed Score 110.24
PubTator Score 16.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
Multiple myeloma 1.621 1.0e-03
medulloblastoma, large-cell -1.700 2.8e-06
pancreatic ductal adenocarcinoma liver m... -2.317 7.2e-03
intraductal papillary-mucinous carcinoma... -1.100 1.2e-02
lung adenocarcinoma -1.100 1.5e-08
inflammatory breast cancer -1.100 8.0e-04
ovarian cancer -2.600 2.2e-10

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (7)

PMID Text
25535791 Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC.
24078630 LMBD1 plays an imperative role in mediating and regulating the endocytosis of the IR.
23175358 These data indicate that by forming complexes with lamin A/C and nucleoporins, NESI facilitates the CRM1-independent nuclear export of large hepatitis delta antigen.
21303734 novel mutations in LMBRD1 in three patients
20446115 LMBRD1: the gene for the cblF defect of vitamin B metabolism.
20127417 a LMBRD1 mutation causes the cblF defect of vitamin B(12) metabolism in a Turkish patient [case report]
19136951 LMBRD1 is the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin.

AA Sequence

MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALITSALLPVDIFL      1 - 70
VSYMKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTA     71 - 140
LKYTLGFVVICALLLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAIT    141 - 210
YTAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLK    211 - 280
KRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSN    281 - 350
PLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLI    351 - 420
VLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFF    421 - 490
SAAYYFGNWAFLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA                        491 - 540
//

Text Mined References (21)

PMID Year Title
27456980 2016 Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.
25535791 Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.
24078630 2013 LMBD1 protein serves as a specific adaptor for insulin receptor internalization.
23175358 2013 Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen.
21303734 2011 Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
20446115 2011 LMBRD1: the gene for the cblF defect of vitamin B?? metabolism.
20339536 2010 Genome-wide association of lipid-lowering response to statins in combined study populations.
20127417 2010 A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19946888 2010 Defining the membrane proteome of NK cells.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19136951 2009 Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15956556 2005 Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.