Property Summary

NCBI Gene PubMed Count 19
PubMed Score 110.24
PubTator Score 16.89

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9NUN5 A8K204 E1P531 Q5VUN6 Q86Y70 Q96FW4 Q9BY56 Q9NZD6
Symbols NESI
LMBD1
MAHCF
C6orf209

Gene

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.
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