LMBRD1 (LMBR1 domain containing 1)

2014-07-01  

Identity

HGNC
LOCATION
6q13
LOCUSID
ALIAS
C6orf209,LMBD1,MAHCF,NESI
FUSION GENES

Other Information

Locus ID:

NCBI: 55788
MIM: 612625
HGNC: 23038
Ensembl: ENSG00000168216

Variants:

dbSNP: 55788
ClinVar: 55788
TCGA: ENSG00000168216
COSMIC: LMBRD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168216ENST00000370570Q9NUN5
ENSG00000168216ENST00000472827A0A3F2YP66
ENSG00000168216ENST00000647650A0A3B3ITM4
ENSG00000168216ENST00000647669A0A3B3IRL1
ENSG00000168216ENST00000647964Q9NUN5
ENSG00000168216ENST00000648168Q9NUN5
ENSG00000168216ENST00000648303A0A3B3IU91
ENSG00000168216ENST00000648394Q9NUN5
ENSG00000168216ENST00000648635A0A3B3IS99
ENSG00000168216ENST00000648743Q9NUN5
ENSG00000168216ENST00000649011A0A3B3IT31
ENSG00000168216ENST00000649028Q9NUN5
ENSG00000168216ENST00000649054A0A3B3IRS7
ENSG00000168216ENST00000649057A0A3B3IT65
ENSG00000168216ENST00000649166A0A3B3IRN0
ENSG00000168216ENST00000649673A0A3B3ITP2
ENSG00000168216ENST00000649679Q9NUN5
ENSG00000168216ENST00000649795A0A3B3IU99
ENSG00000168216ENST00000649918Q9NUN5
ENSG00000168216ENST00000649934Q9NUN5
ENSG00000168216ENST00000649958A0A3B3ITR7
ENSG00000168216ENST00000649970A0A3B3IU68
ENSG00000168216ENST00000650035Q9NUN5
ENSG00000168216ENST00000650107Q9NUN5
ENSG00000168216ENST00000650124A0A3B3ITR7
ENSG00000168216ENST00000650473A0A3B3IS10
ENSG00000168216ENST00000651675A0A494C126

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191369512009Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.48
204461152011LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.12
240786302013LMBD1 protein serves as a specific adaptor for insulin receptor internalization.11
201274172010A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.9
255357912014Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.7
274569802016Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.7
213037342011Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.5
285725112017Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.4
231753582013Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen.2

Citation

Dessen P

LMBRD1 (LMBR1 domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54068/lmbrd1