GLOSITIS

Names and origin

Protein
names
Recommended name:
Probable lysosomal cobalamin transporter
Alternative name(s):
HDAg-L-interacting protein NESI
LMBR1 domain-containing protein 1
Nuclear export signal-interacting protein
Gene names Name: LMBRD1
Synonyms: C6orf209, NESI
ORF Names: BM-021, CD001, MSTP044
Organism Homo sapiens (Human)
Taxonomic
identifier
9606
Taxonomic
lineage
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mamma
lia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominida
e Homo
Protein attributes
Sequence length 540 AA.
Sequence status Complete.
Protein existence Evidence at protein level
General annotation (Comments)
Function Probable lysosomal cobalamin transporter. Required to export
cobalamin from lysosomes allowing its conversion to cofactors.
Isoform 3 may play a role in the assembly of hepatitis delta virus
(HDV).
Subunit structure Isoform 3 interacts with Hepatitis delta virus NES(HDAg-L).
Subcellular location Lysosome membrane; Multi-pass membrane protein
Tissue specificity Isoform 3 is expressed in liver.
Post-translational
modification
N-glycosylated.
Involvement in
disease
Methylmalonic aciduria and homocystinuria type cblF (MMAHCF)
[MIM:277380]: A disorder of cobalamin metabolism characterized by
decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and
methylcobalamin (MeCbl). It is due to accumulation of free cobalamin
in lysosomes, thus hindering its conversion to cofactors. Clinical
features include developmental delay, stomatitis, glossitis, seizures and
methylmalonic aciduria responsive to vitamin B12.
Note: The disease is caused by mutations affecting the gene represented
in this entry.
Sequence similarities Belongs to the LIMR family. LMBRD1 subfamily.
Sequence caution The sequence AAK26247.1 differs from that shown. Reason: Frameshift
at position 137.
Ontologies
Keywords
Biological process Host-virus interaction
Transport
Cellular component Lysosome
Membrane
Coding sequence
diversity
Alternative splicing
Polymorphism
Domain Transmembrane
Transmembrane helix
Ligand Cobalamin
Cobalt
PTM Glycoprotein
Phosphoprotein
Technical term Complete proteome
Reference proteome
Gene Ontology (GO)
Biological_process cobalamin metabolic process
small molecule metabolic process
transport
viral process
vitamin metabolic process
water-soluble vitamin metabolic process
Cellular_component integral component of membrane
lysosomal membrane
Molecular_function cobalamin binding