Protein detail
LMBD1
Lysosomal cobalamin transport escort protein LMBD1 (LMBD1) (HDAg-L-interacting protein NESI) (LMBR1 domain-containing protein 1) (Nuclear export signal-interacting protein)
Protein symbol LMBD1 | UniProt ID | EVMP score 0.25 |
Frequency 2 | Transmembrane count 9 | Protein classification Disease related genesHuman disease related genesPotential drug targetsPredicted membrane proteinsTransporters |
Basic Information
Protein Names
Lysosomal cobalamin transport escort protein LMBD1 (LMBD1) (HDAg-L-interacting protein NESI) (LMBR1 domain-containing protein 1) (Nuclear export signal-interacting protein)
Protein Class
Disease related genesHuman disease related genesPotential drug targetsPredicted membrane proteinsTransporters
Protein Function
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of cofactor/vitamin metabolism
- Transporters
- Potential drug targets
- Disease related genes
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of amino acid metabolism
Transmembrane
11..31; Helical; Name=1; 51..71; Helical; Name=2; 101..121; Helical; Name=3; 145..165; Helical; Name=4; 189..209; Helical; Name=5; 306..326; Helical; Name=6; 365..385; Helical; Name=7; 409..429; Helical; Name=8; 487..507; Helical; Name=9
Transmembrane Count
9
Ensembl
Entrez Gene Symbol
Gene Synonym
bA810I22.1C6orf209cblFFLJ11240
Gene Description
LMBR1 domain containing 1
Chromosome
6
Position
69672757-69867236
Frequency
2
EVMP Score
0.25
Fluorescence & Localization
Tissue Specificlymphoid tissueCell SpecificB-cellsSingle-Nuclei Brain Specificcentral nervous system macrophage
Function & Pathway
Protein Function
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of cofactor/vitamin metabolism
- Transporters
- Potential drug targets
- Disease related genes
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of amino acid metabolism
Cellular Component
Molecular Function
Biological Process
Reactome
- R-hsa-5619084 abc transporter disorders
- R-hsa-196741 cobalamin cbl vitamin b12 transport and metabolism
- R-hsa-3296469 defects in cobalamin b12 metabolism
- R-hsa-3296482 defects in vitamin and cofactor metabolism
- R-hsa-5668914 diseases of metabolism
- R-hsa-5619115 disorders of transmembrane transporters
- R-hsa-196854 metabolism of vitamins and cofactors
- R-hsa-196849 metabolism of water soluble vitamins and cofactors
- R-hsa-9758890 transport of rcbl within the body
- R-hsa-9758881 uptake of dietary cobalamins into enterocytes
Mediation Categories
Adhesion and uptake mediationClinical-translation mediationFusion and delivery mediationMetabolism mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
14 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| plasma_membrane | plasma_membrane | OmniPath | No | No | No | No | No |
| cell_surface | cell_surface | Surfaceome | No | No | No | No | No |
| cell_surface | cell_surface | OmniPath | No | No | No | No | No |
| transmembrane | transmembrane_predicted | Phobius | No | No | No | No | No |
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Regulatory Interaction Network
0 records.
Protein Complex Composition
Sequence, Structure & Domains
Sequences
Length
540
Mass
61,389
Sequence
MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALITSALLPVDIFLVSYMKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTALKYTLGFVVICALLLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA
Alternative Products
Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9NUN5-1; Sequence=Displayed; Name=2; IsoId=Q9NUN5-2; Sequence=VSP_021630, VSP_036540; Name=3; Synonyms=NESI; IsoId=Q9NUN5-3; Sequence=VSP_021629; Name=4; IsoId=Q9NUN5-4; Sequence=VSP_036539, VSP_021630, VSP_036540
Alternative Sequence
1..204; Missing (in isoform 4); 1..73; Missing (in isoform 3); 362..392; VFPLDYILITIIIMYFIFTSMAGIRNIGIWF -> EFEILAYGSFGLDYIKSEEVEPGPKHSFFSA (in isoform 2 and isoform 4); 393..540; Missing (in isoform 2 and isoform 4)
3D Structural Models
Domain & Motif Annotations
Motif
232..235; YERL motif; mediates interaction with adapter protein complex 2 and is essential for its function in clathrin-mediated endocytosis of INSR; 294..297; WTKF motif; mediates interaction with adapter protein complex 2 and is essential for its function in clathrin-mediated endocytosis of INSR
Protein Families
- LIMR family
- LMBRD1 subfamily
Sequence Similarities
Belongs to the LIMR family. LMBRD1 subfamily.