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)
Entry name LMBD1 | UniProt ID | EVMP confidence score 0.25 |
Supporting publications (n) 2 | Transmembrane count 9 | Protein classification Disease related genesHuman disease related genesPotential drug targetsPredicted membrane proteinsTransporters |
EVMP confidence score
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40Basic Information13
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 (5)
Disease related genesHuman disease related genesPotential drug targetsPredicted membrane proteinsTransporters
Protein Function (5)
- 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 (4)
bA810I22.1C6orf209cblFFLJ11240
Gene Description
LMBR1 domain containing 1
Chromosome
6
Position
69672757-69867236
Supporting publications (n)
2
EVMP confidence score
0.25
Fluorescence & Localization3
Tissue Specificlymphoid tissueCell SpecificB-cellsSingle-Nuclei Brain Specificcentral nervous system macrophage
Function & Pathway7
Protein Function (5)
- 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 (7)
Molecular Function (6)
Biological Process (3)
Reactome (10)
- 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 (4)
Adhesion and uptake mediationClinical-translation mediationFusion and delivery mediationMetabolism mediation
Relations & Evidence16
Ligand-Receptor Signaling (14)
14 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
| transmembrane | transmembrane | UniProt_location | No | No | No | No | No |
| transmembrane | transmembrane | UniProt_topology | No | No | No | No | No |
| transmembrane | transmembrane | UniProt_keyword | No | No | No | No | No |
| transmembrane | transmembrane | TopDB | No | No | No | No | No |
| transmembrane | transmembrane | Ramilowski_location | No | No | No | No | No |
| transmembrane | transmembrane | OmniPath | No | No | No | No | No |
| plasma_membrane | plasma_membrane | UniProt_location | No | No | No | No | No |
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Protein Complex Composition (1)
Sequence, Structure & Domains8
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)
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 (2)
- LIMR family
- LMBRD1 subfamily
Sequence Similarities
Belongs to the LIMR family. LMBRD1 subfamily.
Supporting Publications2
| PMID | Title | Abstract |
|---|---|---|
| 32795414 | Extracellular Vesicle and Particle Biomarkers Define Multiple Human Cancers. | Among traditional exosome markers, CD9, HSPA8, ALIX, and HSP90AB1 represent pan-EVP markers, while ACTB, MSN, and RAP1B are novel pan-EVP markers. |
| 41216884 | Extracellular Vesicles From Multiple Sclerosis White Matter Exhibit Synaptic, Mitochondrial, Complement and Ageing-Related Pathway Dysregulation. | No abstract available |