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Details on Person UniProt:Q9NUN5-2 LMBRD1
| Class:Id | ReferenceIsoform:235240 |
|---|---|
| _chainChangeLog | chain:1-540 added on Fri February 6 2015 |
| _displayName | UniProt:Q9NUN5-2 LMBRD1 |
| _timestamp | 2024-11-03 20:19:55 |
| chain | chain:1-540 |
| checksum | CC7578B0F5FD7BA6 |
| comment | FUNCTION Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). Acts as an adapter protein which plays an important role in mediating and regulating the internalization of the insulin receptor (INSR) (By similarity). Involved in clathrin-mediated endocytosis of INSR via its interaction with adapter protein complex 2 (By similarity). Essential for the initiation of gastrulation and early formation of mesoderm structures during embryogenesis (By similarity).FUNCTION (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV).SUBUNIT (Microbial infection) Interacts with hepatitis delta virus NES (HDAg-L).SUBUNIT Interacts with ABCD4; this interaction induces the translocation of ABCD4 from the endoplasmic reticulum to the lysosome (PubMed:27456980, PubMed:28572511, PubMed:33845046). Interacts with ABCD4 and MMACHC; this interaction ensures the transport of cobalamin from the lysosome to the cytoplasm (PubMed:25535791). Interacts with INSR, adapter protein complex 2 and clathrin heavy chain (By similarity).INTERACTION Isoform 3 is expressed in liver.PTM N-glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the LIMR family. LMBRD1 subfamily. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="16"Lysosomal cobalamin transport escort protein LMBD1 shortName evidence="14"LMBD1 alternativeName: HDAg-L-interacting protein NESI alternativeName: LMBR1 domain-containing protein 1 alternativeName: Nuclear export signal-interacting protein |
| geneName | LMBRD1 C6orf209 NESI BM-021 CD001 MSTP044 |
| identifier | Q9NUN5 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cell membrane Cobalamin Cobalt Cytoplasmic vesicle Developmental protein Endocytosis Endoplasmic reticulum Gastrulation Glycoprotein Host-virus interaction Lysosome Membrane Phosphoprotein Proteomics identification Reference proteome Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | LMBRD1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9004210] ENSEMBL:ENSG00000168216 LMBRD1 [Homo sapiens] |
| secondaryIdentifier | LMBD1_HUMAN A8K204 E1P531 Q5VUN6 Q86Y70 Q96FW4 Q9BY56 Q9NZD6 |
| sequenceLength | 540 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q9NUN5-2 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9NUN5-2 LMBRD1 (235240)
