Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person UniProt:Q9NUN5 LMBRD1
| Class:Id | ReferenceGeneProduct:235239 |
|---|---|
| _chainChangeLog | chain:1-540 added on Fri February 6 2015 |
| _displayName | UniProt:Q9NUN5 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 |
| 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 |
| (isoformParent) | [ReferenceIsoform:235240] UniProt:Q9NUN5-2 LMBRD1 [Homo sapiens] [ReferenceIsoform:235241] UniProt:Q9NUN5-3 LMBRD1 [Homo sapiens] [ReferenceIsoform:394712] UniProt:Q9NUN5-4 LMBRD1 [Homo sapiens] [ReferenceIsoform:414802] UniProt:Q9NUN5-1 LMBRD1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:2980937] LMBRD1 [lysosomal membrane] [Homo sapiens] [EntityWithAccessionedSequence:3315419] LMBRD1 L352fs*19 [lysosomal membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:3315408] L-glutamine 360 replaced with L-lysine [ReplacedResidue:3315420] L-proline 357 replaced with L-leucine [ReplacedResidue:3315425] L-tyrosine 367 replaced with L-isoleucine [ReplacedResidue:3315426] L-valine 362 replaced with L-phenylalanine [ReplacedResidue:3315427] L-asparagine 353 replaced with L-isoleucine [ReplacedResidue:3315428] L-isoleucine 368 replaced with L-phenylalanine [ReplacedResidue:3315429] L-methionine 354 replaced with L-cysteine [ReplacedResidue:3315430] L-leucine 359 replaced with L-tyrosine [ReplacedResidue:3315431] L-leucine 358 replaced with L-tyrosine [ReplacedResidue:3315436] L-proline 364 replaced with L-leucine |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9NUN5 LMBRD1 (235239)
