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Details on Person UniProt:Q9BXJ7 AMN
| Class:Id | ReferenceGeneProduct:84923 |
|---|---|
| _chainChangeLog | signal peptide:1-19 added on Sat February 7 2015;chain:20-453 added on Sat February 7 2015;chain:20- for 84923 added on Fri August 9 2019 |
| _displayName | UniProt:Q9BXJ7 AMN |
| _timestamp | 2024-11-03 20:04:18 |
| chain | signal peptide:1-19 chain:20-453 chain:20- |
| checksum | 40AA14EF186A6009 |
| comment | FUNCTION Membrane-bound component of the endocytic receptor formed by AMN and CUBN (PubMed:14576052, PubMed:29402915, PubMed:30523278). Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:14576052, PubMed:29402915). The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052, PubMed:26040326). Required for normal CUBN-mediated protein transport in the kidney (Probable).SUBUNIT Interacts (via extracellular region) with CUBN/cubilin, giving rise to a huge complex containing one AMN chain and three CUBN chains.INTERACTION At least 5 isoforms, 1, 2, 3, 4 and 5, are produced.TISSUE SPECIFICITY Detected in proximal tubules in the kidney cortex (at protein level) (PubMed:14576052, PubMed:29402915). Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.DOMAIN The complex formed by AMN and CUBN is composed of a 400 Angstrom long stem and a globular crown region. The stem region is probably formed by AMN and the CUBN N-terminal region, including the EGF-like domains. The crown is probably formed by the CUBN CUB domains.PTM N-glycosylated.PTM A soluble form arises by proteolytic removal of the membrane anchor.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS The role of Amn in embryonic development seems to be species specific. In mice, null mutations lead to embryonic lethality. Human mutations give rise to much milder symptoms. |
| description | recommendedName: Protein amnionless component recommendedName: Soluble protein amnionless /component |
| geneName | AMN UNQ513/PRO1028 |
| identifier | Q9BXJ7 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative promoter usage Cell membrane Coated pit Developmental protein Direct protein sequencing Disease variant Disulfide bond Endosome Glycoprotein Membrane Protein transport Proteomics identification Reference proteome Secreted Signal Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | AMN |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997575] ENSEMBL:ENSG00000166126 AMN [Homo sapiens] |
| secondaryIdentifier | AMNLS_HUMAN Q6UX83 |
| sequenceLength | 453 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:413487] UniProt:Q9BXJ7-1 AMN [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:264825] AMN [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:3000133] AMN [endosome membrane] [Homo sapiens] [EntityWithAccessionedSequence:3296484] AMN G5Afs*12 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:3299658] AMN T41I [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:3296459] glycine 5 replaced with L-alanine [ReplacedResidue:3296460] L-leucine 9 replaced with L-cysteine [ReplacedResidue:3296465] L-leucine 13 replaced with L-serine [ReplacedResidue:3296466] L-glutamine 12 replaced with L-serine [ReplacedResidue:3296467] L-cysteine 14 replaced with L-alanine [ReplacedResidue:3296470] L-tryptophan 10 replaced with glycine [ReplacedResidue:3296472] L-arginine 6 replaced with glycine [ReplacedResidue:3296475] L-leucine 11 replaced with L-cysteine [ReplacedResidue:3296478] L-leucine 8 replaced with L-cysteine [ReplacedResidue:3296480] L-alanine 15 replaced with L-histidine |
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No pathways have been reviewed or authored by UniProt:Q9BXJ7 AMN (84923)
