AMN
entrez
81693
canonical
uniprot
Q9BXJ7
canonical
ensembl
ENSG00000166126
resolver
ensp
ENSP00000299155
resolver
enst
ENST00000299155
resolver
genesymbol
AMN
resolver
hgnc
HGNC:14604
resolver
uniprot
B3KP64
resolver
uniprot
Q6UX83
resolver
uniprot_entry
AMNLS_HUMAN
resolver
uniprot_entry
B3KP64_HUMAN
resolver
uniprot_sec
Q6UX83
resolver
amino_acid_sequence
MGVLGRVLLWLQLCALTQAVSKLWVPNTDFDVAANWSQNRTPCAGGAVEFPADKMVSVLVQEGHAVSDMLLPLDGELVLASGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRSGDEAPGLFFVDAERVPCRHDDVFFPPSASFRVGLGPGASPVRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSGCVCGNAEAQPWICAALLQPLGGRCPQAACHSALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLGLPQYHGLQVAVSKVPRSSRLREADTEIQVVLVENGPETGGAGRLARALLADVAENGEALGVLEATMRESGAHVWGSSAAGLAGGVAAAVLLALLVLLVAPPLLRRAGRLRWRRHEAAAPAGAPLGFRNPVFDVTASEELPLPRRLSLVPKAAADSTSHSYFVNPLFAGAEAEA
uniprot
proteins
disease_involvement
DISEASE: Imerslund-Grasbeck syndrome 2 (IGS2) [MIM:618882]: A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. {ECO:0000269|PubMed:12590260, ECO:0000269|PubMed:22631584, ECO:0000269|PubMed:22929189, ECO:0000269|PubMed:26040326, ECO:0000269|PubMed:29402915, ECO:0000269|PubMed:30523278}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:12590260, ECO:0000269|PubMed:14576052, ECO:0000269|PubMed:26040326, ECO:0000269|PubMed:29402915, ECO:0000269|PubMed:30523278, ECO:0000305|PubMed:22631584, ECO:0000305|PubMed:26040326}.
uniprot
proteins
mass_dalton
47754
uniprot
proteins
mutagenesis
MUTAGEN 35; /note="N->Q: Loss of expression at the cell membrane."; /evidence="ECO:0000269|PubMed:30523278"; MUTAGEN 37; /note="S->A: No effect."; /evidence="ECO:0000269|PubMed:30523278"; MUTAGEN 59; /note="L->P: Loss of interaction with CUBN and strongly reduced CUBN expression at the cell surface."; /evidence="ECO:0000269|PubMed:29402915"; MUTAGEN 254; /note="G->E: Loss of interaction with CUBN and strongly reduced CUBN expression at the cell surface."; /evidence="ECO:0000269|PubMed:29402915
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:14576052}.; PTM: A soluble form arises by proteolytic removal of the membrane anchor. {ECO:0000269|PubMed:14576052}.
uniprot
proteins
pubmed
11279523
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12590260
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14576052
uniprot
proteins
pubmed
22631584
uniprot
proteins
pubmed
22929189
uniprot
proteins
pubmed
26040326
uniprot
proteins
pubmed
29402915
uniprot
proteins
pubmed
30523278
uniprot
proteins
sequence_length
453
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Apical cell membrane {ECO:0000269|PubMed:14576052}; Single-pass type I membrane protein {ECO:0000305|PubMed:30523278}. Cell membrane {ECO:0000269|PubMed:14576052, ECO:0000269|PubMed:29402915, ECO:0000269|PubMed:30523278}; Single-pass type I membrane protein {ECO:0000305}. Endosome membrane {ECO:0000305|PubMed:14576052}. Membrane, coated pit {ECO:0000305|PubMed:14576052}.; SUBCELLULAR LOCATION: [Soluble protein amnionless]: Secreted {ECO:0000269|PubMed:14576052}.
uniprot
proteins
transmembrane_region
TRANSMEM 358..378; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins