Amnionless

AMN
Identifiers
Aliases	AMN, PRO1028, amnionless, Amnionless, amnion associated transmembrane protein, IGS2
External IDs	OMIM: 605799 MGI: 1934943 HomoloGene: 12804 GeneCards: AMN
Gene location (Human) Chr. Chromosome 14 (human) Band 14q32.32 Start 102,922,663 bp End 102,933,596 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12 F1|12 60.94 cM Start 111,237,529 bp End 111,242,860 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa duodenum right lobe of liver vena cava kidney body of tongue pancreatic ductal cell right uterine tube parotid gland pylorus Top expressed in intestinal villus yolk sac ileum proximal tubule kidney jejunum primitive streak duodenum sexually immature organism spermatid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling receptor binding Cellular component extracellular exosome endosome membrane membrane integral component of membrane apical part of cell clathrin-coated pit endosome apical plasma membrane plasma membrane extracellular space endocytic vesicle brush border membrane protein-containing complex Biological process cobalamin metabolic process multicellular organism development protein localization receptor-mediated endocytosis cobalamin transport Golgi to plasma membrane protein transport excretion protein transport high-density lipoprotein particle clearance transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 81693 93835 Ensembl ENSG00000166126 ENSMUSG00000021278 UniProt Q9BXJ7 Q99JB7 RefSeq (mRNA) NM_030943 NM_033603 RefSeq (protein) NP_112205 NP_291081 Location (UCSC) Chr 14: 102.92 – 102.93 Mb Chr 12: 111.24 – 111.24 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Amnionless is a protein that in humans is encoded by the AMN gene.

Function

A complex of amnionless and cubilin forms the cubam receptor.

The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila.

Clinical significance

Mutations of the AMN gene may cause Imerslund–Gräsbeck syndrome.

External links

• Human AMN genome location and AMN gene details page in the UCSC Genome Browser.

Further reading

• Kozyraki R, Gofflot F (2008). "Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless". Curr. Pharm. Des. 13 (29): 3038–46. doi:10.2174/138161207782110507. PMID 17979745.
• Wang X, Bornslaeger EA, Haub O, et al. (1996). "A candidate gene for the amnionless gastrulation stage mouse mutation encodes a TRAF-related protein". Dev. Biol. 177 (1): 274–90. doi:10.1006/dbio.1996.0162. PMID 8660894.
• Tomihara-Newberger C, Haub O, Lee HG, et al. (1999). "The amn gene product is required in extraembryonic tissues for the generation of middle primitive streak derivatives". Dev. Biol. 204 (1): 34–54. doi:10.1006/dbio.1998.9034. PMID 9851841.
• Dunn NR, Hogan BL (2001). "How does the mouse get its trunk?". Nat. Genet. 27 (4): 351–2. doi:10.1038/86829. PMID 11279507. S2CID 23094701.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Tanner SM, Aminoff M, Wright FA, et al. (2003). "Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia". Nat. Genet. 33 (3): 426–9. doi:10.1038/ng1098. PMID 12590260. S2CID 30816649.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• Fyfe JC, Madsen M, Højrup P, et al. (2004). "The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless" (PDF). Blood. 103 (5): 1573–9. doi:10.1182/blood-2003-08-2852. PMID 14576052. S2CID 2223309.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Tsang HT, Connell JW, Brown SE, et al. (2006). "A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex". Genomics. 88 (3): 333–46. doi:10.1016/j.ygeno.2006.04.003. PMID 16730941.