Amnionless

AMN
Identifiers
Aliases	AMN, PRO1028, amnionless, Amnionless, amnion associated transmembrane protein, IGS2
External IDs	OMIM: 605799; MGI: 1934943; HomoloGene: 12804; GeneCards: AMN; OMA:AMN - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	102,933,596 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	111,242,860 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; jejunal mucosa; ; duodenum; ; right lobe of liver; ; vena cava; ; human kidney; ; mucosa of sigmoid colon; ; body of tongue; ; pancreatic ductal cell; ; right uterine tube;
	Top expressed in
	intestinal villus; ; yolk sac; ; right kidney; ; ileum; ; epithelium of small intestine; ; proximal tubule; ; human kidney; ; jejunum; ; migratory enteric neural crest cell; ; primitive streak;
	More reference expression data
	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
	81693
	93835
	ENSG00000166126
	ENSMUSG00000021278
	Q9BXJ7
	Q99JB7
	NM_030943
	NM_033603
	NP_112205
	NP_291081
	Wikidata
View/Edit Human	View/Edit Mouse

Amnionless is a protein that in humans is encoded by the AMN gene.^[5]^[6]

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.^[6]

Clinical significance

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

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000166126 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021278 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Kalantry S, Manning S, Haub O, Tomihara-Newberger C, Lee HG, Fangman J, Disteche CM, Manova K, Lacy E (Mar 2001). "The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain". Nat Genet. 27 (4): 412–6. doi:10.1038/86912. PMID 11279523. S2CID 12758039.
^ ^a ^b "Entrez Gene: AMN amnionless homolog (mouse)".

External links

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

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.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166126 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021278 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11279523-5] Kalantry S, Manning S, Haub O, Tomihara-Newberger C, Lee HG, Fangman J, Disteche CM, Manova K, Lacy E (Mar 2001). "The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain". Nat Genet. 27 (4): 412–6. doi:10.1038/86912. PMID 11279523. S2CID 12758039.

[entrez-6] "Entrez Gene: AMN amnionless homolog (mouse)".

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Amnionless

Function

Clinical significance

References

External links

Further reading

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