AMN
Protein amnionless
Also known as: amnionless, AMNLS_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BXJ7
- Gene
- AMN
- Ensembl
- ENSG00000166126
- Chromosome
- 14
- Canonical length
- 453 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins
- Secretome location
- Secreted in other tissues
OverviewNCBI Gene
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. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
453 residues, UniProt reviewed canonical sequence.
>Q9BXJ7|AMN
1 MGVLGRVLLW LQLCALTQAV SKLWVPNTDF DVAANWSQNR TPCAGGAVEF PADKMVSVLV
61 QEGHAVSDML LPLDGELVLA SGAGFGVSDV GSHLDCGAGE PAVFRDSDRF SWHDPHLWRS
121 GDEAPGLFFV DAERVPCRHD DVFFPPSASF RVGLGPGASP VRVRSISALG RTFTRDEDLA
181 VFLASRAGRL RFHGPGALSV GPEDCADPSG CVCGNAEAQP WICAALLQPL GGRCPQAACH
241 SALRPQGQCC DLCGAVVLLT HGPAFDLERY RARILDTFLG LPQYHGLQVA VSKVPRSSRL
301 READTEIQVV LVENGPETGG AGRLARALLA DVAENGEALG VLEATMRESG AHVWGSSAAG
361 LAGGVAAAVL LALLVLLVAP PLLRRAGRLR WRRHEAAAPA GAPLGFRNPV FDVTASEELP
421 LPRRLSLVPK AAADSTSHSY FVNPLFAGAE AEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against AMN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 87 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 87 nTPM
- liver: 55 nTPM
- kidney: 52 nTPM
- duodenum: 41 nTPM
- colon: 37 nTPM
- stomach: 7.5 nTPM
Single-cell type
- enterocytes: 1,883 nCPM
- colonocytes: 602 nCPM
- epididymal efferent duct absorptive cells: 400 nCPM
- goblet cells: 297 nCPM
- enteric transient amplifying cells: 238 nCPM
- breast lactating cells: 149 nCPM
Immune cell
- plasmacytoid DC: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- medulla oblongata: 0.8 nTPM
- pons: 0.8 nTPM
- white matter: 0.8 nTPM
- basal ganglia: 0.6 nTPM
- hippocampal formation: 0.6 nTPM
- cerebral cortex: 0.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AMN.
Disease | AllUniProt
Conditions AMN is implicated in, by any mechanism.
- Imerslund-Grasbeck syndrome 2 (IGS2) MIM:618882
Disease | GeneticClinVar
77 pathogenic / likely-pathogenic of 711 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Imerslund-Grasbeck syndrome
- Imerslund-Grasbeck syndrome type 2
- Imerslund-Grasbeck syndrome type 1
- Cobalamin deficiency
- Megaloblastic anemia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.82
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.61
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cobalamin metabolic process
- cobalamin transport
- Golgi to plasma membrane protein transport
- intracellular protein localization
- receptor-mediated endocytosis
- renal protein absorption
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Amnionless
- Amnionless
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AMN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AMN as an antibody target. Whether an autoantibody or antibody against AMN could matter depends on whether native AMN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AMN is annotated at the cell surface, where native AMN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label AMN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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