InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AMN

Summary

InnateDB Protein

IDBP-21313.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AMN

Protein Name

amnionless homolog (mouse)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000299155

InnateDB Gene

IDBG-21311 (AMN)

Protein Structure

UniProt Annotation

Function

Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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. {ECO:0000269PubMed:12590260, ECO:0000269PubMed:14576052}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006898	receptor-mediated endocytosis
GO:0007275	multicellular organismal development
GO:0007588	excretion
GO:0008104	protein localization
GO:0009235	cobalamin metabolic process
GO:0015889	cobalamin transport
GO:0042157	lipoprotein metabolic process
GO:0043001	Golgi to plasma membrane protein transport
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0010008	endosome membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0030139	endocytic vesicle
GO:0045177	apical part of cell
GO:0070062	extracellular vesicular exosome