InnateDB Protein
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IDBP-21313.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AMN
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Protein Name
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amnionless homolog (mouse)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000299155
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InnateDB Gene
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IDBG-21311 (AMN)
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Protein Structure
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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}.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BXJ7
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PhosphoSite |
PhosphoSite-Q9BXJ7
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TrEMBL |
B3KP64
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UniProt Splice Variant |
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Entrez Gene |
81693
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UniGene |
Hs.709485
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RefSeq |
NP_112205
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HUGO |
HGNC:14604
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OMIM |
605799
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CCDS |
CCDS9977
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HPRD |
09314
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IMGT |
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EMBL |
AF328788
AK055802
AL117209
AY358468
CH471061
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GenPept |
AAK28532
AAQ89949
BAG51576
EAW81798
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