InnateDB Protein
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IDBP-48677.5
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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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GIF
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Protein Name
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gastric intrinsic factor (vitamin B synthesis)
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Synonyms
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IF; IFMH; INF; TCN3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000257248
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InnateDB Gene
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IDBG-48675 (GIF)
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Protein Structure
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Function |
Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis.
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Subcellular Localization |
Secreted.
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Disease Associations |
Hereditary intrinsic factor deficiency (IFD) [MIM:261000]: Autosomal recessive disorder characterized by megaloblastic anemia. {ECO:0000269PubMed:15738392}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Gastric mucosa.
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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 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
|
Protein-Protein |
3
[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 |
IPR002157
Cobalamin (vitamin B12)-binding transporter, eukaryotic
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PFAM |
PF01122
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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 |
P27352
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PhosphoSite |
PhosphoSite-P27352
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2694
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UniGene |
Hs.110014
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RefSeq |
NP_005133
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HUGO |
HGNC:4268
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OMIM |
609342
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CCDS |
CCDS7977
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HPRD |
02024
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IMGT |
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EMBL |
AK301295
AK314275
AP002347
BC037958
M63154
X76562
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GenPept |
AAA66354
AAH37958
BAG36935
BAG62853
CAA54061
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