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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]
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| 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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