Homo sapiens Protein: GIF
Summary
InnateDB Protein IDBP-48677.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GIF
Protein Name gastric intrinsic factor (vitamin B synthesis)
Synonyms IF; IFMH; INF; TCN3;
Species Homo sapiens
Ensembl Protein ENSP00000257248
InnateDB Gene IDBG-48675 (GIF)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Secreted.
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.
Tissue Specificity Gastric mucosa.
Comments
Interactions
Number of Interactions 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]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0031419 cobalamin binding
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006824 cobalt ion transport
GO:0009235 cobalamin metabolic process
GO:0015889 cobalamin transport
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005768 endosome
GO:0005902 microvillus
GO:0016324 apical plasma membrane
GO:0043202 lysosomal lumen
Protein Structure and Domains
PDB ID
InterPro IPR002157 Cobalamin (vitamin B12)-binding transporter, eukaryotic
PFAM PF01122
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P27352
PhosphoSite PhosphoSite-P27352
TrEMBL
UniProt Splice Variant
Entrez Gene 2694
UniGene Hs.110014
RefSeq NP_005133
HUGO HGNC:4268
OMIM 609342
CCDS CCDS7977
HPRD 02024
IMGT
EMBL AK301295 AK314275 AP002347 BC037958 M63154 X76562
GenPept AAA66354 AAH37958 BAG36935 BAG62853 CAA54061