Human Gene GIF (uc001noi.3) Description and Page Index
Description: Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA. RefSeq Summary (NM_005142): This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC037958.1, X76562.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2157511 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257248.3/ ENSP00000257248.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr11:59,596,746-59,612,974 Size: 16,229 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr11:59,596,957-59,612,926 Size: 15,970 Coding Exon Count: 9
ID:IF_HUMAN DESCRIPTION: RecName: Full=Gastric intrinsic factor; AltName: Full=Intrinsic factor; Short=IF; Short=INF; Flags: Precursor; 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. SUBUNIT: Interacts with CUBN (via CUB domains). SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Gastric mucosa. DISEASE: Defects in GIF are the cause of hereditary intrinsic factor deficiency (IFD) [MIM:261000]; also known as congenital pernicious anemia. IFD is an autosomal recessive disorder characterized by megaloblastic anemia. SIMILARITY: Belongs to the eukaryotic cobalamin transport proteins family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GIF"; WEB RESOURCE: Name=Wikipedia; Note=Intrinsic factor entry; URL="http://en.wikipedia.org/wiki/Intrinsic_factor";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): GIF CDC HuGE Published Literature: GIF
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P27352
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.