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Aliases for GIF Gene

Aliases for GIF Gene

  • Gastric Intrinsic Factor (Vitamin B Synthesis) 2 3
  • IF 3 4 6
  • Intrinsic Factor 3 4
  • IFMH 3 4
  • INF 3 4
  • Gastric Intrinsic Factor 3
  • TCN3 3

External Ids for GIF Gene

Previous GeneCards Identifiers for GIF Gene

  • GC11M061990
  • GC11M061110
  • GC11M059372
  • GC11M059353
  • GC11M059596
  • GC11M055944

Summaries for GIF Gene

Entrez Gene Summary for GIF Gene

  • 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]

GeneCards Summary for GIF Gene

GIF (Gastric Intrinsic Factor (Vitamin B Synthesis)) is a Protein Coding gene. Diseases associated with GIF include intrinsic factor deficiency and congenital intrinsic factor deficiency. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include cobalamin binding. An important paralog of this gene is TCN1.

UniProtKB/Swiss-Prot for GIF Gene

  • 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

Gene Wiki entry for GIF Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIF Gene

Genomics for GIF Gene

Regulatory Elements for GIF Gene

Genomic Location for GIF Gene

Start:
59,829,268 bp from pter
End:
59,845,501 bp from pter
Size:
16,234 bases
Orientation:
Minus strand

Genomic View for GIF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GIF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GIF Gene

Proteins for GIF Gene

  • Protein details for GIF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27352-IF_HUMAN
    Recommended name:
    Gastric intrinsic factor
    Protein Accession:
    P27352
    Secondary Accessions:
    • B2RAN8
    • B4DVZ1

    Protein attributes for GIF Gene

    Size:
    417 amino acids
    Molecular mass:
    45416 Da
    Quaternary structure:
    • Interacts with CUBN (via CUB domains).

    Three dimensional structures from OCA and Proteopedia for GIF Gene

    Alternative splice isoforms for GIF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GIF Gene

Proteomics data for GIF Gene at MOPED

Post-translational modifications for GIF Gene

  • Glycosylation at Asn311, Asn330, Asn334, and Asn413
  • Modification sites at PhosphoSitePlus

Other Protein References for GIF Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GIF Gene

Domains for GIF Gene

Protein Domains for GIF Gene

Suggested Antigen Peptide Sequences for GIF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P27352

UniProtKB/Swiss-Prot:

IF_HUMAN :
  • P27352
Family:
  • Belongs to the eukaryotic cobalamin transport proteins family.
genes like me logo Genes that share domains with GIF: view

No data available for Gene Families for GIF Gene

Function for GIF Gene

Molecular function for GIF Gene

GENATLAS Biochemistry: gastric intrinsic factor
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for GIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031419 cobalamin binding IDA 14695536
genes like me logo Genes that share ontologies with GIF: view
genes like me logo Genes that share phenotypes with GIF: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GIF

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for GIF Gene

Localization for GIF Gene

Subcellular locations from UniProtKB/Swiss-Prot for GIF Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GIF Gene COMPARTMENTS Subcellular localization image for GIF gene
Compartment Confidence
endosome 5
extracellular 5
plasma membrane 5
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 14695536
GO:0005768 endosome TAS --
GO:0005902 microvillus IDA 8886952
GO:0016324 apical plasma membrane IDA 8886952
genes like me logo Genes that share ontologies with GIF: view

Pathways for GIF Gene

SuperPathways for GIF Gene

genes like me logo Genes that share pathways with GIF: view

Pathways by source for GIF Gene

Gene Ontology (GO) - Biological Process for GIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006824 cobalt ion transport IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0015889 cobalamin transport IMP 15738392
genes like me logo Genes that share ontologies with GIF: view

Compounds for GIF Gene

(2) HMDB Compounds for GIF Gene

Compound Synonyms Cas Number PubMed IDs
Cobalamin
  • 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole
13408-78-1
Cobalt
  • Co
7440-48-4

(2) Novoseek inferred chemical compound relationships for GIF Gene

Compound -log(P) Hits PubMed IDs
cobalamin 85.8 6
vitamin b12 78.8 8
genes like me logo Genes that share compounds with GIF: view

Transcripts for GIF Gene

Unigene Clusters for GIF Gene

Gastric intrinsic factor (vitamin B synthesis):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GIF

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GIF Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9
SP1: - - -
SP2:
SP3:
SP4:

Relevant External Links for GIF Gene

GeneLoc Exon Structure for
GIF
ECgene alternative splicing isoforms for
GIF

Expression for GIF Gene

mRNA expression in normal human tissues for GIF Gene

mRNA differential expression in normal tissues according to GTEx for GIF Gene

This gene is overexpressed in Stomach (52.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GIF Gene

SOURCE GeneReport for Unigene cluster for GIF Gene Hs.110014

mRNA Expression by UniProt/SwissProt for GIF Gene

P27352-IF_HUMAN
Tissue specificity: Gastric mucosa
genes like me logo Genes that share expressions with GIF: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GIF Gene

Orthologs for GIF Gene

This gene was present in the common ancestor of chordates.

Orthologs for GIF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GIF 35
  • 99.52 (n)
  • 99.04 (a)
GIF 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GIF 35
  • 82.65 (n)
  • 78.42 (a)
GIF 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GIF 35
  • 79.14 (n)
  • 76.26 (a)
GIF 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gif 35
  • 83.29 (n)
  • 81.77 (a)
Gif 16
Gif 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GIF 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GIF 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gif 35
  • 82.49 (n)
  • 79.62 (a)
chicken
(Gallus gallus)
Aves GIF 35
  • 49.7 (n)
  • 40.26 (a)
GIF 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GIF 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gif 35
  • 50.59 (n)
  • 40.82 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for GIF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GIF Gene

ENSEMBL:
Gene Tree for GIF (if available)
TreeFam:
Gene Tree for GIF (if available)

Paralogs for GIF Gene

Paralogs for GIF Gene

Selected SIMAP similar genes for GIF Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GIF: view

Variants for GIF Gene

Sequence variations from dbSNP and Humsavar for GIF Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs482839 -- 59,840,106(+) AGTGG(A/G)AATTT intron-variant
rs482844 -- 59,840,109(+) GGAAA(A/T)TTTTT intron-variant
rs494505 -- 59,838,848(-) aaaaa(A/G)aaaga intron-variant
rs494541 -- 59,838,835(-) gaaaA(A/G)AAAAA intron-variant
rs509950 -- 59,834,311(-) GGAAG(A/G)AAGAA intron-variant

Relevant External Links for GIF Gene

HapMap Linkage Disequilibrium report
GIF
Human Gene Mutation Database (HGMD)
GIF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GIF Gene

Disorders for GIF Gene

(1) OMIM Diseases for GIF Gene (609342)

UniProtKB/Swiss-Prot

IF_HUMAN
  • Hereditary intrinsic factor deficiency (IFD) [MIM:261000]: Autosomal recessive disorder characterized by megaloblastic anemia. {ECO:0000269 PubMed:15738392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for GIF Gene

Disease -log(P) Hits PubMed IDs
anemia megaloblastic 83.3 2
asthma 0 1

Genatlas disease for GIF Gene

pernicious anemia,congenital

Relevant External Links for GIF

Genetic Association Database (GAD)
GIF
Human Genome Epidemiology (HuGE) Navigator
GIF
genes like me logo Genes that share disorders with GIF: view

Publications for GIF Gene

  1. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. (PMID: 14695536) Gordon M.M. … Alpers D.H. (Hum. Mutat. 2004) 3 4 23 48
  2. Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. (PMID: 20237569) Andersen C.B. … Andersen G.R. (Nature 2010) 3 4 23
  3. Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11. (PMID: 2071148) Hewitt J.E. … Alpers D.H. (Genomics 1991) 2 3 4
  4. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (PMID: 15738392) Tanner S.M. … de la Chapelle A. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23
  5. Crystal structure of human intrinsic factor: cobalamin complex at 2.6-A resolution. (PMID: 17954916) Mathews F.S. … Sukumar N. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4 23

Products for GIF Gene

Sources for GIF Gene

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