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Aliases for GIF Gene

Aliases for GIF Gene

  • Gastric Intrinsic Factor 2 3 5
  • Gastric Intrinsic Factor (Vitamin B Synthesis) 2 3
  • Intrinsic Factor 3 4
  • IFMH 3 4
  • INF 3 4
  • IF 3 4
  • 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) is a Protein Coding gene. Diseases associated with GIF include intrinsic factor deficiency and congenital intrinsic factor deficiency. Among its related pathways are Metabolism and Infectious disease. 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

Chromosome:
11
Start:
59,829,268 bp from pter
End:
59,845,537 bp from pter
Size:
16,270 bases
Orientation:
Minus strand

Genomic View for GIF Gene

Genes around GIF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 311, Asn 330, Asn 334, and Asn 413
  • Modification sites at PhosphoSitePlus

Other Protein References for GIF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GIF Gene

Domains & Families 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 :
  • Belongs to the eukaryotic cobalamin transport proteins family.
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.
genes like me logo Genes that share phenotypes with GIF: view

Human Phenotype Ontology for GIF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GIF Gene

MGI Knock Outs for GIF:
  • Gif tm1a(KOMP)Wtsi

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
lysosome 5
plasma membrane 5
vacuole 5
cytosol 2
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:0005902 microvillus IDA 8886952
GO:0016324 apical plasma membrane IDA 8886952
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with GIF: view

Pathways & Interactions for GIF Gene

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

Gene Ontology (GO) - Biological Process for GIF Gene

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

No data available for SIGNOR curated interactions for GIF Gene

Drugs & Compounds for GIF Gene

(6) Drugs for GIF Gene - From: DrugBank, HMDB, Novoseek, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyanocobalamin Approved Nutra Transporter, substrate 227
Cobalamin Nutra 227
arginine Nutra 364
glutamine Nutra 144
Cobalt Pharma 155
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:

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 (x52.8).

Protein differential expression in normal tissues from HIPED for GIF Gene

This gene is overexpressed in Pancreatic juice (50.4) and Stomach (17.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GIF: view

Protein tissue co-expression partners for GIF Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GIF 35
  • 99.52 (n)
  • 99.04 (a)
GIF 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gif 35
  • 82.49 (n)
  • 79.62 (a)
oppossum
(Monodelphis domestica)
Mammalia GIF 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GIF 36
  • 64 (a)
OneToOne
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

(1) 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
rs35211634 - 59,845,386(+) AACTC(C/T)GGGTC reference, missense
VAR_022743 Hereditary intrinsic factor deficiency (IFD)
rs35867471 - 59,837,281(+) TCTCA(C/T)TGAGT reference, missense
rs11825834 - 59,843,942(+) GGCTC(C/T)GGCCA reference, missense
rs509950 -- 59,834,311(-) GGAAG(A/G)AAGAA intron-variant

Variation tolerance for GIF Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.73% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(22) MalaCards diseases for GIF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intrinsic factor deficiency
  • congenital intrinsic factor deficiency
congenital intrinsic factor deficiency
  • intrinsic factor deficiency
pernicious anemia
  • addison's anaemia
megaloblastic anemia
  • grasbeck-imerslund syndrome
vitamin metabolic disorder
- elite association - COSMIC cancer census association via MalaCards
Search GIF in MalaCards View complete list of genes associated with diseases

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.

Genatlas disease for GIF Gene

pernicious anemia,congenital

Relevant External Links for GIF

Genetic Association Database (GAD)
GIF
Human Genome Epidemiology (HuGE) Navigator
GIF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Composite organization of the cobalamin binding and cubilin recognition sites of intrinsic factor. (PMID: 15736970) Fedosov S.N. … Petersen T.E. (Biochemistry 2005) 3 25 26
  3. Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. (PMID: 20237569) Andersen C.B. … Andersen G.R. (Nature 2010) 3 23
  4. 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 23
  5. New insights into carrier binding and epithelial uptake of the erythropoietic nutrients cobalamin and folate. (PMID: 16567952) Moestrup S.K. (Curr. Opin. Hematol. 2006) 25 26

Products for GIF Gene

Sources for GIF Gene

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