Property Summary

NCBI Gene PubMed Count 21
Grant Count 113
R01 Count 36
Funding $16,990,125.2
PubMed Score 1503.97
PubTator Score 499.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
active Crohn's disease 1.319 0.016

Synonym

Accession P27352 B2RAN8 B4DVZ1
Symbols IF
INF
IFMH
TCN3

Gene

GIF

PDB

2CKT   2PMV   3KQ4  

 GO Function (1)

Gene RIF (11)

PMID Text
26485402 the present findings reveal that High-altitude polycythemia -induced gastric mucosal lesion inspires the protection responses by up-regulating APOA4 and APOC3, and down-regulating GIF.
23402911 study reports that FUT2 secretor variant influences GIF secretion in B12 deficient cases bearing GIF heterozygous mutations, in absence of H. pylori related gastritis
22929189 Our genetic screening of 154 families of patients with inherited cobalamin malabsorption revealed population-specific mutations, mutational hotspots, and functionally distinct regions in the three causal genes: CUBN, AMN, and GIF.
22556038 Acute lymphoblastic leukemia and vitamin B12 deficiency secondary to a gastric intrinsic factor gene mutation
20615890 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20237569 crystal structure of the complex between IF-Cbl and the cubilin IF-Cbl-binding-region (CUB(5-8)) determined at 3.3 A resolution
19036097 a specific GIF mutation to be responsible for all Juvenile cobalamin deficiency cases of West-African origin so far was identified
18338170 The Q5R mutation of the intrinsic factor gene predisposes to adult-onset pernicious anemia & other causes of low vitamin B12. In this mutation, intrinsic factor secretion is preserved but B12 absorption may be impaired.
17954916 possible basis for the lack of interchangeability of human and rat IF receptors is presented
15736970 The parameters obtained for ligand and receptor binding in this study indicate that both full-length 50-kDA intrinsic factor and its 30-kDa and 20-kDa fragments may be involved in assimilation of cobalamin.
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AA Sequence

MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLMENSVTSSAYPNPSILIAMNLAGAYNLK      1 - 70
AQKLLTYQLMSSDNNDLTIGQLGLTIMALTSSCRDPGDKVSILQRQMENWAPSSPNAEASAFYGPSLAIL     71 - 140
ALCQKNSEATLPIAVRFAKTLLANSSPFNVDTGAMATLALTCMYNKIPVGSEEGYRSLFGQVLKDIVEKI    141 - 210
SMKIKDNGIIGDIYSTGLAMQALSVTPEPSKKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLKGKTY    211 - 280
LDVPQVTCSPDHEVQPTLPSNPGPGPTSASNITVIYTINNQLRGVELLFNETINVSVKSGSVLLVVLEEA    281 - 350
QRKNPMFKFETTMTSWGLVVSSINNIAENVNHKTYWQFLSGVTPLNEGVADYIPFNHEHITANFTQY       351 - 417
//

Text Mined References (23)

PMID Year Title
26485402 2015 Transcriptome Reveals 1400-Fold Upregulation of APOA4-APOC3 and 1100-Fold Downregulation of GIF in the Patients with Polycythemia-Induced Gastric Injury.
23402911 2013 Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant.
22929189 2012 Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
22556038 2012 Acute lymphoblastic leukemia and vitamin B12 deficiency secondary to a gastric intrinsic factor gene mutation.
21822266 2011 Exome sequencing supports a de novo mutational paradigm for schizophrenia.
20615890 2010 A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk.
20237569 2010 Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.
19036097 2009 Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF.
18338170 2008 Role of (Glu --> Arg, Q5R) mutation of the intrinsic factor in pernicious anemia and other causes of low vitamin B12.
17954916 2007 Crystal structure of human intrinsic factor: cobalamin complex at 2.6-A resolution.
More...