CBLIF (cobalamin binding intrinsic factor)

2018-11-01  

Identity

HGNC
CBLIF
LOCATION
11q12.1
LOCUSID
2694
ALIAS
GIF,IF,IFMH,INF,TCN3

Other Information

Locus ID:

NCBI: 2694
MIM: 609342
HGNC: 4268
Ensembl: ENSG00000134812

Variants:

dbSNP: 2694
ClinVar: 2694
TCGA: ENSG00000134812
COSMIC: CBLIF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134812ENST00000257248P27352
ENSG00000134812ENST00000525058E9PM21

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in cobalamin (B12) metabolismREACTOMER-HSA-3296469
Defective AMN causes hereditary megaloblastic anemia 1REACTOMER-HSA-3359462
Defective CUBN causes hereditary megaloblastic anemia 1REACTOMER-HSA-3359463
Defective GIF causes intrinsic factor deficiencyREACTOMER-HSA-3359457
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

References

Pubmed IDYearTitleCitations
202375692010Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.22
206158902010A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk.20
179549162007Crystal structure of human intrinsic factor: cobalamin complex at 2.6-A resolution.17
229291892012Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.17
157369702005Composite organization of the cobalamin binding and cubilin recognition sites of intrinsic factor.14
190360972009Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF.8
146955362004A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.5
264854022015Transcriptome Reveals 1400-Fold Upregulation of APOA4-APOC3 and 1100-Fold Downregulation of GIF in the Patients with Polycythemia-Induced Gastric Injury.3
183381702008Role of (Glu --> Arg, Q5R) mutation of the intrinsic factor in pernicious anemia and other causes of low vitamin B12.2
287422142018Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects.1

Citation

Dessen P

CBLIF (cobalamin binding intrinsic factor)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57701/cblif