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2694 CBLIF

2694

CBLIF

cobalamin binding intrinsic factor

protein-coding

Homo sapiens

基因描述

Type Description
Definition cobalamin binding intrinsic factor

研究结论

Date Results Publications
2019-03-30 12:47:00 Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation. 29368379
2018-08-11 11:03:00 The gastric intrinsic factor (GIF) 290C heterozygous/fucosyltransferase 2 (secretor status included) protein (FUT2) rs601338 secretor variant combined genotype was indicated in 6 of the 37 neural tube defects (NTDs) fetuses. 28742214
2016-06-11 10:06:00 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. 26485402
2013-11-16 11:51:00 study reports that FUT2 secretor variant influences GIF secretion in B12 deficient cases bearing GIF heterozygous mutations, in absence of H. pylori related gastritis 23402911
2013-02-16 11:34:00 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. 22929189

名称对应

Type IDs
Synonymous GIF, IF, IFMH, INF, TCN3
Gene
UniProtKB-ID: IF_HUMAN
UniprotKB: P27352
UniParc: UPI000206520C, UPI0000001C67
EMBL: BC037958, X76562, AK301295, AP002347, M63154, AK314275
Ensembl: ENSG00000134812
KO: hsa:2694
Nucleutide sequences
EMBL-CDS: BAG36935.1, AAH37958.1, AAA66354.1, CAA54061.1, BAG62853.1
Ensembl_TRS: ENST00000257248
Protein sequencees
Ensembl_PRO: ENSP00000257248
RefSeq: NP_005133.2, XP_011543241.1
Others
UniRef100: UniRef100_P27352
UniRef90: UniRef90_P27352
UniRef50: UniRef50_P27352
UniGene: Hs.110014
CCDS: CCDS7977.1

全选

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研究热度

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