CBLIF - cobalamin binding intrinsic factor Gene

Also Known as IF; GIF; INF; IFMH; TCN3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2694

About CBLIF

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:59,829,273-59,845,499 (from NCBI)

This gene has 5 transcripts (splice variants), 131 orthologues, 2 paralogues and is associated with 2 phenotypes. Restricted expression toward stomach (RPKM 444.5).

Summary

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]

CBLIF Products (1)

mRNA	Protein	Name
NM_005142.3	NP_005133.2	cobalamin binding intrinsic factor precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables cargo receptor ligand activity	EXP EXP: Inferred from Experiment	17954916	GOA
enables cobalamin binding	IDA IDA: Inferred from direct assay	14695536	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20237569	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cobalamin transport	IMP IMP: Inferred from mutant phenotype	15738392	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	8886952	GOA
located in endosome	IDA IDA: Inferred from direct assay	8886952	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	14695536	GOA
located in microvillus	IDA IDA: Inferred from direct assay	8886952	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CBLIF Protein Structure

Cobalamin_bind

0
100
200
300
417 a.a.

Protein Preferred Names	Protein Names
cobalamin binding intrinsic factor	gastric intrinsic factor (vitamin B synthesis)

CBLIF Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CBLIF	P27352	TMEM237	Homo sapiens	Q96Q45-2	Validated Y2H	32296183
Intra	CBLIF	P27352	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	CBLIF	P27352	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	CBLIF	P27352	SLC22A23	Homo sapiens	A1A5C7-2	Y2H Array	32296183
Intra	CBLIF	P27352	SLC22A23	Homo sapiens	A1A5C7-2	Y2H Prey Pooling	32296183
Intra	CBLIF	P27352	SLC13A4	Homo sapiens	Q9UKG4	Validated Y2H	32296183
Intra	CBLIF	P27352	SLC13A4	Homo sapiens	Q9UKG4	Y2H Array	32296183
Intra	CBLIF	P27352	SLC13A4	Homo sapiens	Q9UKG4	Y2H Prey Pooling	32296183
Intra	CBLIF	P27352	FFAR2	Homo sapiens	O15552	Y2H Prey Pooling	32296183
Intra	CBLIF	P27352	FFAR2	Homo sapiens	O15552	Y2H Array	32296183
Intra	CBLIF	P27352	CUBN	Homo sapiens	O60494	GMS	20237569
Intra	CBLIF	P27352	CUBN	Homo sapiens	O60494	X-Ray Diffraction	20237569
Intra	CBLIF	P27352	SLC7A1	Homo sapiens	P30825	Y2H Prey Pooling	32296183
Intra	CBLIF	P27352	SLC7A1	Homo sapiens	P30825	Validated Y2H	32296183
Intra	CBLIF	P27352	SLC7A1	Homo sapiens	P30825	Y2H Array	32296183
Intra	CBLIF	P27352	SLC7A14	Homo sapiens	Q8TBB6	Validated Y2H	32296183
Intra	CBLIF	P27352	SLC7A14	Homo sapiens	Q8TBB6	Y2H Array	32296183
Intra	CBLIF	P27352	SLC7A14	Homo sapiens	Q8TBB6	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CBLIF Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P73859	Intrinsic Factor/GIF Protein, Human (HEK293, His)	P27352-1 (S19-Y417)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700085AF	Animal-Free Intrinsic Factor/GIF Protein, Human (His)	P27352-1 (M1-Y417)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Intrinsic Factor Deficiency	IFD Pernicious Anemia, Congenital, Due To Defect Of Intrinsic Factor Congenital Intrinsic Factor Deficiency Congenital Pernicious Anemia Due To Defect Of Intrinsic Factor Intrinsic Factor, Congenital Deficiency Of Hereditary Intrinsic Factor Deficiency Congenital Pernicious Anemia Congenital Deficiency Of Intrinsic Factor Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Congenital Intrinsic Factor Deficiency	Hereditary Intrinsic Factor Deficiency Intrinsic Factor Deficiency Congenital Pernicious Anemia Gastric Intrinsic Factor Deficiency Hereditary Juvenile Megaloblastic Anemia Due To Intrinsic Factor Deficiency Ifd Intrinsic Factor Deficiency, Congenital, Susceptibility To Congenital Deficiency Of Intrinsic Factor Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Pernicious Anemia	Anemia, Pernicious Anemia Pernicious Pernicious Anaemia Addison'S Anaemia Biermer'S Anaemia Biermer'S Anemia Acquired Pernicious Anemia Addison-Biermer Anemia Addisonian Anemia Biermer Anemia Biermer'S Disease Juvenile Onset Pernicious Anemia Biermer Disease Biermer-Addison Disease
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Transcobalamin Ii Deficiency	TCN2 DEFICIENCY Tc Ii Deficiency Transcobalamin Deficiency Tc Deficiency Inherited Deficiency Of Transcobalamin
Diphyllobothriasis	Diphyllobothrium Infection Fish Tapeworm Bothriocephalosis Infection By Bothriocephalus Fish Tapeworm Infection Dibothriocephalus Anaemia Dibothriocephaliasis Broad Tapeworm Infection Bothriocephaliasis Dibothriocephalus Intestinal Diphyllobothriasis Diphyllobothrium Infestation Dibothriocephalus Infestation Bothriocephalus Infestation Adult Diphyllobothrium Infection Tapeworm Anaemia Infection By Diphyllobothrium Larvae
Ludwig'S Angina	Cellulitis Of Floor Of Mouth Ludwig Angina
Autoimmune Gastritis
Vitamin Metabolic Disorder
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Tropical Sprue	Tropical Steatorrhea Tropical Enteropathy Sprue, Tropical Sprue - Tropical Idiopathic Tropical Malabsorption Syndrome Tropical Steatorrhoea Tropical Diarrhoea Ts - [Tropical Sprue] Psilosis Sprue Nos
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Copper Deficiency Myelopathy	Swayback Human Swayback
Blind Loop Syndrome	Bacterial Overgrowth Syndrome
Pancytopenia
Necrotizing Fasciitis	Fasciitis, Necrotizing
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01999	CBLIF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CBLIF	VGNC	VGNC:60423
Bos taurus	CBLIF	VGNC	VGNC:29354
Rattus norvegicus	CBLIF	RGD	RGD:62084
Mus musculus	CBLIF	MGD	MGI:1202394
Macaca mulatta	CBLIF	VGNC	VGNC:107435
Canis familiaris	CBLIF	VGNC	VGNC:41212
Others	CBLIF	NCBI