1. Gene
  2. CBLIF - cobalamin binding intrinsic factor Gene

CBLIF - cobalamin binding intrinsic factor Gene

Homo sapiens

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

Gene ID: 2694 | Gene type: protein coding

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

CBLIF Protein Structure

Cobalamin_bind

Cobalamin_bind: Eukaryotic cobalamin-binding protein (7 - 313)

  • 0
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  • 300
  • 417 a.a.
Protein Preferred Names Protein Names

cobalamin binding intrinsic factor

gastric intrinsic factor (vitamin B synthesis)

Recombinant CBLIF Proteins

Cat. No. Product Name Accession Purity
HY-P73859 Intrinsic Factor/GIF Protein, Human (HEK293, His) P27352-1 (S19-Y417) ≥95%
HY-P700085AF Animal-Free Intrinsic Factor/GIF Protein, Human (His) P27352 (M1-Y417) ≥95%

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

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