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] See more...

Aliases for CBLIF Gene

Aliases for CBLIF Gene

  • Cobalamin Binding Intrinsic Factor 2 3 4 5
  • IFMH 2 3 4
  • INF 2 3 4
  • IF 2 3 4
  • Gastric Intrinsic Factor (Vitamin B Synthesis) 2 3
  • Gastric Intrinsic Factor 2 4
  • Intrinsic Factor 3 4
  • TCN3 2 3
  • GIF 3 4
  • CBLIF 5

External Ids for CBLIF Gene

Previous HGNC Symbols for CBLIF Gene

  • GIF

Summaries for CBLIF Gene

Entrez Gene Summary for CBLIF Gene

  • 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]

GeneCards Summary for CBLIF Gene

CBLIF (Cobalamin Binding Intrinsic Factor) is a Protein Coding gene. Diseases associated with CBLIF include Intrinsic Factor Deficiency and Congenital Intrinsic Factor Deficiency. Among its related pathways are Gastric acid production and Metabolism of water-soluble vitamins and cofactors. An important paralog of this gene is TCN1.

UniProtKB/Swiss-Prot Summary for CBLIF Gene

  • Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis.

Gene Wiki entry for CBLIF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBLIF Gene

Genomics for CBLIF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CBLIF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J059849 Enhancer 0.5 Ensembl 250.7 -1.7 -1700 1.6 FOXK2 ATF4 CEBPB ATF3 PKNOX1 ZFHX2 CBLIF STX3 lnc-TCN1-1 TCN1
GH11J059845 Promoter 0.3 EPDnew 250.7 0.0 -18 0.1 CBLIF lnc-TCN1-1 TCN1
GH11J059846 Enhancer 0.2 ENCODE 250.7 -0.2 -182 0.2 CBLIF lnc-TCN1-1 TCN1
GH11J059891 Enhancer 0.9 Ensembl ENCODE 10.7 -46.6 -46575 1 IKZF1 ZNF592 POLR2A NONO YY1 ZNF316 NFE2 PRDM10 ZNF318 EHMT2 TCN1 CBLIF MS4A2 piR-38351-077 SRD5A3P1 NONHSAG008417.2 OOSP3 OOSP4A
GH11J059918 Enhancer 0.8 Ensembl ENCODE 11.4 -73.5 -73534 1 ZNF654 CTCF REST CEBPB DEK RAD21 RFX5 SMC3 THRAP3 ZNF384 lnc-OOSP2-3 TCN1 CBLIF OOSP2 MS4A2 SRD5A3P1 OOSP3 OOSP4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBLIF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBLIF

Genomic Locations for CBLIF Gene

Latest Assembly
chr11:59,829,268-59,845,501
(GRCh38/hg38)
Size:
16,234 bases
Orientation:
Minus strand

Previous Assembly
chr11:59,596,746-59,612,972
(GRCh37/hg19 by Entrez Gene)
Size:
16,227 bases
Orientation:
Minus strand

chr11:59,596,741-59,612,974
(GRCh37/hg19 by Ensembl)
Size:
16,234 bases
Orientation:
Minus strand

Genomic View for CBLIF Gene

Genes around CBLIF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBLIF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBLIF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBLIF Gene

Proteins for CBLIF Gene

  • Protein details for CBLIF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27352-IF_HUMAN
    Recommended name:
    Cobalamin binding intrinsic factor
    Protein Accession:
    P27352
    Secondary Accessions:
    • B2RAN8
    • B4DVZ1

    Protein attributes for CBLIF Gene

    Size:
    417 amino acids
    Molecular mass:
    45416 Da
    Quaternary structure:
    • Interacts with CUBN (via CUB domains).

    Three dimensional structures from OCA and Proteopedia for CBLIF Gene

    Alternative splice isoforms for CBLIF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBLIF Gene

Post-translational modifications for CBLIF Gene

  • Glycosylation at Asn311, Asn330, Asn334, and Asn413
  • Modification sites at PhosphoSitePlus

Other Protein References for CBLIF Gene

No data available for DME Specific Peptides for CBLIF Gene

Domains & Families for CBLIF Gene

Gene Families for CBLIF Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for CBLIF Gene

InterPro:
Blocks:
  • Eukaryotic cobalamin-binding protein

Suggested Antigen Peptide Sequences for CBLIF Gene

GenScript: Design optimal peptide antigens:
  • Intrinsic factor (IF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27352

UniProtKB/Swiss-Prot:

IF_HUMAN :
  • Belongs to the eukaryotic cobalamin transport proteins family.
Family:
  • Belongs to the eukaryotic cobalamin transport proteins family.
genes like me logo Genes that share domains with CBLIF: view

Function for CBLIF Gene

Molecular function for CBLIF Gene

UniProtKB/Swiss-Prot Function:
Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis.

Phenotypes From GWAS Catalog for CBLIF Gene

Gene Ontology (GO) - Molecular Function for CBLIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20237569
GO:0031419 cobalamin binding IBA,IDA 14695536
genes like me logo Genes that share ontologies with CBLIF: view
genes like me logo Genes that share phenotypes with CBLIF: view

Human Phenotype Ontology for CBLIF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CBLIF Gene

MGI Knock Outs for CBLIF:
  • Cblif Cblif<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBLIF

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CBLIF Gene

Localization for CBLIF Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBLIF Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBLIF gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
lysosome 4
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CBLIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IDA 14695536
GO:0005768 endosome TAS --
GO:0005902 microvillus IDA 8886952
GO:0016324 apical plasma membrane IDA 8886952
genes like me logo Genes that share ontologies with CBLIF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CBLIF Gene

Pathways & Interactions for CBLIF Gene

genes like me logo Genes that share pathways with CBLIF: view

Gene Ontology (GO) - Biological Process for CBLIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006824 cobalt ion transport IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0015889 cobalamin transport IMP 15738392
genes like me logo Genes that share ontologies with CBLIF: view

No data available for SIGNOR curated interactions for CBLIF Gene

Drugs & Compounds for CBLIF Gene

(4) Drugs for CBLIF Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyanocobalamin Approved Nutra Transporter, substrate 465
Cobalt Approved, Experimental Pharma 212
Cobalamin Experimental Pharma 465
genes like me logo Genes that share compounds with CBLIF: view

Transcripts for CBLIF Gene

mRNA/cDNA for CBLIF Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBLIF

Alternative Splicing Database (ASD) splice patterns (SP) for CBLIF Gene

No ASD Table

Relevant External Links for CBLIF Gene

GeneLoc Exon Structure for
CBLIF

Expression for CBLIF Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CBLIF

SOURCE GeneReport for Unigene cluster for CBLIF Gene:

Hs.110014

mRNA Expression by UniProt/SwissProt for CBLIF Gene:

P27352-IF_HUMAN
Tissue specificity: Gastric mucosa.

Evidence on tissue expression from TISSUES for CBLIF Gene

  • Stomach(4.9)
  • Intestine(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CBLIF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Limb:
  • femur
  • lower limb
  • thigh
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CBLIF Gene

Orthologs for CBLIF Gene

This gene was present in the common ancestor of chordates.

Orthologs for CBLIF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GIF 29 30
  • 99.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gif 29 30
  • 83.29 (n)
OneToOne
Cblif 16
Cow
(Bos Taurus)
Mammalia GIF 29 30
  • 82.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gif 29
  • 82.49 (n)
Dog
(Canis familiaris)
Mammalia GIF 29 30
  • 79.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GIF 30
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GIF 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GIF 29 30
  • 49.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GIF 30
  • 39 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gif 29
  • 50.59 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 30 (a)
OneToMany
Species where no ortholog for CBLIF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CBLIF Gene

ENSEMBL:
Gene Tree for CBLIF (if available)
TreeFam:
Gene Tree for CBLIF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CBLIF: view image
Alliance of Genome Resources:
Additional Orthologs for CBLIF

Paralogs for CBLIF Gene

Paralogs for CBLIF Gene

genes like me logo Genes that share paralogs with CBLIF: view

Variants for CBLIF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBLIF Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1005545 Uncertain Significance: Intrinsic factor deficiency 59,835,817(-) G/C
NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg)
MISSENSE
1008760 Uncertain Significance: Intrinsic factor deficiency 59,831,680(-) T/A
NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val)
MISSENSE
1038547 Uncertain Significance: Intrinsic factor deficiency 59,842,508(-) G/T
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu)
MISSENSE
1040504 Uncertain Significance: Intrinsic factor deficiency 59,837,291(-) T/A
NM_005142.3(CBLIF):c.754A>T (p.Met252Leu)
MISSENSE
877195 Uncertain Significance: Intrinsic factor deficiency 59,845,428(-) A/G
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CBLIF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for CBLIF Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CBLIF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBLIF
Leiden Open Variation Database (LOVD)
CBLIF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CBLIF Gene

Disorders for CBLIF Gene

MalaCards: The human disease database

(15) MalaCards diseases for CBLIF Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
intrinsic factor deficiency
  • ifd
congenital intrinsic factor deficiency
  • hereditary intrinsic factor deficiency
megaloblastic anemia
  • grasbeck-imerslund syndrome
pernicious anemia
  • addison's anaemia
vitamin b12 deficiency
  • cobalamin deficiency
- elite association - COSMIC cancer census association via MalaCards
Search CBLIF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IF_HUMAN
  • Hereditary intrinsic factor deficiency (IFD) [MIM:261000]: Autosomal recessive disorder characterized by megaloblastic anemia. {ECO:0000269 PubMed:15738392}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CBLIF

genes like me logo Genes that share disorders with CBLIF: view

No data available for Genatlas for CBLIF Gene

Publications for CBLIF Gene

  1. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (PMID: 15738392) Tanner SM … de la Chapelle A (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 72
  2. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. (PMID: 14695536) Gordon MM … Alpers DH (Human mutation 2004) 3 4 22 72
  3. Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. (PMID: 20237569) Andersen CB … Andersen GR (Nature 2010) 3 4 22
  4. Crystal structure of human intrinsic factor: cobalamin complex at 2.6-A resolution. (PMID: 17954916) Mathews FS … Sukumar N (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22
  5. Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11. (PMID: 2071148) Hewitt JE … Alpers DH (Genomics 1991) 2 3 4

Products for CBLIF Gene

Sources for CBLIF Gene