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

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 Vitamin digestion and absorption and Selenium Micronutrient Network. 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

Additional gene information 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 for CBLIF Gene

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 0.4 Ensembl 750.6 -1.7 -1664 1.6 PKNOX1 FOXK2 ZFHX2 CBLIF STX3 lnc-TCN1-1
GH11J059845 Promoter 0.3 EPDnew 750.6 +0.0 18 0.1 CBLIF HSALNG0084431
GH11J059846 Enhancer 0.2 ENCODE 750.6 -0.1 -146 0.2 CBLIF lnc-TCN1-1
GH11J059919 Enhancer 0.8 Ensembl ENCODE 11.4 -73.5 -73464 0.8 CTCF CC2D1A RAD21 ZNF384 ARID2 REST CEBPB JUND DEK RFX5 lnc-OOSP2-3 TCN1 CBLIF OOSP2 MS4A2 SRD5A3P1
GH11J059891 Enhancer 0.9 Ensembl ENCODE 10.7 -46.5 -46539 1 SMARCE1 ZNF148 BACH1 SMARCA4 IKZF1 ATF1 PKNOX1 HDAC1 ZNF316 MTA2 TCN1 CBLIF MS4A2 NONHSAG008417.2 piR-38351-077 OOSP3
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for CBLIF Gene

Genomic Locations for CBLIF Gene
chr11:59,829,268-59,845,537
(GRCh38/hg38)
Size:
16,270 bases
Orientation:
Minus strand
chr11:59,596,741-59,612,974
(GRCh37/hg19)
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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Invitrogen Antibodies for CBLIF (AFLGC-GIF)

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

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:0031419 cobalamin binding 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>

Animal Model Products

CRISPR Products

Clone Products

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
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 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 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 402
Cobalt Approved, Experimental Pharma 197
Cobalamin Experimental Pharma 402
genes like me logo Genes that share compounds with CBLIF: view

Transcripts for CBLIF Gene

mRNA/cDNA for CBLIF Gene

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for CBLIF Gene

GeneLoc Exon Structure for
CBLIF
ECgene alternative splicing isoforms for
CBLIF

Expression for CBLIF Gene

NURSA nuclear receptor signaling pathways regulating expression of CBLIF Gene:

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(4.5)
  • Thyroid gland(2)

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

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 33 32
  • 99.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gif 33 32
  • 83.29 (n)
OneToOne
Cblif 17
cow
(Bos Taurus)
Mammalia GIF 33 32
  • 82.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gif 32
  • 82.49 (n)
dog
(Canis familiaris)
Mammalia GIF 33 32
  • 79.14 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GIF 33
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GIF 33
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves GIF 33 32
  • 49.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GIF 33
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gif 32
  • 50.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 30 (a)
OneToMany
Species where no ortholog for CBLIF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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 from dbSNP and Humsavar for CBLIF Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs115964827 uncertain-significance, Intrinsic factor deficiency 59,843,888(-) C/T coding_sequence_variant, missense_variant
rs11825834 likely-benign, not provided, - 59,843,942(-) C/T coding_sequence_variant, missense_variant
rs121434322 uncertain-significance, Intrinsic factor deficiency, Hereditary intrinsic factor deficiency (IFD) [MIM:261000] 59,843,998(-) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs139444835 uncertain-significance, Intrinsic factor deficiency 59,843,917(-) T/C coding_sequence_variant, missense_variant
rs144916324 uncertain-significance, Intrinsic factor deficiency, not provided 59,843,981(-) A/T coding_sequence_variant, missense_variant

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

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

(21) MalaCards diseases for CBLIF Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intrinsic factor deficiency
  • ifd
congenital intrinsic factor deficiency
  • intrinsic factor deficiency
pernicious anemia
  • addison's anaemia
megaloblastic anemia
  • imerslund-grasbeck syndrome
megaloblastic anemia 1
  • mga1
- 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 mutations 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. Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. (PMID: 20237569) Andersen CB … Andersen GR (Nature 2010) 3 4 23 56
  2. 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 23 56
  3. 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 23 56
  4. 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 23 56
  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 56

Products for CBLIF Gene

Sources for CBLIF Gene