Details for: CBLIF

Gene ID: 2694

Symbol: CBLIF

Ensembl ID: ENSG00000134812

Description: cobalamin binding intrinsic factor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 2.6828
    Cell Significance Index: 36.7900
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 2.5784
    Cell Significance Index: 44.0800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.0276
    Cell Significance Index: 63.0000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.9590
    Cell Significance Index: 30.7200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.5736
    Cell Significance Index: 13.9000
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.4583
    Cell Significance Index: 6.6800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.4263
    Cell Significance Index: 7.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3849
    Cell Significance Index: 17.4500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3352
    Cell Significance Index: 63.7900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1654
    Cell Significance Index: 16.3700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1596
    Cell Significance Index: 3.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1507
    Cell Significance Index: 136.1100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1504
    Cell Significance Index: 9.0300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1293
    Cell Significance Index: 14.0600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1257
    Cell Significance Index: 7.9200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.1187
    Cell Significance Index: 1.5000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0957
    Cell Significance Index: 2.3900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0939
    Cell Significance Index: 15.2700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0895
    Cell Significance Index: 1.9400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0675
    Cell Significance Index: 1.4000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0595
    Cell Significance Index: 4.1200
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.0484
    Cell Significance Index: 0.4300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0396
    Cell Significance Index: 1.1400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0386
    Cell Significance Index: 0.5700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0367
    Cell Significance Index: 7.3600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0366
    Cell Significance Index: 0.9400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0360
    Cell Significance Index: 1.1400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0316
    Cell Significance Index: 6.2800
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.0309
    Cell Significance Index: 0.5000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0294
    Cell Significance Index: 0.3500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0246
    Cell Significance Index: 17.0200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0241
    Cell Significance Index: 0.6000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0222
    Cell Significance Index: 0.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0168
    Cell Significance Index: 6.0100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0134
    Cell Significance Index: 0.4700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0088
    Cell Significance Index: 11.9100
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.0063
    Cell Significance Index: 0.0700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0036
    Cell Significance Index: 5.6100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0000
    Cell Significance Index: 0.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0006
    Cell Significance Index: -1.0600
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0008
    Cell Significance Index: -0.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0009
    Cell Significance Index: -0.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0020
    Cell Significance Index: -0.3400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0034
    Cell Significance Index: -2.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0041
    Cell Significance Index: -2.2900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0042
    Cell Significance Index: -2.3200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0051
    Cell Significance Index: -3.2300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0057
    Cell Significance Index: -2.5800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0061
    Cell Significance Index: -1.7700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0061
    Cell Significance Index: -0.4700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0073
    Cell Significance Index: -0.3000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0078
    Cell Significance Index: -0.2200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0095
    Cell Significance Index: -0.1600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0103
    Cell Significance Index: -1.8500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0110
    Cell Significance Index: -1.6100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0114
    Cell Significance Index: -0.2100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0128
    Cell Significance Index: -0.1600
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0131
    Cell Significance Index: -0.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0136
    Cell Significance Index: -2.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0165
    Cell Significance Index: -0.7700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0170
    Cell Significance Index: -2.3400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0184
    Cell Significance Index: -2.2600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0206
    Cell Significance Index: -0.3100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0212
    Cell Significance Index: -2.4300
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: -0.0231
    Cell Significance Index: -0.1100
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0231
    Cell Significance Index: -0.2000
  • Cell Name: parietal cell (CL0000162)
    Fold Change: -0.0243
    Cell Significance Index: -0.2300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0251
    Cell Significance Index: -1.6900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0261
    Cell Significance Index: -2.7200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0262
    Cell Significance Index: -0.3800
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.0302
    Cell Significance Index: -0.3300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0325
    Cell Significance Index: -0.4100
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0331
    Cell Significance Index: -0.3900
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0334
    Cell Significance Index: -0.5000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0357
    Cell Significance Index: -1.2500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0359
    Cell Significance Index: -0.5300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0362
    Cell Significance Index: -1.6000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0374
    Cell Significance Index: -0.7600
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0383
    Cell Significance Index: -0.2500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0386
    Cell Significance Index: -1.0300
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0387
    Cell Significance Index: -0.5400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0389
    Cell Significance Index: -0.9500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0399
    Cell Significance Index: -1.2700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0408
    Cell Significance Index: -2.5100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0415
    Cell Significance Index: -1.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0422
    Cell Significance Index: -2.3700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0440
    Cell Significance Index: -1.1200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0443
    Cell Significance Index: -2.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0454
    Cell Significance Index: -1.7200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0459
    Cell Significance Index: -0.3100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0471
    Cell Significance Index: -0.6800
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.0490
    Cell Significance Index: -0.3400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0496
    Cell Significance Index: -0.4700
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0517
    Cell Significance Index: -1.0100
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.0547
    Cell Significance Index: -0.4900
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: -0.0593
    Cell Significance Index: -0.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0602
    Cell Significance Index: -2.8300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0613
    Cell Significance Index: -1.5300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0629
    Cell Significance Index: -2.3100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0639
    Cell Significance Index: -1.3800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Function:** The CBLIF protein binds to cobalamin, facilitating its uptake and transport into cells, particularly in the enterocytes of the large intestine. 2. **Cellular Expression:** CBLIF is expressed in various cell types, including retinal ganglion cells, megakaryocytes, and plasma cells, highlighting its broad tissue distribution. 3. **Tissue Specificity:** The gene is specifically expressed in enterocytes, where it plays a crucial role in cobalamin absorption. 4. **Genetic Associations:** Defects in the CBLIF gene have been linked to congenital amniotic fluid accumulation syndrome 1 (MGA1) and other diseases related to cobalamin metabolism. **Pathways and Functions:** 1. **Cobalamin Transport:** CBLIF binds to cobalamin, forming a complex that is then internalized by enterocytes through a receptor-mediated process. 2. **Vitamin B12 Metabolism:** The CBLIF-cobalamin complex is then transported to the liver, where it is metabolized and distributed to various tissues. 3. **Apical Plasma Membrane:** CBLIF is localized to the apical plasma membrane of enterocytes, where it interacts with cobalamin. 4. **Cargo Receptor Ligand Activity:** CBLIF exhibits cargo receptor ligand activity, binding to specific receptors on the surface of enterocytes. **Clinical Significance:** 1. **Cobalamin Deficiency:** Defects in the CBLIF gene can lead to congenital amniotic fluid accumulation syndrome 1 (MGA1) and other diseases related to cobalamin metabolism. 2. **Vitamin B12 Deficiency:** Impaired CBLIF function can result in vitamin B12 deficiency, leading to neurological, hematological, and other systemic complications. 3. **Intrinsic Factor Deficiency:** Intrinsic factor deficiency is a common cause of vitamin B12 deficiency, and CBLIF is the primary protein responsible for this deficiency. 4. **Therapeutic Implications:** Understanding the mechanisms of CBLIF function and its regulation may lead to the development of novel therapeutic strategies for treating cobalamin-related diseases. In conclusion, the CBLIF gene plays a vital role in cobalamin transport and metabolism, and its dysfunction can lead to various clinical disorders. Further research on this gene is essential to elucidate its mechanisms and develop effective therapeutic interventions for cobalamin-related diseases.

Genular Protein ID: 3268332689

Symbol: IF_HUMAN

Name: Intrinsic factor

UniProtKB Accession Codes:

P27352 B2RAN8 B4DVZ1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEBI 5 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 6 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 4 RefSeq 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2071148

Title: Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11.

PubMed ID: 2071148

DOI: 10.1016/0888-7543(91)90329-d

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17954916

Title: Crystal structure of human intrinsic factor: cobalamin complex at 2.6-A resolution.

PubMed ID: 17954916

DOI: 10.1073/pnas.0703228104

PubMed ID: 20237569

Title: Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.

PubMed ID: 20237569

DOI: 10.1038/nature08874

PubMed ID: 14695536

Title: A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

PubMed ID: 14695536

DOI: 10.1002/humu.10297

PubMed ID: 15738392

Title: Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

PubMed ID: 15738392

DOI: 10.1073/pnas.0500517102

Sequence Information:

  • Length: 417
  • Mass: 45416
  • Checksum: F8B376E03A3D0F3C
  • Sequence:
    • MAWFALYLLS LLWATAGTST QTQSSCSVPS AQEPLVNGIQ VLMENSVTSS AYPNPSILIA 
MNLAGAYNLK AQKLLTYQLM SSDNNDLTIG QLGLTIMALT SSCRDPGDKV SILQRQMENW 
APSSPNAEAS AFYGPSLAIL ALCQKNSEAT LPIAVRFAKT LLANSSPFNV DTGAMATLAL 
TCMYNKIPVG SEEGYRSLFG QVLKDIVEKI SMKIKDNGII GDIYSTGLAM QALSVTPEPS 
KKEWNCKKTT DMILNEIKQG KFHNPMSIAQ ILPSLKGKTY LDVPQVTCSP DHEVQPTLPS 
NPGPGPTSAS NITVIYTINN QLRGVELLFN ETINVSVKSG SVLLVVLEEA QRKNPMFKFE 
TTMTSWGLVV SSINNIAENV NHKTYWQFLS GVTPLNEGVA DYIPFNHEHI TANFTQY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.