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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TCN1
transcobalamin 1
Chromosome 11 Β· 11q12.1
NCBI Gene: 6947Ensembl: ENSG00000134827.8HGNC: HGNC:11652UniProt: P20061
62PubMed Papers
20Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmolecular sequestering activitycargo receptor ligand activityGO:0005615vitamin B deficiencyvitamin B12 deficiencydeficiency anemiamegaloblastic anemia
✦AI Summary

TCN1 (transcobalamin 1) is a vitamin B12-binding protein with femtomolar affinity that protects cobalamin in the stomach's acidic environment 1. The gene resides on chromosome 11 and contains nine exons within 12 kb of genomic DNA, with structural similarity to intrinsic factor 1. TCN1 is primarily expressed in neutrophil secondary granules and serves as a marker for late-stage myeloid differentiation 1. Beyond its canonical role in vitamin B12 transport, TCN1 has emerged as a significant pathophysiological factor in multiple diseases. In cancer contexts, TCN1 promotes cell growth and malignancy: in colorectal cancer, it enhances proliferation and invasion via the ITGB4 pathway 2, while in lung adenocarcinoma, high TCN1 expression correlates independently with poor overall survival 3. TCN1 serves as a prognostic biomarker in cholangiocarcinoma 4. TCN1 also functions as an inflammatory regulator. It is upregulated in asthma, correlating with inflammatory markers (FeNO, IgE) and inversely with lung function 5. In psoriasis, TCN1 activates NF-ΞΊB signaling and promotes keratinocyte cell cycle progression 6. Early neutrophil TCN1 upregulation predicts prolonged organ dysfunction in severe influenza 7, and TCN1 is identified as a diagnostic biomarker in ulcerative colitis 8. These findings suggest TCN1 functions beyond B12 metabolism, operating as both a disease biomarker and potential therapeutic target in inflammatory and malignant conditions.

Sources cited
1
TCN1 is a vitamin B12 binding protein in neutrophil secondary granules, expression restricted to late myeloid development; gene structure contains nine exons in 12 kb genomic DNA on chromosome 11
PMID: 1463480
2
TCN1 knockdown inhibits colorectal cancer proliferation, invasion, and metastasis by regulating ITGB4 pathway; TCN1 overexpression promotes cancer malignancy
PMID: 35686504
3
TCN1 is highly expressed in lung adenocarcinoma tissues; high expression independently correlates with poor overall survival and can distinguish LUAD from normal tissue
PMID: 35287670
4
TCN1 identified as potential cholangiocarcinoma prognostic biomarker promoting cell growth by enhancing vitamin B12 metabolism
PMID: 35716043
5
TCN1 expression increased in asthma sputum, correlates with inflammatory markers (FeNO, IgE, EOS%) and inversely with lung function parameters
PMID: 37586352
6
TCN1 upregulated in psoriatic lesions, activates NF-ΞΊB signaling pathway promoting inflammatory cytokine synthesis and cell cycle progression in keratinocytes
PMID: 40318273
7
Early upregulation of TCN1 among neutrophil degranulation genes predicts prolonged organ dysfunction or death in severe influenza infection
PMID: 37533854
8
TCN1 identified as signature gene biomarker for ulcerative colitis diagnosis and therapy, involved in inflammatory response pathways
PMID: 38070204
Disease Associationsβ“˜20
vitamin B deficiencyOpen Targets
0.54Moderate
vitamin B12 deficiencyOpen Targets
0.53Moderate
deficiency anemiaOpen Targets
0.53Moderate
megaloblastic anemiaOpen Targets
0.53Moderate
transcobalamin I deficiencyOpen Targets
0.52Moderate
vitamin deficiency disorderOpen Targets
0.52Moderate
pernicious anemiaOpen Targets
0.48Moderate
nutritional deficiency diseaseOpen Targets
0.36Weak
celiac diseaseOpen Targets
0.27Weak
uveitisOpen Targets
0.26Weak
neuroinflammatory disorderOpen Targets
0.20Weak
neoplasmOpen Targets
0.10Weak
psoriasisOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
rectum cancerOpen Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
Crohn's diseaseOpen Targets
0.05Suggestive
Pathogenic Variants7
NM_001062.4(TCN1):c.217C>T (p.Gln73Ter)Pathogenic
Transcobalamin I deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 73
NM_001062.4(TCN1):c.229C>T (p.Gln77Ter)Pathogenic
Transcobalamin I deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 77
NM_001062.4(TCN1):c.69C>A (p.Cys23Ter)Pathogenic
Transcobalamin I deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 23
NM_001062.4(TCN1):c.455del (p.Leu152fs)Pathogenic
Transcobalamin I deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 152
NM_001062.4(TCN1):c.524_530del (p.Lys175fs)Pathogenic
Transcobalamin I deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 175
NM_001062.4(TCN1):c.26del (p.Leu9fs)Pathogenic
Transcobalamin I deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 9
NM_001062.4(TCN1):c.82del (p.Glu27_Val28insTer)Pathogenic
Transcobalamin I deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 27
View on ClinVar β†—
Related Genes
TCN2Shared pathway100%CBLProtein interaction86%LCN2Protein interaction86%LTFProtein interaction86%MMP8Protein interaction86%CBLIFProtein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
1%
Liver
0%
Ovary
0%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
TCN1TCN2CBLLCN2LTFMMP8CBLIF
PROTEIN STRUCTURE
Preparing viewer…
PDB4KKI Β· 2.35 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.97 [0.77–1.23]
RankingsWhere TCN1 stands among ~20K protein-coding genes
  • #7,516of 20,598
    Most Researched62
  • #3,210of 5,498
    Most Pathogenic Variants7
  • #12,925of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedTCN1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Proteogenomic characterization of cholangiocarcinoma.
PMID: 35716043
Hepatology Β· 2023
1.00
2
Biomarkers prediction and immune landscape in ulcerative colitis: Findings based on bioinformatics and machine learning.
PMID: 38070204
Comput Biol Med Β· 2024
0.90
3
Genomic structure and mapping of the chromosomal gene for transcobalamin I (TCN1): comparison to human intrinsic factor.
PMID: 1463480
Genomics Β· 1992
0.80
4
TCN1 Expression Is Increased in Asthma.
PMID: 37586352
Int Arch Allergy Immunol Β· 2023
0.70
5
TCN1 as an inflammatory regulator in psoriasis: Activation of the NF-ΞΊB pathway and potential therapeutic target.
PMID: 40318273
Int Immunopharmacol Β· 2025
0.60