This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008] See more...

Aliases for TCN1 Gene

Aliases for TCN1 Gene

  • Transcobalamin 1 2 3 5
  • Haptocorrin 2 3 4
  • Transcobalamin I (Vitamin B12 Binding Protein, R Binder Family) 2 3
  • Transcobalamin-1 3 4
  • Transcobalamin I 2 4
  • Haptocorin 2 3

External Ids for TCN1 Gene

Previous GeneCards Identifiers for TCN1 Gene

  • GC11M062014
  • GC11M061133
  • GC11M059395
  • GC11M059376
  • GC11M059620
  • GC11M055967

Summaries for TCN1 Gene

Entrez Gene Summary for TCN1 Gene

  • This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for TCN1 Gene

TCN1 (Transcobalamin 1) is a Protein Coding gene. Diseases associated with TCN1 include Transcobalamin I Deficiency and Vitamin B12 Deficiency. Among its related pathways are Innate Immune System and Selenium Micronutrient Network. Gene Ontology (GO) annotations related to this gene include cobalamin binding. An important paralog of this gene is CBLIF.

UniProtKB/Swiss-Prot Summary for TCN1 Gene

  • Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach.

Gene Wiki entry for TCN1 Gene

Additional gene information for TCN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCN1 Gene

Genomics for TCN1 Gene

GeneHancer (GH) Regulatory Elements for TCN1 Gene

Promoters and enhancers for TCN1 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
GH11J059867 Promoter 0.8 Ensembl 750.6 -0.3 -333 0.6 MYC MAX CEBPG TRIM24 PKNOX1 CEBPB HDAC1 SOX6 GABPA CTCF TCN1 OOSP3
GH11J059866 Promoter 0.8 EPDnew 750.6 +0.1 61 0.1 MYC MAX CEBPG TRIM24 PKNOX1 CEBPB HDAC1 SOX6 GABPA CTCF TCN1 lnc-TCN1-1
GH11J059864 Enhancer 0.5 ENCODE 750.6 +1.4 1416 1.3 FOSL1 JUN KDM1A MAFF JUND TCN1 lnc-TCN1-1
GH11J060192 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.4 -328.7 -328733 5.4 ZNF24 SP1 CTCF SMARCE1 CC2D1A ETV6 L3MBTL2 RAD21 DACH1 TEAD4 ENSG00000255139 TCN1 TMEM132A PATL1 MS4A6A MS4A6E MS4A2 piR-56133-042 MS4A4A piR-54764-089
GH11J059891 Enhancer 0.9 Ensembl ENCODE 11.9 -25.5 -25508 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 TCN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCN1 gene promoter:
  • Brachyury
  • CUTL1
  • FOXD3
  • NF-kappaB
  • NF-kappaB1
  • POU3F2
  • TGIF

Genomic Locations for TCN1 Gene

Genomic Locations for TCN1 Gene
chr11:59,852,800-59,866,568
(GRCh38/hg38)
Size:
13,769 bases
Orientation:
Minus strand
chr11:59,620,273-59,634,048
(GRCh37/hg19)
Size:
13,776 bases
Orientation:
Minus strand

Genomic View for TCN1 Gene

Genes around TCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCN1 Gene

Proteins for TCN1 Gene

  • Protein details for TCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20061-TCO1_HUMAN
    Recommended name:
    Transcobalamin-1
    Protein Accession:
    P20061
    Secondary Accessions:
    • A8KAC5
    • Q8WV77

    Protein attributes for TCN1 Gene

    Size:
    433 amino acids
    Molecular mass:
    48207 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TCN1 Gene

neXtProt entry for TCN1 Gene

Post-translational modifications for TCN1 Gene

  • Contains about 30% carbohydrates.
  • Glycosylation at Asn160, Asn216, Asn316, Asn337, Asn343, Asn349, Asn354, and Asn369
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for TCN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCN1 Gene

Domains & Families for TCN1 Gene

Gene Families for TCN1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for TCN1 Gene

Suggested Antigen Peptide Sequences for TCN1 Gene

GenScript: Design optimal peptide antigens:
  • Transcobalamin I (TCO1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20061

UniProtKB/Swiss-Prot:

TCO1_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 TCN1: view

Function for TCN1 Gene

Molecular function for TCN1 Gene

UniProtKB/Swiss-Prot Function:
Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach.
GENATLAS Biochemistry:
transcobalamin 1 (vitamin B12 binding protein,R binder family),in secondary granules of mature neutrophils

Phenotypes From GWAS Catalog for TCN1 Gene

Gene Ontology (GO) - Molecular Function for TCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031419 cobalamin binding IEA --
genes like me logo Genes that share ontologies with TCN1: view
genes like me logo Genes that share phenotypes with TCN1: view

Animal Model Products

CRISPR Products

miRNA for TCN1 Gene

miRTarBase miRNAs that target TCN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TCN1 Gene

Localization for TCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCN1 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 TCN1 gene
Compartment Confidence
extracellular 5
plasma membrane 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA 16502470
GO:0035580 specific granule lumen TAS --
GO:1904724 tertiary granule lumen TAS --
genes like me logo Genes that share ontologies with TCN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TCN1 Gene

Pathways & Interactions for TCN1 Gene

genes like me logo Genes that share pathways with TCN1: view

Pathways by source for TCN1 Gene

Gene Ontology (GO) - Biological Process for TCN1 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 TAS,IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with TCN1: view

No data available for SIGNOR curated interactions for TCN1 Gene

Drugs & Compounds for TCN1 Gene

(8) Drugs for TCN1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other 401
Cyanocobalamin Approved Nutra Transporter, substrate 402
Cobalt Approved, Experimental Pharma 197
Cobalamin Experimental Pharma 402

(3) Additional Compounds for TCN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TCN1: view

Transcripts for TCN1 Gene

mRNA/cDNA for TCN1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1:
SP2: -
SP3: - -

Relevant External Links for TCN1 Gene

GeneLoc Exon Structure for
TCN1
ECgene alternative splicing isoforms for
TCN1

Expression for TCN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TCN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TCN1 Gene

This gene is overexpressed in Minor Salivary Gland (x35.5), Whole Blood (x7.2), and Stomach (x4.1).

Protein differential expression in normal tissues from HIPED for TCN1 Gene

This gene is overexpressed in Saliva (14.1), Neutrophil (12.7), Milk (10.5), Salivary gland (10.4), Lavage (8.0), and Blymphocyte (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TCN1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TCN1 Gene:

TCN1

SOURCE GeneReport for Unigene cluster for TCN1 Gene:

Hs.2012

mRNA Expression by UniProt/SwissProt for TCN1 Gene:

P20061-TCO1_HUMAN
Tissue specificity: Produced by the salivary glands of the oral cavity, in response to ingestion of food. Major constituent of secondary granules in neutrophils.

Evidence on tissue expression from TISSUES for TCN1 Gene

  • Bone marrow(4.4)
  • Saliva(4.3)
  • Stomach(2.6)
  • Intestine(2.2)
  • Gall bladder(2.1)
genes like me logo Genes that share expression patterns with TCN1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCN1 Gene

Orthologs for TCN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCN1 33 32
  • 98.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TCN1 33 32
  • 77.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TCN1 33 32
  • 73.38 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCN1 33
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCN1 33
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 28 (a)
OneToMany
Species where no ortholog for TCN1 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)
  • chicken (Gallus gallus)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TCN1 Gene

ENSEMBL:
Gene Tree for TCN1 (if available)
TreeFam:
Gene Tree for TCN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCN1: view image

Paralogs for TCN1 Gene

Paralogs for TCN1 Gene

(1) SIMAP similar genes for TCN1 Gene using alignment to 1 proteins:

  • TCO1_HUMAN
genes like me logo Genes that share paralogs with TCN1: view

Variants for TCN1 Gene

Sequence variations from dbSNP and Humsavar for TCN1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1209702636 pathogenic, Transcobalamin I deficiency 59,866,445(-) A/ coding_sequence_variant, frameshift
rs1242630410 uncertain-significance, Transcobalamin I deficiency 59,859,118(-) C/T coding_sequence_variant, missense_variant
rs34324219 benign, not provided, - 59,855,905(-) C/A coding_sequence_variant, missense_variant
rs34528912 benign, Transcobalamin I deficiency, not provided, - 59,864,062(-) C/T coding_sequence_variant, missense_variant
rs138846758 likely-benign, not provided 59,854,819(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for TCN1 Gene

Variant ID Type Subtype PubMed ID
esv2659739 CNV deletion 23128226
esv3626542 CNV loss 21293372
esv3626543 CNV loss 21293372
nsv442233 CNV loss 18776908
nsv825935 CNV loss 20364138

Variation tolerance for TCN1 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCN1 Gene

Human Gene Mutation Database (HGMD)
TCN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCN1 Gene

Disorders for TCN1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for TCN1 Gene - From: HGMD, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
transcobalamin i deficiency
  • tcn1 deficiency
vitamin b12 deficiency
  • cobalamin deficiency
vitamin metabolic disorder
transcobalamin ii deficiency
  • tc ii deficiency
pernicious anemia
  • addison's anaemia
- elite association - COSMIC cancer census association via MalaCards
Search TCN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TCN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TCN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCN1 Gene

Publications for TCN1 Gene

  1. Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate. (PMID: 16470748) Martinelli M … Carinci F (Human mutation 2006) 3 23 43 56
  2. Structural basis for universal corrinoid recognition by the cobalamin transport protein haptocorrin. (PMID: 23846701) Furger E … Prota AE (The Journal of biological chemistry 2013) 3 4 56
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  4. Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty. (PMID: 20082058) Matteini AM … Fallin MD (The journal of nutrition, health & aging 2010) 3 23 56
  5. Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer. (PMID: 20852008) Collin SM … Martin RM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 43 56

Products for TCN1 Gene

Sources for TCN1 Gene