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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 I 2 4
  • Haptocorin 2 3
  • Protein R 3 4

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 vitamin metabolic disorder and transcobalamin ii deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include cobalamin binding. An important paralog of this gene is GIF.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCN1 Gene

Genomics for TCN1 Gene

Regulatory Elements for TCN1 Gene

Promoters for TCN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TCN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TCN1 Gene

Chromosome:
11
Start:
59,852,800 bp from pter
End:
59,866,575 bp from pter
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

Proteomics data for TCN1 Gene at MOPED

Post-translational modifications for TCN1 Gene

  • Contains about 30% carbohydrates.
  • Glycosylation at Asn 160, Asn 216, Asn 316, Asn 337, Asn 343, Asn 349, Asn 354, and Asn 369
  • Modification sites at PhosphoSitePlus

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

Protein Domains for TCN1 Gene

Suggested Antigen Peptide Sequences for TCN1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for TCN1 Gene

Function for TCN1 Gene

Molecular function for TCN1 Gene

GENATLAS Biochemistry:
transcobalamin 1 (vitamin B12 binding protein,R binder family),in secondary granules of mature neutrophils
UniProtKB/Swiss-Prot Function:
Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach.
genes like me logo Genes that share phenotypes with TCN1: view

Animal Model Products

miRNA for TCN1 Gene

miRTarBase miRNAs that target TCN1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TCN1 Gene COMPARTMENTS Subcellular localization image for TCN1 gene
Compartment Confidence
extracellular 5
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for TCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with TCN1: view

Pathways & Interactions for TCN1 Gene

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

Interacting Proteins for TCN1 Gene

Gene Ontology (GO) - Biological Process for TCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006824 cobalt ion transport IEA --
GO:0044281 small molecule metabolic process 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 227
Cyanocobalamin Approved Nutra Transporter, substrate 227
Cobalt Pharma 155
Cobalamin Nutra 227

(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

Unigene Clusters for TCN1 Gene

Transcobalamin I (vitamin B12 binding protein, R binder family):
Representative Sequences:

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 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, PaxDb, and MOPED for TCN1 Gene



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.
genes like me logo Genes that share expression patterns with TCN1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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 35
  • 98.48 (n)
  • 98.12 (a)
TCN1 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TCN1 36
  • 62 (a)
OneToOne
TCN1 35
  • 73.38 (n)
  • 63 (a)
dog
(Canis familiaris)
Mammalia TCN1 35
  • 77.06 (n)
  • 63.28 (a)
TCN1 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCN1 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCN1 36
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for TCN1:
  • 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)

Paralogs for TCN1 Gene

Paralogs for TCN1 Gene

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

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 Sequence Context AA Info Type
rs34528912 - 59,864,062(+) TTAGG(C/T)GGATG reference, missense
rs34324219 - 59,855,905(+) AATAT(A/C)CAAGA reference, missense
rs519221 -- 59,857,063(+) CCACA(A/T)GCATT intron-variant
rs526934 -- 59,866,020(+) TCAGG(A/G)AAAAA intron-variant
rs1042613 -- 59,855,960(-) TTCAG(C/T)AATCC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv825935 CNV Loss 20364138
nsv442233 CNV CNV 18776908
esv2659739 CNV Deletion 23128226

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)

Relevant External Links for TCN1 Gene

HapMap Linkage Disequilibrium report
TCN1
Human Gene Mutation Database (HGMD)
TCN1

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

Disorders for TCN1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TCN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
vitamin metabolic disorder
transcobalamin ii deficiency
  • tcn2 deficiency
hepatocellular fibrolamellar carcinoma
  • fibrolamellar hepatocellular carcinoma
megaloblastic anemia
  • grasbeck-imerslund syndrome
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

Relevant External Links for TCN1

Genetic Association Database (GAD)
TCN1
Human Genome Epidemiology (HuGE) Navigator
TCN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCN1
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. (Hum. Mutat. 2006) 3 23 48 67
  2. Haptocorrin (transcobalamin I) and cobalamin deficiencies. (PMID: 17259255) Carmel R. (Clin. Chem. 2007) 23 25 26
  3. Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan. (PMID: 16047053) Al-Alami J.R. … El-Shanti H. (Saudi Med J 2005) 23 25 26
  4. Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty. (PMID: 20082058) Matteini A.M. … Fallin M.D. (J Nutr Health Aging 2010) 3 23
  5. Genomic mutations associated with mild and severe deficiencies of transcobalamin I (haptocorrin) that cause mildly and severely low serum cobalamin levels. (PMID: 19686235) Carmel R. … Kelman Z. (Br. J. Haematol. 2009) 3 23

Products for TCN1 Gene

Sources for TCN1 Gene

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