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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TCN1 Gene

protein-coding   GIFtS: 56
GCID: GC11M059620

transcobalamin I (vitamin B12 binding protein, R binder...

 Explore 35 diseases affiliated with
TCN1 via our new
 Human Malady Compendium 
Biological research products
for TCN1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transcobalamin I (Vitamin B12 Binding Protein, R Binder Family)1 2     Haptocorrin1
TC11 2 3 5     Transcobalamin-11
TCI1 2 3     TC I3
TC-12 3     Transcobalamin I3
Haptocorin1     

External Ids:    HGNC: 116521   Entrez Gene: 69472   Ensembl: ENSG000001348277   OMIM: 1899055   UniProtKB: P200613   

Export aliases for TCN1 gene to outside databases

Previous GC identifers: GC11M062014 GC11M061133 GC11M059871 GC11M059395 GC11M059376 GC11M055967


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TCN1:
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)

UniProtKB/Swiss-Prot: TCO1_HUMAN, P20061
Function: Vitamin B12-binding protein. Transports cobalamin into cells

Gene Wiki entry for TCN1 (Haptocorrin)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCN1 gene promoter:
         Brachyury   FOXD3   CUTL1   NF-kappaB   NF-kappaB1   POU3F2   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TCN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q11-q12   Ensembl cytogenetic band:  11q12.1   HGNC cytogenetic band: 11q11-q12

TCN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCN1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M059620:  view genomic region     (about GC identifiers)

Start:
59,620,273 bp from pter      End:
59,634,048 bp from pter
Size:
13,776 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TCO1_HUMAN, P20061 (See protein sequence)
Recommended Name: Transcobalamin-1 precursor  
Size: 433 amino acids; 48207 Da
Subcellular location: Secreted
1 PDB 3D structure from and Proteopedia for TCN1:
2CKV (3D)    
Secondary accessions: A8KAC5 Q8WV77

Explore the universe of human proteins at neXtProt for TCN1: NX_P20061

Post-translational modifications:

  • Contains about 30% carbohydrates1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20061

  • TCN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001053.2  
    ENSEMBL proteins: 
     ENSP00000257264  

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    Uscn Proteins for TCN1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--


    TCN1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TCN1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002157 Cbl-bd_transpt_euk

    Graphical View of Domain Structure for InterPro Entry P20061

    ProtoNet protein and cluster: P20061

    1 Blocks protein family: IPB002157 Eukaryotic cobalamin-binding protein

    UniProtKB/Swiss-Prot: TCO1_HUMAN, P20061
    Similarity: Belongs to the eukaryotic cobalamin transport proteins family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TCO1_HUMAN, P20061
    Function: Vitamin B12-binding protein. Transports cobalamin into cells

         Genatlas biochemistry entry for TCN1:
    transcobalamin 1 (vitamin B12 binding protein,R binder family),in secondary granules of mature neutrophils

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031419cobalamin binding IBA--


    TCN1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TCN1:
     Cell cycle / mitosis defect 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCN1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TCN1 (ENSP000002572644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBLENSP000002640334STRING: ENSP00000264033
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006824cobalt ion transport IEA--
    GO:0009235cobalamin metabolic process IBA--
    GO:0015889cobalamin transport IEA--


    TCN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TCN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TCN1

    3 HMDB Compounds for TCN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    CobaltCo (see all 6)7440-48-4--
    CyanocobalaminDimethylbenzimidazoylcobamide (see all 92)68-19-9--

    2 DrugBank Compounds for TCN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9transportersubstrate17259255 16047053
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetother6726060 844253

    9 Novoseek chemical compound relationships for TCN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cobalamin 93.9 51 8988263 (2), 12881454 (2), 16384893 (2), 12356110 (1) (see all 32)
    vitamin b12 87.9 44 17990953 (2), 8689919 (2), 16613998 (2), 8172125 (2) (see all 25)
    cobinamide 87.1 1 11788601 (1)
    methylmalonic acid 81.4 1 17990953 (1)
    corrinoid 67.7 5 2070790 (3), 19299543 (1)
    methylcobalamin 56.3 1 7772517 (1)
    homocysteine 47.2 1 11259691 (1)
    cobalt 28.3 1 2070790 (1)
    methionine 13.2 1 16470748 (1)

    Search CenterWatch for drugs/clinical trials and news about TCN1 / TCO1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TCN1 gene: 
    NM_001062.3  

    Unigene Cluster for TCN1:

    Transcobalamin I (vitamin B12 binding protein, R binder family)
    Hs.2012  [show with all ESTs]
    Unigene Representative Sequence: NM_001062
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529251 ENST00000257264(uc001noj.2) ENST00000532419 ENST00000534531
    ENST00000533734

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    Additional cDNA sequence: 

    AK292990.1 BC018632.1 J05068.1 

    4 DOTS entries:

    DT.411203  DT.102821453  DT.91709439  DT.99957312 

    24/71 AceView cDNA sequences (see all 71):

    BM769693 BM769239 BM830954 CB123040 BM830340 AA155640 BM769834 BQ084191 
    CD723971 BX281344 NM_001062 BU675098 AW192630 AA347734 CB048956 BP370727 
    BU689883 BF102528 BC018632 AW604102 AA372040 BE005813 BX480228 J05068 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TCN1    About this scheme

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


    ECgene alternative splicing isoforms for TCN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TCN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TCN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCN1

    SOURCE GeneReport for Unigene cluster: Hs.2012

    UniProtKB/Swiss-Prot: TCO1_HUMAN, P20061
    Tissue specificity: Neutrophil granule protein

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TCN1 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia TCN16
    --
    47(a)
    1 ↔ 1
    1(90850658-90858733)


    ENSEMBL Gene Tree for TCN1 (if available)
    TreeFam Gene Tree for TCN1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TCN1 gene
    GIF2  TCN22  
    1 SIMAP similar gene for TCN1 using alignment to 1 protein entry:     TCO1_HUMAN:
    GIF

    TCN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/290 NCBI SNPs in TCN1 are shown (see all 290    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1919046761,2
    --59619882(+) AGGGGA/GTGAGA 1 -- ds50010--------
    rs1162153071,2
    F,--59619884(+) GGGATG/AAGATT 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1841579971,2
    --59619920(+) TTATGA/TATATG 1 -- ds50010--------
    rs800886711,2
    F,--59619931(+) CCTCAC/TGTTTC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1125844731,2
    --59619940(+) TCCCCC/TTTTCT 1 -- ds50012Minor allele frequency- T:0.02CSA WA 120
    rs1495028531,2
    --59619975(+) CACTAC/GCTGTA 1 -- ds50010--------
    rs802048951,2
    F,--59620015(+) CTTGCA/CTCTGG 1 -- ds50011Minor allele frequency- C:0.03NA 120
    rs725617801,2
    F--59620113(-) CAACTG/CGGTAA 1 -- ds50015Minor allele frequency- C:0.01MN 404
    rs1114763001,2
    F--59620153(+) AACCTG/TGAGTA 1 -- ds50011Minor allele frequency- T:0.50CSA 6
    rs755791161,2
    --59620173(+) TTATTA/TGACAT 1 -- ds50012Minor allele frequency- T:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for TCN1 (59620273 - 59634048 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TCN1
         1 CNV: 38238
    Human Gene Mutation Database (HGMD): TCN1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TCN1 for disorders           About GeneDecksing

    OMIM gene information: 189905    OMIM disorders: --

    20/35 diseases for TCN1 (see all 35):    About MalaCards
    diffuse large b-cell lymphoma    neural tube defect    b-cell lymphomas    non-hodgkin lymphoma
    pernicious anemia    spontaneous abortion    megaloblastic anemia    cleft lip
    cleft palate    hodgkin's lymphoma    rheumatoid arthritis    myeloproliferative disorder
    follicular lymphoma    oral cancer    anemia    hyperhomocysteinemia
    hepatocellular carcinoma    down syndrome    vascular disease    crohn's disease

    3 diseases from the University of Copenhagen DISEASES database for TCN1:
    Vitamin B12 deficiency     Megaloblastic anemia     Pernicious anemia

    7 Novoseek disease relationships for TCN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin b12 deficiency 41.8 1 12356110 (1)
    myeloid leukemia chronic 29.2 1 8301203 (1)
    oral cancer 20.9 3 8820365 (2), 9587699 (1)
    hepatocellular carcinoma 0 1 10101589 (1)
    rheumatoid arthritis 0 3 1602292 (1), 2062181 (1)
    anemia 0 4 1602292 (1)
    tumors 0 1 18413759 (1)

    Genetic Association Database (GAD): TCN1
    Human Genome Epidemiology (HuGE) Navigator: TCN1 (21 documents)

    Export disorders for TCN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TCN1 gene, integrated from 9 sources (see all 134):
    (articles sorted by number of sources associating them with TCN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (2006)
    2. Transcobalamin 776C->G polymorphism negatively affects vitamin B-12 metabolism. (PubMed id 15941899)1, 4 von Castel-Dunwoody K.M....Bailey L.B. (2005)
    3. Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French population. (PubMed id 16268464)1, 4 Gueant-Rodriguez R.M....Gueant J.L. (2005)
    4. Homocysteine and related genetic polymorphisms in Down's syndrome IQ. (PubMed id 15834031)1, 4 Gueant J.L....Romano C. (2005)
    5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    6. Transcobalamin polymorphism and serum holo-transcobalamin in relation to Alzheimer's disease. (PubMed id 14739547)1, 4 McCaddon A....Regland B. (2004)
    7. Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease. (PubMed id 15201366)1, 4 Bosco P....Gueant J.L. (2004)
    8. Homocysteine and methylenetetrahydrofolate reductase polymorphism in Alzheimer's disease. (PubMed id 15073531)1, 4 Anello G....Ferri R. (2004)
    9. The role of genetic factors in the development of hyperhomocysteinemia. (PubMed id 14656021)1, 4 Geisel J....Herrmann W. (2003)
    10. Gene-gene interaction between fetal MTHFR 677C>T and transcobalamin 776C>G polymorphisms in human spontaneous abortion. (PubMed id 12923155)1, 4 Zetterberg H....Blennow K. (2003)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6947 HGNC: 11652 AceView: TCN1 Ensembl:ENSG00000134827 euGenes: HUgn6947
    ECgene: TCN1 H-InvDB: TCN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TCN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TCN1 gene:
    Search GeneIP for patents involving TCN1

    GeneCards and IP:
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