Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    TCN1 transcobalamin 1 [ Homo sapiens (human) ]

    Gene ID: 6947, updated on 26-Nov-2016
    Official Symbol
    TCN1provided by HGNC
    Official Full Name
    transcobalamin 1provided by HGNC
    Primary source
    HGNC:HGNC:11652
    See related
    Ensembl:ENSG00000134827 HPRD:01795; MIM:189905; Vega:OTTHUMG00000167400
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HC; TC1; TCI; TC-1
    Summary
    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]
    Orthologs
    Location:
    11q12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (59852808..59866568, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59620281..59634041, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L16 Neighboring gene gastric intrinsic factor Neighboring gene steroid 5 alpha-reductase 3 pseudogene 1 Neighboring gene oocyte secreted protein 1, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
    NHGRI GWA Catalog
    Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
    NHGRI GWA Catalog
    Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
    NHGRI GWA Catalog
    • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
      Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Vitamin B12 Metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin B12 Metabolism, organism-specific biosystem
      Vitamin B12 Metabolism
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cobalamin metabolic process TAS
    Traceable Author Statement
    more info
     
    cobalamin transport IEA
    Inferred from Electronic Annotation
    more info
     
    cobalt ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transcobalamin-1
    Names
    haptocorin
    haptocorrin
    protein R
    transcobalamin I (vitamin B12 binding protein, R binder family)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001062.3NP_001053.2  transcobalamin-1 precursor

      See identical proteins and their annotated locations for NP_001053.2

      Status: REVIEWED

      Source sequence(s)
      BC018632, BM769693, BM818792, BP370727, J05068
      Consensus CDS
      CCDS7978.1
      UniProtKB/Swiss-Prot
      P20061
      Related
      ENSP00000257264, OTTHUMP00000235879, ENST00000257264, OTTHUMT00000394503
      Conserved Domains (2) summary
      pfam01122
      Location:24327
      Cobalamin_bind; Eukaryotic cobalamin-binding protein
      pfam14478
      Location:356432
      DUF4430; Domain of unknown function (DUF4430)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      59852808..59866568 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      59486270..59500030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center