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    TF transferrin [ Homo sapiens (human) ]

    Gene ID: 7018, updated on 9-Apr-2018
    Official Symbol
    TFprovided by HGNC
    Official Full Name
    transferrinprovided by HGNC
    Primary source
    HGNC:HGNC:11740
    See related
    Ensembl:ENSG00000091513 MIM:190000; Vega:OTTHUMG00000150356
    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
    TFQTL1; PRO1557; PRO2086; HEL-S-71p
    Summary
    This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]
    Expression
    Restricted expression toward liver (RPKM 1622.3) See more
    Orthologs
    Location:
    3q22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (133661986..133779006)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133464977..133497850)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CDV3 homolog Neighboring gene DNA topoisomerase II binding protein 1 Neighboring gene uncharacterized LOC112268453 Neighboring gene HNF1 motif-containing MPRA enhancer 82 Neighboring gene RNA, U6 small nuclear 678, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 140 Neighboring gene transferrin pseudogene 1 Neighboring gene acyl-CoA synthetase long chain family member 3 pseudogene Neighboring gene uncharacterized LOC105374116 Neighboring gene SRP receptor beta subunit Neighboring gene RAB6B, member RAS oncogene family

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Atransferrinemia
    MedGen: C1859593 OMIM: 209300 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
    NHGRI GWA Catalog
    Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.
    NHGRI GWA Catalog
    Genome-wide association study identifies genetic loci associated with iron deficiency.
    NHGRI GWA Catalog
    Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
    NHGRI GWA Catalog
    Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
    NHGRI GWA Catalog
    Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
    NHGRI GWA Catalog
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    NHGRI GWA Catalog
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef co-localizes with CTLA-4 in early and recycling endosomes with transferrin marker protein in HeLa cells PubMed
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of transferrin (TF) in primary human brain microvascular endothelial cells PubMed
    capsid gag HIV-1 CA colocalizes with TF in follicular dendritic cells from lymph nodes of HIV infected patients on antiretroviral therapy PubMed
    matrix gag HIV-1 MA associates with transferrin in recycling endosomes in human vaginal epithelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
      Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
    • EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
      EPHB forward signaling, organism-specific biosystem
      EPHB forward signaling
    • Ferroptosis, organism-specific biosystem (from KEGG)
      Ferroptosis, organism-specific biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
    • Ferroptosis, conserved biosystem (from KEGG)
      Ferroptosis, conserved biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
    • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
      HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Iron metabolism in placenta, organism-specific biosystem (from WikiPathways)
      Iron metabolism in placenta, organism-specific biosystemDuring pregnancy, iron is transported from mother to fetus across the placenta. Iron is essential for many biological processes, including the transfer of oxygen in blood, but it can also be toxic. E...
    • Iron uptake and transport, organism-specific biosystem (from REACTOME)
      Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
      Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp781D0156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ferric iron binding IEA
    Inferred from Electronic Annotation
    more info
     
    ferric iron transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron chaperone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal recognition particle binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transferrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferrin receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to iron ion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    iron ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    membrane organization TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of receptor-mediated endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    regulation of iron ion import IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of protein stability TAS
    Traceable Author Statement
    more info
    PubMed 
    retina homeostasis HEP PubMed 
    transferrin transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basal part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    blood microparticle HDA PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    extrinsic component of external side of plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    signal recognition particle receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    serotransferrin
    Names
    beta-1 metal-binding globulin
    epididymis secretory sperm binding protein Li 71p
    siderophilin

    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.

    Genomic

    1. NG_013080.2 RefSeqGene

      Range
      89136..122009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001063.3NP_001054.1  serotransferrin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC020671, BC059367, BU740589, DC352309, DQ923758
      Consensus CDS
      CCDS3080.1
      UniProtKB/Swiss-Prot
      P02787
      UniProtKB/TrEMBL
      A0PJA6, Q06AH7
      Related
      ENSP00000385834.3, OTTHUMP00000197155, ENST00000402696.8, OTTHUMT00000317775
      Conserved Domains (4) summary
      smart00094
      Location:361683
      TR_FER; Transferrin
      cd13617
      Location:358682
      PBP2_transferrin_C; The C-lobe of transferrin, a member of the type 2 periplasmic binding protein fold superfamily
      cd13618
      Location:24346
      PBP2_transferrin_N; The N-lobe of transferrin, a member of the type 2 periplasmic binding protein fold superfamily
      pfam00405
      Location:25347
      Transferrin; Transferrin
    2. NM_001354703.1NP_001341632.1  serotransferrin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC080128, AC083905, BC059367
      Conserved Domains (2) summary
      cd13617
      Location:314638
      PBP2_transferrin_C; The C-lobe of transferrin, a member of the type 2 periplasmic binding protein fold superfamily
      pfam00405
      Location:1303
      Transferrin
    3. NM_001354704.1NP_001341633.1  serotransferrin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC080128, AC083905, BC059367
      Conserved Domains (2) summary
      cd13617
      Location:231555
      PBP2_transferrin_C; The C-lobe of transferrin, a member of the type 2 periplasmic binding protein fold superfamily
      cl26270
      Location:1220
      Transferrin; Transferrin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      133661986..133779006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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