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    TF transferrin [ Homo sapiens (human) ]

    Gene ID: 7018, updated on 8-Jul-2021

    Summary

    Official Symbol
    TFprovided by HGNC
    Official Full Name
    transferrinprovided by HGNC
    Primary source
    HGNC:HGNC:11740
    See related
    Ensembl:ENSG00000091513 MIM:190000
    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
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    Genomic context

    Location:
    3q22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (133661998..133796641)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133380842..133515485)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CDV3 homolog Neighboring gene DNA topoisomerase II binding protein 1 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 inhibitor of carbonic anhydrase pseudogene Neighboring gene acyl-CoA synthetase long chain family member 3 pseudogene Neighboring gene uncharacterized LOC105374116 Neighboring gene SRP receptor subunit beta Neighboring gene RAB6B, member RAS oncogene family Neighboring gene chromosome 3 putative open reading frame 36

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
    GeneReviews: Not available
    Atransferrinemia
    MedGen: C0521802 OMIM: 209300 GeneReviews: Not available
    Compare labs
    Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.
    GeneReviews: Not available
    Genome-wide association study identifies genetic loci associated with iron deficiency.
    GeneReviews: Not available
    Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
    GeneReviews: Not available
    Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
    GeneReviews: Not available
    Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
    GeneReviews: Not available
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    GeneReviews: Not available
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp781D0156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ferric iron binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iron chaperone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transferrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transferrin receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in actin filament organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in antibacterial humoral response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to iron ion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in iron ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    involved_in iron ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell motility IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor-mediated endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of iron ion transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of protein stability TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in retina homeostasis HEP PubMed 
    Component Evidence Code Pubs
    part_of HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basal part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in blood microparticle HDA PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extrinsic component of external side of plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    serotransferrin
    Names
    beta-1 metal-binding globulin
    epididymis secretory sperm binding protein Li 71p
    siderophilin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001063.4NP_001054.2  serotransferrin isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC080128, AC083905
      Consensus CDS
      CCDS3080.1
      Related
      ENSP00000385834.3, ENST00000402696.9
      Conserved Domains (2) summary
      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
    2. NM_001354703.2NP_001341632.2  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
      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_001354704.2NP_001341633.2  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
      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
      pfam00405
      Location:1220
      Transferrin

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      133661998..133796641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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