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    TF transferrin [ Homo sapiens (human) ]

    Gene ID: 7018, updated on 3-Nov-2024

    Summary

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

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    Location:
    3q22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (133661998..133796641)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (136407161..136541840)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133380842..133515485)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20553 Neighboring gene DNA topoisomerase II binding protein 1 Neighboring gene uncharacterized LOC124909487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20554 Neighboring gene HNF1 motif-containing MPRA enhancer 82 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:133393453-133393983 Neighboring gene RNA, U6 small nuclear 678, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 140 Neighboring gene inhibitor of carbonic anhydrase pseudogene Neighboring gene uncharacterized LOC105374116 Neighboring gene ACSL3 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:133513906-133514490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20559 Neighboring gene SRP receptor subunit beta Neighboring gene ReSE screen-validated silencer GRCh37_chr3:133554421-133554601 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:133558716-133559216 Neighboring gene NANOG hESC enhancer GRCh37_chr3:133573718-133574219 Neighboring gene RAB6B, member RAS oncogene family Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:133576178-133576792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14751 Neighboring gene chromosome 3 putative open reading frame 36

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Binding of [Cr(phen)3](3+) to transferrin at extracellular and endosomal pHs: potential application in photodynamic therapy. Garcia PF, et al. Biochim Biophys Acta, 2014 Sep. PMID 24972167
    2. Carbohydrate-deficient transferrin as a marker of heavy drinking in Korean males. Kim SM, et al. J Korean Med Sci, 2007 Aug. PMID 17728504, Free PMC Article
    3. Identification of reduction-susceptible disulfide bonds in transferrin by differential alkylation using O(16)/O(18) labeled iodoacetic acid. Wang S, et al. J Am Soc Mass Spectrom, 2015 May. PMID 25716754, Free PMC Article
    4. Influence of alcohol use, ethnicity, age, gender, BMI and smoking on the serum transferrin glycoform pattern: implications for use of carbohydrate-deficient transferrin (CDT) as alcohol biomarker. Bergström JP, et al. Clin Chim Acta, 2008 Feb. PMID 17980706
    5. Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis. de Tayrac M, et al. J Hepatol, 2015 Mar. PMID 25457201

    See all (433) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between serum transferrin saturation levels and heart failure in adults aged >/=40 years: a cross-sectional study based on NHANES (2017-2020.03).
      Title: Association between serum transferrin saturation levels and heart failure in adults aged ≥40 years: a cross-sectional study based on NHANES (2017-2020.03).
    2. "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
      Title: "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
    3. Cohort-Based Reference Values for Serum Ferritin and Transferrin and Longitudinal Determinants of Iron Status in European Children Aged 3-15 Years.
      Title: Cohort-Based Reference Values for Serum Ferritin and Transferrin and Longitudinal Determinants of Iron Status in European Children Aged 3-15 Years.
    4. Evaluation of salivary transferrin in patients with oral squamous cell carcinoma.
      Title: Evaluation of salivary transferrin in patients with oral squamous cell carcinoma.
    5. Height of non-Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt.
      Title: Height of non-Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt.
    6. Meconium Transferrin and Ferritin as Markers of Homeostasis in the Developing Fetus.
      Title: Meconium Transferrin and Ferritin as Markers of Homeostasis in the Developing Fetus.
    7. Transferrin promotes chondrogenic differentiation in condylar growth through inducing autophagy via ULK1-ATG16L1 axis.
      Title: Transferrin promotes chondrogenic differentiation in condylar growth through inducing autophagy via ULK1-ATG16L1 axis.
    8. Macromolecular Crowding Promotes Re-entrant Liquid-Liquid Phase Separation of Human Serum Transferrin and Prevents Surface-Induced Fibrillation.
      Title: Macromolecular Crowding Promotes Re-entrant Liquid-Liquid Phase Separation of Human Serum Transferrin and Prevents Surface-Induced Fibrillation.
    9. The hepatic niche leads to aggressive natural killer cell leukemia proliferation through the transferrin-transferrin receptor 1 axis.
      Title: The hepatic niche leads to aggressive natural killer cell leukemia proliferation through the transferrin-transferrin receptor 1 axis.
    10. COVID-19 compromises iron homeostasis: Transferrin as a target of investigation.
      Title: COVID-19 compromises iron homeostasis: Transferrin as a target of investigation.
    Submit: New GeneRIF Correction See all GeneRIFs (252)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Atransferrinemia
    MedGen: C0521802 OMIM: 209300 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp781D0156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade 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
    		  
    involved_in cellular response to iron ion IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in intracellular iron ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in iron ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in multicellular organismal-level iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription 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 proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 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 
    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
    		  
    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 IGI
    Inferred from Genetic Interaction
    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
    		  
    is_active_in extracellular space IDA
    Inferred from Direct Assay
    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
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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

    NCBI Reference Sequences (RefSeq)

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    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_013080.3 RefSeqGene

      Range
      89397..139645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001063.4 → NP_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
      UniProtKB/Swiss-Prot
      O43890, P02787, Q1HBA5, Q9NQB8, Q9UHV0
      Related
      ENSP00000385834.3, ENST00000402696.9
      Conserved Domains (2) summary
      cd13617
      Location:358 → 682
      PBP2_transferrin_C; The C-lobe of transferrin, a member of the type 2 periplasmic binding protein fold superfamily
      cd13618
      Location:24 → 346
      PBP2_transferrin_N; The N-lobe of transferrin, a member of the type 2 periplasmic binding protein fold superfamily

    2. NM_001354703.2 → NP_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
      UniProtKB/Swiss-Prot
      O43890, P02787, Q1HBA5, Q9NQB8, Q9UHV0
      Conserved Domains (2) summary
      cd13617
      Location:314 → 638
      PBP2_transferrin_C; The C-lobe of transferrin, a member of the type 2 periplasmic binding protein fold superfamily
      pfam00405
      Location:1 → 303
      Transferrin

    3. NM_001354704.2 → NP_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
      UniProtKB/TrEMBL
      B4DI57
      Conserved Domains (2) summary
      cd13617
      Location:231 → 555
      PBP2_transferrin_C; The C-lobe of transferrin, a member of the type 2 periplasmic binding protein fold superfamily
      pfam00405
      Location:1 → 220
      Transferrin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      136407161..136541840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02787.4 GenPept UniProtKB/Swiss-Prot:P02787

    Gene LinkOut

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