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TF transferrin [ Homo sapiens (human) ]

Gene ID: 7018, updated on 7-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (133661998..133796641)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (136407161..136541840)
105.20220307 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
  • 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. COVID-19 compromises iron homeostasis: Transferrin as a target of investigation. Gaiatto ACM, et al. J Trace Elem Med Biol, 2023 Mar. PMID 36509021, Free PMC Article
  2. Low transferrin levels predict heightened inflammation in patients with COVID-19: New insights. Claise C, et al. Int J Infect Dis, 2022 Mar. PMID 34952211, Free PMC Article
  3. X-ray Characterization of Conformational Changes of Human Apo- and Holo-Transferrin. Campos-Escamilla C, et al. Int J Mol Sci, 2021 Dec 13. PMID 34948188, Free PMC Article
  4. Comparison of the Diagnostic Value of Phosphatidylethanol and Carbohydrate-Deficient Transferrin as Biomarkers of Alcohol Consumption. Ă…rving A, et al. Alcohol Clin Exp Res, 2021 Jan. PMID 33164220
  5. MD simulation reveals differential binding of Cm(III) and Th(IV) with serum transferrin at acidic pH. Mishra L, et al. Proteins, 2021 Feb. PMID 32892408

See all (413) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
    Title: "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
  2. 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.
  3. Evaluation of salivary transferrin in patients with oral squamous cell carcinoma.
    Title: Evaluation of salivary transferrin in patients with oral squamous cell carcinoma.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. COVID-19 compromises iron homeostasis: Transferrin as a target of investigation.
    Title: COVID-19 compromises iron homeostasis: Transferrin as a target of investigation.
  10. TF and TCF4 gene polymorphisms are linked to autism spectrum disorder: a case-control study.
    Title: TF and TCF4 gene polymorphisms are linked to autism spectrum disorder: a case-control study.
Submit: New GeneRIF Correction See all GeneRIFs (251)

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
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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 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 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 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 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
  
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_2023_10

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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
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