Format

Send to:

Choose Destination

TF transferrin [ Homo sapiens (human) ]

Gene ID: 7018, updated on 15-Apr-2019

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

Genomic context

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 HNF1 motif-containing MPRA enhancer 82 Neighboring gene RNA, U6 small nuclear 678, pseudogene Neighboring gene inhibitor of carbonic anhydrase pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 140 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Atransferrinemia
MedGen: C0521802 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

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 BioSystems

  • 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...

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
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 
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 
iron ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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 transport 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
 
trivalent inorganic cation transport IEA
Inferred from Electronic Annotation
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
 
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)

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_001354703.1NP_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

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)
Support Center