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TF transferrin [ Homo sapiens (human) ]

Gene ID: 7018, updated on 6-Jul-2014
Official Symbol
TFprovided by HGNC
Official Full Name
transferrinprovided by HGNC
Primary source
HGNC:11740
Locus tag
PRO1400
See related
Ensembl:ENSG00000091513; HPRD:01811; 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
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]
Location:
3q22.1
Exon count :
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (133746133..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 topoisomerase (DNA) II binding protein 1 Neighboring gene transferrin pseudogene 1 Neighboring gene acyl-CoA synthetase long-chain family member 3 pseudogene Neighboring gene signal recognition particle receptor, B subunit Neighboring gene RAB6B, member RAS oncogene family

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 association study identifies genetic loci associated with iron deficiency.
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
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, p27 nef HIV-1 Nef co-localizes with CTLA-4 in early and recycling endosomes with transferrin marker protein in HeLa cells PubMed

Go to the HIV-1, Human Protein Interaction Database

  • EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHB forward signaling, organism-specific biosystem
    EPHB forward signaling
  • 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 ...
  • 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...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ferric iron binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
retina homeostasis IEP
Inferred from Expression Pattern
more info
 
transferrin transport TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
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 IDA
Inferred from Direct Assay
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
coated pit IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic membrane-bounded 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 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
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
 
Preferred Names
serotransferrin
Names
serotransferrin
siderophilin
beta-1 metal-binding globulin

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_013080.1 

    Range
    5001..37874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001063.3NP_001054.1  serotransferrin precursor

    See proteins identical to NP_001054.1

    Status: REVIEWED

    Source sequence(s)
    BC020671, BC059367, BU740589, DC352309, DQ923758
    Consensus CDS
    CCDS3080.1
    UniProtKB/TrEMBL
    A0PJA6
    UniProtKB/Swiss-Prot
    P02787
    UniProtKB/TrEMBL
    Q06AH7
    Related
    ENSP00000385834, OTTHUMP00000197155, ENST00000402696, OTTHUMT00000317775
    Conserved Domains (3) summary
    smart00094
    Location:361683
    Blast Score: 1310
    TR_FER; Transferrin
    pfam00405
    Location:25347
    Blast Score: 1631
    Transferrin; Transferrin
    cl19131
    Location:384486
    Blast Score: 100
    Phosphonate-bd; ABC transporter, phosphonate, periplasmic substrate-binding protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    133746133..133779006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    130844635..130877514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    133428386..133461264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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