TF transferrin [Homo sapiens (human)] - Gene

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Title: "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
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.
Evaluation of salivary transferrin in patients with oral squamous cell carcinoma.
Title: Evaluation of salivary transferrin in patients with oral squamous cell carcinoma.
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.
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.
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.
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.
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.
COVID-19 compromises iron homeostasis: Transferrin as a target of investigation.
Title: COVID-19 compromises iron homeostasis: Transferrin as a target of investigation.
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	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 EBI GWAS CatalogPubMed
Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies genetic loci associated with iron deficiency. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77354 (e-PCR)
- UniSTS:41242

RH78748 (e-PCR)
- UniSTS:53541

SHGC-106312 (e-PCR)
- UniSTS:169774

SHGC-106360 (e-PCR)
- UniSTS:169775

D8S2279 (e-PCR)
- UniSTS:473907

STS-T64298 (e-PCR)
- UniSTS:55653

D1S1423 (e-PCR)
- UniSTS:149619

STS-H55960 (e-PCR)
- UniSTS:29840

D16S325 (e-PCR)
- UniSTS:147089

SHGC-33327 (e-PCR)
- UniSTS:64946

SGC31261 (e-PCR)
- UniSTS:46545

STS-R05291 (e-PCR)
- UniSTS:731

D3S4166 (e-PCR)
- UniSTS:12526

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 more info	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 more info	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 more info	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

NG_013080.3 RefSeqGene

Range

89397..139645

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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