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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]
TF (Transferrin) is a Protein Coding gene. Diseases associated with TF include Atransferrinemia and Iron Deficiency Anemia. Among its related pathways are Clathrin-mediated endocytosis and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and ferric iron transmembrane transporter activity. An important paralog of this gene is LTF.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH03J133660 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 605 | -0.5 | -484 | 3 | CREB1 PRDM10 ZNF629 ZNF692 POLR2A BACH1 ETV6 JUND LARP7 STAT3 | INHCAP TOPBP1 TF lnc-TF-3 lnc-CDV3-2 CDV3 | |
GH03J133746 | Promoter/Enhancer | 1.6 | EPDnew Ensembl dbSUPER | 604.6 | +84.3 | 84304 | 0.2 | HNRNPL GATAD2A ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 RBFOX2 RXRB | TF piR-60885-083 ENSG00000244062 lnc-SRPRB-3 SRPRB TOPBP1 INHCAP | |
GH03J133663 | Enhancer | 0.8 | ENCODE | 600.7 | +1.9 | 1894 | 0.5 | GATAD2A CTCF PRDM1 ZNF143 RXRB REST NR2C1 RAD21 TRIM22 NR2C2 | TOPBP1 INHCAP RF00026-735 TF RNU6-678P lnc-TF-3 SRPRB | |
GH03J133664 | Promoter | 0.5 | Ensembl | 600.7 | +1.4 | 1403 | 0.4 | PRDM1 CTCF | TOPBP1 INHCAP RF00026-735 TF RNU6-678P lnc-TF-3 SRPRB | |
GH03J133784 | Promoter | 0.3 | EPDnew | 600.1 | +122.8 | 122827 | 0.1 | SRPRB piR-31508-035 lnc-TF-12 TF LOC105374116 RAB6B |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 14691533 |
GO:0008198 | ferrous iron binding | IDA | 18353247 |
GO:0008199 | ferric iron binding | IEA | -- |
GO:0015091 | ferric iron transmembrane transporter activity | IEA | -- |
GO:0034986 | iron chaperone activity | IDA | 18353247 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005623 | cell | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IEA,IDA | 15880641 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
2 | Clathrin-mediated endocytosis | ||
3 | Insulin receptor recycling | ||
4 | Vesicle-mediated transport | ||
5 | Ferroptosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001895 | retina homeostasis | HEP | 23580065 |
GO:0002576 | platelet degranulation | TAS | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006826 | iron ion transport | IEA | -- |
GO:0006879 | cellular iron ion homeostasis | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Iron | Approved, Experimental | Pharma | Target | 1560 | ||
Aluminium | Approved, Investigational | Pharma | Target | 0 | ||
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Iron Dextran | Approved, Vet_approved | Pharma | Carrier, substrate | 0 | ||
Aluminium phosphate | Approved, Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Carbonic acid |
|
71-52-3, 463-79-6 |
|
Compound | Action | Cas Number |
---|---|---|
transferrin fragment | Transferrin fragment |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 17 | ^ | 18a | · | 18b |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TF 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TF 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Trf 30 17 31 |
|
OneToMany | |
Gm20425 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | TF 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tf 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | TF 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tf 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tfa 30 31 |
|
OneToMany | |
Dr.28538 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tsf2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4617 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
694735 | Likely Pathogenic: Atransferrinemia | 133,770,444(+) | CT/C | INTRON_VARIANT | |
708660 | Likely Benign: not provided | 133,759,299(+) | G/A | SYNONYMOUS_VARIANT | |
711120 | Likely Benign: not provided | 133,770,570(+) | G/T | MISSENSE_VARIANT | |
713199 | Likely Benign: not provided | 133,777,080(+) | C/T | MISSENSE_VARIANT | |
716527 | Benign: not provided | 133,748,493(+) | G/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
atransferrinemia |
|
|
iron deficiency anemia |
|
|
iron overload in africa |
|
|
nutritional deficiency disease |
|
|
iron metabolism disease |
|