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Aliases for TF Gene

Aliases for TF Gene

  • Transferrin 2 3 4 5
  • Beta-1 Metal-Binding Globulin 3 4
  • Siderophilin 3 4
  • Epididymis Secretory Sperm Binding Protein Li 71p 3
  • Serotransferrin 3
  • HEL-S-71p 3
  • EC 3.4.21 61
  • PRO1557 3
  • PRO2086 3
  • TFQTL1 3

External Ids for TF Gene

Previous GeneCards Identifiers for TF Gene

  • GC03P130424
  • GC03P134209
  • GC03P134746
  • GC03P134786
  • GC03P134727
  • GC03P134947
  • GC03P133419
  • GC03P130844
  • GC03P133464
  • GC03P133745

Summaries for TF Gene

Entrez Gene Summary for TF Gene

  • 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]

GeneCards Summary for TF Gene

TF (Transferrin) is a Protein Coding gene. Diseases associated with TF include Atransferrinemia and Nutritional Deficiency Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. 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.

UniProtKB/Swiss-Prot for TF Gene

  • Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.

Gene Wiki entry for TF Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TF Gene

Genomics for TF Gene

Regulatory Elements for TF Gene

Enhancers for TF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G133763 0.8 ENCODE dbSUPER 21.1 +102.6 102644 1.3 PAF1 ZNF146 POLR2A NFIA ZNF580 ZBTB33 RBFOX2 SRPRB TF C3orf36 LOC100421637
GH03G133742 1.5 Ensembl ENCODE dbSUPER 7.8 +80.9 80867 0.8 FOXA2 ATF1 MLX ARNT ARID4B DMAP1 ZNF48 YY1 SP5 MXD4 RNU6-678P TOPBP1 TF PIR42738 LOC100421637
GH03G133752 0.9 dbSUPER 11.4 +91.7 91661 2.3 HDAC1 PKNOX1 TBL1XR1 ARNT CHAMP1 TCF12 ZNF766 GATA2 NCOA1 ZEB2 TF SRPRB LOC100421637 PIR42738
GH03G133747 1.2 ENCODE dbSUPER 5.2 +86.4 86370 1.0 HDAC1 HDGF ATF1 TBL1XR1 RAD21 TCF12 GATA2 EGR1 CREM CBFB TF LOC100421637 PIR42738
GH03G133754 0.5 dbSUPER 10.6 +93.5 93523 1.2 POLR2A U2AF1 RBFOX2 NR2F2 TRIM28 SRPRB TF LOC100421637 PIR42738
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TF on UCSC Golden Path with GeneCards custom track

Promoters for TF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158634 -298 1801 PKNOX1 ATF1 CREB3L1 ARID4B E2F7 SIN3A FEZF1 DMAP1 ZNF48 ETS1

Genomic Location for TF Gene

Chromosome:
3
Start:
133,661,998 bp from pter
End:
133,779,006 bp from pter
Size:
117,009 bases
Orientation:
Plus strand

Genomic View for TF Gene

Genes around TF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TF Gene

Proteins for TF Gene

  • Protein details for TF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02787-TRFE_HUMAN
    Recommended name:
    Serotransferrin
    Protein Accession:
    P02787
    Secondary Accessions:
    • O43890
    • Q1HBA5
    • Q9NQB8
    • Q9UHV0

    Protein attributes for TF Gene

    Size:
    698 amino acids
    Molecular mass:
    77064 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAF22007.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TF Gene

neXtProt entry for TF Gene

Selected DME Specific Peptides for TF Gene

P02787:
  • GDVAFVK
  • KADRDQYELLC
  • YSGAFKCL
  • GKKSCHT

Post-translational modifications for TF Gene

  • Glycosylation at isoforms=51, isoforms=432, Asn491, and Asn630
  • Modification sites at PhosphoSitePlus

Protein Products

Domains & Families for TF Gene

Gene Families for TF Gene

Suggested Antigen Peptide Sequences for TF Gene

Graphical View of Domain Structure for InterPro Entry

P02787

UniProtKB/Swiss-Prot:

TRFE_HUMAN :
  • Belongs to the transferrin family.
Family:
  • Belongs to the transferrin family.
genes like me logo Genes that share domains with TF: view

Function for TF Gene

Molecular function for TF Gene

GENATLAS Biochemistry:
transferrin with three predominant variants Tfc1,Tfc2 (P570S),TFC3
UniProtKB/Swiss-Prot Function:
Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.

Enzyme Numbers (IUBMB) for TF Gene

Gene Ontology (GO) - Molecular Function for TF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity IEA --
GO:0005515 protein binding IPI 15880641
GO:0008198 ferrous iron binding IDA 18353247
GO:0008199 ferric iron binding IEA --
GO:0015091 ferric iron transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with TF: view
genes like me logo Genes that share phenotypes with TF: view

Human Phenotype Ontology for TF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TF Gene

miRTarBase miRNAs that target TF

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TF
  • Applied Biological Materials Clones for TF

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TF Gene

Localization for TF Gene

Subcellular locations from UniProtKB/Swiss-Prot for TF Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TF gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
cytosol 3
lysosome 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for TF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005769 early endosome IDA 15880641
GO:0005770 late endosome IDA 15880641
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with TF: view

Pathways & Interactions for TF Gene

genes like me logo Genes that share pathways with TF: view

Gene Ontology (GO) - Biological Process for TF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEP 23580065
GO:0002576 platelet degranulation TAS --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006826 iron ion transport IEA --
genes like me logo Genes that share ontologies with TF: view

No data available for SIGNOR curated interactions for TF Gene

Drugs & Compounds for TF Gene

(76) Drugs for TF Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aluminium Approved Pharma Target 0
Iron Dextran Approved, Vet_approved Pharma Carrier, substrate 0
Bismuth Subsalicylate Approved, Vet_approved Pharma Carrier 26
Gallium nitrate Approved, Investigational Pharma Carrier, substrate 6
Iron saccharate Approved Pharma Carrier 0

(63) Additional Compounds for TF Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Aluminum
  • Al
  • Alloy
  • ALN
  • Alugel
  • Alum
7429-90-5
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3

(1) ApexBio Compounds for TF Gene

Compound Action Cas Number
transferrin fragment Transferrin fragment
genes like me logo Genes that share compounds with TF: view

Drug Products

Transcripts for TF Gene

Unigene Clusters for TF Gene

Transferrin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TF
  • Applied Biological Materials Clones for TF

Alternative Splicing Database (ASD) splice patterns (SP) for TF Gene

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:

Relevant External Links for TF Gene

GeneLoc Exon Structure for
TF
ECgene alternative splicing isoforms for
TF

Expression for TF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TF Gene

This gene is overexpressed in Liver (x19.0), Brain - Spinal cord (cervical c-1) (x13.3), and Brain - Substantia nigra (x5.4).

Protein differential expression in normal tissues from HIPED for TF Gene

This gene is overexpressed in Vitreous humor (10.4), Plasma (7.7), and Cerebrospinal fluid (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TF Gene



Protein tissue co-expression partners for TF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TF Gene:

TF

SOURCE GeneReport for Unigene cluster for TF Gene:

Hs.518267

mRNA Expression by UniProt/SwissProt for TF Gene:

P02787-TRFE_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for TF Gene

  • Liver(5)
  • Nervous system(5)
  • Eye(4.9)
  • Heart(4.8)
  • Kidney(4.7)
  • Bone marrow(4.5)
  • Saliva(4.3)
  • Blood(4)
  • Intestine(3.8)
  • Lung(3.5)
  • Gall bladder(3.4)
  • Pancreas(3.3)
  • Adrenal gland(3.1)
  • Muscle(2.9)
  • Spleen(2.8)
  • Urine(2.5)
  • Skin(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TF Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • respiratory
Organs:
Head and neck:
  • ear
Thorax:
  • heart
  • lung
Abdomen:
  • liver
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with TF: view

Primer Products

Orthologs for TF Gene

This gene was present in the common ancestor of animals.

Orthologs for TF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TF 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia TF 34 35
  • 80.32 (n)
mouse
(Mus musculus)
Mammalia Trf 34 16 35
  • 78.15 (n)
Gm20425 35
  • 51 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TF 34 35
  • 77.7 (n)
rat
(Rattus norvegicus)
Mammalia Tf 34
  • 77.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 59 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves TF 34 35
  • 60.26 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tf 34
  • 59.25 (n)
zebrafish
(Danio rerio)
Actinopterygii tfa 34 35
  • 53.8 (n)
Dr.28538 34
fruit fly
(Drosophila melanogaster)
Insecta Tsf2 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4617 35
  • 31 (a)
ManyToMany
Species where no ortholog for TF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TF Gene

ENSEMBL:
Gene Tree for TF (if available)
TreeFam:
Gene Tree for TF (if available)

Paralogs for TF Gene

Paralogs for TF Gene

Pseudogenes.org Pseudogenes for TF Gene

genes like me logo Genes that share paralogs with TF: view

Variants for TF Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TF Gene

TRFE_HUMAN-P02787
Different polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1).

Sequence variations from dbSNP and Humsavar for TF Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121918679 Pathogenic, Atransferrinemia (ATRAF) [MIM:209300] 133,766,376(+) GAACC(A/C/G)CTGGC reference, missense
rs121918681 Pathogenic, Atransferrinemia (ATRAF) [MIM:209300] 133,753,607(+) AAGCG(A/G)ATGCT reference, missense
rs121918676 Pathogenic 133,756,969(+) GGGCG(A/G)CAAGG reference, missense
rs121918677 Pathogenic 133,777,188(+) CTTAG(A/G/T)AGAAG reference, missense
rs121918678 Pathogenic 133,777,112(+) AAACC(A/G)AGGAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TF Gene

Variant ID Type Subtype PubMed ID
esv3380897 CNV duplication 20981092
nsv4018 CNV deletion 18451855
nsv829729 CNV loss 17160897

Variation tolerance for TF Gene

Residual Variation Intolerance Score: 50% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TF Gene

Human Gene Mutation Database (HGMD)
TF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TF

Disorders for TF Gene

MalaCards: The human disease database

(84) MalaCards diseases for TF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
atransferrinemia
  • familial hypotransferrinemia
nutritional deficiency disease
  • nutritional deficiency
iron metabolism disease
  • disorder of iron metabolism
hemosiderosis
  • haemosiderosis
congenital hemolytic anemia
  • hereditary hemolytic anemia
- elite association - COSMIC cancer census association via MalaCards
Search TF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRFE_HUMAN
  • Atransferrinemia (ATRAF) [MIM:209300]: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. {ECO:0000269 PubMed:11110675, ECO:0000269 PubMed:15466165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TF Gene

hypotransferrinemia,familial

Relevant External Links for TF

Genetic Association Database (GAD)
TF
Human Genome Epidemiology (HuGE) Navigator
TF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TF
genes like me logo Genes that share disorders with TF: view

Publications for TF Gene

  1. Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. (PMID: 11703331) Lee P.L. … Beutler E. (Br. J. Haematol. 2001) 3 4 46 64
  2. Alternative splicing prevents transferrin secretion during differentiation of a human oligodendrocyte cell line. (PMID: 10931525) de Arriba Zerpa G.A. … Baron B. (J. Neurosci. Res. 2000) 3 4 22 64
  3. Human transferrin: cDNA characterization and chromosomal localization. (PMID: 6585826) Yang F. … Bowman B.H. (Proc. Natl. Acad. Sci. U.S.A. 1984) 2 3 4 64
  4. Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. (PMID: 21785125) Traglia M. … Toniolo D. (J. Med. Genet. 2011) 3 46 64
  5. Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. (PMID: 21665994) Kutalik Z. … Whitfield J.B. (Hum. Mol. Genet. 2011) 3 46 64

Products for TF Gene

  • Addgene plasmids for TF

Sources for TF Gene

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