ENSG00000091513


Homo sapiens

Features
Gene ID: ENSG00000091513
  
Biological name :TF
  
Synonyms : P02787 / TF / transferrin
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q22.1
Gene start: 133745956
Gene end: 133796640
  
Corresponding Affymetrix probe sets: 203400_s_at (Human Genome U133 Plus 2.0 Array)   214063_s_at (Human Genome U133 Plus 2.0 Array)   214064_at (Human Genome U133 Plus 2.0 Array)   220109_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000418396
Ensembl peptide - ENSP00000418716
Ensembl peptide - ENSP00000419714
Ensembl peptide - ENSP00000419338
Ensembl peptide - ENSP00000385834
Ensembl peptide - ENSP00000401505
Ensembl peptide - ENSP00000417468
NCBI entrez gene - 7018     See in Manteia.
OMIM - 190000
RefSeq - NM_001063
RefSeq - XM_017007089
RefSeq - XM_017007090
RefSeq Peptide - NP_001054
swissprot - F8WEK9
swissprot - C9JVG0
swissprot - P02787
swissprot - H7C5E8
swissprot - C9JB55
swissprot - F8WC57
swissprot - F8WCI6
Ensembl - ENSG00000091513
  
Related genetic diseases (OMIM): 209300 - Atransferrinemia, 209300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tfaENSDARG00000016771Danio rerio
 TFENSGALG00000006453Gallus gallus
 Gm20425ENSMUSG00000090639Mus musculus
 TrfENSMUSG00000032554Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LTF / P02788 / lactotransferrinENSG0000001222361
MELTF / P08582 / melanotransferrinENSG0000016397541


Protein motifs (from Interpro)
Interpro ID Name
 IPR001156  Transferrin-like domain
 IPR016357  Transferrin
 IPR018195  Transferrin family, iron binding site
 IPR029785  Inhibitor of carbonic anhydrase
 IPR030685  Serotransferrin, mammalian


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis HEP
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006826 iron ion transport IEA
 biological_processGO:0006879 cellular iron ion homeostasis TAS
 biological_processGO:0031647 regulation of protein stability TAS
 biological_processGO:0033572 transferrin transport TAS
 biological_processGO:0043086 negative regulation of catalytic activity IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis IGI
 biological_processGO:0055072 iron ion homeostasis IC
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0071281 cellular response to iron ion IGI
 biological_processGO:1900390 regulation of iron ion import IGI
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005770 late endosome IDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005905 clathrin-coated pit IDA
 cellular_componentGO:0009925 basal plasma membrane IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0030139 endocytic vesicle IDA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 cellular_componentGO:0031232 extrinsic component of external side of plasma membrane IGI
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0031982 vesicle IDA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0045178 basal part of cell IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0055037 recycling endosome IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 cellular_componentGO:1990712 HFE-transferrin receptor complex IDA
 molecular_functionGO:0004857 enzyme inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008198 ferrous iron binding IDA
 molecular_functionGO:0008199 ferric iron binding IEA
 molecular_functionGO:0015091 ferric iron transmembrane transporter activity IEA
 molecular_functionGO:0034986 iron chaperone activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:1990459 transferrin receptor binding TAS


Pathways (from Reactome)
Pathway description
Platelet degranulation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Post-translational protein phosphorylation
Iron uptake and transport
Transferrin endocytosis and recycling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000821 Hypothyroidism 
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 HP:0001369 Arthritis 
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 HP:0001392 Abnormality of the liver 
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 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001732 Abnormality of the pancreas 
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 HP:0001903 Anemia 
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 HP:0001931 Hypochromic anemia 
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 HP:0002719 Recurrent infections 
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 HP:0012239 Atransferrinemia "Absence of transferrin, a protein that transprot iron, in the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072274 TFRC / P02786 / transferrin receptor  / complex / reaction
 ENSG00000106327 TFR2 / Q9UP52 / transferrin receptor 2  / reaction / complex
 ENSG00000091513 TF / P02787 / transferrin  / complex / reaction






 

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