TF (transferrin)

Gene

• Entrez ID: 7018
• Gene name: Transferrin
• Gene symbol: TF
• Synonyms: HEL-S-71p, PRO1557, PRO2086, TFQTL1
• Chromosome: 3
• Chromosome location: 3q22.1
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1049296	C>G,T	Association, risk-factor, benign	Coding sequence variant, missense variant
rs8177291	T>-	Likely-pathogenic	Intron variant
rs41295774	A>G	Pathogenic, benign, uncertain-significance	Coding sequence variant, missense variant
rs121918676	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918677	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121918678	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918679	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs121918680	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918681	G>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs773139494	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018601	hsa-miR-335-5p	Microarray	18185580
MIRT053165	hsa-miR-19a-3p	Luciferase reporter assay, qRT-PCR, Western blot	23666757

Transcription factors

Transcription factor	Regulation	Reference
DDIT3	Unknown	12939601
NFKB1	Activation	12744731
NFKB1	Unknown	22119392
RELA	Activation	12744731
RELA	Unknown	22119392
SP1	Unknown	8548503
TFCP2	Activation	20796026
YY1	Unknown	8548503

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001895	Process	Retina homeostasis	HEP	23580065
GO:0002576	Process	Platelet degranulation	TAS
GO:0005515	Function	Protein binding	IPI	14691533, 15880641, 16271884, 16354665, 19664057, 20404192, 21788477, 22327295, 22343719, 29302006, 32296183
GO:0005576	Component	Extracellular region	IDA	9990067
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 22664934, 23580065
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005769	Component	Early endosome	IBA	21873635
GO:0005769	Component	Early endosome	IDA	15880641
GO:0005770	Component	Late endosome	IDA	15880641
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005905	Component	Clathrin-coated pit	IDA	12857860
GO:0006826	Process	Iron ion transport	IBA	21873635
GO:0006879	Process	Cellular iron ion homeostasis	TAS
GO:0007015	Process	Actin filament organization	IEA
GO:0007257	Process	Activation of JUN kinase activity	IEA
GO:0008198	Function	Ferrous iron binding	IDA	18353247
GO:0008199	Function	Ferric iron binding	IEA
GO:0009925	Component	Basal plasma membrane	IDA	15880641
GO:0009986	Component	Cell surface	IDA	16195351
GO:0010008	Component	Endosome membrane	TAS
GO:0016324	Component	Apical plasma membrane	IDA	11208127
GO:0019731	Process	Antibacterial humoral response	IBA	21873635
GO:0030139	Component	Endocytic vesicle	IDA	15229288, 15292400
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	TAS
GO:0031232	Component	Extrinsic component of external side of plasma membrane	IGI	18353247
GO:0031410	Component	Cytoplasmic vesicle	IDA	12857860
GO:0031647	Process	Regulation of protein stability	TAS	25635054
GO:0031982	Component	Vesicle	IDA	18353773
GO:0033572	Process	Transferrin transport	TAS
GO:0034756	Process	Regulation of iron ion transport	IGI	18353247
GO:0034774	Component	Secretory granule lumen	TAS
GO:0034986	Function	Iron chaperone activity	IDA	18353247
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045178	Component	Basal part of cell	IDA	15880641
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IDA	12704209
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IGI	18353247
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15880641, 20202662
GO:0055037	Component	Recycling endosome	IBA	21873635
GO:0055037	Component	Recycling endosome	IDA	15880641
GO:0055072	Process	Iron ion homeostasis	IC	18353247
GO:0060395	Process	SMAD protein signal transduction	IEA
GO:0061024	Process	Membrane organization	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0071281	Process	Cellular response to iron ion	IGI	18353247
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1990459	Function	Transferrin receptor binding	IPI	9546397, 18353247, 29388418
GO:1990459	Function	Transferrin receptor binding	TAS	9465039
GO:1990712	Component	HFE-transferrin receptor complex	IDA	9546397
GO:2000147	Process	Positive regulation of cell motility	IEA

Other IDs

• MIM: 190000
• HGNC: 11740
• e!Ensembl: ENSG00000091513

Protein

• UniProt ID: P02787
• Protein name: Serotransferrin (Transferrin) (Beta-1 metal-binding globulin) (Siderophilin)
• Protein 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.; (Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use.
• PDB: 1A8E, 1A8F, 1B3E, 1BP5, 1BTJ, 1D3K, 1D4N, 1DTG, 1FQE, 1FQF, 1JQF, 1N7W, 1N7X, 1N84, 1OQG, 1OQH, 1RYO, 1SUV, 2HAU, 2HAV, 2O7U, 2O84, 3FGS, 3QYT, 3S9L, 3S9M, 3S9N, 3SKP, 3V83, 3V89, 3V8X, 3VE1, 4H0W, 4X1B, 4X1D, 5DYH, 5H52, 5WTD, 5X5P, 5Y6K, 6CTC, 6D03, 6D04, 6D05, 6JAS, 6SOY, 6SOZ, 6UJ6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00405	Transferrin	25 → 347	Transferrin	Domain
  PF00405	Transferrin	361 → 683	Transferrin	Domain

• Sequence:

  MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVK
  KASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVVAEFYGSKEDPQTFYYAVAVV
  KKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPC
  ADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVKHSTIFENLANKADRD
  QYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKE
  FQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKP
  VKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGK
  CGLVPVLAENYNKSDNCEDTPEAGYFAIAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWN
  IPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAF
  RCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLAR
  APNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKL
  HDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP

• Sequence length: 698

Pathways

KEGG:

HIF-1 signaling pathway
Ferroptosis
TGF-beta signaling pathway
Mineral absorption

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hereditary hemochromatosis	Hereditary hemochromatosis	rs1800562, rs111033563, rs944843686, rs80338877, rs80338882, rs80338888, rs80338891, rs80338878, rs146519482, rs786204108, rs749553271, rs765804978, rs773050231, rs1426704853, rs1554154042, rs1220336558, rs-1, rs750609759, rs1562838535, rs1051249273, rs1388444100, rs1584460907, rs946552921, rs768907730, rs1562837669, rs1405776096, rs1803297757, rs749211542, rs1422733588, rs1803411479, rs1762684254	25457201
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs-1, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	15363659
Anemia	Anemia, Microcytic hypochromic anemia (disorder)	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	11110675
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	17178036
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21643746, 18045615, 17496814
Hemochromatosis	HEMOCHROMATOSIS, TYPE 1, HFE-Associated Hereditary Hemochromatosis	rs74315323, rs1422879641, rs80338880, rs80338877, rs80338879, rs80338889, rs104893662, rs28939076, rs104893663, rs104893670, rs878854984, rs104893671, rs104893672, rs104893673, rs104893664, rs387906549, rs80338882, rs80338883, rs80338888, rs80338891, rs80338878, rs387907374, rs387907377, rs786204108, rs-1, rs1057521155, rs1060501101, rs1060501102, rs773050231, rs1553492997, rs1553493234, rs1553493479, rs1553493481, rs1553494286, rs1553495699, rs1423207026, rs1220336558, rs750609759, rs1051249273, rs946552921, rs1449300685, rs768907730, rs1562837669, rs1405776096, rs1803297757, rs1422733588	25457201
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs-1, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	20882379
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	16316942, 9879772
Leukemia	Leukemia, Myelocytic, Acute	rs-1, rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs-1, rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	19381893
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs-1, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	15060098, 17192785
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Congenital atransferrinemia	Congenital atransferrinemia	rs-1, rs121918679, rs121918681, rs773139494	12111369, 11920219, 10660486, 11110675, 1862777, 15466165, 17768112
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470

Unknown
Disease name	Disease term	dbSNP ID	References
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Iron overload	Iron Overload	rs1801390, rs1800008, rs1800009, rs147192139, rs148060787, rs149698, rs111326315, rs368356148, rs17854138, rs112199774, rs1801621, rs886048434, rs17156609, rs201120647, rs186448909, rs141071579, rs886048429, rs763318260, rs142482048	11110675
Anaplastic carcinoma	Anaplastic carcinoma		16316942, 9879772
Cardiovascular abnormalities	Cardiovascular Abnormalities
Fatty liver	Fatty Liver, Steatohepatitis		20008134, 21907177
Hypochromic anemia	Hypochromic anemia
Iron metabolism disorders	Iron Metabolism Disorders		25457201
Kidney failure	Kidney Failure, Acute		28885000
Malignant mesothelioma	Malignant mesothelioma		26818092
Paratuberculosis	Paratuberculosis		22633222
Acute kidney insufficiency	Acute Kidney Insufficiency		28885000
Restless legs syndrome	Restless Legs Syndrome		16930377
Senile dementia	Presenile dementia, Acute Confusional Senile Dementia		17192785, 15060098