• Gene id: 7018

Gene Summary

• Gene Symbol: TF   Gene   UCSC   Ensembl
• Aliases: HEL-S-71p, PRO1557, PRO2086, TFQTL1
• Gene name: transferrin
• Alternate names: serotransferrin, beta-1 metal-binding globulin, epididymis secretory sperm binding protein Li 71p, siderophilin,
• Gene location: 3q22.1 (133661985: 133779005)     Exons: 24     NC_000003.12
• Gene summary(Entrez): 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 io
• OMIM: 190000

Protein Summary

• Protein general information: P02787  
  • Name: Serotransferrin (Transferrin) (Beta 1 metal binding globulin) (Siderophilin)
  • Length: 698  
  • Mass: 77,064
• Sequence:

  MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVKKASYLDCIRAIAANE
  ADAVTLDAGLVYDAYLAPNNLKPVVAEFYGSKEDPQTFYYAVAVVKKDSGFQMNQLRGKKSCHTGLGRSAGWNIP
  IGLLYCDLPEPRKPLEKAVANFFSGSCAPCADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVK
  HSTIFENLANKADRDQYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKE
  FQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKPVKWCALSHHERLKCD
  EWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGKCGLVPVLAENYNKSDNCEDTPEAGYFAIAV
  VKKSASDLTWDNLKGKKSCHTAVGRTAGWNIPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLC
  EPNNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLAR
  APNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEYV
  KAVGNLRKCSTSSLLEACTFRRP

• Structural information:
  • Protein Domains: Transferrin-like (25-347)
    Transferrin-like (361-683)
  • Interpro: IPR030685  IPR016357  IPR001156  IPR018195  
  • Prosite: PS00205 PS00206 PS00207 PS51408
  • 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 5Y6K
  • PDBsum: 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 5Y6K
  • DIP: 2738
  • STRING: ENSP00000385834
• Other Databases: GeneCards:  TF  Malacards:  TF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001895	retina homeostasis	IEP	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0008199	ferric iron binding	IEA	molecular function
GO:0009925	basal plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0015091	ferric iron transmembrane transporter activity	IEA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0031232	extrinsic component of external side of plasma membrane	IGI	cellular component
GO:0031647	regulation of protein stability	TAS	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0045178	basal part of cell	IDA	cellular component
GO:0048260	positive regulation of receptor-mediated endocytosis	IDA	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IGI	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0055072	iron ion homeostasis	IC	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071281	cellular response to iron ion	IGI	biological process
GO:0072562	blood microparticle	IDA	cellular component
GO:0097460	ferrous iron import into cell	IGI	biological process
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990459	transferrin receptor binding	TAS	molecular function
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0001895	retina homeostasis	IEP	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006826	iron ion transport	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0008199	ferric iron binding	IEA	molecular function
GO:0009925	basal plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0015091	ferric iron transmembrane transporter activity	IEA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0031232	extrinsic component of external side of plasma membrane	IGI	cellular component
GO:0031647	regulation of protein stability	TAS	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0045178	basal part of cell	IDA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0048260	positive regulation of receptor-mediated endocytosis	IDA	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IGI	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0055072	iron ion homeostasis	IC	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071281	cellular response to iron ion	IGI	biological process
GO:0072562	blood microparticle	IDA	cellular component
GO:0097460	ferrous iron import into cell	IGI	biological process
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990459	transferrin receptor binding	TAS	molecular function
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0001895	retina homeostasis	IEP	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0009925	basal plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0031232	extrinsic component of external side of plasma membrane	IGI	cellular component
GO:0031647	regulation of protein stability	TAS	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0045178	basal part of cell	IDA	cellular component
GO:0048260	positive regulation of receptor-mediated endocytosis	IDA	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IGI	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0055072	iron ion homeostasis	IC	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071281	cellular response to iron ion	IGI	biological process
GO:0072562	blood microparticle	IDA	cellular component
GO:0097460	ferrous iron import into cell	IGI	biological process
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990459	transferrin receptor binding	TAS	molecular function
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04066	HIF-1 signaling pathway
hsa04216	Ferroptosis
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Myocardial Infarction	GAD: 17008590
Brain ischemia	GAD: 19572083
Cardiovascular disease	GAD: 17008590
Hemochromatosis	GAD: 19852572
Cystic fibrosis	GAD: 18344013
Anemia	GAD: 11703331
Arthritis	GAD: 20113254
Inflammatory bowel disease	GAD: 19856410
Asthma	GAD: 20150920
Atransferrinemia	KEGG: H01145
Neurodegenerative diseases	GAD: 20164577
Alzheimer's disease	GAD: 17116317
Cirrhosis	GAD: 11436564
Schizophrenia	GAD: 18045615
Abortion	GAD: 20587610
Endometriosis	INFBASE: 9102363
Follicular development	INFBASE: 25595538
Polycystic ovary syndrome (PCOS)	INFBASE: 22935150
Preterm birth risk	INFBASE: 23382852
Obstructive azoospermia	MIK: 8089907
Seminiferous tubule dysfunction	MIK: 3123662
Azoospermia	MIK: 1986964
Impaired sertoli cell function	MIK: 6813148
Male factor infertility	MIK: 1986964
Oligozoospermia	MIK: 1986964
Polyzoospermia	MIK: 1986964
Oligozoospermia	MIK: 2906919
Decreased spermatogenesis	MIK: 6813148
Anoxia	GAD: 20215856
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 1986964
Oligozoospermia	MIK: 1986964
Polyzoospermia	MIK: 1986964
Spermatogenic defects	MIK: 6813148
Impaired Sertoli cell function	MIK: 6813148
Male infertility	MIK: 3403363
Sertoli cell functions	MIK: 3082837
Obstruction in azoospermia	MIK: 8089907
Oligozoospermic men associated with varicocele	MIK: 2906919
Seminiferous tubular dysfunction	MIK: 3084303

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
1986964	Azoospermia, oligozoospermia, polyzoospermia, Male infertility			171 (50 subjects with normal sperm count; 32 with azoospermia; 49 with oligozoospermia; 10 with polyzoospermia; and 31 vasectomized)	Male infertility	transferrin  beta 2-microglobulin and albumin
3130762	Male infertility, azoospermia, Oligozoospermia			313 (287 infertile men, 20 pregnancy-proven fertile men, 6 vasectomized men )	Male infertility	Transferrin
1986964	Azoospermia, Oligozoospermia			171 (50 subjects with normal sperm count; 32 with azoospermia; 49 with oligozoospermia; 10 with polyzoospermia; and 31 vasectomized)	Male infertility	Transferrin beta 2-microglobulin albumin
3403363	Male infertility			60 samples	Male infertility	Transferrin LDH-X
3123662	Seminiferous tubule dysfunction				Male infertility	Transferrin
3084303	Seminiferous tubular dysfunction			158 normospermic, oligospermic, and azoospermic men	Male infertility	Transferrin
3082837	Male infertility, Sertoli cell functions				Male infertility	Transferrin
3917951	Seminiferous tubular function			15 seminiferous tubular damage	Male infertility	Transferrin ceruloplasmin
2906919	Oligozoospermic men associated with varicocele			26 (12 normozoospermic fertile men, 14 oligozoospermic varicocele patients)	Male infertility	Transferrin
6813148	Impaired Sertoli cell function, decreased spermatogenesis				Male infertility	FSH
8089907	Obstruction in azoospermia			25 patients with azoospermia	Male infertility	Transferrin
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R