Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 7018
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (101130680: 101029623)     Exons: 9     NC_000011.10
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 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]
OMIM 190000

Protein Summary
Protein general information P02787  

Name: Serotransferrin (Transferrin) (Beta 1 metal binding globulin) (Siderophilin)

Length: 698  Mass: 77,064

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

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

Pfam:  		 PF00405

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
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

DIP:  		 2738
MINT:   1400694
STRING:   ENSP00000385834;
Other Databases GeneCards:  TF;  Malacards:  TF

Gene ontology


GO accessionTerm nameEvidence codeGo 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 homeost
asis
 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 ex
ternal side of plasma mem
brane
 IGI cellular_component
GO:0031647 regulation of protein sta
bility
 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 re
ceptor-mediated endocytos
is
 IDA biological_process
GO:0048260 positive regulation of re
ceptor-mediated endocytos
is
 IGI biological_process
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
 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 bind
ing
 IPI molecular_function
GO:1990459 transferrin receptor bind
ing
 IPI molecular_function
GO:1990459 transferrin receptor bind
ing
 TAS molecular_function
GO:1990459 transferrin receptor bind
ing
 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 homeost
asis
 IEA biological_process
GO:0006879 cellular iron ion homeost
asis
 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 ex
ternal side of plasma mem
brane
 IGI cellular_component
GO:0031647 regulation of protein sta
bility
 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 re
ceptor-mediated endocytos
is
 IDA biological_process
GO:0048260 positive regulation of re
ceptor-mediated endocytos
is
 IGI biological_process
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
 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 bind
ing
 IPI molecular_function
GO:1990459 transferrin receptor bind
ing
 IPI molecular_function
GO:1990459 transferrin receptor bind
ing
 TAS molecular_function
GO:1990459 transferrin receptor bind
ing
 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 homeost
asis
 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 ex
ternal side of plasma mem
brane
 IGI cellular_component
GO:0031647 regulation of protein sta
bility
 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 re
ceptor-mediated endocytos
is
 IDA biological_process
GO:0048260 positive regulation of re
ceptor-mediated endocytos
is
 IGI biological_process
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
 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 bind
ing
 IPI molecular_function
GO:1990459 transferrin receptor bind
ing
 IPI molecular_function
GO:1990459 transferrin receptor bind
ing
 TAS molecular_function
GO:1990459 transferrin receptor bind
ing
 IPI molecular_function
GO:1990712 HFE-transferrin receptor
complex
 IDA cellular_component

KEGG pathways

hsa04066  HIF-1 signaling pathway
hsa04216  Ferroptosis
hsa04978  Mineral absorption
PTHR20859:SF22  Angiogenesis
PTHR20859:SF22  Angiogenesis

Diseases

Associated diseases References
Alzheimer's disease PMID: 15648851
Anemia PMID: 17206377
Atransferrinemia KEGG: H01145, OMIM: 190000
Azoospermia PMID: 8089907
Azoospermia PMID: 1986964
Endometrial cancer PMID: 19766980
Endometriosis PMID: 9102363
Follicular development PMID: 25595538
Male infertility PMID: 18395717
Endometriosis associated infertility INFBASE19263878
Uterine leiomyomata INFBASE8738720
Endometriosis INFBASE8738720
Myocardial infarction PMID: 17008590
Oligozoospermia PMID: 1986964
Polycystic ovary syndrome (PCOS) PMID: 22935150
Polyzoospermia PMID: 1986964
Schizophrenia PMID: 18045615
Seminiferous tubular function PMID: 3917951
Sertoli cell-only syndrome (SCOS) PMID: 3082837
Varicocele PMID: 2906919

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
9102363 Endometrio
sis

AMY1
AMY2
ACP1
PGM1
SOD-A
ESD
GLO1
C3
TF
PGM1
 Show abstract
9102363 Endometrio
sis

AMY1
AMY2
ACP1
PGM1
SOD-A
ESD
GLO1
C3
TF
PGM1
 Show abstract
10433073 Endometrio
sis
Women with endo
metriosis (n =
24-60), women w
ithout endometr
iosis (n = 35-4
9)
 alpha 2-HS glycoprotein
transferrin
 Show abstract
9764347 Endometrio
sis
228 (105 normal
women, 123 pat
ients with acti
ve endometriosi
s)
 Transferrin
alpha 2-HS glycoprotein
 Show abstract
8738720 Endometrio
sis
103 (46 women w
ith endometrios
is, 4 women wit
h uterine leiom
yomata, 4 with
pelvic adhesion
s, 3 with repea
t Cesarean sect
ions (condition
s that coexist
with or predisp
ose to endometr
iosis), 46 cont
rols)
 alpha 2-HS-glycoprotein
transferrin
 Show abstract
19263878 Endometrio
sis
52 (26 fertile
women, 26 infer
tile ones)
 Female infertility TF
C3serum amyloid P-component
alpha-1-antitrypsin and clusterin
 Show abstract