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Gene id 7040
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol TGFB1   Gene   UCSC   Ensembl
Aliases CED, DPD1, LAP, TGFB, TGFbeta
Gene name transforming growth factor beta 1
Alternate names transforming growth factor beta-1, TGF-beta-1, latency-associated peptide, prepro-transforming growth factor beta-1,
Gene location 19q13.2 (41353882: 41330322)     Exons: 7     NC_000019.10
Gene summary(Entrez) This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
OMIM 190180

SNPs


rs1982073

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.41353016G>A
NC_000019.10   g.41353016G>C
NC_000019.9   g.41858921G>A
NC_000019.9   g.41858921G>C
NG_013364.1   g.5911C>T
NG_013364.1   g.5911C>G
NM_000660.7   c.29C>T
NM_000660.7   c.29C>G
NM_000660.6   c.29C>T
NM_000660.6   c.29C>G
NM_000660.4   c.29C>T
  

rs1800471

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.41352971C>G
NC_000019.10   g.41352971C>T
NC_000019.9   g.41858876C>G
NC_000019.9   g.41858876C>T
NG_013364.1   g.5956G>C
NG_013364.1   g.5956G>A
NM_000660.7   c.74G>C
NM_000660.7   c.74G>A
NM_000660.6   c.74G>C
NM_000660.6   c.74G>A
NM_000660.4   c.74G>C
  

Protein Summary

Protein general information P01137  

Name: Transforming growth factor beta 1 (TGF beta 1) [Cleaved into: Latency associated peptide (LAP)]

Length: 390  Mass: 44,341

Sequence MPPSGLRLLLLLLPLLWLLVLTPGRPAAGLSTCKTIDMELVKRKRIEAIRGQILSKLRLASPPSQGEVPPGPLPE
AVLALYNSTRDRVAGESAEPEPEPEADYYAKEVTRVLMVETHNEIYDKFKQSTHSIYMFFNTSELREAVPEPVLL
SRAELRLLRLKLKVEQHVELYQKYSNNSWRYLSNRLLAPSDSPEWLSFDVTGVVRQWLSRGGEIEGFRLSAHCSC
DSRDNTLQVDINGFTTGRRGDLATIHGMNRPFLLLMATPLERAQHLQSSRHRRALDTNYCFSSTEKNCCVRQLYI
DFRKDLGWKWIHEPKGYHANFCLGPCPYIWSLDTQYSKVLALYNQHNPGASAAPCCVPQALEPLPIVYYVGRKPK
VEQLSNMIVRSCKCS
Structural information
Interpro:  IPR029034  IPR001839  IPR001111  IPR016319  IPR015615  
IPR003939  IPR017948  
Prosite:   PS00250 PS51362

PDB:  
1KLA 1KLC 1KLD 3KFD 4KV5 5FFO 5VQP
PDBsum:   1KLA 1KLC 1KLD 3KFD 4KV5 5FFO 5VQP

DIP:  

5934

MINT:  
STRING:   ENSP00000221930
Other Databases GeneCards:  TGFB1  Malacards:  TGFB1

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa04068FoxO signaling pathway
hsa04060Cytokine-cytokine receptor interaction
hsa04110Cell cycle
hsa04218Cellular senescence
hsa04659Th17 cell differentiation
hsa04672Intestinal immune network for IgA production
hsa04926Relaxin signaling pathway
hsa04380Osteoclast differentiation
hsa05200Pathways in cancer
hsa05205Proteoglycans in cancer
hsa05210Colorectal cancer
hsa05212Pancreatic cancer
hsa05225Hepatocellular carcinoma
hsa05226Gastric cancer
hsa05220Chronic myeloid leukemia
hsa05211Renal cell carcinoma
hsa05323Rheumatoid arthritis
hsa05321Inflammatory bowel disease
hsa05410Hypertrophic cardiomyopathy
hsa05414Dilated cardiomyopathy
hsa04932Non-alcoholic fatty liver disease
hsa04933AGE-RAGE signaling pathway in diabetic complications
hsa05152Tuberculosis
hsa05166Human T-cell leukemia virus 1 infection
hsa05161Hepatitis B
hsa05146Amoebiasis
hsa05144Malaria
hsa05145Toxoplasmosis
hsa05140Leishmaniasis
hsa05142Chagas disease
Associated diseases References
Anemia GAD: 15860935
Cancer (cervical) GAD: 18337305
Cancer (colorectal) GAD: 12202987
Cancer (epithelial ovarian) GAD: 19064572
Cancer (esophageal) GAD: 19339270
Cancer (gestational trophoblastic neoplasms) GAD: 20506678
Cancer (glaucoma) GAD: 17570736
Cancer (Hepatocellular) GAD: 19169878
Cancer (kidney) GAD: 15784411
Cancer (leukemia) GAD: 15932621
Cancer (liver) GAD: 15763337
Cancer (lung) GAD: 18676680
Cancer (lymphoma) GAD: 20207982
Cancer (melanoma) GAD: 14675394
Cancer (meningioma) GAD: 15824172
Cancer (nasopharyngeal) GAD: 20334523
Cancer (ovarian) GAD: 18431743
Cancer (pancreatic) GAD: 21187523
Cancer (prostate) GAD: 15159307
Cancer (Squamous cell) GAD: 19260117
Cancer (stomach) GAD: 16635219
Cancer (testicular) GAD: 17220333
Cancer (breast) GAD: 12036913
Cancer (breast) GAD: 12750287
Cancer GAD: 19963138
Cancer (Adenocarcinoma) GAD: 18484655
Cancer (Adenoma) GAD: 17615257
Cancer (B-Cell lymphomas) GAD: 16524740
Cancer (Biliary tract neoplasms) GAD: 18676870
Cancer (bladder) GAD: 16938461
Abdominal aortic aneurysm GAD: 15944607
Albuminuria GAD: 18821144
Angina pectoris GAD: 19005292
Angiopathy GAD: 16904244
Aortic aneurysm GAD: 15944607
Apoplexy GAD: 21059542
Atherosclerosis GAD: 20485444
Atrial fibrillation GAD: 20356380
Cardiovascular disease GAD: 15189946
Carotid artery diseases GAD: 16804000
Intracranial aneurysm GAD: 19299629
Brain ischemia GAD: 19028820
Hypertension GAD: 12009575
Thrombosis GAD: 16931622
Hemochromatosis GAD: 15941661
Camurati-Engelmann disease KEGG: H00434
Bronchopulmonary dysplasia GAD: 18614962
Cystic fibrosis GAD: 17052957
Polycystic kidney disease GAD: 12572925
Cleft defects GAD: 20544801
Liver disease GAD: 18809335
Liver disease GAD: 11192323
Hyperparathyroidism GAD: 20424473
Graves disease GAD: 19882211
Diabetic nephropathy GAD: 17428349
Corneal diseases GAD: 18615206
Corneal diseases GAD: 14767644
Glaucoma GAD: 17570736
Myopia GAD: 12601022
Retinopathy GAD: 15161830
Exfoliation syndrome GAD: 19182256
Myelodysplastic syndrome GAD: 16400883
Sarcoidosis GAD: 11436536
Thrombocytopenia GAD: 14608199
Mucocutaneous lymph node syndrome GAD: 21048327
Henoch-Schonlein purpura GAD: 15257453
Lymphoproliferative disorders GAD: 16824159
Allergic rhinitis GAD: 15120189
Allergy GAD: 15120189
Alveolitis GAD: 16722148
Ankylosing spondylitis GAD: 12890863
Asthma GAD: 16387590
Asthma GAD: 11810274
Asthma GAD: 11739132
Atopic dermatitis GAD: 11496247
Atopy GAD: 11496247
Autoimmune diseases GAD: 12960355
Inflammation GAD: 17989610
Celiac disease GAD: 16540751
Chronic ulcerative colitis GAD: 11345594
Pancreatitis GAD: 15316224
Sjogren's syndrome GAD: 14872501
Immunodeficiency GAD: 18321307
Ulcerative colitis GAD: 18186562
Rheumatoid arthritis GAD: 12922971
Multiple sclerosis GAD: 16183136
Periodontitis GAD: 18321309
Psoriasis GAD: 17560118
Scleroderma GAD: 20603050
Systemic lupus erythematosus (SLE) GAD: 19173720
Behcet's disease GAD: 18925687
Juvenile arthritis GAD: 15170937
Inflammatory bowel disease GAD: 15842590
Hypersensitivity GAD: 16179826
Diabetes GAD: 16100774
Fatty liver GAD: 19401628
Obesity GAD: 12649573
Metabolism disorders GAD: 14557872
Hypercholesterolemia GAD: 20602615
Osteoarthritis GAD: 19036616
Osteolysis GAD: 19860911
Rheumatoid spondylitis GAD: 15769917
Osteoporosis KEGG: H01593
Bone diseases GAD: 14727154
Rheumatic diseases GAD: 15215809
Rheumatic diseases GAD: 15215809
Multiple system atrophy GAD: 15663966
Alzheimer's disease GAD: 12082048
Amyotrophic lateral sclerosis (ALS) GAD: 18608101
Cirrhosis GAD: 16029542
Otosclerosis GAD: 17588962
Dementia GAD: 16635548
Psychological disorders GAD: 19550366
Chronic renal failure GAD: 21085059
Kidney diseases GAD: 18627514
Abortion GAD: 20587610
Chorioamnionitis GAD: 20452482
Prostatic hyperplasia GAD: 16461080
Preeclampsia GAD: 17653872
Recurrent pregnancy loss (RPL) GAD: 14969768
Preterm birth risk GAD: 17145371
Adenomyosis INFBASE: 14597251
Premature ovarian insufficiency (POI) INFBASE: 22342295
Endometriosis INFBASE: 11327093
Female infertility INFBASE: 19626999
Fimbriae tubes with adhesions and atresias INFBASE: 19626999
Recurrent empty follicle syndrome INFBASE: 17007665
Recurrent implantation failure (RIF) INFBASE: 22201617
External gential endometriosis INFBASE: 16027877
Reproductive disorderes INFBASE: 12607776
Endometriosis INFBASE: 16144297
Endometrial receptivity INFBASE: 11554692
Leiomyoma INFBASE: 14597251
Preeclampsia INFBASE: 19474289
Polycystic ovary syndrome (PCOS) INFBASE: 23627969
Unexplained infertility INFBASE: 24368037
Turners syndrome INFBASE: 22342295
Spontaneous abortion INFBASE: 15938776
Andrological diseases MIK: 9570740
Asthenozoospermia MIK: 17341438
Congenital absence of the vas deferens (CAVD) MIK: 24958810
Leydig cell dysfunction MIK: 21126344
Male factor infertility MIK: 26648778
Sertoli cell only syndrome (SCOS) MIK: 21126344
Oligozoospermia MIK: 17341438
Hypospermatogenesis MIK: 21126344
Male factor infertility MIK: 4003767
Activity of spermatic density MIK: 4003767
Azoospermia of primary testicular failure MIK: 9570740
Chronic lung disease GAD: 12944979
Chronic obstructive pulmonary disease (COPD) GAD: 18550614
Fibrotic lung disease GAD: 9808485
Interstitial lung diseases GAD: 19117745
Pulmonary fibrosis GAD: 12746254
Pulmonary fibrosis GAD: 15030461
Wegener granulomatosis GAD: 11715070
Respiratory hypersensitivity GAD: 17071067
Rhinitis GAD: 21055322
Keloids GAD: 15009106
Systemic sclerosis GAD: 12858451
Pemphigus vulgaris GAD: 15650893
Urticaria GAD: 17237561
Dupuytren's disease GAD: 11924651
Connective tissue diseases GAD: 19527514
Periodontal disease GAD: 16824504
Gingival overgrowth GAD: 16671880
Alpha 1-antitrypsin deficiency GAD: 17690329
Angioedema GAD: 19138248
Anoxia GAD: 19017876
Arthritis GAD: 15361128
Atrophy GAD: 19317620
Childhood idiopathic thrombocytopenic purpura GAD: 14608199
Chronic idiopathic neutropenia GAD: 19614955
Duodenal ulcer GAD: 17376051
Emphysema GAD: 20233420
Subcutaneous fibrosis GAD: 16966185
Prevalent vertebral fractures GAD: 10974189
Hypodontia GAD: 15529502
Bronchiolitis GAD: 12451269
Renal insufficiency GAD: 18582803
Nephropathy GAD: 15593052
Uterine diseases GAD: 17766609
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Activity of spermatic density MIK: 4003767
Azoospermia of primary testicular failure MIK: 9570740
Oligozoospermia MIK: 9570740
Congenital absence of the vas deferens MIK: 24958810
Cryptorchidism MIK: 28606200
Leydig cell hyperplasia MIK: 21126344
Male infertility MIK: 22771312
Asthenozoospermia MIK: 17341438
Sertoli cell-only Syndrome (SCOS) MIK: 21126344
Hypospermatogenesis MIK: 21126344
Leydig cell hyperplasia (LCH) MIK: 21126344
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26648778 Male infer
tility

82 (27 healthy
controls, 55 in
fertile patient
s (22 patients
with varicocele
, 13 with idiop
athic infertili
ty) )
Male infertility IL-1?
IL-10
IL-18
TGF-?1
IFN-g
IL-6
Show abstract
17341438 Oligozoosp
ermia, ast
henozoospe
rmia

62 (34 controls
, 28 men with o
ligozoospermia
or asthenozoosp
ermia)
Male infertility IL-6
IL-8
VEGF
TNFalpha
IL-1beta
TGFbeta1 and G-CSF
Show abstract
21126344 Leydig cel
l hyperpla
sia


Male infertility TGF-?1
TGFBRII
TGFBRI (ALK-1 and ALK-5)
Endoglin
Show abstract
10357971 Male infer
tility

63 (23 normal s
ubjects, 40 inf
ertile patients
)
Male infertility
Show abstract
9570740 Andrologic
al disease
s, azoospe
rmia of pr
imary test
icular fai
lure, olig
ozoospermi
a

46 (28 oligozoo
spermic, 18 azo
ospermia of pri
mary testicular
failure)
Male infertility
Show abstract
24958810 Congenital
absence o
f the vas
deferens
p.Phe508del, p.Arg117His, IVS8-T5 allele Indian
60 consecutive
infertile males
with a diagnos
is of CAVD
Male infertility
Show abstract
22771312 Male infer
tility


Male infertility TGF-?1
MYC
MYCN
and TP53
Show abstract
10357971 Male infer
tility

63 (23 normal s
ubjects, 40 inf
ertile patients
)
Male infertility TGFbeta
Show abstract
4003767 Activity o
f , sperma
tic densit
y

119 males under
going fertility
check-up
Male infertility LAP
Show abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
31037746 Spermatoge
nic defect
s

16 (1 control,
15 cases)
Male infertility GSE6023 analyzed using GEO2R
Show abstract