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Protein

Transforming growth factor beta-3

Gene

TGFB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in embryogenesis and cell differentiation.

GO - Molecular functioni

  • cytokine activity Source: GO_Central
  • growth factor activity Source: UniProtKB-KW
  • identical protein binding Source: BHF-UCL
  • protein heterodimerization activity Source: Ensembl
  • transforming growth factor beta binding Source: BHF-UCL
  • type III transforming growth factor beta receptor binding Source: AgBase
  • type II transforming growth factor beta receptor binding Source: BHF-UCL
  • type I transforming growth factor beta receptor binding Source: BHF-UCL

GO - Biological processi

  • activation of MAPK activity Source: Ensembl
  • aging Source: Ensembl
  • BMP signaling pathway Source: GO_Central
  • cell-cell junction organization Source: BHF-UCL
  • cell development Source: GO_Central
  • detection of hypoxia Source: BHF-UCL
  • digestive tract development Source: Ensembl
  • embryonic neurocranium morphogenesis Source: Ensembl
  • face morphogenesis Source: BHF-UCL
  • female pregnancy Source: Ensembl
  • frontal suture morphogenesis Source: Ensembl
  • inner ear development Source: Ensembl
  • in utero embryonic development Source: BHF-UCL
  • lung alveolus development Source: BHF-UCL
  • mammary gland development Source: BHF-UCL
  • negative regulation of cell proliferation Source: BHF-UCL
  • negative regulation of macrophage cytokine production Source: DFLAT
  • negative regulation of neuron apoptotic process Source: BHF-UCL
  • negative regulation of transforming growth factor beta receptor signaling pathway Source: Ensembl
  • negative regulation of vascular smooth muscle cell proliferation Source: BHF-UCL
  • odontogenesis Source: BHF-UCL
  • ossification involved in bone remodeling Source: BHF-UCL
  • platelet degranulation Source: Reactome
  • positive regulation of apoptotic process Source: BHF-UCL
  • positive regulation of bone mineralization Source: BHF-UCL
  • positive regulation of cell division Source: UniProtKB-KW
  • positive regulation of cell proliferation Source: BHF-UCL
  • positive regulation of collagen biosynthetic process Source: BHF-UCL
  • positive regulation of epithelial to mesenchymal transition Source: BHF-UCL
  • positive regulation of filopodium assembly Source: BHF-UCL
  • positive regulation of occluding junction disassembly Source: BHF-UCL
  • positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  • positive regulation of protein secretion Source: BHF-UCL
  • positive regulation of SMAD protein signal transduction Source: BHF-UCL
  • positive regulation of stress fiber assembly Source: BHF-UCL
  • positive regulation of transcription, DNA-templated Source: BHF-UCL
  • positive regulation of transcription by RNA polymerase II Source: BHF-UCL
  • regulation of apoptotic process Source: GO_Central
  • regulation of MAPK cascade Source: GO_Central
  • response to estrogen Source: Ensembl
  • response to hypoxia Source: BHF-UCL
  • response to laminar fluid shear stress Source: Ensembl
  • response to progesterone Source: BHF-UCL
  • salivary gland morphogenesis Source: BHF-UCL
  • secondary palate development Source: BHF-UCL
  • SMAD protein signal transduction Source: GO_Central
  • transforming growth factor beta receptor signaling pathway Source: BHF-UCL
  • uterine wall breakdown Source: BHF-UCL
  • wound healing Source: Ensembl

Keywordsi

Molecular functionGrowth factor, Mitogen

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-3000178 ECM proteoglycans
SignaLinkiP10600
SIGNORiP10600

Names & Taxonomyi

Protein namesi
Recommended name:
Transforming growth factor beta-3
Short name:
TGF-beta-3
Cleaved into the following chain:
Gene namesi
Name:TGFB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000119699.7
HGNCiHGNC:11769 TGFB3
MIMi190230 gene
neXtProtiNX_P10600

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
See also OMIM:107970
Loeys-Dietz syndrome 5 (LDS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection.
See also OMIM:615582
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070924409C → Y in LDS5; hypomorphic mutation; results in impaired TGF-beta signaling. 1 PublicationCorresponds to variant dbSNP:rs398122984EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi7043
GeneReviewsiTGFB3
MalaCardsiTGFB3
MIMi107970 phenotype
615582 phenotype
OpenTargetsiENSG00000119699
Orphaneti293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
PharmGKBiPA36483

Chemistry databases

ChEMBLiCHEMBL3712903

Polymorphism and mutation databases

BioMutaiTGFB3
DMDMi135684

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000003379624 – 300Latency-associated peptideAdd BLAST277
ChainiPRO_0000033797301 – 412Transforming growth factor beta-3Add BLAST112

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi74N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi142N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi307 ↔ 316
Disulfide bondi315 ↔ 378
Disulfide bondi344 ↔ 409
Disulfide bondi348 ↔ 411
Disulfide bondi377InterchainBy similarity

Post-translational modificationi

The precursor is cleaved into mature TGF-beta-3 and LAP, which remains non-covalently linked to mature TGF-beta-3 rendering it inactive.By similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP10600
PeptideAtlasiP10600
PRIDEiP10600
ProteomicsDBi52617

PTM databases

iPTMnetiP10600
PhosphoSitePlusiP10600

Miscellaneous databases

PMAP-CutDBiP10600

Expressioni

Gene expression databases

BgeeiENSG00000119699
CleanExiHS_TGFB3
ExpressionAtlasiP10600 baseline and differential
GenevisibleiP10600 HS

Organism-specific databases

HPAiHPA063582

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Interacts with ASPN.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • cytokine activity Source: GO_Central
  • growth factor activity Source: UniProtKB-KW
  • identical protein binding Source: BHF-UCL
  • protein heterodimerization activity Source: Ensembl
  • transforming growth factor beta binding Source: BHF-UCL
  • type III transforming growth factor beta receptor binding Source: AgBase
  • type II transforming growth factor beta receptor binding Source: BHF-UCL
  • type I transforming growth factor beta receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi112901, 7 interactors
ComplexPortaliCPX-2544 TGF-beta-3-TGFR complex
CPX-606 TGF-beta-3 complex
CORUMiP10600
DIPiDIP-5937N
IntActiP10600, 7 interactors
MINTiP10600
STRINGi9606.ENSP00000238682

Structurei

Secondary structure

1412
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi265 – 268Combined sources4
Helixi304 – 309Combined sources6
Beta strandi314 – 318Combined sources5
Beta strandi321 – 323Combined sources3
Helixi324 – 328Combined sources5
Beta strandi333 – 335Combined sources3
Beta strandi337 – 340Combined sources4
Beta strandi343 – 346Combined sources4
Turni350 – 353Combined sources4
Helixi357 – 368Combined sources12
Helixi370 – 372Combined sources3
Beta strandi377 – 380Combined sources4
Beta strandi382 – 392Combined sources11
Beta strandi395 – 406Combined sources12
Beta strandi408 – 412Combined sources5

3D structure databases

ProteinModelPortaliP10600
SMRiP10600
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP10600

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi261 – 263Cell attachment siteSequence analysis3

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00910000143982
HOGENOMiHOG000290198
HOVERGENiHBG074115
InParanoidiP10600
KOiK13377
OMAiPEPSVMT
OrthoDBiEOG091G0BMM
PhylomeDBiP10600
TreeFamiTF351793

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR016319 TGF-beta
IPR015615 TGF-beta-rel
IPR015618 TGFB3
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 1 hit
PF00688 TGFb_propeptide, 1 hit
PIRSFiPIRSF001787 TGF-beta, 1 hit
PRINTSiPR01423 TGFBETA
PR01426 TGFBETA3
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P10600-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKMHLQRALV VLALLNFATV SLSLSTCTTL DFGHIKKKRV EAIRGQILSK
60 70 80 90 100
LRLTSPPEPT VMTHVPYQVL ALYNSTRELL EEMHGEREEG CTQENTESEY
110 120 130 140 150
YAKEIHKFDM IQGLAEHNEL AVCPKGITSK VFRFNVSSVE KNRTNLFRAE
160 170 180 190 200
FRVLRVPNPS SKRNEQRIEL FQILRPDEHI AKQRYIGGKN LPTRGTAEWL
210 220 230 240 250
SFDVTDTVRE WLLRRESNLG LEISIHCPCH TFQPNGDILE NIHEVMEIKF
260 270 280 290 300
KGVDNEDDHG RGDLGRLKKQ KDHHNPHLIL MMIPPHRLDN PGQGGQRKKR
310 320 330 340 350
ALDTNYCFRN LEENCCVRPL YIDFRQDLGW KWVHEPKGYY ANFCSGPCPY
360 370 380 390 400
LRSADTTHST VLGLYNTLNP EASASPCCVP QDLEPLTILY YVGRTPKVEQ
410
LSNMVVKSCK CS
Length:412
Mass (Da):47,328
Last modified:July 1, 1989 - v1
Checksum:i3CAD3548D3AEA178
GO
Isoform 2 (identifier: P10600-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-412: Missing.

Note: No experimental confirmation available.
Show »
Length:309
Mass (Da):35,708
Checksum:i30F7A936E9467729
GO

Sequence cautioni

The sequence CAA33024 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01631560T → M1 PublicationCorresponds to variant dbSNP:rs4252315EnsemblClinVar.1
Natural variantiVAR_070924409C → Y in LDS5; hypomorphic mutation; results in impaired TGF-beta signaling. 1 PublicationCorresponds to variant dbSNP:rs398122984EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056285310 – 412Missing in isoform 2. 2 PublicationsAdd BLAST103

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03241 mRNA Translation: AAA61161.1
X14149 mRNA Translation: CAA32362.1
X14885
, X14886, X14887, X14888, X14889, X14890, X14891 Genomic DNA Translation: CAA33024.1 Different initiation.
AY140241 Genomic DNA Translation: AAM96819.1
AY208161 Genomic DNA Translation: AAO13495.1
BT007287 mRNA Translation: AAP35951.1
AF107885 Genomic DNA Translation: AAC79727.1
BC018503 mRNA Translation: AAH18503.1
CCDSiCCDS9846.1 [P10600-1]
PIRiA36169
RefSeqiNP_001316867.1, NM_001329938.1 [P10600-2]
NP_001316868.1, NM_001329939.1 [P10600-1]
NP_003230.1, NM_003239.4 [P10600-1]
UniGeneiHs.592317
Hs.713281
Hs.736373

Genome annotation databases

EnsembliENST00000238682; ENSP00000238682; ENSG00000119699 [P10600-1]
ENST00000556285; ENSP00000451110; ENSG00000119699 [P10600-2]
GeneIDi7043
KEGGihsa:7043
UCSCiuc001xsc.3 human [P10600-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTGFB3_HUMAN
AccessioniPrimary (citable) accession number: P10600
Secondary accession number(s): Q8WV88
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 1, 1989
Last modified: July 18, 2018
This is version 204 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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