CleftGeneDB-Search

Gene: Tgfb1

Basic information

Tag	Content
Uniprot ID	P04202
Entrez ID	21803
Genbank protein ID	AAH13738.1; CAA08900.1; AAA40423.1; AAB00138.1;
Genbank nucleotide ID	NM_011577.2
Ensembl protein ID	ENSMUSP00000002678
Ensembl nucleotide ID	ENSMUSG00000002603
Gene name	Transforming growth factor beta-1 proprotein
Gene symbol	Tgfb1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage	E12.5, E14.0, E13.5, E15.0, E14.5, E15.5, E17.5
Data sources	Manually collected
Reference	18343643
Functional description	Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively.
Sequence	MPPSGLRLLP LLLPLPWLLV LTPGRPAAGL STCKTIDMEL VKRKRIEAIR GQILSKLRLA 60 SPPSQGEVPP GPLPEAVLAL YNSTRDRVAG ESADPEPEPE ADYYAKEVTR VLMVDRNNAI 120 YEKTKDISHS IYMFFNTSDI REAVPEPPLL SRAELRLQRL KSSVEQHVEL YQKYSNNSWR 180 YLGNRLLTPT DTPEWLSFDV TGVVRQWLNQ GDGIQGFRFS AHCSCDSKDN KLHVEINGIS 240 PKRRGDLGTI HDMNRPFLLL MATPLERAQH LHSSRHRRAL DTNYCFSSTE KNCCVRQLYI 300 DFRKDLGWKW IHEPKGYHAN FCLGPCPYIW SLDTQYSKVL ALYNQHNPGA SASPCCVPQA 360 LEPLPIVYYV GRKPKVEQLS NMIVRSCKCS

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	TGFB1		F1PI70			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TGF beta	102191364	G9LQW0			Capra hircus	Prediction	More>>
1:1 ortholog	TGFB1	100033900	O19011			Equus caballus	Prediction	More>>
1:1 ortholog	TGFB1	7040	P01137			Homo sapiens	Publication	More>>
1:1 ortholog	Tgfb1	21803	P04202	CPO	E12.5, E14.0, E13.5, E15.0, E14.5, E15.5, E17.5	Mus musculus	Publication	More>>
1:1 ortholog	TGFB1	456060	H2QGE0			Pan troglodytes	Prediction	More>>
1:1 ortholog	TGFB1	397078	P07200			Sus scrofa	Prediction	More>>
1:1 ortholog	Tgfb1	59086	P17246			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TGFB1	p.Arg25Pro	PCR; sequencing	26954016
TGFB1	p.Pro10Leu	PCR; sequencing	26954016

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs233635431	p.Val20Ala	missense variant	-	NC_000073.6:g.25687927T>C	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003823	antigen binding	ISS
GO:0003823	antigen binding	ISO
GO:0005114	type II transforming growth factor beta receptor binding	ISS
GO:0005114	type II transforming growth factor beta receptor binding	ISO
GO:0005114	type II transforming growth factor beta receptor binding	IBA
GO:0005125	cytokine activity	IBA
GO:0005160	transforming growth factor beta receptor binding	TAS
GO:0005160	transforming growth factor beta receptor binding	IPI
GO:0005515	protein binding	ISS
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA
GO:0019899	enzyme binding	ISO
GO:0034713	type I transforming growth factor beta receptor binding	ISS
GO:0034713	type I transforming growth factor beta receptor binding	ISO
GO:0034714	type III transforming growth factor beta receptor binding	ISS
GO:0034714	type III transforming growth factor beta receptor binding	ISO
GO:0034714	type III transforming growth factor beta receptor binding	IBA
GO:0042802	identical protein binding	ISO
GO:0043539	protein serine/threonine kinase activator activity	IDA
GO:0044877	protein-containing complex binding	ISO
GO:0047485	protein N-terminus binding	ISO

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000122	negative regulation of transcription by RNA polymerase II	IGI
GO:0000165	MAPK cascade	ISS
GO:0000165	MAPK cascade	ISO
GO:0001501	skeletal system development	TAS
GO:0001570	vasculogenesis	IMP
GO:0001657	ureteric bud development	IEP
GO:0001666	response to hypoxia	IEA
GO:0001763	morphogenesis of a branching structure	ISO
GO:0001775	cell activation	IDA
GO:0001837	epithelial to mesenchymal transition	ISS
GO:0001837	epithelial to mesenchymal transition	ISO
GO:0001843	neural tube closure	IMP
GO:0001933	negative regulation of protein phosphorylation	ISS
GO:0001933	negative regulation of protein phosphorylation	ISO
GO:0001934	positive regulation of protein phosphorylation	ISS
GO:0001934	positive regulation of protein phosphorylation	ISO
GO:0002028	regulation of sodium ion transport	IDA
GO:0002062	chondrocyte differentiation	ISS
GO:0002062	chondrocyte differentiation	ISO
GO:0002244	hematopoietic progenitor cell differentiation	ISS
GO:0002244	hematopoietic progenitor cell differentiation	ISO
GO:0002362	CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment	TAS
GO:0002460	adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	IDA
GO:0002513	tolerance induction to self antigen	IMP
GO:0003179	heart valve morphogenesis	IMP
GO:0003180	aortic valve morphogenesis	ISO
GO:0003180	aortic valve morphogenesis	IMP
GO:0006468	protein phosphorylation	ISO
GO:0006468	protein phosphorylation	IDA
GO:0006468	protein phosphorylation	IGI
GO:0006611	protein export from nucleus	ISS
GO:0006611	protein export from nucleus	ISO
GO:0006754	ATP biosynthetic process	ISS
GO:0006754	ATP biosynthetic process	ISO
GO:0006796	phosphate-containing compound metabolic process	ISS
GO:0006796	phosphate-containing compound metabolic process	ISO
GO:0006874	cellular calcium ion homeostasis	IMP
GO:0006952	defense response	TAS
GO:0006954	inflammatory response	ISS
GO:0006954	inflammatory response	ISO
GO:0006954	inflammatory response	IMP
GO:0007050	cell cycle arrest	ISS
GO:0007050	cell cycle arrest	ISO
GO:0007093	mitotic cell cycle checkpoint	ISS
GO:0007093	mitotic cell cycle checkpoint	ISO
GO:0007173	epidermal growth factor receptor signaling pathway	ISS
GO:0007173	epidermal growth factor receptor signaling pathway	ISO
GO:0007179	transforming growth factor beta receptor signaling pathway	ISO
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA
GO:0007182	common-partner SMAD protein phosphorylation	ISS
GO:0007182	common-partner SMAD protein phosphorylation	ISO
GO:0007183	SMAD protein complex assembly	ISS
GO:0007183	SMAD protein complex assembly	ISO
GO:0007219	Notch signaling pathway	IDA
GO:0007406	negative regulation of neuroblast proliferation	ISO
GO:0007435	salivary gland morphogenesis	ISS
GO:0007492	endoderm development	IDA
GO:0007507	heart development	IMP
GO:0007519	skeletal muscle tissue development	TAS
GO:0007565	female pregnancy	IEA
GO:0007568	aging	IEA
GO:0008283	cell population proliferation	IDA
GO:0008283	cell population proliferation	TAS
GO:0008284	positive regulation of cell population proliferation	ISO
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0008285	negative regulation of cell population proliferation	ISS
GO:0008285	negative regulation of cell population proliferation	ISO
GO:0008285	negative regulation of cell population proliferation	TAS
GO:0008354	germ cell migration	IDA
GO:0009611	response to wounding	ISS
GO:0009749	response to glucose	IEA
GO:0009817	defense response to fungus, incompatible interaction	ISO
GO:0009887	animal organ morphogenesis	TAS
GO:0010033	response to organic substance	ISO
GO:0010468	regulation of gene expression	IDA
GO:0010628	positive regulation of gene expression	ISO
GO:0010628	positive regulation of gene expression	IDA
GO:0010628	positive regulation of gene expression	IMP
GO:0010629	negative regulation of gene expression	ISO
GO:0010629	negative regulation of gene expression	IMP
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISO
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA
GO:0010763	positive regulation of fibroblast migration	ISS
GO:0010763	positive regulation of fibroblast migration	ISO
GO:0010763	positive regulation of fibroblast migration	IMP
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	ISS
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	ISO
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISO
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0010936	negative regulation of macrophage cytokine production	ISS
GO:0010936	negative regulation of macrophage cytokine production	ISO
GO:0014003	oligodendrocyte development	IMP
GO:0014008	positive regulation of microglia differentiation	IMP
GO:0016202	regulation of striated muscle tissue development	IDA
GO:0016477	cell migration	ISS
GO:0016477	cell migration	ISO
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	ISO
GO:0021915	neural tube development	IMP
GO:0022408	negative regulation of cell-cell adhesion	ISS
GO:0022408	negative regulation of cell-cell adhesion	ISO
GO:0030214	hyaluronan catabolic process	ISS
GO:0030214	hyaluronan catabolic process	ISO
GO:0030217	T cell differentiation	IMP
GO:0030279	negative regulation of ossification	IDA
GO:0030308	negative regulation of cell growth	ISO
GO:0030308	negative regulation of cell growth	IDA
GO:0030316	osteoclast differentiation	IDA
GO:0030316	osteoclast differentiation	IGI
GO:0030335	positive regulation of cell migration	ISS
GO:0030335	positive regulation of cell migration	ISO
GO:0030501	positive regulation of bone mineralization	ISS
GO:0030509	BMP signaling pathway	IBA
GO:0030879	mammary gland development	IDA
GO:0031065	positive regulation of histone deacetylation	IDA
GO:0031100	animal organ regeneration	ISO
GO:0031293	membrane protein intracellular domain proteolysis	ISS
GO:0031293	membrane protein intracellular domain proteolysis	ISO
GO:0031334	positive regulation of protein-containing complex assembly	ISS
GO:0031334	positive regulation of protein-containing complex assembly	ISO
GO:0031536	positive regulation of exit from mitosis	ISO
GO:0031663	lipopolysaccharide-mediated signaling pathway	ISS
GO:0031663	lipopolysaccharide-mediated signaling pathway	ISO
GO:0032270	positive regulation of cellular protein metabolic process	ISS
GO:0032270	positive regulation of cellular protein metabolic process	ISO
GO:0032355	response to estradiol	ISS
GO:0032355	response to estradiol	ISO
GO:0032570	response to progesterone	ISS
GO:0032570	response to progesterone	ISO
GO:0032667	regulation of interleukin-23 production	IDA
GO:0032700	negative regulation of interleukin-17 production	IDA
GO:0032740	positive regulation of interleukin-17 production	ISO
GO:0032740	positive regulation of interleukin-17 production	IDA
GO:0032801	receptor catabolic process	ISS
GO:0032801	receptor catabolic process	ISO
GO:0032829	regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	TAS
GO:0032930	positive regulation of superoxide anion generation	ISS
GO:0032930	positive regulation of superoxide anion generation	ISO
GO:0032943	mononuclear cell proliferation	IMP
GO:0032967	positive regulation of collagen biosynthetic process	ISO
GO:0032967	positive regulation of collagen biosynthetic process	IDA
GO:0033138	positive regulation of peptidyl-serine phosphorylation	ISS
GO:0033138	positive regulation of peptidyl-serine phosphorylation	ISO
GO:0033280	response to vitamin D	IEA
GO:0034616	response to laminar fluid shear stress	IEA
GO:0035066	positive regulation of histone acetylation	IDA
GO:0035307	positive regulation of protein dephosphorylation	ISS
GO:0035307	positive regulation of protein dephosphorylation	ISO
GO:0035902	response to immobilization stress	IEA
GO:0042060	wound healing	ISO
GO:0042110	T cell activation	IMP
GO:0042110	T cell activation	IDA
GO:0042127	regulation of cell population proliferation	IDA
GO:0042127	regulation of cell population proliferation	IBA
GO:0042130	negative regulation of T cell proliferation	IMP
GO:0042306	regulation of protein import into nucleus	IDA
GO:0042307	positive regulation of protein import into nucleus	ISS
GO:0042307	positive regulation of protein import into nucleus	ISO
GO:0042482	positive regulation of odontogenesis	IDA
GO:0042552	myelination	ISO
GO:0043011	myeloid dendritic cell differentiation	IMP
GO:0043029	T cell homeostasis	IMP
GO:0043065	positive regulation of apoptotic process	ISO
GO:0043117	positive regulation of vascular permeability	ISO
GO:0043406	positive regulation of MAP kinase activity	ISS
GO:0043406	positive regulation of MAP kinase activity	ISO
GO:0043491	protein kinase B signaling	ISS
GO:0043491	protein kinase B signaling	ISO
GO:0043536	positive regulation of blood vessel endothelial cell migration	ISS
GO:0043536	positive regulation of blood vessel endothelial cell migration	ISO
GO:0043537	negative regulation of blood vessel endothelial cell migration	ISS
GO:0043537	negative regulation of blood vessel endothelial cell migration	ISO
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	ISS
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	ISO
GO:0043932	ossification involved in bone remodeling	ISS
GO:0045066	regulatory T cell differentiation	IDA
GO:0045066	regulatory T cell differentiation	IMP
GO:0045216	cell-cell junction organization	ISS
GO:0045216	cell-cell junction organization	ISO
GO:0045589	regulation of regulatory T cell differentiation	IGI
GO:0045591	positive regulation of regulatory T cell differentiation	IMP
GO:0045599	negative regulation of fat cell differentiation	ISS
GO:0045599	negative regulation of fat cell differentiation	ISO
GO:0045662	negative regulation of myoblast differentiation	ISS
GO:0045662	negative regulation of myoblast differentiation	ISO
GO:0045786	negative regulation of cell cycle	ISS
GO:0045786	negative regulation of cell cycle	ISO
GO:0045892	negative regulation of transcription, DNA-templated	ISS
GO:0045892	negative regulation of transcription, DNA-templated	ISO
GO:0045893	positive regulation of transcription, DNA-templated	ISO
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045918	negative regulation of cytolysis	ISO
GO:0045930	negative regulation of mitotic cell cycle	ISS
GO:0045930	negative regulation of mitotic cell cycle	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI
GO:0046716	muscle cell cellular homeostasis	IGI
GO:0048146	positive regulation of fibroblast proliferation	IDA
GO:0048298	positive regulation of isotype switching to IgA isotypes	ISS
GO:0048298	positive regulation of isotype switching to IgA isotypes	ISO
GO:0048535	lymph node development	IMP
GO:0048565	digestive tract development	IEA
GO:0048642	negative regulation of skeletal muscle tissue development	ISS
GO:0048642	negative regulation of skeletal muscle tissue development	ISO
GO:0048839	inner ear development	IEA
GO:0050679	positive regulation of epithelial cell proliferation	ISO
GO:0050680	negative regulation of epithelial cell proliferation	ISS
GO:0050680	negative regulation of epithelial cell proliferation	ISO
GO:0050714	positive regulation of protein secretion	ISS
GO:0050714	positive regulation of protein secretion	ISO
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	ISO
GO:0050765	negative regulation of phagocytosis	ISO
GO:0050777	negative regulation of immune response	ISO
GO:0050868	negative regulation of T cell activation	IMP
GO:0050921	positive regulation of chemotaxis	ISS
GO:0050921	positive regulation of chemotaxis	ISO
GO:0051092	positive regulation of NF-kappaB transcription factor activity	ISO
GO:0051098	regulation of binding	IDA
GO:0051101	regulation of DNA binding	IDA
GO:0051152	positive regulation of smooth muscle cell differentiation	ISO
GO:0051280	negative regulation of release of sequestered calcium ion into cytosol	ISO
GO:0051781	positive regulation of cell division	IEA
GO:0051897	positive regulation of protein kinase B signaling	ISS
GO:0051897	positive regulation of protein kinase B signaling	ISO
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP
GO:0060325	face morphogenesis	IEP
GO:0060364	frontal suture morphogenesis	IEA
GO:0060389	pathway-restricted SMAD protein phosphorylation	ISO
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA
GO:0060390	regulation of SMAD protein signal transduction	ISS
GO:0060390	regulation of SMAD protein signal transduction	ISO
GO:0060391	positive regulation of SMAD protein signal transduction	ISS
GO:0060391	positive regulation of SMAD protein signal transduction	ISO
GO:0060395	SMAD protein signal transduction	IBA
GO:0060744	mammary gland branching involved in thelarche	IMP
GO:0060751	branch elongation involved in mammary gland duct branching	IMP
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	IGI
GO:0060965	negative regulation of gene silencing by miRNA	ISO
GO:0061035	regulation of cartilage development	IDA
GO:0061448	connective tissue development	IGI
GO:0070168	negative regulation of biomineral tissue development	ISO
GO:0070168	negative regulation of biomineral tissue development	IMP
GO:0070306	lens fiber cell differentiation	IMP
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISS
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISO
GO:0070723	response to cholesterol	ISS
GO:0070723	response to cholesterol	ISO
GO:0071158	positive regulation of cell cycle arrest	IDA
GO:0071260	cellular response to mechanical stimulus	IEA
GO:0071363	cellular response to growth factor stimulus	IDA
GO:0071407	cellular response to organic cyclic compound	ISS
GO:0071407	cellular response to organic cyclic compound	ISO
GO:0071479	cellular response to ionizing radiation	IEA
GO:0071549	cellular response to dexamethasone stimulus	ISO
GO:0071560	cellular response to transforming growth factor beta stimulus	ISO
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA
GO:0071677	positive regulation of mononuclear cell migration	ISO
GO:0072540	T-helper 17 cell lineage commitment	TAS
GO:0085029	extracellular matrix assembly	ISO
GO:0085029	extracellular matrix assembly	IDA
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISO
GO:0090263	positive regulation of canonical Wnt signaling pathway	ISO
GO:0097191	extrinsic apoptotic signaling pathway	ISS
GO:0097191	extrinsic apoptotic signaling pathway	ISO
GO:0097421	liver regeneration	IEA
GO:1900126	negative regulation of hyaluronan biosynthetic process	ISS
GO:1900126	negative regulation of hyaluronan biosynthetic process	ISO
GO:1900182	positive regulation of protein localization to nucleus	ISO
GO:1900182	positive regulation of protein localization to nucleus	IGI
GO:1901666	positive regulation of NAD+ ADP-ribosyltransferase activity	ISS
GO:1901666	positive regulation of NAD+ ADP-ribosyltransferase activity	ISO
GO:1902074	response to salt	IEA
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	ISO
GO:1903077	negative regulation of protein localization to plasma membrane	ISO
GO:1903799	negative regulation of production of miRNAs involved in gene silencing by miRNA	ISO
GO:1903800	positive regulation of production of miRNAs involved in gene silencing by miRNA	ISO
GO:1903911	positive regulation of receptor clustering	IDA
GO:1905313	transforming growth factor beta receptor signaling pathway involved in heart development	IMP
GO:1990314	cellular response to insulin-like growth factor stimulus	IEA
GO:1990402	embryonic liver development	IMP
GO:2000249	regulation of actin cytoskeleton reorganization	IGI
GO:2000679	positive regulation of transcription regulatory region DNA binding	ISS
GO:2000679	positive regulation of transcription regulatory region DNA binding	ISO
GO:2000727	positive regulation of cardiac muscle cell differentiation	ISO
GO:1905005	regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	ISO
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0005623	cell	IEA
GO:0005634	nucleus	ISS
GO:0005634	nucleus	ISO
GO:0005737	cytoplasm	ISS
GO:0005737	cytoplasm	ISO
GO:0009986	cell surface	ISS
GO:0009986	cell surface	ISO
GO:0030141	secretory granule	ISO
GO:0030424	axon	ISO
GO:0031012	extracellular matrix	IDA
GO:0043025	neuronal cell body	ISO
GO:0062023	collagen-containing extracellular matrix	ISO
GO:0072562	blood microparticle	ISS
GO:0005902	microvillus	ISS
GO:0005902	microvillus	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-109582	Hemostasis	IEA
R-MMU-114608	Platelet degranulation	IEA
R-MMU-1474244	Extracellular matrix organization	IEA
R-MMU-1566948	Elastic fibre formation	IEA
R-MMU-162582	Signal Transduction	IEA
R-MMU-170834	Signaling by TGF-beta Receptor Complex	IEA
R-MMU-202733	Cell surface interactions at the vascular wall	IEA
R-MMU-212436	Generic Transcription Pathway	IEA
R-MMU-2129379	Molecules associated with elastic fibres	IEA
R-MMU-2173788	Downregulation of TGF-beta receptor signaling	IEA
R-MMU-2173789	TGF-beta receptor signaling activates SMADs	IEA
R-MMU-2173791	TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)	IEA
R-MMU-3000170	Syndecan interactions	IEA
R-MMU-3000171	Non-integrin membrane-ECM interactions	IEA
R-MMU-73857	RNA Polymerase II Transcription	IEA
R-MMU-74160	Gene expression (Transcription)	IEA
R-MMU-76002	Platelet activation, signaling and aggregation	IEA
R-MMU-76005	Response to elevated platelet cytosolic Ca2+	IEA
R-MMU-8878159	Transcriptional regulation by RUNX3	IEA
R-MMU-8941855	RUNX3 regulates CDKN1A transcription	IEA
R-MMU-8941858	Regulation of RUNX3 expression and activity	IEA
R-MMU-8951936	RUNX3 regulates p14-ARF	IEA
R-MMU-9006936	Signaling by TGF-beta family members	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0165	Cleavage on pair of basic residues
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0497	Mitogen
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR001839	TGF-b_C
IPR001111	TGF-b_propeptide
IPR016319	TGF-beta
IPR015615	TGF-beta-rel
IPR003939	TGFb1
IPR017948	TGFb_CS

PROSITE

PROSITE ID	PROSITE Term
PS00250	TGF_BETA_1
PS51362	TGF_BETA_2

Pfam

Pfam ID	Pfam Term
PF00019	TGF_beta
PF00688	TGFb_propeptide

Gene: Tgfb1

Basic information

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction