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SMAD3 (SMAD family member 3)

Gene

4088

SMAD family member 3

SMAD3

HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3

15q22.33

The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene `mothers against decapentaplegic` (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, Nov 2019]

Show/Hide all(77)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139616052	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs201263330	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs201912204	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Upstream transcript variant, intron variant, genic upstream transcript variant
rs202094530	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs387906850	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387906851	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906852	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906853	G>A,T	Risk-factor, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs387906854	C>T	Uncertain-significance, pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs387906855	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs387906856	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs587776880	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776881	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776882	G>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs587782977	G>A	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant
rs730880214	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880215	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs745672741	G>A,C	Pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs753486471	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs753875974	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs757106110	C>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs768713596	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, upstream transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs770098673	G>C,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs776577220	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs794727798	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs863223737	G>A,C	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs863223738	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs863223740	G>A	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs863223741	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs863223750	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs863223754	->C	Pathogenic	Frameshift variant, coding sequence variant
rs863223757	AG>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs863223759	C>-	Pathogenic	Intron variant, upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs863223761	T>C	Likely-pathogenic	Splice donor variant
rs863223762	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs863223768	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863223770	->A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs863223771	C>-	Pathogenic	Intron variant, upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs886038770	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886038836	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886039177	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs958007552	C>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, 5 prime UTR variant
rs1057518977	G>T	Likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, missense variant, upstream transcript variant, coding sequence variant
rs1060500770	G>-,GGG	Pathogenic	Coding sequence variant, frameshift variant
rs1060500771	G>T	Likely-pathogenic	Splice donor variant
rs1060500773	CACAC>-	Pathogenic	Intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1064794789	G>-	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1320208623	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555405108	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555412069	->G	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1555412070	->GC	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1555412294	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1555412629	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555413562	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555414236	->TGTCTACCAGTTG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555414495	TCCTCACCCAGATGGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555414503	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1566991387	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1566999423	->GACA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566999458	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1566999601	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566999610	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566999621	AGCTGACACGGAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567002059	TAACCAGCGCTAT>GACACC	Pathogenic	Coding sequence variant, frameshift variant
rs1567002115	G>T	Pathogenic	Coding sequence variant, stop gained
rs1595941653	->GCC	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, inframe insertion, upstream transcript variant
rs1595941823	GC>CT	Likely-pathogenic	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs1595941909	C>-	Likely-pathogenic	Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant
rs1595942351	C>-	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595956416	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595956538	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595956573	->CAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595956832	G>A	Pathogenic	Splice donor variant
rs1595960347	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595960447	C>T	Pathogenic	Coding sequence variant, stop gained
rs1595962708	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1595965925	TG>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007291	hsa-miR-200a-3p	Luciferase reporter assay	22020340
MIRT007323	hsa-miR-18a-5p	Western blot	23249750
MIRT018567	hsa-miR-335-5p	Microarray	18185580
MIRT020918	hsa-miR-155-5p	Western blot	21036908
MIRT041360	hsa-miR-193b-3p	CLASH	23622248
MIRT041360	hsa-miR-193b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24496888
MIRT050933	hsa-miR-17-5p	CLASH	23622248
MIRT053644	hsa-miR-143-3p	Microarray	22942087
MIRT053650	hsa-miR-145-5p	Microarray	22942087
MIRT053650	hsa-miR-145-5p	Luciferase reporter assay, Western blot, qRT-PCR, ELISA, Immunofluorescence	24873879
MIRT053650	hsa-miR-145-5p	Luciferase reporter assay	23632450
MIRT072699	hsa-miR-3529-3p	PAR-CLIP	20371350
MIRT140820	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT140821	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT140825	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT140827	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT140830	hsa-miR-497-5p	qRT-PCR	27063509
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR, Western blot	27683030
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR, Western blot	26572508
MIRT438275	hsa-miR-491-5p	Luciferase reporter assay, qRT-PCR, Western blot	25196641
MIRT438641	hsa-miR-92b-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23892108
MIRT497691	hsa-miR-4290	PAR-CLIP	22291592
MIRT497692	hsa-miR-18a-3p	PAR-CLIP	22291592
MIRT731257	hsa-miR-323a-3p	Immunoprecipitaion, Luciferase reporter assay, Western blot	26908446
MIRT731257	hsa-miR-323a-3p	qRT-PCR	27059796
MIRT731442	hsa-miR-708-5p	Luciferase reporter assay	26932538
MIRT731517	hsa-miR-199a-5p	Luciferase reporter assay	27038547
MIRT732404	hsa-miR-145-3p	ELISA, Luciferase reporter assay, qRT-PCR	25704091
MIRT732665	hsa-miR-590-5p	Luciferase reporter assay	27054113
MIRT732727	hsa-miR-23a-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	27318087
MIRT732727	hsa-miR-23a-3p	Luciferase reporter assay, Western blot	27601936
MIRT733227	hsa-miR-23b-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26153982
MIRT733535	hsa-miR-424-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27655675
MIRT733893	hsa-miR-29b-1-5p	qRT-PCR, Western blot	27273381

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
ARID1A	Unknown	21900401
TP53	Unknown	21900401
TRIB3	Unknown	21896644
WT1	Activation	20842112
WWTR1	Activation	22470139

Show/Hide all(144)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	8774881
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	14555988
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS
GO:0000785	Component	Chromatin	IDA	21828274
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	9732876
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	18832382, 21947082, 31582430
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21947082
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IC	21828274
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	21947082
GO:0001102	Function	RNA polymerase II activating transcription factor binding	IPI	17251190
GO:0001223	Function	Transcription coactivator binding	IPI	16777850
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	26311719
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	24964035
GO:0001657	Process	Ureteric bud development	IEA
GO:0001666	Process	Response to hypoxia	IMP	12411310
GO:0001701	Process	In utero embryonic development	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001889	Process	Liver development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0002520	Process	Immune system development	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9732876, 10823886, 21947082
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9111321
GO:0005160	Function	Transforming growth factor beta receptor binding	IPI	9311995
GO:0005515	Function	Protein binding	IPI	9865696, 9892009, 10681527, 11274402, 11278756, 11387212, 12154125, 14525983, 14612439, 15084259, 15231748, 15350224, 15588252, 15647271, 15897867, 16007207, 16200078, 17099224, 17292623, 17469184, 17785517, 18548003, 18568018, 18729074, 18832382, 19032343, 19049980, 19122240, 19135
GO:0005518	Function	Collagen binding	IEA
GO:0005634	Component	Nucleus	IDA	9311995, 12446380, 16007207, 21145499, 21947082, 25893292
GO:0005634	Component	Nucleus	IGI	23723426
GO:0005637	Component	Nuclear inner membrane	IDA	15647271
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	21947082
GO:0005737	Component	Cytoplasm	IDA	9311995, 12446380, 21145499, 21947082
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IGI	23723426
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	21947082
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	15107418
GO:0006955	Process	Immune response	IMP	16886151
GO:0007050	Process	Cell cycle arrest	IMP	14555988
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA	21873635
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	9732876, 18548003, 21947082
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS
GO:0007183	Process	SMAD protein complex assembly	IDA	9111321, 10823886
GO:0007492	Process	Endoderm development	IEA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008134	Function	Transcription factor binding	IPI	9732876, 21828274
GO:0008270	Function	Zinc ion binding	IDA	12686552
GO:0009653	Process	Anatomical structure morphogenesis	IBA	21873635
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	21307346
GO:0010694	Process	Positive regulation of alkaline phosphatase activity	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	21307346
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	18505915
GO:0016032	Process	Viral process	IEA
GO:0016202	Process	Regulation of striated muscle tissue development	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IMP	8774881
GO:0017151	Function	DEAD/H-box RNA helicase binding	IPI	18548003
GO:0019901	Function	Protein kinase binding	IPI	12874272
GO:0019902	Function	Phosphatase binding	IPI	16751101
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030308	Process	Negative regulation of cell growth	IDA	8774881
GO:0030325	Process	Adrenal gland development	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	TAS
GO:0030878	Process	Thyroid gland development	IEA
GO:0031053	Process	Primary miRNA processing	TAS	19018011
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	11278251, 19122240
GO:0031962	Function	Mineralocorticoid receptor binding	IPI	12902338
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032909	Process	Regulation of transforming growth factor beta2 production	IMP	12411310
GO:0032916	Process	Positive regulation of transforming growth factor beta3 production	IEA
GO:0032924	Process	Activin receptor signaling pathway	IMP	15150278
GO:0033689	Process	Negative regulation of osteoblast proliferation	IEA
GO:0035259	Function	Glucocorticoid receptor binding	IPI	12902338
GO:0038092	Process	Nodal signaling pathway	IMP	15150278
GO:0042060	Process	Wound healing	TAS	19018011
GO:0042110	Process	T cell activation	IEA
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	NAS	15799969
GO:0042802	Function	Identical protein binding	IPI	18729074, 22045334
GO:0042803	Function	Protein homodimerization activity	IPI	8774881
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043130	Function	Ubiquitin binding	IDA	18794808
GO:0043235	Component	Receptor complex	IMP	8774881
GO:0043425	Function	BHLH transcription factor binding	IPI	21828274
GO:0043565	Function	Sequence-specific DNA binding	IDA	10823886
GO:0045216	Process	Cell-cell junction organization	IMP	18505915
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IDA	27038547
GO:0045599	Process	Negative regulation of fat cell differentiation	IDA	19816956
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	9111321, 9311995, 9732876
GO:0045930	Process	Negative regulation of mitotic cell cycle	IMP	14555988
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	8774881, 18832382
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14555988
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS
GO:0048340	Process	Paraxial mesoderm morphogenesis	IEA
GO:0048589	Process	Developmental growth	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050776	Process	Regulation of immune response	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050927	Process	Positive regulation of positive chemotaxis	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	NAS	15799969
GO:0051098	Process	Regulation of binding	IEA
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IDA	27038547
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0051894	Process	Positive regulation of focal adhesion assembly	IEA
GO:0060039	Process	Pericardium development	IEA
GO:0060290	Process	Transdifferentiation	IEA
GO:0060395	Process	SMAD protein signal transduction	IBA	21873635
GO:0060395	Process	SMAD protein signal transduction	NAS	15799969
GO:0061045	Process	Negative regulation of wound healing	IEA
GO:0061767	Process	Negative regulation of lung blood pressure	IEA
GO:0070306	Process	Lens fiber cell differentiation	IEA
GO:0070410	Function	Co-SMAD binding	IPI	8774881, 9111321, 9311995, 9732876
GO:0070411	Function	I-SMAD binding	IBA	21873635
GO:0070412	Function	R-SMAD binding	IPI	9311995, 20129061
GO:0071141	Component	SMAD protein complex	IDA	18832382, 21947082
GO:0071144	Component	Heteromeric SMAD protein complex	IBA	21873635
GO:0071144	Component	Heteromeric SMAD protein complex	IDA	21828274
GO:0071345	Process	Cellular response to cytokine stimulus	TAS
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	12902338
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IMP	15334054
GO:0097296	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IEA
GO:1901203	Process	Positive regulation of extracellular matrix assembly	IDA	21307346
GO:1902895	Process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IMP	26311719
GO:1903243	Process	Negative regulation of cardiac muscle hypertrophy in response to stress	IEA

MIM	HGNC	e!Ensembl
603109	6769	ENSG00000166949

Protein

UniProt ID

P84022

Protein name

Mothers against decapentaplegic homolog 3 (MAD homolog 3) (Mad3) (Mothers against DPP homolog 3) (hMAD-3) (JV15-2) (SMAD family member 3) (SMAD 3) (Smad3) (hSMAD3)

Protein function

Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.

PDB

1MHD , 1MJS , 1MK2 , 1OZJ , 1U7F , 2LAJ , 2LB2 , 5OD6 , 5ODG , 5XOC , 6ZMN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03165	MH1	31 → 131	MH1 domain	Domain
PF03166	MH2	230 → 401	MH2 domain	Family

Sequence

MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNV
NTKCITIPRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEV
CVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETP
PPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL
NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIG
GEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGF
EAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIR
CSSVS

Sequence length

425

Interactions

View interactions

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