SMAD1 (SMAD family member 1)

Gene

• Entrez ID: 4086
• Gene name: SMAD family member 1
• Gene symbol: SMAD1
• Synonyms (NCBI Gene): BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1
• Chromosome: 4
• Chromosome location: 4q31.21
• Summary: The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene `mothers against decapentaplegic` (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional mo

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001500	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR, Western blot	20427544
MIRT001500	hsa-miR-155-5p	pSILAC	18668040
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	18197755
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	18197755
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	18197755
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	14697198
MIRT002340	hsa-miR-26a-5p	Western blot	20857419
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assay, Western blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assay, Western blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assay, Western blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assay, Western blot	22253433
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	23028144
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	23028144
MIRT001500	hsa-miR-155-5p	Proteomics	18668040
MIRT002340	hsa-miR-26a-5p	Reporter assay	18197755
MIRT031384	hsa-miR-16-5p	Proteomics	18668040
MIRT053377	hsa-miR-205-5p	Luciferase reporter assay, qRT-PCR, Western blot	23800974
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	24047927
MIRT438188	hsa-miR-675-3p	Luciferase reporter assay, qRT-PCR, Western blot	24532688
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	24047927
MIRT438188	hsa-miR-675-3p	Luciferase reporter assay, qRT-PCR, Western blot	24532688
MIRT653382	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT653381	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT653380	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT653379	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT653378	hsa-miR-3117-3p	HITS-CLIP	23824327
MIRT731492	hsa-miR-26b-5p	Luciferase reporter assay	27027434
MIRT731492	hsa-miR-26b-5p	Luciferase reporter assay	27027434
MIRT002340	hsa-miR-26a-5p	Immunoblot, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, qRT-PCR	26548531
MIRT002340	hsa-miR-26a-5p	Immunoblot, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, qRT-PCR	26548531
MIRT732815	hsa-miR-100-5p	Luciferase reporter assay, RNA-seq, qRT-PCR, Western blotting	34256859
MIRT733479	hsa-miR-135a-5p	Immunohistochemistry (IHC), Immunoprecipitaion (IP), In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	34145212
MIRT734178	hsa-miR-144-5p	Flow cytometry, Luciferase reporter assay, qRT-PCR, Western blotting	31853287
MIRT735286	rno-miR-203a-3p	Luciferase reporter assay, Western blotting, Microarray, Immunofluorescence, qRT-PCR	32589363
MIRT736848	hsa-miR-486-5p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	34158869
MIRT653382	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT653381	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT653380	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT653379	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT653378	hsa-miR-3117-3p	HITS-CLIP	23824327
MIRT755583	hsa-miR-424-3p	Western blotting	36846585
MIRT1370368	hsa-miR-1254	CLIP-seq
MIRT1370369	hsa-miR-129-5p	CLIP-seq
MIRT1370370	hsa-miR-1297	CLIP-seq
MIRT1370371	hsa-miR-155	CLIP-seq
MIRT1370372	hsa-miR-1827	CLIP-seq
MIRT1370373	hsa-miR-187	CLIP-seq
MIRT1370374	hsa-miR-1913	CLIP-seq
MIRT1370375	hsa-miR-205	CLIP-seq
MIRT1370376	hsa-miR-223	CLIP-seq
MIRT1370377	hsa-miR-26a	CLIP-seq
MIRT1370378	hsa-miR-26b	CLIP-seq
MIRT1370379	hsa-miR-3116	CLIP-seq
MIRT1370380	hsa-miR-3180-5p	CLIP-seq
MIRT1370381	hsa-miR-324-3p	CLIP-seq
MIRT1370382	hsa-miR-345	CLIP-seq
MIRT1370383	hsa-miR-3922-5p	CLIP-seq
MIRT1370384	hsa-miR-3942-3p	CLIP-seq
MIRT1370385	hsa-miR-4257	CLIP-seq
MIRT1370386	hsa-miR-4277	CLIP-seq
MIRT1370387	hsa-miR-4427	CLIP-seq
MIRT1370388	hsa-miR-4448	CLIP-seq
MIRT1370389	hsa-miR-4465	CLIP-seq
MIRT1370390	hsa-miR-4680-3p	CLIP-seq
MIRT1370391	hsa-miR-4697-3p	CLIP-seq
MIRT1370392	hsa-miR-4708-3p	CLIP-seq
MIRT1370393	hsa-miR-4709-5p	CLIP-seq
MIRT1370394	hsa-miR-4727-5p	CLIP-seq
MIRT1370395	hsa-miR-4762-3p	CLIP-seq
MIRT1370396	hsa-miR-513a-3p	CLIP-seq
MIRT1370397	hsa-miR-513c	CLIP-seq
MIRT1370398	hsa-miR-514b-5p	CLIP-seq
MIRT1370399	hsa-miR-520a-5p	CLIP-seq
MIRT1370400	hsa-miR-525-5p	CLIP-seq
MIRT1370401	hsa-miR-661	CLIP-seq
MIRT1370370	hsa-miR-1297	CLIP-seq
MIRT1370373	hsa-miR-187	CLIP-seq
MIRT1370375	hsa-miR-205	CLIP-seq
MIRT1370376	hsa-miR-223	CLIP-seq
MIRT1370402	hsa-miR-2277-3p	CLIP-seq
MIRT1370377	hsa-miR-26a	CLIP-seq
MIRT1370378	hsa-miR-26b	CLIP-seq
MIRT1370403	hsa-miR-3120-3p	CLIP-seq
MIRT1370404	hsa-miR-3121-5p	CLIP-seq
MIRT1370382	hsa-miR-345	CLIP-seq
MIRT1370383	hsa-miR-3922-5p	CLIP-seq
MIRT1370385	hsa-miR-4257	CLIP-seq
MIRT1370386	hsa-miR-4277	CLIP-seq
MIRT1370405	hsa-miR-4310	CLIP-seq
MIRT1370387	hsa-miR-4427	CLIP-seq
MIRT1370388	hsa-miR-4448	CLIP-seq
MIRT1370389	hsa-miR-4465	CLIP-seq
MIRT1370406	hsa-miR-4666-3p	CLIP-seq
MIRT1370390	hsa-miR-4680-3p	CLIP-seq
MIRT1370391	hsa-miR-4697-3p	CLIP-seq
MIRT1370392	hsa-miR-4708-3p	CLIP-seq
MIRT1370393	hsa-miR-4709-5p	CLIP-seq
MIRT1370395	hsa-miR-4762-3p	CLIP-seq
MIRT1370396	hsa-miR-513a-3p	CLIP-seq
MIRT1370397	hsa-miR-513c	CLIP-seq
MIRT1370398	hsa-miR-514b-5p	CLIP-seq
MIRT1370407	hsa-miR-590-3p	CLIP-seq
MIRT1370370	hsa-miR-1297	CLIP-seq
MIRT1370372	hsa-miR-1827	CLIP-seq
MIRT1370373	hsa-miR-187	CLIP-seq
MIRT1370375	hsa-miR-205	CLIP-seq
MIRT1370377	hsa-miR-26a	CLIP-seq
MIRT1370378	hsa-miR-26b	CLIP-seq
MIRT2109957	hsa-miR-30a	CLIP-seq
MIRT2109958	hsa-miR-30b	CLIP-seq
MIRT2109959	hsa-miR-30c	CLIP-seq
MIRT2109960	hsa-miR-30d	CLIP-seq
MIRT2109961	hsa-miR-30e	CLIP-seq
MIRT1370380	hsa-miR-3180-5p	CLIP-seq
MIRT1370383	hsa-miR-3922-5p	CLIP-seq
MIRT1370385	hsa-miR-4257	CLIP-seq
MIRT1370387	hsa-miR-4427	CLIP-seq
MIRT1370388	hsa-miR-4448	CLIP-seq
MIRT1370389	hsa-miR-4465	CLIP-seq
MIRT1370390	hsa-miR-4680-3p	CLIP-seq
MIRT1370392	hsa-miR-4708-3p	CLIP-seq
MIRT1370393	hsa-miR-4709-5p	CLIP-seq
MIRT1370395	hsa-miR-4762-3p	CLIP-seq
MIRT1370396	hsa-miR-513a-3p	CLIP-seq
MIRT1370399	hsa-miR-520a-5p	CLIP-seq
MIRT1370400	hsa-miR-525-5p	CLIP-seq
MIRT1370407	hsa-miR-590-3p	CLIP-seq
MIRT1370368	hsa-miR-1254	CLIP-seq
MIRT1370370	hsa-miR-1297	CLIP-seq
MIRT1370372	hsa-miR-1827	CLIP-seq
MIRT1370373	hsa-miR-187	CLIP-seq
MIRT1370375	hsa-miR-205	CLIP-seq
MIRT1370376	hsa-miR-223	CLIP-seq
MIRT1370377	hsa-miR-26a	CLIP-seq
MIRT1370378	hsa-miR-26b	CLIP-seq
MIRT1370379	hsa-miR-3116	CLIP-seq
MIRT1370404	hsa-miR-3121-5p	CLIP-seq
MIRT1370380	hsa-miR-3180-5p	CLIP-seq
MIRT1370382	hsa-miR-345	CLIP-seq
MIRT1370383	hsa-miR-3922-5p	CLIP-seq
MIRT1370385	hsa-miR-4257	CLIP-seq
MIRT1370386	hsa-miR-4277	CLIP-seq
MIRT1370387	hsa-miR-4427	CLIP-seq
MIRT1370388	hsa-miR-4448	CLIP-seq
MIRT1370389	hsa-miR-4465	CLIP-seq
MIRT1370390	hsa-miR-4680-3p	CLIP-seq
MIRT1370391	hsa-miR-4697-3p	CLIP-seq
MIRT1370392	hsa-miR-4708-3p	CLIP-seq
MIRT1370393	hsa-miR-4709-5p	CLIP-seq
MIRT1370395	hsa-miR-4762-3p	CLIP-seq
MIRT1370397	hsa-miR-513c	CLIP-seq
MIRT1370398	hsa-miR-514b-5p	CLIP-seq
MIRT1370399	hsa-miR-520a-5p	CLIP-seq
MIRT1370400	hsa-miR-525-5p	CLIP-seq
MIRT1370401	hsa-miR-661	CLIP-seq
MIRT1370384	hsa-miR-3942-3p	CLIP-seq
MIRT1370403	hsa-miR-3120-3p	CLIP-seq
MIRT1370405	hsa-miR-4310	CLIP-seq
MIRT1370406	hsa-miR-4666-3p	CLIP-seq
MIRT2459983	hsa-miR-1252	CLIP-seq
MIRT2459984	hsa-miR-548aa	CLIP-seq
MIRT2627611	hsa-miR-186	CLIP-seq
MIRT2627612	hsa-miR-216b	CLIP-seq
MIRT1370402	hsa-miR-2277-3p	CLIP-seq
MIRT2627613	hsa-miR-2355-3p	CLIP-seq
MIRT1370403	hsa-miR-3120-3p	CLIP-seq
MIRT2627614	hsa-miR-3187-3p	CLIP-seq
MIRT1370384	hsa-miR-3942-3p	CLIP-seq
MIRT2627615	hsa-miR-4263	CLIP-seq
MIRT2627616	hsa-miR-4292	CLIP-seq
MIRT2627617	hsa-miR-4308	CLIP-seq
MIRT1370405	hsa-miR-4310	CLIP-seq
MIRT2627618	hsa-miR-4435	CLIP-seq
MIRT2627619	hsa-miR-4529-5p	CLIP-seq
MIRT2627620	hsa-miR-4646-3p	CLIP-seq
MIRT1370406	hsa-miR-4666-3p	CLIP-seq
MIRT2627621	hsa-miR-4690-5p	CLIP-seq
MIRT2627622	hsa-miR-4701-5p	CLIP-seq
MIRT2627623	hsa-miR-4795-3p	CLIP-seq
MIRT2627624	hsa-miR-494	CLIP-seq
MIRT2627625	hsa-miR-548n	CLIP-seq
MIRT2627626	hsa-miR-548s	CLIP-seq
MIRT2627627	hsa-miR-548t	CLIP-seq
MIRT2627628	hsa-miR-576-5p	CLIP-seq
MIRT2627629	hsa-miR-588	CLIP-seq
MIRT1370407	hsa-miR-590-3p	CLIP-seq
MIRT2627630	hsa-miR-664	CLIP-seq
MIRT2627631	hsa-miR-944	CLIP-seq
MIRT2627611	hsa-miR-186	CLIP-seq
MIRT2627612	hsa-miR-216b	CLIP-seq
MIRT1370402	hsa-miR-2277-3p	CLIP-seq
MIRT2627613	hsa-miR-2355-3p	CLIP-seq
MIRT2691352	hsa-miR-3074-3p	CLIP-seq
MIRT1370403	hsa-miR-3120-3p	CLIP-seq
MIRT2627614	hsa-miR-3187-3p	CLIP-seq
MIRT2691353	hsa-miR-3924	CLIP-seq
MIRT2627615	hsa-miR-4263	CLIP-seq
MIRT2627616	hsa-miR-4292	CLIP-seq
MIRT2627617	hsa-miR-4308	CLIP-seq
MIRT1370405	hsa-miR-4310	CLIP-seq
MIRT2627618	hsa-miR-4435	CLIP-seq
MIRT2627619	hsa-miR-4529-5p	CLIP-seq
MIRT2627620	hsa-miR-4646-3p	CLIP-seq
MIRT1370406	hsa-miR-4666-3p	CLIP-seq
MIRT2627622	hsa-miR-4701-5p	CLIP-seq
MIRT2627623	hsa-miR-4795-3p	CLIP-seq
MIRT2627626	hsa-miR-548s	CLIP-seq
MIRT2627628	hsa-miR-576-5p	CLIP-seq
MIRT2627629	hsa-miR-588	CLIP-seq
MIRT1370407	hsa-miR-590-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Unknown	22036566

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0000785	Component	Chromatin	IDA	8653785
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12270938, 20147459
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	9389648, 12270938
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	12270938
GO:0001503	Process	Ossification	IGI	25012146
GO:0001649	Process	Osteoblast differentiation	IDA	34948289
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001673	Component	Male germ cell nucleus	IDA	8653785
GO:0001710	Process	Mesodermal cell fate commitment	IEA
GO:0002051	Process	Osteoblast fate commitment	IEA
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9389648
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	9436979, 11779505, 15231748, 15647271, 16882717, 17183365, 17292623, 17785517, 18548003, 19914168, 20937913, 21453705, 21708152, 21947082, 24412244, 24554596, 25755279, 26878725, 28514442, 31467278, 32296183, 32814053, 33961781, 35512704
GO:0005634	Component	Nucleus	IDA	8653785, 9389648
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	NAS	9759503
GO:0005634	Component	Nucleus	TAS	19018011
GO:0005637	Component	Nuclear inner membrane	IDA	15647271
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	9389648
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006351	Process	DNA-templated transcription	IDA	11779505
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	15514116
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	31800957
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	NAS	9759503
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	9389648
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	NAS	8663601
GO:0007276	Process	Gamete generation	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009880	Process	Embryonic pattern specification	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	NAS	8663601
GO:0017151	Function	DEAD/H-box RNA helicase binding	IPI	18548003
GO:0019901	Function	Protein kinase binding	IPI	12874272
GO:0030154	Process	Cell differentiation	IBA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8637600, 8653785, 9389648, 18548003, 31800957
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IMP	19664780
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030509	Process	BMP signaling pathway	TAS	19018011
GO:0030901	Process	Midbrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031053	Process	Primary miRNA processing	TAS	19018011
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	11278251
GO:0032502	Process	Developmental process	IEA
GO:0032991	Component	Protein-containing complex	IDA	23610558
GO:0042592	Process	Homeostatic process	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	9111321, 11779505, 15231748
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12270938, 19664780
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0051148	Process	Negative regulation of muscle cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060348	Process	Bone development	IEA
GO:0060395	Process	SMAD protein signal transduction	IBA
GO:0060395	Process	SMAD protein signal transduction	IDA	9111321, 19664780
GO:0060395	Process	SMAD protein signal transduction	IEA
GO:0060395	Process	SMAD protein signal transduction	IGI	25012146
GO:0060395	Process	SMAD protein signal transduction	ISS
GO:0060395	Process	SMAD protein signal transduction	NAS	14687659
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0070410	Function	Co-SMAD binding	IPI	9111321
GO:0070411	Function	I-SMAD binding	IBA
GO:0070411	Function	I-SMAD binding	IPI	9436979
GO:0070878	Function	Primary miRNA binding	IEA
GO:0071141	Component	SMAD protein complex	NAS	14687659
GO:0071142	Component	Homomeric SMAD protein complex	IEA
GO:0071142	Component	Homomeric SMAD protein complex	IPI	11779505
GO:0071144	Component	Heteromeric SMAD protein complex	IBA
GO:0071144	Component	Heteromeric SMAD protein complex	IPI	11779505
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0141091	Process	Transforming growth factor beta receptor superfamily signaling pathway	IEA
GO:1900006	Process	Positive regulation of dendrite development	NAS	9759503
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IMP	24047927
GO:1990262	Process	Anti-Mullerian hormone receptor signaling pathway	IDA	24312319

Other IDs

• MIM: 601595
• HGNC: 6767
• e!Ensembl: ENSG00000170365

Protein

• UniProt ID: Q15797
• Protein name: Mothers against decapentaplegic homolog 1 (MAD homolog 1) (Mothers against DPP homolog 1) (JV4-1) (Mad-related protein 1) (SMAD family member 1) (SMAD 1) (Smad1) (hSMAD1) (Transforming growth factor-beta-signaling protein 1) (BSP-1)
• Protein function: Transcriptional modulator that plays a role in various cellular processes, including embryonic development, cell differentiation, and tissue homeostasis (PubMed:9335504). Upon BMP ligand binding to their receptors at the cell surface, is phospho
• PDB: 1KHU, 2LAW, 2LAX, 2LAY, 2LAZ, 2LB0, 2LB1, 3Q47, 3Q4A, 5ZOK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03165	MH1	30 → 131	MH1 domain	Domain
  PF03166	MH2	269 → 441	MH2 domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highest expression seen in the heart and skeletal muscle.
• Sequence:

  MNVTSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKKKGAMEELEKALSCPGQ
  PSNCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSKQKEV
  CINPYHYKRVESPVLPPVLVPRHSEYNPQHSLLAQFRNLGQNEPHMPLNATFPDSFQQPN
  SHPFPHSPNSSYPNSPGSSSSTYPHSPTSSDPGSPFQMPADTPPPAYLPPEDPMTQDGSQ
  PMDTNMMAPPLPSEINRGDVQAVAYEEPKHWCSIVYYELNNRVGEAFHASSTSVLVDGFT
  DPSNNKNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECLSDSSIFVQSRNC
  NYHHGFHPTTVCKIPSGCSLKIFNNQEFAQLLAQSVNHGFETVYELTKMCTIRMSFVKGW
  GAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPHNPISSVS

• Sequence length: 465

Pathways

KEGG:

Hormone signaling
TGF-beta signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Transcriptional misregulation in cancer

Reactome:

Signaling by BMP
Ub-specific processing proteases
RUNX2 regulates bone development

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL HEART DISEASE	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary hypertension, primary, 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SMAD1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	26701726		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	24178621, 31648327		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36764297	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26318657		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	20460105		★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	23968872	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30745534		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	36198763	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26215036, 30046030	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30745534		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	15470494, 21092277		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	2644988		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17363596, 21527583, 25077702, 26134759, 30674353		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36194598	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	25623554		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	12967475		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	12967475	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28601662		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34110955	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28199984	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	26317208		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	23088614		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23088614	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29299158		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16769811, 21068203, 31545230, 32921281, 37373155	Associate	★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	17350578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital keratoglobus	Congenital Keratoglobus	BEFREE	25712132		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28595632		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28595632, 28604383	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17350578		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19583961, 28202082, 29257223, 29753378		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29328402		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19539633	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29328402		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28595632		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	14732718, 19247629, 20803090, 21360446, 28298362, 29490904, 30002389		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12967475, 24178621, 29615404, 31648327		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19360286	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34725559	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	29650961		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	18684712, 19929436, 25773749, 27530160, 29170109		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22650359		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25165192	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22650359		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19513897		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25165192, 31858559, 34104086	Associate	★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	19819941, 22964636		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35281600	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	31127639		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	31127639		★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	31689244		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	31258657		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20336693	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	20522807, 23139294, 26809239, 29904431, 30603049		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	29650961		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32126996	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	29650961		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31338931		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	31258657		★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	36198763	Inhibit	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	25247416	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	2644988, 28679949, 30177817		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22611157, 27027434, 29799303, 30008908		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28794048		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22611157		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16247476		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15470494		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	15470494		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17363596, 21527583, 25077702, 26134759, 30674353		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28794048		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28601662		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19056927		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22452883, 26227059, 28881744		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22588298		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29780169		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	27494873		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19816200		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	25623554		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28489849		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35297204, 36717825	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35281467	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	36629404	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	2644988		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	2644988, 3258049		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15911698, 20060813		★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	27530160	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17455258, 19773112, 24618373, 25243859, 28731456, 28771228, 29799303, 31648327		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	23423222		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	23423222, 27494873	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26701726		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	15892165		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26778533, 37652257	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29435145, 31703756		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31304902		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22868198	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23262982, 24492129, 25761878		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19996292	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19056927		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17043655, 19056927		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19056927	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28983616		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37930517	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22452883, 26227059, 28881744		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17496924, 17579118, 18942118	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22452883		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30274147, 32126996, 32934261	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal fibrosis	Renal fibrosis	BEFREE	30447934		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30046030		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	15902307		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20462450, 26216950		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28035402	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21565626		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22588298		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34138687	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22277251		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	31719885		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	27419135, 29895327, 34954251	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	30060141		★☆☆☆☆ Found in Text Mining only