Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4086
Gene name	SMAD family member 1
Gene symbol	SMAD1
Synonyms (NCBI Gene)	BSP-1BSP1JV4-1JV41MADH1MADR1
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001500	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	20427544
MIRT001500	hsa-miR-155-5p	pSILAC	18668040
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assayWestern blot	18197755
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assayWestern blot	18197755
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assayWestern 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 assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assayWestern blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assayWestern blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assayWestern blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assayWestern blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006319	hsa-miR-30a-5p	Luciferase reporter assayWestern blot	22253433
MIRT006320	hsa-miR-30b-5p	Luciferase reporter assayWestern blot	22253433
MIRT006321	hsa-miR-30c-5p	Luciferase reporter assayWestern blot	22253433
MIRT006322	hsa-miR-30d-5p	Luciferase reporter assayWestern 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 assayqRT-PCRWestern blot	23800974
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	24047927
MIRT438188	hsa-miR-675-3p	Luciferase reporter assayqRT-PCRWestern blot	24532688
MIRT002340	hsa-miR-26a-5p	Luciferase reporter assay	24047927
MIRT438188	hsa-miR-675-3p	Luciferase reporter assayqRT-PCRWestern 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	ImmunoblotImmunohistochemistryImmunoprecipitaionIn situ hybridizationLuciferase reporter assayqRT-PCR	26548531
MIRT002340	hsa-miR-26a-5p	ImmunoblotImmunohistochemistryImmunoprecipitaionIn situ hybridizationLuciferase reporter assayqRT-PCR	26548531
MIRT732815	hsa-miR-100-5p	Luciferase reporter assayRNA-seqqRT-PCRWestern blotting	34256859
MIRT733479	hsa-miR-135a-5p	Immunohistochemistry (IHC)Immunoprecipitaion (IP)In situ hybridizationLuciferase reporter assayqRT-PCRWestern blotting	34145212
MIRT734178	hsa-miR-144-5p	Flow cytometryLuciferase reporter assayqRT-PCRWestern blotting	31853287
MIRT735286	rno-miR-203a-3p	Luciferase reporter assayWestern blottingMicroarrayImmunofluorescenceqRT-PCR	32589363
MIRT736848	hsa-miR-486-5p	Luciferase reporter assayWestern blottingRNA-seqqRT-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

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Transcription factor	Regulation	Reference
GATA1	Unknown	22036566

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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

MIM	HGNC	e!Ensembl
601595	6767	ENSG00000170365

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

Interactions

View interactions

	KEGG		Reactome
	Hormone signaling TGF-beta signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells Transcriptional misregulation in cancer		Signaling by BMP Ub-specific processing proteases RUNX2 regulates bone development

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Pulmonary hypertension, primary, 1	Uncertain significance	rs587777018	RCV000488453
SMAD1-related disorder	Likely benign	rs146090192	RCV003901576
Variant of unknown significance	Uncertain significance	rs587777018	RCV000054384

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	18008360
Alzheimer Disease	Associate	36764297
Aortic Valve Disease	Associate	23968872
Arteriovenous Malformations	Inhibit	36198763
Arthritis Rheumatoid	Associate	26215036, 30046030
Breast Neoplasms	Associate	36194598
Bronchiolitis Obliterans Syndrome	Associate	26476349
Burkitt Lymphoma	Associate	12967475
Carcinoma Non Small Cell Lung	Associate	23154546
Carcinoma Ovarian Epithelial	Associate	34110955
Carcinoma Renal Cell	Associate	28199984
Chondrosarcoma	Associate	23088614
Colorectal Neoplasms	Associate	16769811, 21068203, 31545230, 32921281, 37373155
Coronary Artery Disease	Associate	28595632, 28604383
Diabetes Mellitus	Associate	19539633
Esophageal Neoplasms	Associate	19360286
Esophageal Neoplasms	Stimulate	34725559
Fetal Growth Retardation	Associate	25942476
Fibrosis	Associate	26476349, 30729664
Glioblastoma	Associate	25165192
Glioma	Associate	25165192, 31858559, 34104086
Heart Defects Congenital	Associate	35281600
Hypoxia	Inhibit	20336693
Idiopathic Pulmonary Fibrosis	Associate	32126996
Infections	Stimulate	28794048
Inflammation	Stimulate	26778533
Intracranial Arteriovenous Malformations	Inhibit	36198763
Juvenile polyposis syndrome	Associate	10446110
Keratoacanthoma	Associate	19671862
Keratoconus	Associate	25247416
Leukemia Lymphocytic Chronic B Cell	Stimulate	28349818
Lymphoma B Cell	Associate	21092277
Lymphoma Large B Cell Diffuse	Associate	12967475, 23955273
Multiple Myeloma	Associate	35297204, 36717825
Multiple Sclerosis	Associate	35281467
Myelodysplastic Syndromes	Associate	36629404
Myositis Ossificans	Associate	27530160
Neoplasm Metastasis	Associate	31858559, 36800542
Neoplasms	Associate	23088614, 23676460, 34725559, 36800542, 36928315
Neoplasms	Inhibit	28731456
Neuroendocrine Tumors	Associate	23676460
Neurofibrosarcoma	Associate	23423222, 27494873
Osteoarthritis	Associate	26778533, 37652257
Osteosarcoma	Associate	22868198
Ovarian Neoplasms	Associate	19996292
Pancreatic Neoplasms	Associate	19056927
Phenylketonurias	Associate	15845886
Polycystic Ovary Syndrome	Associate	37930517
Prostatic Neoplasms	Associate	17496924, 17579118, 18942118
Pulmonary Arterial Hypertension	Associate	30274147, 32126996, 32934261
Squamous Cell Carcinoma of Head and Neck	Associate	28035402
Status Asthmaticus	Associate	34257337
Stomach Neoplasms	Associate	34138687
Vascular Calcification	Associate	27419135, 29895327, 34954251

SMAD1 (SMAD family member 1)