Manteia

ENSG00000101665

Homo sapiens

Features

Gene ID:	ENSG00000101665

Biological name :	SMAD7

Synonyms :	O15105 / SMAD7 / SMAD family member 7

Possible biological names infered from orthology :

Species:	Homo sapiens

Chr. number:	18
Strand:	-1
Band:	q21.1
Gene start:	48919853
Gene end:	48950711

Corresponding Affymetrix probe sets:	204790_at (Human Genome U133 Plus 2.0 Array)

Cross references:	Ensembl peptide - ENSP00000262158 Ensembl peptide - ENSP00000465590 Ensembl peptide - ENSP00000466902 Ensembl peptide - ENSP00000467621 NCBI entrez gene - 4092 See in Manteia. OMIM - 602932 RefSeq - NM_001190821 RefSeq - NM_001190822 RefSeq - NM_005904 RefSeq Peptide - NP_001177750 RefSeq Peptide - NP_001177751 RefSeq Peptide - NP_005895 swissprot - O15105 swissprot - K7EKF0 Ensembl - ENSG00000101665

Related genetic diseases (OMIM):	612229 - {Colorectal cancer, susceptibility to, 3}, 612229

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
smad7	ENSDARG00000016858	Danio rerio
	ENSGALG00000037160	Gallus gallus
SMAD7B	ENSGALG00000029545	Gallus gallus
Smad7	ENSMUSG00000025880	Mus musculus

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
SMAD6 / O43541 / SMAD family member 6	ENSG00000137834	50
SMAD9 / O15198 / SMAD family member 9	ENSG00000120693	27
SMAD1 / Q15797 / SMAD family member 1	ENSG00000170365	26
SMAD5 / Q99717 / SMAD family member 5	ENSG00000113658	26
SMAD2 / Q15796 / SMAD family member 2	ENSG00000175387	26
SMAD3 / P84022 / SMAD family member 3	ENSG00000166949	25
SMAD4 / Q13485 / SMAD family member 4	ENSG00000141646	24

Protein motifs (from Interpro)

Interpro ID	Name
IPR001132	SMAD domain, Dwarfin-type
IPR003619	MAD homology 1, Dwarfin-type
IPR008984	SMAD/FHA domain superfamily
IPR013019	MAD homology, MH1
IPR013790	Dwarfin
IPR017855	SMAD-like domain superfamily
IPR036578	SMAD MH1 domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
biological_process	GO:0001657	ureteric bud development	IEA
biological_process	GO:0002725	negative regulation of T cell cytokine production	ISS
biological_process	GO:0006351	transcription, DNA-templated	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0007179	transforming growth factor beta receptor signaling pathway	IEA
biological_process	GO:0010717	regulation of epithelial to mesenchymal transition	IMP
biological_process	GO:0010719	negative regulation of epithelial to mesenchymal transition	TAS
biological_process	GO:0010801	negative regulation of peptidyl-threonine phosphorylation	IDA
biological_process	GO:0010944	negative regulation of transcription by competitive promoter binding	IDA
biological_process	GO:0016579	protein deubiquitination	TAS
biological_process	GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IC
biological_process	GO:0022409	positive regulation of cell-cell adhesion	IDA
biological_process	GO:0030336	negative regulation of cell migration	TAS
biological_process	GO:0030509	BMP signaling pathway	TAS
biological_process	GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS
biological_process	GO:0030514	negative regulation of BMP signaling pathway	IDA
biological_process	GO:0031397	negative regulation of protein ubiquitination	IDA
biological_process	GO:0031398	positive regulation of protein ubiquitination	IDA
biological_process	GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA
biological_process	GO:0032925	regulation of activin receptor signaling pathway	IDA
biological_process	GO:0033137	negative regulation of peptidyl-serine phosphorylation	IDA
biological_process	GO:0034333	adherens junction assembly	IMP
biological_process	GO:0034616	response to laminar fluid shear stress	IEP
biological_process	GO:0034629	cellular protein-containing complex localization	IDA
biological_process	GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	TAS
biological_process	GO:0048844	artery morphogenesis	ISS
biological_process	GO:0050821	protein stabilization	IDA
biological_process	GO:0051444	negative regulation of ubiquitin-protein transferase activity	IDA
biological_process	GO:0055010	ventricular cardiac muscle tissue morphogenesis	ISS
biological_process	GO:0055117	regulation of cardiac muscle contraction	ISS
biological_process	GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	IC
biological_process	GO:0060389	pathway-restricted SMAD protein phosphorylation	ISS
biological_process	GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	TAS
biological_process	GO:0060412	ventricular septum morphogenesis	ISS
biological_process	GO:0071560	cellular response to transforming growth factor beta stimulus	IMP
biological_process	GO:1990830	cellular response to leukemia inhibitory factor	IEA
biological_process	GO:2000317	negative regulation of T-helper 17 type immune response	ISS
biological_process	GO:2000320	negative regulation of T-helper 17 cell differentiation	ISS
cellular_component	GO:0001650	fibrillar center	IDA
cellular_component	GO:0005622	intracellular	IEA
cellular_component	GO:0005634	nucleus	IDA
cellular_component	GO:0005654	nucleoplasm	TAS
cellular_component	GO:0005667	transcription factor complex	IEA
cellular_component	GO:0005737	cytoplasm	IDA
cellular_component	GO:0005813	centrosome	IDA
cellular_component	GO:0005829	cytosol	TAS
cellular_component	GO:0005886	plasma membrane	IDA
cellular_component	GO:0005913	cell-cell adherens junction	IDA
cellular_component	GO:0016342	catenin complex	IDA
cellular_component	GO:0032991	protein-containing complex	IDA
molecular_function	GO:0003677	DNA binding	IEA
molecular_function	GO:0003700	DNA-binding transcription factor activity	IEA
molecular_function	GO:0005515	protein binding	IEA
molecular_function	GO:0005518	collagen binding	IEA
molecular_function	GO:0008013	beta-catenin binding	IPI
molecular_function	GO:0030617	transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity	IDA
molecular_function	GO:0031625	ubiquitin protein ligase binding	IPI
molecular_function	GO:0034713	type I transforming growth factor beta receptor binding	IPI
molecular_function	GO:0044212	transcription regulatory region DNA binding	IDA
molecular_function	GO:0046872	metal ion binding	IEA
molecular_function	GO:0048185	activin binding	IPI
molecular_function	GO:0070411	I-SMAD binding	IPI

Pathways (from Reactome)

Pathway description

Signaling by BMP

Downregulation of TGF-beta receptor signaling

SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription

UCH proteinases

Ub-specific processing proteases

Phenotype (from MGI, Zfin or HPO)

Phenotype

Definition

Genetic BG

No match

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSG00000121989	ACVR2A / P27037 / activin A receptor type 2A	/ reaction / complex
ENSG00000108854	Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2	/ complex / reaction
ENSG00000049759	NEDD4L / Q96PU5 / neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	/ reaction / complex
ENSG00000138696	BMPR1B / O00238 / bone morphogenetic protein receptor type 1B	/ complex / reaction
ENSG00000113658	SMAD5 / Q99717 / SMAD family member 5	/ complex / reaction
ENSG00000023734	STRAP / Q9Y3F4 / serine/threonine kinase receptor associated protein	/ complex / reaction
ENSG00000095739	BAMBI / Q13145 / BMP and activin membrane bound inhibitor	/ reaction / complex
ENSG00000170365	SMAD1 / Q15797 / SMAD family member 1	/ complex / reaction
ENSG00000087074	O75807 / PPP1R15A / protein phosphatase 1 regulatory subunit 15A	/ complex / reaction
ENSG00000105329	TGFB1 / P01137 / transforming growth factor beta 1	/ reaction / complex
ENSG00000163513	P37173 / TGFBR2 / transforming growth factor beta receptor 2	/ reaction / complex
ENSG00000172531	P62136 / PPP1CA / protein phosphatase 1 catalytic subunit alpha	/ complex / reaction
ENSG00000198742	Q9HCE7 / SMURF1 / SMAD specific E3 ubiquitin protein ligase 1	/ complex / reaction
ENSG00000186298	P36873 / PPP1CC / protein phosphatase 1 catalytic subunit gamma	/ complex / reaction
ENSG00000213639	P62140 / PPP1CB / protein phosphatase 1 catalytic subunit beta	/ reaction / complex
ENSG00000120693	SMAD9 / O15198 / SMAD family member 9	/ reaction / complex
ENSG00000106799	P36897 / TGFBR1 / transforming growth factor beta receptor 1	/ complex / reaction
ENSG00000157077	O95405 / ZFYVE9 / zinc finger FYVE-type containing 9	/ complex / reaction
ENSG00000135655	USP15 / Q9Y4E8 / ubiquitin specific peptidase 15	/ reaction / complex
ENSG00000157450	Q6ZNA4 / RNF111 / ring finger protein 111	/ complex / reaction
ENSG00000114739	ACVR2B / Q13705 / activin A receptor type 2B	/ reaction / complex
ENSG00000116750	UCHL5 / Q9Y5K5 / ubiquitin C-terminal hydrolase L5	/ reaction / complex
ENSG00000204217	BMPR2 / Q13873 / bone morphogenetic protein receptor type 2	/ complex / reaction
ENSG00000107779	BMPR1A / P36894 / bone morphogenetic protein receptor type 1A	/ reaction / complex
ENSG00000125845	BMP2 / P12643 / bone morphogenetic protein 2	/ complex / reaction
ENSG00000082898	XPO1 / O14980 / exportin 1	/ reaction / complex

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr