SMAD1 and LEMD3

Number of citations: 54 (PubMedID 15231748)
Data Source: HPRD (two hybrid)

		SMAD1	LEMD3
Name		SMAD family member 1	LEM domain containing 3
Structure
GO Annotations	Cellular Component	Chromatin Male Germ Cell Nucleus Nucleus Nuclear Inner Membrane Nucleoplasm Transcription Regulator Complex Cytoplasm Cytosol Membrane Protein-containing Complex SMAD Protein Complex Homomeric SMAD Protein Complex Heteromeric SMAD Protein Complex	Nucleus Nuclear Envelope Nuclear Inner Membrane Membrane Nuclear Membrane
	Molecular Function	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding DEAD/H-box RNA Helicase Binding Protein Kinase Binding Ubiquitin Protein Ligase Binding Identical Protein Binding Sequence-specific DNA Binding Metal Ion Binding Co-SMAD Binding I-SMAD Binding Primary MiRNA Binding	Nucleic Acid Binding DNA Binding Protein Binding U1 SnRNP Binding
	Biological Process	MAPK Cascade Ossification Osteoblast Differentiation Ureteric Bud Development Mesodermal Cell Fate Commitment Osteoblast Fate Commitment Cardiac Conduction System Development DNA-templated Transcription Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Transcription By RNA Polymerase II Intracellular Iron Ion Homeostasis Inflammatory Response Signal Transduction Transforming Growth Factor Beta Receptor Signaling Pathway Gamete Generation Cell Population Proliferation Negative Regulation Of Cell Population Proliferation Anatomical Structure Morphogenesis Embryonic Pattern Specification Positive Regulation Of Gene Expression Cell Differentiation BMP Signaling Pathway Midbrain Development Hindbrain Development Primary MiRNA Processing Developmental Process Homeostatic Process Positive Regulation Of Osteoblast Differentiation Positive Regulation Of Transcription By RNA Polymerase II Stem Cell Differentiation Negative Regulation Of Muscle Cell Differentiation Cartilage Development Cardiac Muscle Cell Proliferation Bone Development SMAD Protein Signal Transduction Positive Regulation Of Cartilage Development Cellular Response To Growth Factor Stimulus Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Positive Regulation Of Dendrite Development Positive Regulation Of MiRNA Transcription Positive Regulation Of Sprouting Angiogenesis Anti-Mullerian Hormone Receptor Signaling Pathway	Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Negative Regulation Of BMP Signaling Pathway Negative Regulation Of Activin Receptor Signaling Pathway
Pathways		Signaling by BMP Ub-specific processing proteases RUNX2 regulates bone development Cardiogenesis Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation Depolymerization of the Nuclear Lamina RAC1 GTPase cycle RAC2 GTPase cycle RHOD GTPase cycle RHOG GTPase cycle RAC3 GTPase cycle RND3 GTPase cycle RND2 GTPase cycle RND1 GTPase cycle
Diseases		None	Disorders caused by loss-of-function of LEMD3, including: Osteopoikilosis; Buschke-Ollendorff syndrome (BOS); Melorheostosis
GWAS		HDL cholesterol levels ( 32203549 ) Hemoglobin ( 32888494 ) Lung function (FEV1) ( 30061609 ) Malaria ( 31844061 ) Midgestational cytokine/chemokine levels (maternal genetic effect) ( 30134952 ) Panic disorder ( 31712720 ) Red cell distribution width ( 32888494 ) Response to cognitive-behavioural therapy in anxiety disorder ( 26989097 )	Brain morphology (MOSTest) ( 32665545 ) Dentate gyrus granule cell layer volume ( 30279459 ) Dentate gyrus molecular layer volume ( 30279459 ) Height ( 31562340 ) Hippocampal fissure volume ( 30279459 ) Hippocampal subfield CA1 volume ( 30279459 ) Hippocampal subfield CA1 volume (corrected for total hippocampal volume) ( 30279459 ) Hippocampal subfield CA3 volume ( 30279459 ) Hippocampal subfield CA4 volume ( 30279459 ) Subiculum volume ( 30279459 ) Total hippocampal volume ( 30279459 ) Venous thromboembolism adjusted for sickle cell variant rs77121243-T ( 28203683 ) Waist-to-hip ratio adjusted for BMI ( 26426971 ) Waist-to-hip ratio adjusted for BMI x sex interaction ( 26426971 )
Interacting Genes		163 interacting genes: ACVR1 ACVRL1 AKR1B1 ANKRD27 AP2A2 APC APP AR ARHGEF6 ARL4D AXIN2 BMPR1A BTBD2 BTG2 BUB1 CAMSAP1 CCND1 CDK7 CDK9 CHMP3 CILK1 COL4A1 CREBBP CTNNA1 DACH1 DLC1 DNMT3L DVL1 ECSIT EIF2AK4 ELP3 EP300 EPN2 ERBB2 ERBIN EWSR1 FBXL12 FBXO30 FBXW7 FHL5 FOXG1 FRZB GDF6 GLI3 GMEB1 GSC HBP1 HIPK2 HOXA13 HOXA5 HOXC8 HOXD13 ING2 INPP4A IRF2BP1 KAT2B KMT2D LEF1 LEMD3 LMNA MAP2K3 MAPK1 MAST4 MBD1 MECOM MED6 MEN1 MGA MLH1 MLH3 MRTFB MSH2 MUTYH NAT9 NEDD4 NEDD9 NEUROG1 NFE2L2 NKX3-2 NOTCH2 NRAS OAZ1 OAZ3 PAK1 PARD3 PDGFRL PIAS1 PIAS4 PIGQ PLEKHB1 PREB PSMB4 PSMD1 PSMD11 PTPN12 PUM1 RAB2B RAB30 RAB34 RAB38 RAB3B RAB6B RAC2 RAN RAP2A RASD2 RASL12 RFX1 RHEBL1 RHOG RPS27A SF3B1 SKI SKIL SMAD2 SMAD3 SMAD4 SMAD5 SMAD6 SMARCE1 SMURF1 SMURF2 SNIP1 SNRNP70 SOX5 SQSTM1 SS18L1 STARD13 STK11 STUB1 SUV39H1 TAPT1 TCF20 TET2 TGFBR1 TLR2 TNNT1 TOB1 TRIP6 TTF1 TTF2 UBA52 UBC UBE2Z UBXN1 USP45 VEPH1 WDR77 XPC XPO1 YAP1 YY1 ZBTB44 ZDHHC3 ZEB2 ZNF251 ZNF423 ZNF510 ZNF512B ZNF521 ZNF76 ZNF8 ZSCAN4	7 interacting genes: BCLAF1 RABAC1 REEP4 SMAD1 SMAD2 SMAD3 SMAD9
Entrez ID		4086	23592
HPRD ID		03356	09704
Ensembl ID		ENSG00000170365	ENSG00000174106
Uniprot IDs		Q15797	Q9Y2U8
PDB IDs		1KHU 2LAW 2LAX 2LAY 2LAZ 2LB0 2LB1 3Q47 3Q4A 5ZOK	2CH0 5ZOJ 5ZOK
GO Terms Enriched among Interactors		Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of RNA Metabolic Process Regulation Of Transcription By RNA Polymerase II Regulation Of Primary Metabolic Process Nucleoplasm Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Nucleus Positive Regulation Of RNA Metabolic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Macromolecule Metabolic Process Regulation Of Developmental Process Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Regulation Of Metabolic Process SMAD Binding Regulation Of Gene Expression Pattern Specification Process Regulation Of Macromolecule Biosynthetic Process Regulation Of Cellular Response To Growth Factor Stimulus Positive Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Positive Regulation Of Metabolic Process Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Positive Regulation Of Biosynthetic Process Positive Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Positive Regulation Of Transcription By RNA Polymerase II Regulation Of Cell Differentiation Regionalization Negative Regulation Of RNA Metabolic Process Negative Regulation Of Transcription By RNA Polymerase II Anterior/posterior Pattern Specification Negative Regulation Of Macromolecule Metabolic Process Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Regulation Of Multicellular Organismal Process Chromatin Binding DNA Binding Cellular Developmental Process I-SMAD Binding Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Positive Regulation Of Developmental Process Embryonic Morphogenesis Negative Regulation Of Developmental Process Negative Regulation Of Metabolic Process Regulation Of Multicellular Organismal Development Anatomical Structure Morphogenesis	Heteromeric SMAD Protein Complex SMAD Protein Complex I-SMAD Binding SMAD Protein Signal Transduction Co-SMAD Binding Primary MiRNA Processing Transforming Growth Factor Beta Receptor Signaling Pathway Homomeric SMAD Protein Complex MiRNA Processing Ureteric Bud Development Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Paraxial Mesoderm Morphogenesis Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Mesonephric Epithelium Development Mesonephric Tubule Development Transcription Regulator Complex Embryonic Pattern Specification Mesoderm Morphogenesis Pericardium Development Kidney Epithelium Development Trophoblast Cell Migration Response To Growth Factor DEAD/H-box RNA Helicase Binding Embryonic Foregut Morphogenesis Nodal Signaling Pathway Osteoblast Differentiation Transforming Growth Factor Beta Receptor Binding Positive Regulation Of Transcription By RNA Polymerase II R-SMAD Binding Embryonic Cranial Skeleton Morphogenesis Activin Receptor Signaling Pathway Enzyme-linked Receptor Protein Signaling Pathway Tube Development DNA-binding Transcription Factor Activity Positive Regulation Of Cartilage Development Endoderm Development Epithelium Development Negative Regulation Of Ossification Cellular Response To Growth Factor Stimulus Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Mesoderm Formation Gastrulation Nuclear Inner Membrane Ubiquitin Protein Ligase Binding Intracellular Signaling Cassette Phosphatase Binding Positive Regulation Of MiRNA Transcription Positive Regulation Of RNA Metabolic Process Formation Of Primary Germ Layer