GDF5 and ACVR1

Data Source:
HPRD (in vivo)

		GDF5	ACVR1
Description		growth differentiation factor 5	activin A receptor type 1
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GO Annotations	Cellular Component	Extracellular Region Extracellular Space Plasma Membrane	Plasma Membrane Integral Component Of Plasma Membrane Receptor Complex Apical Part Of Cell Activin Receptor Complex BMP Receptor Complex
	Molecular Function	Cytokine Activity Protein Binding Growth Factor Activity BMP Binding Identical Protein Binding	Protein Kinase Activity Protein Serine/threonine Kinase Activity Transmembrane Receptor Protein Serine/threonine Kinase Activity Transforming Growth Factor Beta Receptor Activity, Type I Protein Binding ATP Binding Activin Receptor Activity, Type I Peptide Hormone Binding Protein Homodimerization Activity Cadherin Binding SMAD Binding Metal Ion Binding Activin Binding Transforming Growth Factor Beta Binding Protein Tyrosine Kinase Binding
	Biological Process	Transforming Growth Factor Beta Receptor Signaling Pathway Cell-cell Signaling Response To Mechanical Stimulus Positive Regulation Of Pathway-restricted SMAD Protein Phosphorylation Embryonic Limb Morphogenesis BMP Signaling Pathway Positive Regulation Of BMP Signaling Pathway Negative Regulation Of Chondrocyte Differentiation Positive Regulation Of Chondrocyte Differentiation Forelimb Morphogenesis Hindlimb Morphogenesis Regulation Of Multicellular Organism Growth Negative Regulation Of Neuron Apoptotic Process Ossification Involved In Bone Remodeling Positive Regulation Of Neuron Differentiation Negative Regulation Of Epithelial Cell Proliferation Regulation Of SMAD Protein Signal Transduction SMAD Protein Signal Transduction Chondroblast Differentiation Negative Regulation Of Mesenchymal Cell Apoptotic Process	G1/S Transition Of Mitotic Cell Cycle Angiogenesis Branching Involved In Blood Vessel Morphogenesis In Utero Embryonic Development Gastrulation With Mouth Forming Second Mesoderm Formation Neural Crest Cell Migration Acute Inflammatory Response Embryonic Heart Tube Morphogenesis Outflow Tract Septum Morphogenesis Atrioventricular Valve Morphogenesis Mitral Valve Morphogenesis Endocardial Cushion Morphogenesis Endocardial Cushion Fusion Atrial Septum Primum Morphogenesis Protein Phosphorylation Transforming Growth Factor Beta Receptor Signaling Pathway Germ Cell Development Determination Of Left/right Symmetry Heart Development Dorsal/ventral Pattern Formation Negative Regulation Of Signal Transduction Positive Regulation Of Pathway-restricted SMAD Protein Phosphorylation Peptidyl-threonine Phosphorylation Regulation Of Ossification Positive Regulation Of Cell Migration Positive Regulation Of Bone Mineralization BMP Signaling Pathway Activin Receptor Signaling Pathway Negative Regulation Of Activin Receptor Signaling Pathway Positive Regulation Of Osteoblast Differentiation Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Peptidyl-tyrosine Phosphorylation Smooth Muscle Cell Differentiation Pharyngeal System Development Pathway-restricted SMAD Protein Phosphorylation Ventricular Septum Morphogenesis Cardiac Muscle Cell Fate Commitment BMP Signaling Pathway Involved In Heart Development Endocardial Cushion Cell Fate Commitment Cellular Response To Growth Factor Stimulus Cellular Response To BMP Stimulus Positive Regulation Of Epithelial To Mesenchymal Transition Involved In Endocardial Cushion Formation Positive Regulation Of Determination Of Dorsal Identity Negative Regulation Of Extrinsic Apoptotic Signaling Pathway
Pathways		Molecules associated with elastic fibres
Drugs			ATP Dorsomorphin Fostamatinib
Diseases		Brachydactyly, including: Brachydactyly type C; Angel shaped phalangoepiphyseal dysplasia (ASPED) Other brachydactylies, including: Proximal symphalangism; Multiple synostosis syndrome Grebe dysplasia; Acromesomelic dysplasia Hunter-Thompson type Fibular hypoplasia and complex brachydactyly; DuPan syndrome	Fibrodysplasia ossificans progressiva (FOP)
GWAS		Anthropometric traits ( 30166351) Anthropometric traits (multi-trait analysis) ( 30166351) Blood protein levels ( 28240269) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Brain morphology (MOSTest) ( 32665545) Femoral neck size ( 31053729) Height ( 28552196 20881960 25282103 25429064 23563607 31562340 18391950 18391951 18391952 20189936) Hip bone size ( 31053729) Hip circumference ( 25673412) Hip circumference adjusted for BMI ( 28552196 25673412) Infant length ( 25281659) Intertrochanteric region size ( 31053729) Joint mobility (Beighton score) ( 27182965) Knee osteoarthritis ( 30664745 30374069) Knee pain ( 31482140) Metabolite levels ( 23823483) Pulse pressure ( 30578418) Refractive error ( 32231278) Spine bone size ( 31053729) Trochanter size ( 31053729) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI (additive genetic model) ( 30778226) Waist-to-hip ratio adjusted for BMI (age >50) ( 26426971) Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) ( 28448500) Waist-to-hip ratio adjusted for BMI in active individuals ( 28448500) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971) Waist-to-hip ratio adjusted for body mass index ( 25673412 28448500) Weight ( 28552196)	Severe gingival inflammation ( 28459102)
Interacting Genes		8 interacting genes: ACVR1 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CHRDL2 HTRA1	70 interacting genes: AP2B1 BAMBI BMP2 BMP6 BMP7 BMPR1A BMPR2 CDK14 CHN1 CREBBP DCAF6 DUSP13 ENG FANCL FBXO30 FBXO7 FCHO1 FGD6 FKBP4 FNTA GDF2 GDF5 IGSF1 IKBKB INHBA INHBB INHBC KLHL35 NEK8 NKIRAS1 NRAS NUAK2 OTUB1 PAK1 PLEK PLEKHB1 PLEKHJ1 RAB17 RAB25 RAB33B RAB3B RAB6B RAP2A RASD2 RASL12 RHEBL1 RHOD RHOJ RPS27A RRAS2 RXRA SMAD1 SMAD5 SMAD9 SOCS6 STIP1 STX8 TDGF1 TGFBR1 TGFBR2 THRB TTC17 TTC27 UBA52 UBE2E3 UBXN1 USP39 VDR VEPH1 WDR61
Entrez ID		8200	90
HPRD ID		03092	00021
Ensembl ID		ENSG00000125965	ENSG00000115170
Uniprot IDs		F1T0J1 P43026	D3DPA4 Q04771
PDB IDs		1WAQ 2BHK 3EVS 3QB4 5HK5 6Z3G 6Z3H 6Z3J 6Z3L 6Z3M	3H9R 3MTF 3OOM 3Q4U 4BGG 4C02 4DYM 5OXG 5OY6 6ACR 6EIX 6GI6 6GIN 6GIP 6I1S 6JUX 6SRH 6SZM 6T6D 6T8N 6TN8 6Z36 6ZGC 7A21
Enriched GO Terms of Interacting Partners?
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