InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACVR1

Summary

InnateDB Protein

IDBP-72932.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACVR1

Protein Name

activin A receptor, type I

Synonyms

ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1; TSRI;

Species

Homo sapiens

Ensembl Protein

ENSP00000263640

InnateDB Gene

IDBG-72930 (ACVR1)

Protein Structure

UniProt Annotation

Function

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]: A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. {ECO:0000269PubMed:16642017, ECO:0000269PubMed:19085907, ECO:0000269PubMed:19330033}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 119 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	119 [view]
Protein-Protein	117 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004675	transmembrane receptor protein serine/threonine kinase activity
GO:0004702	receptor signaling protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005024	transforming growth factor beta-activated receptor activity
GO:0005025	transforming growth factor beta receptor activity, type I
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016361	activin receptor activity, type I
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0017046	peptide hormone binding
GO:0019838	growth factor binding
GO:0042803	protein homodimerization activity
GO:0046332	SMAD binding
GO:0046872	metal ion binding
GO:0048185	activin binding
GO:0050431	transforming growth factor beta binding

Biological Process

GO:0000082	G1/S transition of mitotic cell cycle
GO:0001569	patterning of blood vessels
GO:0001655	urogenital system development
GO:0001701	in utero embryonic development
GO:0001702	gastrulation with mouth forming second
GO:0001707	mesoderm formation
GO:0001755	neural crest cell migration
GO:0002526	acute inflammatory response
GO:0003143	embryonic heart tube morphogenesis
GO:0003183	mitral valve morphogenesis
GO:0003289	atrial septum primum morphogenesis
GO:0006468	protein phosphorylation
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0007281	germ cell development
GO:0007368	determination of left/right symmetry
GO:0007369	gastrulation
GO:0007498	mesoderm development
GO:0007507	heart development
GO:0009968	negative regulation of signal transduction
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0018107	peptidyl-threonine phosphorylation
GO:0023014	signal transduction by phosphorylation
GO:0030278	regulation of ossification
GO:0030501	positive regulation of bone mineralization
GO:0030509	BMP signaling pathway
GO:0032924	activin receptor signaling pathway
GO:0032926	negative regulation of activin receptor signaling pathway
GO:0045669	positive regulation of osteoblast differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048641	regulation of skeletal muscle tissue development
GO:0051145	smooth muscle cell differentiation
GO:0060037	pharyngeal system development
GO:0060389	pathway-restricted SMAD protein phosphorylation
GO:0060923	cardiac muscle cell fate commitment
GO:0061445	endocardial cushion cell fate commitment
GO:0071385	cellular response to glucocorticoid stimulus
GO:2000017	positive regulation of determination of dorsal identity
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway

Cellular Component

GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0045177	apical part of cell
GO:0048179	activin receptor complex

Protein Structure and Domains

PDB ID

InterPro

IPR000333 Ser/Thr protein kinase, TGFB receptor
IPR000472 TGF-beta receptor/activin receptor, type I/II
IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR003605 TGF beta receptor, GS motif
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM

PF01064
PF00069
PF07714
PF08515

PRINTS

PR00653
PR00109

PIRSF

SMART

SM00220
SM00467
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt