ACVR1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0060037Biological processpharyngeal system development
GO_0032924Biological processactivin receptor signaling pathway
GO_0003148Biological processoutflow tract septum morphogenesis
GO_0071773Biological processcellular response to BMP stimulus
GO_0001701Biological processin utero embryonic development
GO_0003272Biological processendocardial cushion formation
GO_0001755Biological processneural crest cell migration
GO_0003274Biological processendocardial cushion fusion
GO_0007507Biological processheart development
GO_0009968Biological processnegative regulation of signal transduction
GO_0007368Biological processdetermination of left/right symmetry
GO_0003183Biological processmitral valve morphogenesis
GO_0003181Biological processatrioventricular valve morphogenesis
GO_0060391Biological processpositive regulation of SMAD protein signal transduction
GO_0002526Biological processacute inflammatory response
GO_0071363Biological processcellular response to growth factor stimulus
GO_0032926Biological processnegative regulation of activin receptor signaling pathway
GO_0045669Biological processpositive regulation of osteoblast differentiation
GO_0060923Biological processcardiac muscle cell fate commitment
GO_0009953Biological processdorsal/ventral pattern formation
GO_0030509Biological processBMP signaling pathway
GO_0001569Biological processbranching involved in blood vessel morphogenesis
GO_0062043Biological processpositive regulation of cardiac epithelial to mesenchymal transition
GO_0050731Biological processpositive regulation of peptidyl-tyrosine phosphorylation
GO_0045893Biological processpositive regulation of DNA-templated transcription
GO_0001707Biological processmesoderm formation
GO_0030335Biological processpositive regulation of cell migration
GO_0007281Biological processgerm cell development
GO_0051145Biological processsmooth muscle cell differentiation
GO_0060412Biological processventricular septum morphogenesis
GO_2001237Biological processnegative regulation of extrinsic apoptotic signaling pathway
GO_2000134Biological processnegative regulation of G1/S transition of mitotic cell cycle
GO_0003289Biological processatrial septum primum morphogenesis
GO_2000017Biological processpositive regulation of determination of dorsal identity
GO_0006468Biological processprotein phosphorylation
GO_0030278Biological processregulation of ossification
GO_0007179Biological processtransforming growth factor beta receptor signaling pathway
GO_0030501Biological processpositive regulation of bone mineralization
GO_0061445Biological processendocardial cushion cell fate commitment
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0001702Biological processgastrulation with mouth forming second
GO_0003143Biological processembryonic heart tube morphogenesis
GO_0005886Cellular componentplasma membrane
GO_0070724Cellular componentBMP receptor complex
GO_0048179Cellular componentactivin receptor complex
GO_0045177Cellular componentapical part of cell
GO_0042803Molecular functionprotein homodimerization activity
GO_0045296Molecular functioncadherin binding
GO_0017046Molecular functionpeptide hormone binding
GO_0098821Molecular functionBMP receptor activity
GO_0046332Molecular functionSMAD binding
GO_0004674Molecular functionprotein serine/threonine kinase activity
GO_0048185Molecular functionactivin binding
GO_1990782Molecular functionprotein tyrosine kinase binding
GO_0004672Molecular functionprotein kinase activity
GO_0050431Molecular functiontransforming growth factor beta binding
GO_0004675Molecular functiontransmembrane receptor protein serine/threonine kinase activity
GO_0046872Molecular functionmetal ion binding
GO_0005524Molecular functionATP binding
GO_0005025Molecular functiontransforming growth factor beta receptor activity, type I
GO_0005515Molecular functionprotein binding
GO_0016361Molecular functionactivin receptor activity, type I

IV. Literature review

[source]
Gene nameACVR1
Protein namereceptor protein serine/threonine kinase (EC 2.7.11.30)
Activin receptor type-1 (EC 2.7.11.30) (Activin receptor type I) (ACTR-I) (Activin receptor-like kinase 2) (ALK-2) (Serine/threonine-protein kinase receptor R1) (SKR1) (TGF-B superfamily receptor type I) (TSR-I)
Activin receptor type-1 (EC 2.7.11.30) (Activin receptor type I)
Serine/threonine-protein kinase receptor (EC 2.7.11.30)
Activin A receptor type 1
Alternative protein ACVR1
SynonymshCG_1811747
ACVRLK2
DescriptionFUNCTION: Bone morphogenetic protein (BMP) type I receptor that is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation . As a type I receptor, forms heterotetrameric receptor complexes with the type II receptors AMHR2, ACVR2A or ACVR2B . Upon binding of ligands such as BMP7 or GDF2/BMP9 to the heteromeric complexes, type II receptors transphosphorylate ACVR1 intracellular domain . In turn, ACVR1 kinase domain is activated and subsequently phosphorylates SMAD1/5/8 proteins that transduce the signal . In addition to its role in mediating BMP pathway-specific signaling, suppresses TGFbeta/activin pathway signaling by interfering with the binding of activin to its type II receptor . Besides canonical SMAD signaling, can activate non-canonical pathways such as p38 mitogen-activated protein kinases/MAPKs (By similarity). May promote the expression of HAMP, potentially via its interaction with BMP6 (By similarity). .

AccessionsENST00000410057.6
A0A804HHZ2
ENST00000672582.1
ENST00000684348.1
ENST00000683487.1
ENST00000683426.1
ENST00000682300.1
C9JHJ7
ENST00000263640.7
ENST00000440523.5
ENST00000682025.1
A0A0S2Z2Y3
A0A1B0GXA9
C9JW28
D3DPA4
ENST00000683404.1
A0A804HJQ0
ENST00000412025.5
ENST00000413751.1
ENST00000683441.1
Q04771
ENST00000539637.6
ENST00000434821.7
ENST00000673324.1
ENST00000683820.1
Q53SV1
Q53SF4
ENST00000409283.6
ENST00000424669.6
L8E7H6
A0A0S2Z345
ENST00000684595.1