ACVR1

Activin A receptor, type I

Rendering based on PDB 3H9R.

Available structures
PDB	3H9R, 3MTF, 3OOM

Identifiers

Symbols

ACVR1; ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1; TSRI

External IDs

OMIM: 102576 MGI: 87911 HomoloGene: 7 GeneCards: ACVR1 Gene

EC number

2.7.11.30

Gene Ontology
Molecular function	• nucleotide binding • protein serine/threonine kinase activity • transmembrane receptor protein serine/threonine kinase activity • receptor signaling protein serine/threonine kinase activity • receptor activity • transforming growth factor beta receptor activity, type I • protein binding • ATP binding • activin receptor activity, type I • protein homodimerization activity • SMAD binding • metal ion binding • follistatin binding • activin binding • transforming growth factor beta binding
Cellular component	• integral to plasma membrane • membrane • apical part of cell • activin receptor complex
Biological process	• G1/S transition of mitotic cell cycle • patterning of blood vessels • urogenital system development • in utero embryonic development • gastrulation with mouth forming second • mesoderm formation • neural crest cell migration • acute inflammatory response • protein phosphorylation • transforming growth factor beta receptor signaling pathway • germ cell development • determination of left/right symmetry • mesoderm development • heart development • embryo development • negative regulation of signal transduction • regulation of ossification • positive regulation of bone mineralization • BMP signaling pathway • negative regulation of activin receptor signaling pathway • negative regulation of apoptosis • positive regulation of osteoblast differentiation • positive regulation of transcription, DNA-dependent • regulation of skeletal muscle tissue development • smooth muscle cell differentiation • pharyngeal system development • cellular response to glucocorticoid stimulus
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 2:
158.59 – 158.73 Mb

Chr 2:
58.24 – 58.42 Mb

PubMed search

[1]

[2]

Activin A receptor, type I (ACVR1) also known as ALK-2 is a protein which in humans is encoded by the ACVR1 gene.^[1]

1 Function
2 Signaling
3 Clinical significance
4 References

Function

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors.^[2]

Signaling

ACVR1 transduces signals of BMPs. BMPs bind either ACVR2A/ACVR2B or a BMPR2 and then form a complex with ACVR1. These go on to recruit the R-SMADs SMAD1, SMAD2, SMAD3 or SMAD6.^[3]

Clinical significance

Mutations in the ACVR1 are associated with fibrodysplasia ossificans progressiva.^[4]

References

^ ten Dijke P, Ichijo H, Franzén P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K (October 1993). "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity". Oncogene 8 (10): 2879–87. PMID 8397373.
^ "Entrez Gene: ACVR1 (activin A receptor, type I)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90.
^ Inman GJ, Nicolás FJ, Callahan JF, Harling JD, Gaster LM, Reith AD, Laping NJ, Hill CS (July 2002). "SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7". Molecular pharmacology 62 (1): 65–74. doi:10.1124/mol.62.1.65. PMID 12065756.
^ Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS (May 2006). "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". Nature genetics 38 (5): 525–7. doi:10.1038/ng1783. PMID 16642017.

Cell signaling: TGF beta signaling pathway

TGF beta superfamily of ligands	TGF beta family (TGF-β1, TGF-β2, TGF-β3) Bone morphogenetic proteins (BMP2, BMP3, BMP4, BMP5, BMP6, BMP7, BMP8a, BMP8b, BMP10 , BMP15) Growth differentiation factors (GDF1, GDF2, GDF3, GDF5, GDF6, GDF7, Myostatin/GDF8, GDF9, GDF10, GDF11, GDF15) Other (Activin and inhibin, Anti-müllerian hormone, Nodal)

TGF beta receptors (Activin, BMP)	TGFBR1: Activin type 1 receptors (ACVR1, ACVR1B, ACVR1C) · ACVRL1 · BMPR1 (BMPR1A · BMPR1B) TGFBR2: Activin type 2 receptors (ACVR2A, ACVR2B) · AMHR2 · BMPR2 TGFBR3: betaglycan

Transducers/SMAD	R-SMAD (SMAD1, SMAD2, SMAD3, SMAD5, SMAD9) · I-SMAD (SMAD6, SMAD7) · SMAD4

Ligand inhibitors	Cerberus · Chordin · DAN · Decorin · Follistatin · Gremlin · Lefty · LTBP1 · Noggin · THBS1

Coreceptors	BAMBI · Cripto

Other	SARA

B trdu: iter (nrpl/grfl/cytl/horl), csrc (lgic, enzr, gprc, igsr, intg, nrpr/grfr/cytr), itra (adap, gbpr, mapk), calc, lipd; path (hedp, wntp, tgfp+mapp, notp, jakp, fsap, hipp, tlrp)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

ACVR1

Contents

Function

Signaling

Clinical significance

References