Contents

ACVR1B

Protein-coding gene in humans

ACVR1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3H9R, 3MTF, 3OOM, 3Q4U, 4BGG, 4C02, 4DYM
Identifiers
Aliases	ACVR1B, ACTRIB, ACVRLK4, ALK4, SKR2, activin A receptor type 1B
External IDs	OMIM: 601300; MGI: 1338944; HomoloGene: 20906; GeneCards: ACVR1B; OMA:ACVR1B - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.13 Start 51,951,699 bp[1] End 51,997,078 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 F1|15 56.48 cM Start 101,071,948 bp[2] End 101,111,565 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte middle temporal gyrus pancreatic ductal cell renal medulla Brodmann area 23 beta cell lateral nuclear group of thalamus parotid gland kidney tubule Brodmann area 10 Top expressed in transitional epithelium of urinary bladder epithelium of stomach hair follicle skin of external ear olfactory tubercle prefrontal cortex Paneth cell nucleus accumbens ventromedial nucleus Rostral migratory stream More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding protein kinase activity growth factor binding activin binding metal ion binding kinase activity transmembrane receptor protein serine/threonine kinase activity inhibin binding protein binding activin-activated receptor activity ATP binding ubiquitin protein ligase binding protein serine/threonine kinase activity activin receptor activity, type I SMAD binding transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I Cellular component integral component of membrane membrane receptor complex plasma membrane integral component of plasma membrane activin receptor complex cell surface cytosol Biological process hair follicle development regulation of transcription, DNA-templated positive regulation of erythrocyte differentiation extrinsic apoptotic signaling pathway phosphorylation positive regulation of pathway-restricted SMAD protein phosphorylation in utero embryonic development negative regulation of gene expression nodal signaling pathway positive regulation of trophoblast cell migration protein phosphorylation central nervous system development development of primary female sexual characteristics positive regulation of gene expression transmembrane receptor protein serine/threonine kinase signaling pathway positive regulation of activin receptor signaling pathway regulation of signal transduction negative regulation of cell growth protein autophosphorylation peptidyl-threonine phosphorylation signal transduction positive regulation of transcription by RNA polymerase II activin receptor signaling pathway G1/S transition of mitotic cell cycle transforming growth factor beta receptor signaling pathway pattern specification process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 91 11479 Ensembl ENSG00000135503 ENSMUSG00000000532 UniProt P36896 Q61271 RefSeq (mRNA) NM_004302 NM_020327 NM_020328 NM_007395 RefSeq (protein) NP_004293 NP_064732 NP_064733 NP_031421 Location (UCSC) Chr 12: 51.95 – 52 Mb Chr 15: 101.07 – 101.11 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Activin receptor type-1B is a protein that in humans is encoded by the ACVR1B gene.^[5][6]

ACVR1BorALK-4 acts as a transducer of activin or activin-like ligands (e.g., inhibin) signals. Activin binds to either ACVR2AorACVR2B and then forms a complex with ACVR1B. These go on to recruit the R-SMADs SMAD2orSMAD3.^[7] ACVR1B also transduces signals of nodal, GDF-1, and Vg1; however, unlike activin, they require other coreceptor molecules such as the protein Cripto.^[8]

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 a 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 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 IB receptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed.^[6]

ACVR1B has been shown to interact with

• ACVR2A,^[9][10] and ACVR2B^[11][9]

• Human ACVR1B genome location and ACVR1B gene details page in the UCSC Genome Browser.