The bone morphogenetic protein receptor, type IA also known as BMPR1A is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

which in humans is encoded by the ''BMPR1A''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

. BMPR1A has also been designated as CD292 (

cluster of differentiation The cluster of differentiation (also known as cluster of designation or classification determinant and often abbreviated as CD) is a protocol used for the identification and investigation of cell surface molecules providing targets for immunophe ...

292).

Function

The bone morphogenetic protein (BMP) receptors are a family of transmembrane

serine/threonine kinase A serine/threonine protein kinase () is a kinase enzyme, in particular a protein kinase, that phosphorylates the OH group of the amino-acid residues serine or threonine, which have similar side chains. At least 350 of the 500+ human prote ...

s that include the type I receptors BMPR1A (this protein) and

BMPR1B Bone morphogenetic protein receptor type-1B also known as CDw293 (cluster of differentiation w293) is a protein that in humans is encoded by the ''BMPR1B'' gene. Function BMPR1B is a member of the bone morphogenetic protein (BMP) receptor fa ...

and the type II receptor

BMPR2 Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase encoded by the ''BMPR2'' gene. It binds bone morphogenetic proteins, members of the TGF beta superfamily of ligands, which are involved in paracrine signa ...

. These receptors are also closely related to the activin receptors,

ACVR1 Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ''ACVR1'' gene; it is also known as ALK-2 (activin receptor-like kinase-2). ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in ...

and ACVR2. The ligands of these receptors are members of the

TGF beta Transforming growth factor beta (TGF-β) is a multifunctional cytokine belonging to the Transforming growth factor beta family, transforming growth factor superfamily that includes three different mammalian isoforms (TGF-β 1 to 3, HUGO Gene Nomen ...

superfamily. TGF-betas and activins transduce their signals through the formation of heterodimeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. BMP's repress

WNT signaling In cellular biology, the Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. The name Wnt, pronounced "wint", is a portmanteau created from the ...

to maintain stable stem cell populations. BMPR1A null mice died at embryonic day 8.0 without

mesoderm The mesoderm is the middle layer of the three germ layers that develops during gastrulation in the very early development of the embryo of most animals. The outer layer is the ectoderm, and the inner layer is the endoderm.Langman's Medical ...

specification, demonstrating its vital role in

gastrulation Gastrulation is the stage in the early embryonic development of most animals, during which the blastula (a single-layered hollow sphere of cells), or in mammals, the blastocyst, is reorganized into a two-layered or three-layered embryo known as ...

. It has been demonstrated in experiments using dominant negative BMPR1A chick embryos that BMPR1A plays a role in

apoptosis Apoptosis (from ) is a form of programmed cell death that occurs in multicellular organisms and in some eukaryotic, single-celled microorganisms such as yeast. Biochemistry, Biochemical events lead to characteristic cell changes (Morphology (biol ...

and

adipocyte Adipocytes, also known as lipocytes and fat cells, are the cell (biology), cells that primarily compose adipose tissue, specialized in storing energy as fat. Adipocytes are derived from mesenchymal stem cells which give rise to adipocytes through ...

development. Using constitutively active forms of BMPR1A, it has been shown that BMPR1A plays a role in

cell differentiation Cellular differentiation is the process in which a stem cell changes from one type to a differentiated one. Usually, the cell changes to a more specialized type. Differentiation happens multiple times during the development of a multicellular ...

. Signals transduced by the BMPR1A receptor are not essential for

osteoblast Osteoblasts (from the Greek combining forms for " bone", ὀστέο-, ''osteo-'' and βλαστάνω, ''blastanō'' "germinate") are cells with a single nucleus that synthesize bone. However, in the process of bone formation, osteoblasts fu ...

formation or proliferation; however, BMPR1A is necessary for the

extracellular matrix In biology, the extracellular matrix (ECM), also called intercellular matrix (ICM), is a network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide structural and bio ...

deposition by osteoblasts. In the chick embryo, BMPR1A receptors are found in low levels in limb bud

mesenchyme Mesenchyme () is a type of loosely organized animal embryonic connective tissue of undifferentiated cells that give rise to most tissues, such as skin, blood, or bone. The interactions between mesenchyme and epithelium help to form nearly ever ...

, a differing location to BMPR1B, supporting the differing roles they play in osteogenesis.

Ligands

Agonist An agonist is a chemical that activates a Receptor (biochemistry), receptor to produce a biological response. Receptors are Cell (biology), cellular proteins whose activation causes the cell to modify what it is currently doing. In contrast, an R ...

s: BMP2,

BMP4 Bone morphogenetic protein 4 is a protein that in humans is encoded by ''BMP4'' gene. BMP4 is found on chromosome 14q22-q23. BMP4 is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfami ...

BMP6 Bone morphogenetic protein 6 is a protein that in humans is encoded by the ''BMP6'' gene. The protein encoded by this gene is a member of the TGFβ superfamily. Bone morphogenetic proteins are known for their ability to induce the growth of bone ...

BMP7 Bone morphogenetic protein 7 or BMP7 (also known as osteogenic protein-1 or OP-1) is a protein that in humans is encoded by the ''BMP7'' gene. Function The protein encoded by this gene is a member of the TGF-β superfamily. Like other members ...

GDF6 Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the ''GDF6'' gene. Function GDF6 belongs to the transforming growth factor beta superfamily and may regulate patterning of the ectoderm by interacting with bone m ...

Antagonists An antagonist is a character in a story who is presented as the main enemy or rival of the protagonist and is often depicted as a villain.Noggin,

Chordin Chordin (from Greek χορδή, string, catgut) is a protein with a prominent role in dorsal–ventral patterning during early embryonic development. In humans it is encoded for by the ''CHRD'' gene. History Chordin was originally identified ...

Diseases

BMPR1A,

SMAD4 SMAD4, also called SMAD family member 4, Mothers against decapentaplegic homolog 4, or DPC4 (Deleted in Pancreatic Cancer-4) is a highly conserved protein present in all metazoans. It belongs to the SMAD family of transcription factor proteins ...

and PTEN are responsible for

juvenile polyposis syndrome Juvenile polyposis syndrome is an autosomal dominant genetic condition characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract. Polyps are abnormal growths arising from a mucous membrane. These usually begin appea ...

juvenile intestinal polyposis Juvenile may refer to: In general *Juvenile status, or minor (law), prior to adulthood *Juvenile (organism) Music *Juvenile (rapper) (born 1975), stage name of American rapper Terius Gray *''Juveniles'', a 2020 studio album by the band Kingswoo ...

and Cowden's disease.

Interactions

BMPR1A has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...

with: * BMP2, *

SF3B4 Splicing factor 3B subunit 4 is a protein that in humans is encoded by the ''SF3B4'' gene. Function This gene encodes one of four subunits of the splicing factor 3b. The protein encoded by this gene cross-links to a region in the pre-mRNA imm ...

, and * ZMYND11.

References

External links