BMPR1A
Encyclopedia
The bone morphogenetic protein receptor, type IA also known as BMPR1A is a protein
which in humans is encoded by the BMPR1A gene
. BMPR1A has also been designated as CD292 (cluster of differentiation
290).
s that include the type I receptors BMPR1A (this protein) and BMPR1B
and the type II receptor BMPR2
. These receptors are also closely related to the activin receptors, ACVR1
and ACVR2
. The ligands of these receptors are members of the TGF beta
superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric 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
to maintain stable stem cell populations. BMPR1A null mice died at embyonic day 8.0 without mesoderm
specification, demonstrating its vital role in gastrulation
. It has been demonstrated in experiments using dominant negative BMPR1A chick embryos that BMPR1A plays a role in apoptosis
and adipocyte
development. Using constitutively active forms of BMR1A it has been shown that it plays a role in cell differentiation. Signals tranduced by the BMPR1A receptor are not essential for osteoblast
formation or proliferation; however, BMPR1A is necessary for the extracellular matrix
depostition by osteoblasts. In the chick embryo, BMPR1A receptors are found in low levels in limb bud mesenchyme, a differing location to BMPR1B, supporting the differing roles they play in osteogenesis.
are responsible for Juvenile polyposis syndrome
, juvenile intestinal polyposis and Cowden's disease.
with SF3B4
, ZMYND11
and Bone morphogenetic protein 2
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the BMPR1A gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. BMPR1A has also been designated as CD292 (cluster of differentiation
Cluster of differentiation
The cluster of differentiation is a protocol used for the identification and investigation of cell surface molecules present on white blood cells, providing targets for immunophenotyping of cells...
290).
Function
The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinaseSerine/threonine-specific protein kinase
Serine/threonine protein kinases phosphorylate the OH group of serine or threonine .At least 125 of the 500+ human protein kinases are serine/threonine kinases .-Regulation:...
s that include the type I receptors BMPR1A (this protein) and BMPR1B
BMPR1B
Bone morphogenetic protein receptor type-1B also known as CDw293 is a protein that in humans is encoded by the BMPR1B gene.- Function :...
and the type II receptor BMPR2
BMPR2
Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase. It binds Bone morphogenetic proteins, members of the TGF beta superfamily of ligands. BMPs are involved in a host of cellular functions including osteogenesis, cell growth and cell differentiation. Signaling...
. These receptors are also closely related to the activin receptors, ACVR1
ACVR1
Activin A receptor, type I also known as ALK-2 is a protein which in humans is encoded by the ACVR1 gene.- Function :...
and ACVR2
Activin type 2 receptors
The Activin type 2 receptors modulate signals for ligands belonging to the Transforming growth factor beta superfamily of ligands. These include: Activin , Bone morphogenetic proteins and Nodal. They are involved in a host of physiological processes including, growth, cell differentiation,...
. The ligands of these receptors are members of the TGF beta
TGF beta
Transforming growth factor beta is a protein that controls proliferation, cellular differentiation, and other functions in most cells. It plays a role in immunity, cancer, heart disease, diabetes, Marfan syndrome, and Loeys–Dietz syndrome....
superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric 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
Wnt signaling pathway
The Wnt signaling pathway is a network of proteins best known for their roles in embryogenesis and cancer, but also involved in normal physiological processes in adult animals.-Discovery:...
to maintain stable stem cell populations. BMPR1A null mice died at embyonic day 8.0 without mesoderm
Mesoderm
In all bilaterian animals, the mesoderm is one of the three primary germ cell layers in the very early embryo. The other two layers are the ectoderm and endoderm , with the mesoderm as the middle layer between them.The mesoderm forms mesenchyme , mesothelium, non-epithelial blood corpuscles and...
specification, demonstrating its vital role in gastrulation
Gastrulation
Gastrulation is a phase early in the embryonic development of most animals, during which the single-layered blastula is reorganized into a trilaminar structure known as the gastrula. These three germ layers are known as the ectoderm, mesoderm, and endoderm.Gastrulation takes place after cleavage...
. It has been demonstrated in experiments using dominant negative BMPR1A chick embryos that BMPR1A plays a role in apoptosis
Apoptosis
Apoptosis is the process of programmed cell death that may occur in multicellular organisms. Biochemical events lead to characteristic cell changes and death. These changes include blebbing, cell shrinkage, nuclear fragmentation, chromatin condensation, and chromosomal DNA fragmentation...
and adipocyte
Adipocyte
However, in some reports and textbooks, the number of fat cell increased in childhood and adolescence. The total number is constant in both obese and lean adult...
development. Using constitutively active forms of BMR1A it has been shown that it plays a role in cell differentiation. Signals tranduced by the BMPR1A receptor are not essential for osteoblast
Osteoblast
Osteoblasts are mononucleate cells that are responsible for bone formation; in essence, osteoblasts are specialized fibroblasts that in addition to fibroblastic products, express bone sialoprotein and osteocalcin.Osteoblasts produce a matrix of osteoid, which is composed mainly of Type I collagen...
formation or proliferation; however, BMPR1A is necessary for the extracellular matrix
Extracellular matrix
In biology, the extracellular matrix is the extracellular part of animal tissue that usually provides structural support to the animal cells in addition to performing various other important functions. The extracellular matrix is the defining feature of connective tissue in animals.Extracellular...
depostition by osteoblasts. In the chick embryo, BMPR1A receptors are found in low levels in limb bud mesenchyme, a differing location to BMPR1B, supporting the differing roles they play in osteogenesis.
Ligands
- AgonistAgonistAn agonist is a chemical that binds to a receptor of a cell and triggers a response by that cell. Agonists often mimic the action of a naturally occurring substance...
s: BMP2Bone morphogenetic protein 2Bone morphogenetic protein 2 or BMP-2 belongs to the TGF-β superfamily of proteins.-Function:BMP-2 like other bone morphogenetic proteins, plays an important role in the development of bone and cartilage. It is involved in the hedgehog pathway, TGF beta signaling pathway, and in cytokine-cytokine...
, BMP4Bone morphogenetic protein 4Bone morphogenetic protein 4 is a protein that in humans is encoded by` BMP4 gene.BMP4 is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily...
, BMP6Bone morphogenetic protein 6Bone 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 and cartilage...
, BMP7Bone morphogenetic protein 7Bone morphogenetic protein 7 or BMP7 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...
, GDF6GDF6Growth differentiation factor 6 is a protein that in humans is encoded by the GDF6 gene.belonging to the transforming growth factor beta superfamily that may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins, and control eye development.... - AntagonistsReceptor antagonistA receptor antagonist is a type of receptor ligand or drug that does not provoke a biological response itself upon binding to a receptor, but blocks or dampens agonist-mediated responses...
: NogginNoggin (protein)Noggin, also known as NOG, is a protein which in humans is encoded by the NOG gene.Noggin inhibits TGF-β signal transduction by binding to TGF-β family ligands and preventing them from binding to their corresponding receptors. Noggin plays a key role in neural induction by inhibiting BMP4, along...
, ChordinChordinChordin is a polypeptide that dorsalizes the developing embryo by binding ventralizing TGFβ proteins such as bone morphogenetic proteins. It may also play a role in organogenesis. There are five named isoforms of this protein that are produced by alternative splicing.In humans, the chordin peptide...
Diseases
BMPR1A, SMAD4 and PTENPTEN
PTEN may mean:* Patterson-UTI Energy, Inc., which trades on the NASDAQ stock market under the symbol 'PTEN'* Prime Time Entertainment Network* PTEN , a human tumour suppressor gene on chromosome 10...
are responsible for Juvenile polyposis syndrome
Juvenile polyposis syndrome
Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple polyps in the gastrointestinal tract, usually in a child, adolescent or young adult. Polyps refers to a growth arising from the lumen of the colon or stomach...
, juvenile intestinal polyposis and Cowden's disease.
Interactions
BMPR1A has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with SF3B4
SF3B4
Splicing factor 3B subunit 4 is a protein that in humans is encoded by the SF3B4 gene.-Interactions:SF3B4 has been shown to interact with CDC5L, BMPR1A and SF3B2.-Further reading:...
, ZMYND11
ZMYND11
Zinc finger MYND domain-containing protein 11 is a protein that in humans is encoded by the ZMYND11 gene.-Interactions:ZMYND11 has been shown to interact with ETS2, BMPR1A, MAP3K7IP1 and C11orf30.-Further reading:...
and Bone morphogenetic protein 2
Bone morphogenetic protein 2
Bone morphogenetic protein 2 or BMP-2 belongs to the TGF-β superfamily of proteins.-Function:BMP-2 like other bone morphogenetic proteins, plays an important role in the development of bone and cartilage. It is involved in the hedgehog pathway, TGF beta signaling pathway, and in cytokine-cytokine...
.