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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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
which in humans is encoded by the ''BMPR1A''
gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
. 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 immunophen ...
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 In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gen ...
and the type II receptor BMPR2. 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; 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 the bo ...
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 superfamily that includes three different mammalian isoforms (TGF-β 1 to 3, HGNC symbols TGFB1, TGFB2, TGFB3) and many other sign ...
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 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 is a portmanteau created from the names Wingless and Int-1. Wnt signaling ...
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 E ...
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 multilayered structure known as the gastrula. Be ...
. It has been demonstrated in experiments using dominant negative BMPR1A chick embryos that BMPR1A plays a role in
apoptosis Apoptosis (from grc, ἀπόπτωσις, apóptōsis, 'falling off') is a form of programmed cell death that occurs in multicellular organisms. Biochemical events lead to characteristic cell changes (morphology) and death. These changes incl ...
and
adipocyte Adipocytes, also known as lipocytes and fat cells, are the 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 adipogenesis. I ...
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 alters 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 multicellula ...
. Signals transduced by the BMPR1A receptor are not essential for
osteoblast Osteoblasts (from the Greek language, Greek combining forms for "bone", ὀστέο-, ''osteo-'' and βλαστάνω, ''blastanō'' "germinate") are cell (biology), cells with a single Cell nucleus, nucleus that synthesize bone. However, in the p ...
formation or proliferation; however, BMPR1A is necessary for the
extracellular matrix In biology, the extracellular matrix (ECM), also called intercellular matrix, is a three-dimensional network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide stru ...
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 every o ...
, a differing location to BMPR1B, supporting the differing roles they play in osteogenesis.


Ligands

*
Agonist An agonist is a chemical that activates a receptor to produce a biological response. Receptors are cellular proteins whose activation causes the cell to modify what it is currently doing. In contrast, an antagonist blocks the action of the ago ...
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 superfamil ...
,
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 o ...
,
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 chief foe of the protagonist. Etymology The English word antagonist comes from the Greek ἀνταγωνιστής – ''antagonistēs'', "opponent, competitor, villain, enemy, riv ...
:
Noggin Noggin may refer to: General * Noggin or gill (volume), a unit of volume * Noggin (cup), a small cup * Noggin, slang for head A head is the part of an organism which usually includes the ears, brain, forehead, cheeks, chin, eyes, nose, an ...
, Chordin


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 appe ...
,
juvenile intestinal polyposis Juvenile may refer to: *Juvenile status, or minor (law), prior to adulthood *Juvenile (organism) *Juvenile (rapper) (born 1975), American rapper * ''Juvenile'' (2000 film), Japanese film * ''Juvenile'' (2017 film) *Juvenile (greyhounds), a greyho ...
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 using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
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 imme ...
, and *
ZMYND11 Zinc finger MYND domain-containing protein 11 is a protein that in humans is encoded by the ''ZMYND11'' gene. Function The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localiz ...
.


References


Further reading

* * * * * * * * * * * * * * * *


External links


GeneReviews/NCBI/NIH/UW entry on Juvenile Polyposis Syndrome
* * {{Portal bar, Biology, border=no Clusters of differentiation Transmembrane receptors S/T domain GS domain Bone morphogenetic protein EC 2.7.11