BMPR1B

Last updated
BMPR1B
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases BMPR1B , ALK-6, ALK6, CDw293, AMDD, BDA1D, BDA2, bone morphogenetic protein receptor type 1B, AMD3
External IDs OMIM: 603248 MGI: 107191 HomoloGene: 20322 GeneCards: BMPR1B
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001203
NM_001256792
NM_001256793
NM_001256794

RefSeq (protein)

NP_001194
NP_001243721
NP_001243722
NP_001243723

Location (UCSC) Chr 4: 94.76 – 95.16 Mb Chr 3: 141.54 – 141.88 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. [5] [6]

Contents

Function

BMPR1B is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 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. [7]

The BMPR1B receptor plays a role in the formation of middle and proximal phalanges. [8]

Clinical significance

Mutations in this gene have been associated with primary pulmonary hypertension. [7]

In the chick embryo, it has been shown that BMPR1B is found in precartilaginous condensations. [9] BMPR1B is the major transducer of signals in these condensations as demonstrated in experiments using constitutively active BMPR1B receptors. [9] BMPR1B is a more effective transducer of GDF5 than BMPR1A. [9] Unlike BMPR1A null mice, which die at an early embryonic stage, BMPR1B null mice are viable. [9]

Related Research Articles

<span class="mw-page-title-main">Bone morphogenetic protein 2</span> Protein-coding gene in the species Homo sapiens

Bone morphogenetic protein 2 or BMP-2 belongs to the TGF-β superfamily of proteins.

<span class="mw-page-title-main">Bone morphogenetic protein 4</span> Human protein and coding gene

Bone morphogenetic protein 4 is a protein that in humans is encoded by BMP4 gene. BMP4 is found on chromosome 14q22-q23.

<span class="mw-page-title-main">Mothers against decapentaplegic homolog 1</span> Protein-coding gene in the species Homo sapiens

Mothers against decapentaplegic homolog 1 also known as SMAD family member 1 or SMAD1 is a protein that in humans is encoded by the SMAD1 gene.

<span class="mw-page-title-main">Mothers against decapentaplegic homolog 5</span> Protein-coding gene in the species Homo sapiens

Mothers against decapentaplegic homolog 5 also known as SMAD5 is a protein that in humans is encoded by the SMAD5 gene.

<span class="mw-page-title-main">Mothers against decapentaplegic homolog 9</span> Protein-coding gene in the species Homo sapiens

Mothers against decapentaplegic homolog 9 also known as SMAD9, SMAD8, and MADH6 is a protein that in humans is encoded by the SMAD9 gene.

The transforming growth factor beta (TGFB) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiation, cell migration, apoptosis, cellular homeostasis and other cellular functions. The TGFB signaling pathways are conserved. In spite of the wide range of cellular processes that the TGFβ signaling pathway regulates, the process is relatively simple. TGFβ superfamily ligands bind to a type II receptor, which recruits and phosphorylates a type I receptor. The type I receptor then phosphorylates receptor-regulated SMADs (R-SMADs) which can now bind the coSMAD SMAD4. R-SMAD/coSMAD complexes accumulate in the nucleus where they act as transcription factors and participate in the regulation of target gene expression.

<span class="mw-page-title-main">BMPR2</span> Protein-coding gene in the species Homo sapiens

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 signaling. BMPs are involved in a host of cellular functions including osteogenesis, cell growth and cell differentiation. Signaling in the BMP pathway begins with the binding of a BMP to the type II receptor. This causes the recruitment of a BMP type I receptor, which the type II receptor phosphorylates. The type I receptor phosphorylates an R-SMAD, a transcriptional regulator.

Bone morphogenetic protein type I receptors are single pass, type I transmembrane proteins. They belong to a class of receptor serine/threonine kinases that bind members of the TGF beta superfamily of ligands—the bone morphogenetic proteins.

<span class="mw-page-title-main">BMPR1A</span> Bone morphogenetic protein receptor

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.

<span class="mw-page-title-main">ACVR1B</span> Protein-coding gene in humans

Activin receptor type-1B is a protein that in humans is encoded by the ACVR1B gene.

<span class="mw-page-title-main">ACVR1</span> Protein-coding gene

Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2. ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in the bone morphogenic protein (BMP) pathway which is responsible for the development and repair of the skeletal system. While knock-out models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, an extremely rare progressive genetic disease characterized by heterotopic ossification of muscles, tendons and ligaments. It is a bone morphogenetic protein receptor, type 1.

<span class="mw-page-title-main">ACVR2A</span> Protein-coding gene in the species Homo sapiens

Activin receptor type-2A is a protein that in humans is encoded by the ACVR2A gene. ACVR2A is an activin type 2 receptor.

Bone morphogenetic protein receptors are serine-threonine kinase receptors. Transforming growth factor beta family proteins bind to these receptors. There are four bone morphogenetic protein receptors:

<span class="mw-page-title-main">Endoglin</span> Protein-coding gene in the species Homo sapiens

Endoglin (ENG) is a type I membrane glycoprotein located on cell surfaces and is part of the TGF beta receptor complex. It is also commonly referred to as CD105, END, FLJ41744, HHT1, ORW and ORW1. It has a crucial role in angiogenesis, therefore, making it an important protein for tumor growth, survival and metastasis of cancer cells to other locations in the body.

<span class="mw-page-title-main">TGF beta receptor 1</span> Protein-coding gene in the species Homo sapiens

Transforming growth factor beta receptor I is a membrane-bound TGF beta receptor protein of the TGF-beta receptor family for the TGF beta superfamily of signaling ligands. TGFBR1 is its human gene.

<span class="mw-page-title-main">GDF2</span> Protein-coding gene in the species Homo sapiens

Growth differentiation factor 2 (GDF2) also known as bone morphogenetic protein (BMP)-9 is a protein that in humans is encoded by the GDF2 gene. GDF2 belongs to the transforming growth factor beta superfamily.

<span class="mw-page-title-main">GDF5</span> Protein-coding gene in the species Homo sapiens

Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.

<span class="mw-page-title-main">BMP2K</span> Protein-coding gene in the species Homo sapiens

BMP-2-inducible protein kinase is an enzyme in humans encoded by the BMP2K gene.

<span class="mw-page-title-main">Repulsive guidance molecule A</span> Protein-coding gene in the species Homo sapiens

Repulsive guidance molecule A (RGMa) is a bone morphogenetic protein (BMP) co-receptor of the repulsive guidance molecule family. Together with BMPR1A and BMPR1B, as well as ACVR2A and BMPR2, it binds BMPs thereby activating the intracellular SMAD1/5/8 signalling pathway. In humans this protein is encoded by the RGMA gene.

The transforming growth factor beta (TGFβ) receptors are a family of serine/threonine kinase receptors involved in TGF beta signaling pathway. These receptors bind growth factor and cytokine signaling proteins in the TGF-beta family such as TGFβs, bone morphogenetic proteins (BMPs), growth differentiation factors (GDFs), activin and inhibin, myostatin, anti-Müllerian hormone (AMH), and NODAL.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000138696 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000052430 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ten Dijke P, Yamashita H, Ichijo H, Franzén P, Laiho M, Miyazono K, Heldin CH (April 1994). "Characterization of type I receptors for transforming growth factor-beta and activin". Science. 264 (5155): 101–4. Bibcode:1994Sci...264..101T. doi:10.1126/science.8140412. PMID   8140412.
  6. Ide H, Saito-Ohara F, Ohnami S, Osada Y, Ikeuchi T, Yoshida T, Terada M (1998). "Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23→q24 byin situ hybridization and radiation hybrid map ping". Cytogenet. Cell Genet. 81 (3–4): 285–6. doi:10.1159/000015048. PMID   9730621. S2CID   46751090.
  7. 1 2 "Entrez Gene: bone morphogenetic protein receptor".
  8. Mishina Y, Starbuck MW, Gentile MA, Fukuda T, Kasparcova V, Seedor JG, Hanks MC, Amling M, Pinero GJ, Harada S, Behringer RR (2004). "Bone morphogenetic protein type IA receptor signaling regulates postnatal osteoblast function and bone remodeling". J. Biol. Chem. 279 (26): 27560–6. doi: 10.1074/jbc.M404222200 . PMID   15090551.
  9. 1 2 3 4 Yoon BS, Ovchinnikov DA, Yoshii I, Mishina Y, Behringer RR, Lyons KM (2005). "Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo". Proc. Natl. Acad. Sci. U.S.A. 102 (14): 5062–7. Bibcode:2005PNAS..102.5062Y. doi: 10.1073/pnas.0500031102 . PMC   555995 . PMID   15781876.

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