BMPR1A bone morphogenetic protein receptor, type IA [Homo sapiens (human)] - Gene

Summary

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Official Symbol: BMPR1Aprovided by HGNC
Official Full Name: bone morphogenetic protein receptor, type IAprovided by HGNC
Primary source: HGNC:1076
See related: Ensembl:ENSG00000107779; HPRD:03192; MIM:601299; Vega:OTTHUMG00000018657
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALK3; SKR5; CD292; ACVRLK3; 10q23del
Summary: The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A 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. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 10q22.3

Sequence :: Chromosome: 10; NC_000010.10 (88516396..88684945)

See BMPR1A in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

These data support the role of BMPR-1A as an indicator ofosteoarthritis progression in human knees with circumscribed cartilage lesions.
Title: Expression of BMP-receptor type 1A correlates with progress of osteoarthritis in human knee joints with focal cartilage lesions.
Crystals of GDF5 and BMP receptor IA complex belonged to a monoclinic space group: either I2, with unit-cell parameters a = 63.81, b = 62.85, c = 124.99 A, beta = 95.9 degrees , or C2, with unit-cell parameters a = 132.17, b = 62.78, c = 63.53 A, beta = 112.8 degrees
Title: Purification, crystallization and preliminary data analysis of the ligand-receptor complex of the growth and differentiation factor 5 variant R57A (GDF5R57A) and BMP receptor IA (BRIA).
generation of TGF-beta and BMP receptor homo- and hetero-oligomers and its roles as a mechanism capable of fast regulation of signaling by these crucial cytokines [review]
Title: Oligomeric interactions of TGF-β and BMP receptors.
analysis of promiscuity and specificity in BMP receptor activation [review]
Title: Promiscuity and specificity in BMP receptor activation.
Results suggest that BMPRIA expression identifies thymic NK cell precursors and that BMP signaling is relevant for NK cell differentiation in the thymus.
Title: Expression of BMPRIA on human thymic NK cell precursors: role of BMP signaling in intrathymic NK cell development.
Sp1 was found to be a candidate factor that likely plays a role in the transcriptional regulation of BMPR1A.
Title: SP1 regulates the transcription of BMPR1A.
Disruption of BMPR1A-mediated BMP1 signalling during the narrow window of early embryogenesis may interfere with normal VBW formation, causing omphalocele phenotype in the Cd chick model.
Title: BMPR1A-mediated BMP1 signalling is disrupted in the cadmium-induced omphalocele in the chick model.
Letter: Report the phenotypic spectrum of BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.
Title: BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.
Data show that blocking both endogenous BMPR1A and BMPR1B almost offset the effect of BMP7 on the proliferation of NCI-H460 cell completely.
Title: [BMP7 signaling via BMPR1A, BMPR1B inhibits the proliferation of lung large carcinoma NCI-H460 cell].
Juvenile polyps with a SMAD4 germline mutation were predominantly type B, whereas type A was more common among juvenile polyps with a BMPR1A germline mutation.
Title: Histologic variations in juvenile polyp phenotype correlate with genetic defect underlying juvenile polyposis.

Submit: New GeneRIF Correction See all (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Hereditary mixed polyposis syndrome 2

MIM: 610069

Genetic Testing Registry

Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than a hundred. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk of GI cancers in families with JPS ranges from 9% to 50%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) (termed JPS/HHT) may be present in 15%-22% of individuals with an SMAD4 mutation.

Diagnosis Testing

JPS is clinically diagnosed if any one of the three following findings is present: More than five juvenile polyps of the colorectum . Multiple juvenile polyps throughout the GI tract . Any number of juvenile polyps and a family history of juvenile polyps . Juvenile polyps are hamartomas with a distinct histology that differs from that of adenomas. The genes known to be associated with JPS are BMPR1A and SMAD4. Approximately 20% of individuals with JPS have mutations in BMPR1A; approximately 20% have mutations in SMAD4. Molecular genetic testing of both genes is available on a clinical basis.

Genetic Counseling

JPS is inherited in an autosomal dominant manner. Approximately 75% of individuals with JPS have an affected parent; approximately 25% of probands with JPS have no previous history of polyps in the family and may have the disorder as the result of a new gene mutation. Each child of an affected individual has a 50% chance of inheriting the mutation and developing JPS. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in the family is known. Requests for prenatal testing for conditions which (like JPS) are treatable and do not affect intellect are not common.

References

PMID: 20301642

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P36894	P12643	BMP2	HPRD	PubMed
P36894	P12644	BMP4	HPRD	PubMed
P36894	P22003	BMP5	HPRD	PubMed
P36894	P22004	BMP6	HPRD	PubMed
P36894	P18075	BMP7	HPRD	PubMed
P36894	P36894	BMPR1A	HPRD	PubMed
P36894	O00238	BMPR1B	HPRD	PubMed
P36894	Q13873	BMPR2	HPRD	PubMed
P36894	P43026	GDF5	HPRD	PubMed
P36894	Q6KF10	GDF6	HPRD	PubMed
P36894	O60383	GDF9	HPRD	PubMed
P36894	P31273	HOXC8	HPRD	PubMed
P36894	Q15427	SF3B4	HPRD	PubMed
P36894	Q15797	SMAD1	HPRD	PubMed
P36894	Q15750	TAB1	HPRD	PubMed
P36894	TGF beta receptor associated protein 1	TGFBRAP1	HPRD	PubMed
P36894	Q15326	ZMYND11	HPRD	PubMed
BioGRID:107125	BioGRID:117337	BAMBI	BioGRID	PubMed	Reconstituted Complex
BioGRID:107125	BioGRID:107118	BMP2	BioGRID	PubMed	Co-crystal Structure; Reconstituted Complex
BioGRID:107125	BioGRID:107120	BMP4	BioGRID	PubMed	Reconstituted Complex
BioGRID:107125	BioGRID:107122	BMP6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:107123	BMP7	BioGRID	PubMed	Reconstituted Complex
BioGRID:107125	BioGRID:107125	BMPR1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:107126	BMPR1B	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:107125	BioGRID:107127	BMPR2	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:107125	BioGRID:198371	Bmpr1a	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107125	BioGRID:108570	FKBP1A	BioGRID	PubMed	Two-hybrid
BioGRID:107125	BioGRID:108571	FKBP1B	BioGRID	PubMed	Two-hybrid
BioGRID:107125	BioGRID:115731	FST	BioGRID	PubMed	Co-crystal Structure
BioGRID:107125	BioGRID:113839	GDF5	BioGRID	PubMed	Reconstituted Complex
BioGRID:107125	BioGRID:134147	GDF6	BioGRID	PubMed	Reconstituted Complex
BioGRID:107125	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Luminescence
BioGRID:107125	BioGRID:109763	IGSF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:110694	MYC	BioGRID	PubMed	Dosage Lethality
BioGRID:107125	BioGRID:110811	NEDD4	BioGRID	PubMed	Reconstituted Complex
BioGRID:107125	BioGRID:116915	NEDD4L	BioGRID	PubMed	Biochemical Activity; Reconstituted Complex
BioGRID:107125	BioGRID:247522	Nedd4	BioGRID	PubMed	Reconstituted Complex
BioGRID:107125	BioGRID:107308	RUNX2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:115554	SF3B4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107125	BioGRID:110261	SMAD1	BioGRID	PubMed	Biochemical Activity
BioGRID:107125	BioGRID:110266	SMAD6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:110267	SMAD7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:121411	SMURF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:201280	Smad7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:114374	TSC22D1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107125	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107125	BioGRID:115989	ZMYND11	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

Pathways from BioSystems

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BMP signalling and regulation, organism-specific biosystem (from WikiPathways)
BMP signalling and regulation, organism-specific biosystem"BMP signals are mediated by type I and II BMP receptors and their downstream molecules Smad1, 5 and 8. Phosphorylated Smad1, 5 and 8 proteins form a complex with Smad4 and then are translocated into...
Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Endochondral Ossification, organism-specific biosystem (from WikiPathways)
Endochondral Ossification, organism-specific biosystem
Endochondral Ossification
Heart Development, organism-specific biosystem (from WikiPathways)
Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
Hippo signaling pathway, organism-specific biosystem (from KEGG)
Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
Hippo signaling pathway, conserved biosystem (from KEGG)
Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by BMP, organism-specific biosystem (from REACTOME)
Signaling by BMP, organism-specific biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
TGF-beta signaling pathway, conserved biosystem (from KEGG)
TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

General gene information

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Markers

SHGC-147966 (e-PCR)
- UniSTS:176129

RH80090 (e-PCR)
- UniSTS:84511

BMPR1A_487 (e-PCR)
- UniSTS:277037

RH103537 (e-PCR)
- UniSTS:97862

D10S1551E (e-PCR)
- UniSTS:147535

RH93276 (e-PCR)
- UniSTS:89457

D10S231E (e-PCR)
- UniSTS:78456

RH70975 (e-PCR)
- UniSTS:91512

SHGC-148622 (e-PCR)
- UniSTS:176506

D10S1454 (e-PCR)
- UniSTS:83329

STS-N27448 (e-PCR)
- UniSTS:5108

Genotypes

See BMPR1A SNP Geneview Report
See BMPR1A SNP Genotype Report
See BMPR1A SNP Variation Viewer Report

Related pseudogene(s)

2 found Review record(s) in Gene

Homology

Homologs of the BMPR1A gene: The BMPR1A gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and C.elegans.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
SMAD binding	IDA Inferred from Direct Assay more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding RNA polymerase II transcription factor activity	IEA Inferred from Electronic Annotation more info
transforming growth factor beta-activated receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein serine/threonine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
BMP signaling pathway	TAS Traceable Author Statement more info
Mullerian duct regression	IEA Inferred from Electronic Annotation more info
cartilage development	IEA Inferred from Electronic Annotation more info
developmental growth	IEA Inferred from Electronic Annotation more info
dorsal/ventral axis specification	IEA Inferred from Electronic Annotation more info
ectoderm development	IEA Inferred from Electronic Annotation more info
embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic organ development	IEA Inferred from Electronic Annotation more info
endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
heart formation	IEA Inferred from Electronic Annotation more info
hindlimb morphogenesis	IEA Inferred from Electronic Annotation more info
immune response	IMP Inferred from Mutant Phenotype more info	PubMed
in utero embryonic development	IEA Inferred from Electronic Annotation more info
lateral mesoderm development	IEA Inferred from Electronic Annotation more info
lung development	IEA Inferred from Electronic Annotation more info
mesendoderm development	IEA Inferred from Electronic Annotation more info
mesoderm formation	IEA Inferred from Electronic Annotation more info
negative regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
neural crest cell development	IEA Inferred from Electronic Annotation more info
neural plate mediolateral regionalization	IEA Inferred from Electronic Annotation more info
odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
palate development	IEA Inferred from Electronic Annotation more info
paraxial mesoderm structural organization	IEA Inferred from Electronic Annotation more info
pituitary gland development	IEA Inferred from Electronic Annotation more info
positive regulation of SMAD protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of pathway-restricted SMAD protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
regulation of lateral mesodermal cell fate specification	IEA Inferred from Electronic Annotation more info
somitogenesis	IEA Inferred from Electronic Annotation more info
stem cell maintenance	IEA Inferred from Electronic Annotation more info
transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with caveola	IMP Inferred from Mutant Phenotype more info	PubMed
dendrite	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: bone morphogenetic protein receptor type-1A

Names: bone morphogenetic protein receptor type-1A; ALK-3; BMPR-1A; BMP type-1A receptor; activin receptor-like kinase 3; activin A receptor, type II-like kinase 3; serine/threonine-protein kinase receptor R5

NP_004320.2

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009362.1 RefSeqGene

Range

5001..173550

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_298

mRNA and Protein(s)

NM_004329.2 → NP_004320.2 bone morphogenetic protein receptor type-1A precursor

Status: REVIEWED

Source sequence(s)

BC028383, BM819272, Z22535

Consensus CDS

CCDS7378.1

UniProtKB/Swiss-Prot

P36894

Related

ENSP00000361107, OTTHUMP00000020014, ENST00000372037, OTTHUMT00000049170

Conserved Domains (4) summary

cd00180
Location:240 – 440
Blast Score: 355

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:59 – 138
Blast Score: 177

Activin_recp; Activin types I and II receptor domain

cl02621
Location:204 – 232
Blast Score: 86

TGF_beta_GS; Transforming growth factor beta type I GS-motif

pfam00069
Location:237 – 519
Blast Score: 499

Pkinase; Protein kinase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p10 Primary Assembly

Range

88516396..88684945

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

82370811..82538774

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018921.1 Alternate CHM1_1.0

Range

88888287..89056403

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01033683.1	None
genomic	ABBA01033684.1	None
genomic	ABBA01033685.1	None
genomic	ABBA01033686.1	None
genomic	ABBA01033687.1	None
genomic	ABBA01033688.1	None
genomic	AC021036.6 (55973..111558)	None
genomic	AC025268.8 (91340..149668)	None
genomic	AC067750.5	None
genomic	AMYH01002901.1	None
genomic	CH471142.2	EAW80320.1
genomic	HI961666.1	CBY84973.1
mRNA	AB451405.1	BAG70219.1
mRNA	AK291764.1	BAF84453.1
mRNA	BC028383.1	AAH28383.1
mRNA	BM819272.1	None
mRNA	DQ786215.1	None
mRNA	Z22535.1	CAA80257.1
other-genetic	DQ891524.2	ABM82450.1
other-genetic	DQ894714.2	ABM85640.1