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

Gene ID: 657, updated on 12-Apr-2014
Official Symbol
BMPR1Aprovided by HGNC
Official Full Name
bone morphogenetic protein receptor, type IAprovided by HGNC
Primary source
HGNC:1076
See related
HPRD:03192; MIM:601299
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]
Location :
10q22.3
Sequence :
Chromosome: 10; NC_000010.11 (86756639..86925188)
See BMPR1A in Epigenomics, MapViewer

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene opsin 4 Neighboring gene LIM domain binding 3 Neighboring gene RNA polymerase II associated protein 2 pseudogene 1 Neighboring gene RNA, U1 small nuclear 19, pseudogene Neighboring gene multimerin 2 Neighboring gene uncharacterized LOC102723625 Neighboring gene synuclein, gamma (breast cancer-specific protein 1) Neighboring gene ankyrin repeat and GTPase domain Arf GTPase activating protein 11 Neighboring gene adipogenesis regulatory factor

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hereditary mixed polyposis syndrome 2
MedGen: C1864730 OMIM: 610069 GeneReviews: Not available
Compare labs
Juvenile polyposis syndrome
MedGen: C0345893 OMIM: 174900 GeneReviews: Juvenile Polyposis Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-10-28)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2011-10-28)

ISCA Genome Curation Page
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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-templated 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 component of 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
 
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

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

  1. NG_009362.1 RefSeqGene

    Range
    5001..173550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_298

mRNA and Protein(s)

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

    See proteins identical to NP_004320.2

    Status: REVIEWED

    Source sequence(s)
    BC028383, BM819272, Z22535
    Consensus CDS
    CCDS7378.1
    UniProtKB/Swiss-Prot
    P36894
    Conserved Domains (3) summary
    cd00180
    Location:240440
    Blast Score: 357
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:237519
    Blast Score: 517
    Pkinase; Protein kinase domain
    pfam01064
    Location:59138
    Blast Score: 172
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38 Primary Assembly

    Range
    86756639..86925188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 Alternate HuRef

    Range
    82370811..82538774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    88798078..88966382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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