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BMPR1A bone morphogenetic protein receptor type 1A [ Homo sapiens (human) ]

Gene ID: 657, updated on 12-Jul-2020

Summary

Official Symbol
BMPR1Aprovided by HGNC
Official Full Name
bone morphogenetic protein receptor type 1Aprovided by HGNC
Primary source
HGNC:HGNC:1076
See related
Ensembl:ENSG00000107779 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]
Expression
Ubiquitous expression in thyroid (RPKM 14.8), endometrium (RPKM 10.0) and 23 other tissues See more
Orthologs

Genomic context

See BMPR1A in Genome Data Viewer
Location:
10q23.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (86755786..86927969)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (88516396..88684945)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378409 Neighboring gene VISTA enhancer hs2143 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 Sharpr-MPRA regulatory region 4131 Neighboring gene multimerin 2 Neighboring gene synuclein gamma

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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 (2020-06-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2020-06-24)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Treatment of pulmonary arterial smooth muscle cells with HIV-1 gp120 downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed
Nef nef Treatment of pulmonary arterial smooth muscle cells with HIV-1 Nef downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed
Tat tat Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat modulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
BMP receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
SMAD binding IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BMP signaling pathway IC
Inferred by Curator
more info
PubMed 
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
BMP signaling pathway TAS
Traceable Author Statement
more info
 
BMP signaling pathway involved in heart development IC
Inferred by Curator
more info
 
Mullerian duct regression IEA
Inferred from Electronic Annotation
more info
 
cardiac conduction system development ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
developmental growth IEA
Inferred from Electronic Annotation
more info
 
dorsal aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dorsal/ventral axis specification IEA
Inferred from Electronic Annotation
more info
 
dorsal/ventral pattern formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
fibrous ring of heart morphogenesis 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
 
mitral valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smooth muscle cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
paraxial mesoderm structural organization IEA
Inferred from Electronic Annotation
more info
 
pharyngeal arch artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac ventricle development ISS
Inferred from Sequence or Structural Similarity
more info
 
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 pri-miRNA transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of vascular smooth muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
NOT regulation of cardiac muscle cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cellular senescence IEA
Inferred from Electronic Annotation
more info
 
regulation of lateral mesodermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
NOT regulation of neural crest cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
tricuspid valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular compact myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
HFE-transferrin receptor complex IC
Inferred by Curator
more info
PubMed 
colocalizes_with caveola IMP
Inferred from Mutant Phenotype
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
bone morphogenetic protein receptor type-1A
Names
ALK-3
BMP type-1A receptor
BMPR-1A
activin A receptor, type II-like kinase 3
activin receptor-like kinase 3
bone morphogenetic protein receptor, type IA
serine/threonine-protein kinase receptor R5
NP_004320.2
XP_011538405.1
XP_011538406.1

NCBI Reference Sequences (RefSeq)

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_004329.3NP_004320.2  bone morphogenetic protein receptor type-1A precursor

    See identical proteins and their annotated locations for NP_004320.2

    Status: REVIEWED

    Source sequence(s)
    AC021036, AC025268, AC067750
    Consensus CDS
    CCDS7378.1
    UniProtKB/Swiss-Prot
    P36894
    Related
    ENSP00000361107.1, ENST00000372037.7
    Conserved Domains (3) summary
    smart00221
    Location:234521
    STYKc; Protein kinase; unclassified specificity
    cd14220
    Location:238524
    STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
    pfam01064
    Location:59138
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    86755786..86927969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540103.2XP_011538405.1  bone morphogenetic protein receptor type-1A isoform X1

    See identical proteins and their annotated locations for XP_011538405.1

    UniProtKB/Swiss-Prot
    P36894
    Related
    ENSP00000490273.1, ENST00000636056.1
    Conserved Domains (3) summary
    smart00221
    Location:234521
    STYKc; Protein kinase; unclassified specificity
    cd14220
    Location:238524
    STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
    pfam01064
    Location:59138
    Activin_recp; Activin types I and II receptor domain
  2. XM_011540104.2XP_011538406.1  bone morphogenetic protein receptor type-1A isoform X1

    See identical proteins and their annotated locations for XP_011538406.1

    UniProtKB/Swiss-Prot
    P36894
    Conserved Domains (3) summary
    smart00221
    Location:234521
    STYKc; Protein kinase; unclassified specificity
    cd14220
    Location:238524
    STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
    pfam01064
    Location:59138
    Activin_recp; Activin types I and II receptor domain
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