Homo sapiens Gene: BMPR1A
Summary
InnateDB Gene IDBG-81081.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BMPR1A
Gene Name bone morphogenetic protein receptor, type IA
Synonyms 10q23del; ACVRLK3; ALK3; CD292; SKR5
Species Homo sapiens
Ensembl Gene ENSG00000107779
Encoded Proteins
bone morphogenetic protein receptor, type IA
bone morphogenetic protein receptor, type IA
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:86756650-86932838
Strand Forward strand
Band q23.2
Transcripts
ENST00000372037 ENSP00000361107
ENST00000480152 ENSP00000483569
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 48 [view]
Protein-Protein 47 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0004702 receptor signaling protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0042803 protein homodimerization activity
GO:0046332 SMAD binding
GO:0046872 metal ion binding
Biological Process
GO:0001701 in utero embryonic development
GO:0001707 mesoderm formation
GO:0001756 somitogenesis
GO:0001880 Mullerian duct regression
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0003007 heart morphogenesis
GO:0003272 endocardial cushion formation
GO:0006366 transcription from RNA polymerase II promoter
GO:0006468 protein phosphorylation
GO:0006955 immune response
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007389 pattern specification process
GO:0007398 ectoderm development
GO:0007399 nervous system development
GO:0007492 endoderm development
GO:0007507 heart development
GO:0009950 dorsal/ventral axis specification
GO:0009952 anterior/posterior pattern specification
GO:0009953 dorsal/ventral pattern formation
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0014032 neural crest cell development
GO:0019827 stem cell maintenance
GO:0021983 pituitary gland development
GO:0021998 neural plate mediolateral regionalization
GO:0023014 signal transduction by phosphorylation
GO:0030154 cell differentiation
GO:0030324 lung development
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0035137 hindlimb morphogenesis
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042733 embryonic digit morphogenesis
GO:0045669 positive regulation of osteoblast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048339 paraxial mesoderm development
GO:0048352 paraxial mesoderm structural organization
GO:0048368 lateral mesoderm development
GO:0048378 regulation of lateral mesodermal cell fate specification
GO:0048382 mesendoderm development
GO:0048568 embryonic organ development
GO:0048589 developmental growth
GO:0048598 embryonic morphogenesis
GO:0050679 positive regulation of epithelial cell proliferation
GO:0050768 negative regulation of neurogenesis
GO:0051216 cartilage development
GO:0060021 palate development
GO:0060391 positive regulation of SMAD protein import into nucleus
GO:0060896 neural plate pattern specification
GO:0060914 heart formation
Cellular Component
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Signaling by BMP pathway
Signal Transduction pathway
KEGG
TGF-beta signaling pathway pathway
Cytokine-cytokine receptor interaction pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
TGF-beta signaling pathway
BMP2 signaling pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.524477
RefSeq NM_004329
HUGO
OMIM
CCDS CCDS7378
HPRD 03192
IMGT
EMBL
GenPept
RNA Seq Atlas