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BMPR1A
HPA
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  • BMPR1A
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

BMPR1A
Synonyms ACVRLK3, ALK3, CD292
Gene descriptioni

Full gene name according to HGNC.

Bone morphogenetic protein receptor type 1A
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
CD markers
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 10
Cytoband q23.2
Chromosome location (bp) 86756601 - 86932825
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000107779 (version 109)
Entrez gene 657
HGNC HGNC:1076
UniProt P36894 (UniProt - Evidence at protein level)
neXtProt NX_P36894
GeneCards BMPR1A
Antibodypedia BMPR1A antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. May promote the expression of HAMP, potentially via its interaction with BMP2 (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Kinase, Receptor, Serine/threonine-protein kinase, Transferase
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
BMPR1A-201
ENSP00000361107
ENST00000372037
P36894
[Direct mapping] Bone morphogenetic protein receptor type-1A
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   TKL Ser/Thr protein kinases
CD markers
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Digestive system diseases
   Gastrointestinal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0001525 [angiogenesis]
GO:0001649 [osteoblast differentiation]
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:0002062 [chondrocyte differentiation]
GO:0003007 [heart morphogenesis]
GO:0003148 [outflow tract septum morphogenesis]
GO:0003151 [outflow tract morphogenesis]
GO:0003161 [cardiac conduction system development]
GO:0003171 [atrioventricular valve development]
GO:0003183 [mitral valve morphogenesis]
GO:0003186 [tricuspid valve morphogenesis]
GO:0003203 [endocardial cushion morphogenesis]
GO:0003215 [cardiac right ventricle morphogenesis]
GO:0003222 [ventricular trabecula myocardium morphogenesis]
GO:0003223 [ventricular compact myocardium morphogenesis]
GO:0003272 [endocardial cushion formation]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0004675 [transmembrane receptor protein serine/threonine kinase activity]
GO:0005025 [transforming growth factor beta receptor activity, type I]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006468 [protein phosphorylation]
GO:0006955 [immune response]
GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway]
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:0009897 [external side of plasma membrane]
GO:0009950 [dorsal/ventral axis specification]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0009986 [cell surface]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0014032 [neural crest cell development]
GO:0014912 [negative regulation of smooth muscle cell migration]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016740 [transferase activity]
GO:0019211 [phosphatase activator activity]
GO:0021953 [central nervous system neuron differentiation]
GO:0021983 [pituitary gland development]
GO:0021998 [neural plate mediolateral regionalization]
GO:0030324 [lung development]
GO:0030425 [dendrite]
GO:0030501 [positive regulation of bone mineralization]
GO:0030509 [BMP signaling pathway]
GO:0032915 [positive regulation of transforming growth factor beta2 production]
GO:0035019 [somatic stem cell population maintenance]
GO:0035137 [hindlimb morphogenesis]
GO:0035912 [dorsal aorta morphogenesis]
GO:0036122 [BMP binding]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042733 [embryonic digit morphogenesis]
GO:0042803 [protein homodimerization activity]
GO:0043025 [neuronal cell body]
GO:0043167 [ion binding]
GO:0043235 [receptor complex]
GO:0043539 [protein serine/threonine kinase activator activity]
GO:0045669 [positive regulation of osteoblast differentiation]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046332 [SMAD binding]
GO:0046872 [metal ion binding]
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:0050673 [epithelial cell proliferation]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0050768 [negative regulation of neurogenesis]
GO:0051148 [negative regulation of muscle cell differentiation]
GO:0051171 [regulation of nitrogen compound metabolic process]
GO:0051216 [cartilage development]
GO:0051239 [regulation of multicellular organismal process]
GO:0060021 [roof of mouth development]
GO:0060043 [regulation of cardiac muscle cell proliferation]
GO:0060045 [positive regulation of cardiac muscle cell proliferation]
GO:0060255 [regulation of macromolecule metabolic process]
GO:0060391 [positive regulation of SMAD protein signal transduction]
GO:0060412 [ventricular septum morphogenesis]
GO:0060896 [neural plate pattern specification]
GO:0060914 [heart formation]
GO:0060928 [atrioventricular node cell development]
GO:0061312 [BMP signaling pathway involved in heart development]
GO:0061626 [pharyngeal arch artery morphogenesis]
GO:0071363 [cellular response to growth factor stimulus]
GO:0071773 [cellular response to BMP stimulus]
GO:0080090 [regulation of primary metabolic process]
GO:0098802 [plasma membrane signaling receptor complex]
GO:0098821 [BMP receptor activity]
GO:0140537 [transcription regulator activator activity]
GO:1902895 [positive regulation of miRNA transcription]
GO:1904414 [positive regulation of cardiac ventricle development]
GO:1904707 [positive regulation of vascular associated smooth muscle cell proliferation]
GO:1905285 [fibrous ring of heart morphogenesis]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000772 [regulation of cellular senescence]
Show all
532 aa
60.2 kDa
Yes 1
BMPR1A-202
ENSP00000483569
ENST00000480152
A0A087X0P8
[Direct mapping] Bone morphogenetic protein receptor type-1A
Show all
   SPOCTOPUS predicted membrane proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   DeepTMHMM predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Human disease related genes
   Digestive system diseases
   Gastrointestinal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
41 aa
4.7 kDa
Yes 0

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