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Aliases for BMPR1A Gene

Aliases for BMPR1A Gene

  • Bone Morphogenetic Protein Receptor Type 1A 2 3
  • Bone Morphogenetic Protein Receptor, Type IA 2 3
  • Serine/Threonine-Protein Kinase Receptor R5 3 4
  • Bone Morphogenetic Protein Receptor Type IA 3 5
  • Activin Receptor-Like Kinase 3 3 4
  • BMP Type-1A Receptor 3 4
  • EC 2.7.11.30 4 63
  • ACVRLK3 3 4
  • BMPR-1A 3 4
  • ALK-3 3 4
  • ALK3 3 4
  • SKR5 3 4
  • Activin A Receptor, Type II-Like Kinase 3 3
  • CD292 Antigen 4
  • EC 2.7.11 63
  • 10q23del 3
  • CD292 3

External Ids for BMPR1A Gene

Previous HGNC Symbols for BMPR1A Gene

  • ACVRLK3

Previous GeneCards Identifiers for BMPR1A Gene

  • GC10P087398
  • GC10P087738
  • GC10P088647
  • GC10P088180
  • GC10P088506
  • GC10P082370

Summaries for BMPR1A Gene

Entrez Gene Summary for BMPR1A Gene

  • 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]

GeneCards Summary for BMPR1A Gene

BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) is a Protein Coding gene. Diseases associated with BMPR1A include Polyposis Syndrome, Hereditary Mixed, 2 and Polyposis, Juvenile Intestinal. Among its related pathways are Endochondral Ossification and ERK Signaling. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot for BMPR1A Gene

  • 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.

Gene Wiki entry for BMPR1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMPR1A Gene

Genomics for BMPR1A Gene

Regulatory Elements for BMPR1A Gene

Enhancers for BMPR1A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BMPR1A on UCSC Golden Path with GeneCards custom track

Promoters for BMPR1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BMPR1A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the BMPR1A gene promoter:

Genomic Location for BMPR1A Gene

Chromosome:
10
Start:
86,755,786 bp from pter
End:
86,932,838 bp from pter
Size:
177,053 bases
Orientation:
Plus strand

Genomic View for BMPR1A Gene

Genes around BMPR1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMPR1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMPR1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMPR1A Gene

Proteins for BMPR1A Gene

  • Protein details for BMPR1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36894-BMR1A_HUMAN
    Recommended name:
    Bone morphogenetic protein receptor type-1A
    Protein Accession:
    P36894
    Secondary Accessions:
    • A8K6U9
    • Q8NEN8

    Protein attributes for BMPR1A Gene

    Size:
    532 amino acids
    Molecular mass:
    60198 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with BMP2 (PubMed:10881198, PubMed:18937504). Interacts with low affinity with GDF5; positively regulates chondrocyte differentiation (PubMed:24098149).

    Three dimensional structures from OCA and Proteopedia for BMPR1A Gene

neXtProt entry for BMPR1A Gene

Proteomics data for BMPR1A Gene at MOPED

Post-translational modifications for BMPR1A Gene

  • Glycosylation at Asn 73
  • Modification sites at PhosphoSitePlus

Other Protein References for BMPR1A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for BMPR1A (BMPR-IA/ALK-3)

Domains & Families for BMPR1A Gene

Suggested Antigen Peptide Sequences for BMPR1A Gene

Graphical View of Domain Structure for InterPro Entry

P36894

UniProtKB/Swiss-Prot:

BMR1A_HUMAN :
  • Contains 1 GS domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • Contains 1 GS domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with BMPR1A: view

Function for BMPR1A Gene

Molecular function for BMPR1A Gene

GENATLAS Biochemistry:
bone morphogenetic protein receptor,type 1A,expressed almost exclusively in skeletal muscle,regulator of chondrocyte differentiation,down stream mediator of Indian Hedgehog,TGFBR superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for BMPR1A Gene

Gene Ontology (GO) - Molecular Function for BMPR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA,TAS --
GO:0046332 SMAD binding IDA 12065756
genes like me logo Genes that share ontologies with BMPR1A: view

Phenotypes for BMPR1A Gene

MGI mutant phenotypes for BMPR1A:
inferred from 5 alleles
GenomeRNAi human phenotypes for BMPR1A:
genes like me logo Genes that share phenotypes with BMPR1A: view

Human Phenotype Ontology for BMPR1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMPR1A Gene

MGI Knock Outs for BMPR1A:

Animal Model Products

miRNA for BMPR1A Gene

miRTarBase miRNAs that target BMPR1A

No data available for Transcription Factor Targets and HOMER Transcription for BMPR1A Gene

Localization for BMPR1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMPR1A Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BMPR1A Gene COMPARTMENTS Subcellular localization image for BMPR1A gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 2
peroxisome 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for BMPR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with BMPR1A: view

Pathways & Interactions for BMPR1A Gene

genes like me logo Genes that share pathways with BMPR1A: view

SIGNOR curated interactions for BMPR1A Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BMPR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001707 mesoderm formation IEA --
GO:0001756 somitogenesis IEA --
GO:0001880 Mullerian duct regression IEA --
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
genes like me logo Genes that share ontologies with BMPR1A: view

Drugs & Compounds for BMPR1A Gene

(7) Drugs for BMPR1A Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
DMH-1 Pharma Selective BMP ALK2 receptor, Selective ALK2 inhibitor 0
LDN-193189 Pharma ALK inhibitor,potent and selective 0
Manganese Pharma 32
Magnesium Nutra 0

(1) Additional Compounds for BMPR1A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(2) ApexBio Compounds for BMPR1A Gene

Compound Action Cas Number
DMH-1 Selective BMP ALK2 receptor 1206711-16-1
LDN-193189 ALK inhibitor,potent and selective 1062368-24-4
genes like me logo Genes that share compounds with BMPR1A: view

Drug Products

Transcripts for BMPR1A Gene

mRNA/cDNA for BMPR1A Gene

Unigene Clusters for BMPR1A Gene

Bone morphogenetic protein receptor, type IA:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BMPR1A Gene

No ASD Table

Relevant External Links for BMPR1A Gene

GeneLoc Exon Structure for
BMPR1A
ECgene alternative splicing isoforms for
BMPR1A

Expression for BMPR1A Gene

mRNA expression in normal human tissues for BMPR1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for BMPR1A Gene



SOURCE GeneReport for Unigene cluster for BMPR1A Gene Hs.524477

mRNA Expression by UniProt/SwissProt for BMPR1A Gene

P36894-BMR1A_HUMAN
Tissue specificity: Highly expressed in skeletal muscle.
genes like me logo Genes that share expression patterns with BMPR1A: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for BMPR1A Gene

Orthologs for BMPR1A Gene

This gene was present in the common ancestor of animals.

Orthologs for BMPR1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BMPR1A 35
  • 92.67 (n)
  • 97.74 (a)
BMPR-IA 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMPR1A 35
  • 91.54 (n)
  • 98.87 (a)
BMPR1A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmpr1a 35
  • 90.91 (n)
  • 97.93 (a)
Bmpr1a 16
Bmpr1a 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BMPR1A 35
  • 99.37 (n)
  • 99.62 (a)
BMPR1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmpr1a 35
  • 89.97 (n)
  • 96.99 (a)
oppossum
(Monodelphis domestica)
Mammalia BMPR1A 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMPR1A 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMPR1A 35
  • 80.14 (n)
  • 91.17 (a)
BMPR1A 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMPR1A 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmpr1a 35
  • 73.06 (n)
  • 82.61 (a)
zebrafish
(Danio rerio)
Actinopterygii bmpr1a 35
bmpr1aa 36
  • 76 (a)
OneToMany
bmpr1ab 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta babo 37
  • 47 (a)
tkv 37
  • 51 (a)
tkv 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-1 37
  • 39 (a)
sma-6 37
  • 32 (a)
Species with no ortholog for BMPR1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BMPR1A Gene

ENSEMBL:
Gene Tree for BMPR1A (if available)
TreeFam:
Gene Tree for BMPR1A (if available)

Paralogs for BMPR1A Gene

(8) SIMAP similar genes for BMPR1A Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for BMPR1A Gene

genes like me logo Genes that share paralogs with BMPR1A: view

Variants for BMPR1A Gene

Sequence variations from dbSNP and Humsavar for BMPR1A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_015533 Juvenile polyposis syndrome (JPS)
VAR_015534 Juvenile polyposis syndrome (JPS)
VAR_015535 Juvenile polyposis syndrome (JPS)
VAR_022828 Juvenile polyposis syndrome (JPS)
VAR_022829 Juvenile polyposis syndrome (JPS)

Structural Variations from Database of Genomic Variants (DGV) for BMPR1A Gene

Variant ID Type Subtype PubMed ID
nsv895857 CNV Loss 21882294
dgv310e1 CNV Complex 17122850
esv22608 CNV Loss 19812545
esv33714 CNV Loss 17666407
nsv7481 CNV Loss 18451855
esv2739206 CNV Deletion 23290073
esv1482533 CNV Insertion 17803354
dgv311e1 CNV Complex 17122850
dgv312e1 CNV Complex 17122850
nsv428236 CNV Loss 18775914
nsv517487 CNV Gain+Loss 19592680
esv2566276 CNV Deletion 19546169
esv2249804 CNV Deletion 18987734
esv2811 CNV Deletion 18987735
esv2739217 CNV Deletion 23290073
esv9067 CNV Loss 19470904
nsv7482 CNV Insertion 18451855

Variation tolerance for BMPR1A Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.38; 92.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMPR1A Gene

Human Gene Mutation Database (HGMD)
BMPR1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPR1A Gene

Disorders for BMPR1A Gene

MalaCards: The human disease database

(20) MalaCards diseases for BMPR1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
polyposis syndrome, hereditary mixed, 2
  • hereditary mixed polyposis syndrome 2
polyposis, juvenile intestinal
  • juvenile polyposis syndrome, infantile form
prosthetic joint infection
  • juvenile polyposis syndrome
generalized juvenile polyposis/juvenile polyposis coli
bmpr1a-related juvenile polyposis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BMR1A_HUMAN
  • Juvenile polyposis syndrome (JPS) [MIM:174900]: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers. {ECO:0000269 PubMed:11536076, ECO:0000269 PubMed:12136244, ECO:0000269 PubMed:12417513, ECO:0000269 PubMed:12630959}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome. {ECO:0000269 PubMed:11381269, ECO:0000269 PubMed:16525031}.
  • Polyposis syndrome, mixed hereditary 2 (HMPS2) [MIM:610069]: A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BMPR1A

Genetic Association Database (GAD)
BMPR1A
Human Genome Epidemiology (HuGE) Navigator
BMPR1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMPR1A
genes like me logo Genes that share disorders with BMPR1A: view

No data available for Genatlas for BMPR1A Gene

Publications for BMPR1A Gene

  1. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PMID: 8397373) ten Dijke P. … Miyazono K. (Oncogene 1993) 2 3 4 23 67
  2. Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping. (PMID: 9730621) Ide H. … Terada M. (Cytogenet. Cell Genet. 1998) 2 3 23
  3. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. (PMID: 18823382) Calva-Cerqueira D. … Howe J.R. (Clin. Genet. 2009) 3 23
  4. Serotonin induces Rho/ROCK-dependent activation of Smads 1/5/8 in pulmonary artery smooth muscle cells. (PMID: 19244313) Liu Y. … Fanburg B.L. (FASEB J. 2009) 3 23
  5. Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome. (PMID: 19773747) Cheah P.Y. … Eu K.W. (Am. J. Gastroenterol. 2009) 3 23

Products for BMPR1A Gene

Sources for BMPR1A Gene

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