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Aliases for BMPR1A Gene

Aliases for BMPR1A Gene

  • Bone Morphogenetic Protein Receptor, Type IA 2 3
  • ACVRLK3 3 4 6
  • ALK3 3 4 6
  • Serine/Threonine-Protein Kinase Receptor R5 3 4
  • Activin Receptor-Like Kinase 3 3 4
  • BMP Type-1A Receptor 3 4
  • EC 2.7.11.30 4 64
  • BMPR-1A 3 4
  • ALK-3 3 4
  • SKR5 3 4
  • Bone Morphogenetic Protein Receptor Type-1A 3
  • Activin A Receptor, Type II-Like Kinase 3 3
  • CD292 Antigen 4
  • EC 2.7.11 64
  • 10q23del 3
  • CD292 3

External Ids for BMPR1A Gene

Previous Symbols for BMPR1A Gene

  • ACVRLK3

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 IA) is a Protein Coding gene. Diseases associated with BMPR1A include bmpr1a-related juvenile polyposis and juvenile polyposis of infancy. Among its related pathways are Signaling by GPCR and Akt Signaling. GO annotations related to this gene include protein homodimerization activity and sequence-specific DNA binding RNA polymerase II transcription factor 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 BMP-2 and BMP-4. Positively regulates chondrocyte differentiation through GDF5 interaction (By similarity).

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

Genomic Location for BMPR1A Gene

Start:
86,756,639 bp from pter
End:
86,932,838 bp from pter
Size:
176,200 bases
Orientation:
Plus strand

Genomic View for BMPR1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BMPR1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMPR1A Gene

Regulatory Elements for BMPR1A Gene

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

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 low affinity with GDF5; positively regulates chondrocyte differentiation.

    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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn73

Other Protein References for BMPR1A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for BMPR1A Gene

UniProtKB/Swiss-Prot:

BMR1A_HUMAN
Domain:
  • Contains 1 GS domain.:
    • P36894
  • Contains 1 protein kinase domain.:
    • P36894
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • P36894
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 BMP-2 and BMP-4. Positively regulates chondrocyte differentiation through GDF5 interaction (By similarity).

Enzyme Numbers (IUBMB) for BMPR1A Gene

Gene Ontology (GO) - Molecular Function for BMPR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IEA --
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity TAS --
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
genes like me logo Genes that share ontologies with BMPR1A: view
genes like me logo Genes that share phenotypes with BMPR1A: view

Animal Models for BMPR1A Gene

MGI Knock Outs for BMPR1A:

miRNA for BMPR1A Gene

miRTarBase miRNAs that target BMPR1A

No data available for Transcription Factor Targeting 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 4
peroxisome 2
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for BMPR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005901 colocalizes_with caveola IMP 15657086
GO:0009897 external side of plasma membrane IDA 24904118
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BMPR1A: view

Pathways for BMPR1A Gene

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

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

Compounds for BMPR1A Gene

(4) HMDB Compounds for BMPR1A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(2) Novoseek inferred chemical compound relationships for BMPR1A Gene

Compound -log(P) Hits PubMed IDs
threonine 58.2 2
serine 42 2
genes like me logo Genes that share compounds with BMPR1A: view

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 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 expressions with BMPR1A: view

Orthologs for BMPR1A Gene

This gene was present in the common ancestor of animals.

Orthologs for BMPR1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMPR1A 36
  • 99.37 (n)
  • 99.62 (a)
BMPR1A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BMPR-IA 37
  • 98 (a)
OneToOne
BMPR1A 36
  • 92.67 (n)
  • 97.74 (a)
dog
(Canis familiaris)
Mammalia BMPR1A 36
  • 91.54 (n)
  • 98.87 (a)
BMPR1A 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmpr1a 36
  • 90.91 (n)
  • 97.93 (a)
Bmpr1a 16
Bmpr1a 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BMPR1A 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMPR1A 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmpr1a 36
  • 89.97 (n)
  • 96.99 (a)
chicken
(Gallus gallus)
Aves BMPR1A 36
  • 80.14 (n)
  • 91.17 (a)
BMPR1A 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMPR1A 37
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmpr1a 36
  • 73.06 (n)
  • 82.61 (a)
zebrafish
(Danio rerio)
Actinopterygii bmpr1a 36
bmpr1aa 37
  • 76 (a)
OneToMany
bmpr1ab 37
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta tkv 37
  • 45 (a)
OneToMany
tkv 38
  • 51 (a)
babo 38
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea sma-6 38
  • 32 (a)
daf-1 38
  • 39 (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

Selected 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 MAF
rs722068 -- 86,826,169(+) CATTT(G/T)AGCAC intron-variant
rs733877 -- 86,842,611(+) GGATC(A/G)TAATT intron-variant
rs734464 -- 86,901,028(-) agctg(C/T)aaagc intron-variant
rs749673 -- 86,900,442(+) TTTGC(A/G)TTATA intron-variant
rs764458 -- 86,755,607(+) TTTCC(A/C)CCATG upstream-variant-2KB

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

Relevant External Links for BMPR1A Gene

HapMap Linkage Disequilibrium report
BMPR1A
Human Gene Mutation Database (HGMD)
BMPR1A

Disorders for BMPR1A Gene

(2) OMIM Diseases for BMPR1A Gene (601299)

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.
  • 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.
  • 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}.

(10) Novoseek inferred disease relationships for BMPR1A Gene

Disease -log(P) Hits PubMed IDs
juvenile polyposis syndrome 91.9 3
polyposis 72.3 7
cowden disease 61.3 3
polyps 44.1 1
hypertension arterial 25.3 2

Relevant External Links for BMPR1A

GeneTests
BMPR1A
GeneReviews
BMPR1A
Genetic Association Database (GAD)
BMPR1A
Human Genome Epidemiology (HuGE) Navigator
BMPR1A
genes like me logo Genes that share disorders with BMPR1A: view

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
  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. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. (PMID: 11381269) Howe J.R. … Vogelstein B. (Nat. Genet. 2001) 3 4 23
  4. Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. (PMID: 12630959) Kim I.J. … Park J.G. (Clin. Genet. 2003) 3 4 23
  5. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. (PMID: 15235019) Howe J.R. … Lynch H.T. (J. Med. Genet. 2004) 3 23 49

Products for BMPR1A Gene

Sources for BMPR1A Gene

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