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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... See more...
Aliases for BMPR1A Gene
Aliases for BMPR1A Gene
External Ids for BMPR1A Gene
- HGNC: 1076
- Entrez Gene: 657
- Ensembl: ENSG00000107779
- OMIM: 601299
- UniProtKB: P36894
Previous HGNC Symbols for BMPR1A Gene
- ACVRLK3
Previous GeneCards Identifiers for BMPR1A Gene
- GC10P087398
- GC10P087738
- GC10P088647
- GC10P088180
- GC10P088506
- GC10P082370
Summaries 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 Juvenile Polyposis Syndrome. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and DREAM Repression and Dynorphin Expression. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is BMPR1B.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for BMPR1A Gene
- Monarch Initiative
- Search for BMPR1A at DataMed
- Search for BMPR1A at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMPR1A Gene
Genomics for BMPR1A Gene
GeneHancer (GH) Regulatory Elements for BMPR1A Gene
Promoters and enhancers for BMPR1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BMPR1A on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BMPR1A gene promoter:
-
- NF-1
- NF-1/L
- Nkx2-5
Genomic Locations for BMPR1A Gene
Genomic Locations for BMPR1A Gene
- chr10:86,755,786-86,932,838
- (GRCh38/hg38)
- Size:
- 177,053 bases
- Orientation:
- Plus strand
- chr10:88,516,396-88,692,595
- (GRCh37/hg19)
- Size:
- 176,200 bases
- Orientation:
- Plus strand
Genomic View for BMPR1A Gene
Genes around BMPR1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q23.2 by HGNC
- 10q23.2 by Entrez Gene
- 10q23.2 by Ensembl
BMPR1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for BMPR1A Gene
Selected DME Specific Peptides for BMPR1A Gene
- P36894:
-
- LITDYHE
- RHENILGFIAAD
- RVGTKRYM
- GESLKDLI
- KPAIAHRD
- IADLGLA
- PLLVQRTIA
- ECWAHNPASRLTALR
- SGSGSGLP
- RYMAPEVL
- YMAPEVL
- CCIADLGLA
Post-translational modifications for BMPR1A Gene
- Glycosylated.
-
Glycosylation at Asn73
- NX_P36894 (NX_P36894-1)
- Modification sites at PhosphoSitePlus
Other Protein References for BMPR1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ BMPR1A Antibody
- NSJ Bioreagents BMPR1A Antibody (ALK3)
-
Creative Biolabs
- Recombinant Anti-Human BMPR1A Antibody
- Recombinant Anti-Human BMPR1A Antibody Fab Fragment
- Recombinant Human Anti-BMPR-IA Antibody (AbD1556)
- Anti-Human BMPR1A Therapeutic Antibody Fab Fragment (5M107)
- Anti-Human BMPR1A Therapeutic Antibody (5M107)
- Recombinant Human Anti-BMPR-IA Antibody Fab Fragment (AbD1556)
- Mouse Anti-BMPR1A Recombinant Antibody (CBYC-A918)
- Mouse Anti-BMPR1A Recombinant Antibody (4C4)
- HuCAL Anti-BMPR1A Recombinant Antibody (1564)
- Recombinant Mouse Anti-BMPR1A Antibody (CBL674)
- Human Anti-BMPR1A (AA 24-152) Recombinant Antibody (CBFYC-0580)
- Mouse Anti-BMPR1A Recombinant Antibody (4B7B2)
- Mouse Anti-BMPR1A Recombinant Antibody (CBYY-2083)
- Mouse Anti-BMPR1A (AA 470-520) Recombinant Antibody (CBYY-0684)
- Recombinant Mouse Anti-Human BMPR1A Antibody
-
Custom Antibody ServicesOriGene Antibodies for BMPR1A
- Novus Biologicals Antibodies for BMPR1A
-
Abcam antibodies for BMPR1A
- Invitrogen Antibodies for BMPR1A (AFLGC-BMPR1A)
- antibodies-online: Show 65 available BMPR1A Antibodies ranked by validation data
- Compare Top BMPR1A Antibodies
-
Recommended
- 191 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 3 FACS Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 58 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for BMPR1A
- Sino Biological Antibodies for BMPR1A
Protein Products
- G Biosciences Human ALK-3/BMPR1A/BMPR-IA, Lyophilized
-
Creative Biomart
- Recombinant Human BMPR1A, His-tagged
- Recombinant Human Bone Morphogenetic Protein Receptor, Type IA, GST-tagged
- Recombinant Human Bone Morphogenetic Protein Receptor, Type IA, His-tagged
- Recombinant Human BMPR1A
- Recombinant Human Bone Morphogenetic Protein Receptor, Type IA
- Recombinant Human BMPR1A, Fc-tagged, Biotinylated
- Recombinant Human BMPR1A cell lysate
- Recombinant Human BMPR1A, Fc-tagged
- Recombinant Human BMPR1A, Fc-His tagged
- Recombinant Human BMPR-1A, His-tagged
- Recombinant Human BMPR1A Protein, Fc Chimera
- Recombinant Human BMPR1A protein, hIgG/His-tagged
- Recombinant Human BMPR1A Protein
- Recombinant Human BMPR1A Protein, GST-tagged (BMPR1A-281H)
- Recombinant Human BMPR1A Protein, Fc/His-tagged
- Recombinant Human BMPR1A Protein, GST-tagged (BMPR1A-279H)
- Recombinant Human BMPR1A Protein, MYC/DDK-tagged
-
OriGene Purified Proteins for BMPR1A
- Search Origene for MassSpec and Protein Over-expression Lysates for BMPR1A
- Origene Custom Protein Services for BMPR1A
- Sino Biological Recombinant Proteins for BMPR1A
- Sino Biological Cell Lysates for BMPR1A
- ProSpec Recombinant Proteins for BMPR1A
-
Abcam proteins for BMPR1A
Assay Products
- RayBiotech Custom Human BMPR-IA ELISA
- Aviva Systems Biology BMPR1A ELISA Kit (Human) : 96 Wells (OKEH00029)
- Novus Biologicals ELISA Kits for BMPR1A
- antibodies-online: Show 64 available BMPR1A Elisa Kits ranked by validation data
- Compare Top BMPR1A Elisa Kits
-
Quality Products:
- ABIN365788
- ABIN1028254
- ABIN1113794
- ABIN5519987
- ABIN5591708
- ABIN511253
- ABIN6384285
- ABIN4881978
- ABIN4967545
- ABIN2945736
- ABIN424018
- ABIN366324
- ABIN1568667
- ABIN1113796
- ABIN772857
- ABIN5652297
- ABIN4967544
- ABIN2542153
- ABIN6202040
- ABIN2542099
- ABIN1113795
- ABIN431354
- ABIN368119
- ABIN1568668
- ABIN5519988
- ABIN771535
- ABIN5591709
- ABIN5652298
- ABIN2542154
- ABIN2945732
Domains & Families for BMPR1A Gene
Gene Families for BMPR1A Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- CD markers
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for BMPR1A Gene
Suggested Antigen Peptide Sequences for BMPR1A Gene
- GenScript: Design optimal peptide antigens:
-
- Bone morphogenetic protein receptor type IA (B5BUG9_HUMAN)
- Serine/threonine-protein kinase receptor R5 (BMR1A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P36894UniProtKB/Swiss-Prot:
BMR1A_HUMAN :- Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
- Family:
-
- Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Function for BMPR1A Gene
Molecular function for BMPR1A Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=[receptor-protein]-L-threonine + ATP = [receptor-protein]-O-phospho-L-threonine + ADP + H(+); Xref=Rhea:RHEA:44880, Rhea:RHEA-COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=[receptor-protein]-L-serine + ATP = [receptor-protein]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30;.
- 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
Enzyme Numbers (IUBMB) for BMPR1A Gene
Phenotypes From GWAS Catalog for BMPR1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA | -- |
| GO:0004672 | protein kinase activity | IEA | -- |
| GO:0004674 | protein serine/threonine kinase activity | IDA | 12065756 |
| GO:0004675 | transmembrane receptor protein serine/threonine kinase activity | TAS | -- |
| GO:0005024 | transforming growth factor beta-activated receptor activity | IBA | 21873635 |
Phenotypes for BMPR1A Gene
- MGI mutant phenotypes for BMPR1A:
-
inferred from 4 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- pigmentation phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for BMPR1A:
-
- Increased mitotic index
- Decreased substrate adherent cell growth
- Decreased cell number
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in esophageal squamous lineage
- Increased cell viability after pRB stimulation
- Decreased viability
- no effect
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased hepcidin::fluc mRNA expression
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Increased viability
- Transferrin accumulation in the perinuclear area
Animal Models for BMPR1A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for BMPR1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMPR1A
- genomics-online: gRNA clones - Search for available BMPR1A gRNA products
- Overview of 174 available BMPR1A gene related products
- Applied Biological Materials (abm): CRISPR Clones for BMPR1A - Select products 50% OFF >
- * BMPR1A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * BMPR1A CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMPR1A
miRNA for BMPR1A Gene
- miRTarBase miRNAs that target BMPR1A
-
- hsa-mir-124-3p (MIRT022438)
- hsa-mir-455-3p (MIRT037861)
- hsa-mir-656-3p (MIRT054590)
- hsa-mir-580-3p (MIRT178213)
- hsa-mir-548l (MIRT230556)
- hsa-mir-510-3p (MIRT445779)
- hsa-mir-431-5p (MIRT445780)
- hsa-mir-3140-3p (MIRT445781)
- hsa-mir-203a-3p (MIRT445782)
- hsa-mir-302f (MIRT445783)
- hsa-mir-3616-5p (MIRT449624)
- hsa-mir-573 (MIRT449625)
- hsa-mir-34a-3p (MIRT449626)
- hsa-mir-1264 (MIRT449627)
- hsa-mir-574-5p (MIRT538935)
- hsa-mir-1277-5p (MIRT538936)
- hsa-mir-190a-3p (MIRT538937)
- hsa-mir-6867-5p (MIRT538938)
- hsa-mir-223-5p (MIRT538939)
- hsa-mir-5585-3p (MIRT541912)
- hsa-mir-5011-5p (MIRT541913)
- hsa-mir-511-3p (MIRT541914)
- hsa-mir-1273e (MIRT559185)
- hsa-mir-765 (MIRT559186)
- hsa-mir-766-5p (MIRT559187)
- hsa-mir-4459 (MIRT559188)
- hsa-mir-92b-3p (MIRT559189)
- hsa-mir-92a-3p (MIRT559190)
- hsa-mir-367-3p (MIRT559191)
- hsa-mir-363-3p (MIRT559192)
- hsa-mir-32-5p (MIRT559193)
- hsa-mir-25-3p (MIRT559194)
- hsa-mir-4521 (MIRT624546)
- hsa-mir-34c-3p (MIRT624547)
- hsa-mir-1197 (MIRT624548)
- hsa-mir-499b-3p (MIRT624549)
- hsa-mir-499a-3p (MIRT624550)
- hsa-mir-8485 (MIRT624551)
- hsa-mir-6816-3p (MIRT624552)
- hsa-mir-8080 (MIRT624553)
- hsa-mir-139-3p (MIRT628413)
- hsa-mir-8055 (MIRT660190)
- hsa-mir-6739-5p (MIRT660191)
- hsa-mir-6733-5p (MIRT660192)
- hsa-mir-3153 (MIRT660193)
- hsa-mir-6770-5p (MIRT660194)
- hsa-mir-1253 (MIRT660195)
- hsa-mir-9500 (MIRT660196)
- hsa-mir-6822-5p (MIRT660197)
- hsa-mir-6750-5p (MIRT660198)
- hsa-mir-5584-5p (MIRT660199)
- hsa-mir-6783-3p (MIRT660200)
- hsa-mir-1343-3p (MIRT660201)
- hsa-mir-4465 (MIRT660202)
- hsa-mir-26b-5p (MIRT660203)
- hsa-mir-26a-5p (MIRT660204)
- hsa-mir-1297 (MIRT660205)
- hsa-mir-23b-5p (MIRT660206)
- hsa-mir-23a-5p (MIRT660207)
- hsa-mir-6829-3p (MIRT660208)
- hsa-mir-6791-3p (MIRT660209)
- hsa-mir-4695-3p (MIRT660210)
- hsa-mir-4772-3p (MIRT660211)
- hsa-mir-1281 (MIRT660212)
- hsa-mir-6742-3p (MIRT660213)
- hsa-mir-6852-5p (MIRT660214)
- hsa-mir-660-3p (MIRT660215)
- hsa-mir-4485-5p (MIRT660216)
- hsa-mir-6736-3p (MIRT660217)
- hsa-mir-6890-3p (MIRT660218)
- hsa-mir-6513-3p (MIRT660219)
- hsa-mir-8062 (MIRT660220)
- hsa-mir-4755-5p (MIRT660221)
- hsa-mir-5006-3p (MIRT660222)
- hsa-mir-6832-3p (MIRT660223)
- hsa-mir-623 (MIRT660224)
- hsa-mir-5692a (MIRT660225)
- hsa-mir-548t-5p (MIRT660226)
- hsa-mir-548az-5p (MIRT660227)
- hsa-mir-548n (MIRT660228)
- hsa-mir-211-5p (MIRT660229)
- hsa-mir-204-5p (MIRT660230)
- hsa-mir-4762-3p (MIRT669341)
- hsa-mir-3192-3p (MIRT669342)
- hsa-mir-29a-5p (MIRT669343)
- hsa-mir-3920 (MIRT669344)
- hsa-mir-6787-3p (MIRT669345)
- hsa-mir-1304-3p (MIRT669346)
- hsa-mir-1237-3p (MIRT669347)
- hsa-mir-885-3p (MIRT733414)
- hsa-mir-1247-3p (MIRT761518)
- hsa-mir-1976 (MIRT763543)
- hsa-mir-3653-5p (MIRT766340)
- hsa-mir-3689d (MIRT767051)
- hsa-mir-377-5p (MIRT767360)
- hsa-mir-4279 (MIRT768288)
- hsa-mir-450b-3p (MIRT769876)
- hsa-mir-4713-3p (MIRT771398)
- hsa-mir-4722-3p (MIRT771456)
- hsa-mir-6086 (MIRT775491)
- hsa-mir-6134 (MIRT775927)
- hsa-mir-619-5p (MIRT776048)
- hsa-mir-638 (MIRT776150)
- hsa-mir-6506-5p (MIRT776597)
- hsa-mir-6727-3p (MIRT777858)
- hsa-mir-6747-3p (MIRT778247)
- hsa-mir-6802-3p (MIRT779500)
- hsa-mir-6851-5p (MIRT780389)
- hsa-mir-6880-5p (MIRT780815)
- hsa-mir-769-3p (MIRT781954)
- hsa-mir-7847-3p (MIRT782133)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for BMPR1A
- Browse OriGene Inhibitory RNA Products For BMPR1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMPR1A
- genomics-online: shRNA clones - Search for available BMPR1A shRNA products
- Overview of 174 available BMPR1A gene related products
Clone Products
- Sino Biological Human cDNA Clone for BMPR1A
- Addgene plasmids for BMPR1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMPR1A
- Applied Biological Materials (abm): Clones for BMPR1A - Select products 50% OFF >
- * BMPR1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * BMPR1A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for 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
- Cell membrane; Single-pass type I membrane protein. Cell surface.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| nucleus | 1 |
| mitochondrion | 0 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
| GO:0005901 | colocalizes_with caveola | IMP | 15657086 |
| GO:0009897 | external side of plasma membrane | IDA | 24904118 |
| GO:0009986 | cell surface | IEA | -- |
Pathways & Interactions for BMPR1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptosis Pathway |
.39
|
|
| 2 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
| 3 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
| 4 | DREAM Repression and Dynorphin Expression |
BMP Pathway
.44
|
TOB in Osteoblast Signaling
.01
|
| 5 | Human Embryonic Stem Cell Pluripotency |
Factors Promoting Cardiogenesis in Vertebrates
.50
|
Human Embryonic Stem Cell Pluripotency
.50
|
Pathways by source for BMPR1A Gene
8 BioSystems pathways for BMPR1A Gene
2 Reactome pathways for BMPR1A Gene
5 KEGG pathways for BMPR1A Gene
1 R&D Systems pathway for BMPR1A Gene
4 Tocris pathways for BMPR1A Gene
11 Qiagen pathways for BMPR1A Gene
- Akt Signaling
- Antioxidant Action of Vitamin-C
- BMP Pathway
- Cardiomyocyte Differentiation through BMP Receptors
- Factors Promoting Cardiogenesis in Vertebrates
1 GeneTex pathway for BMPR1A Gene
Interacting Proteins for BMPR1A Gene
Selected Interacting proteins:
P36894-BMR1A_HUMAN
ENSP00000361107
for BMPR1A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for BMPR1A
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for BMPR1A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Dibotermin alfa | Approved, Investigational | Pharma | Target, ligand | 0 | ||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Manganese | Approved | Nutra | 48 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation | 0 | ||
| DMH-1 | Pharma | Selective BMP ALK2 receptor, Selective ALK2 inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
(4) 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 |
| LDN-212854 | BMP receptor inhibitor,potent and selective | 1432597-26-6 |
| ML347 | BMP receptor inhibitor,potent and selective | 1062368-49-3 |
Drug Products
- G Biosciences Human ALK-3/BMPR1A/BMPR-IA, Lyophilized
-
Creative Biomart
- Recombinant Human BMPR1A, His-tagged
- Recombinant Human Bone Morphogenetic Protein Receptor, Type IA, GST-tagged
- Recombinant Human Bone Morphogenetic Protein Receptor, Type IA, His-tagged
- Recombinant Human BMPR1A
- Recombinant Human Bone Morphogenetic Protein Receptor, Type IA
- Recombinant Human BMPR1A, Fc-tagged, Biotinylated
- Recombinant Human BMPR1A cell lysate
- Recombinant Human BMPR1A, Fc-tagged
- Recombinant Human BMPR1A, Fc-His tagged
- Recombinant Human BMPR-1A, His-tagged
- Recombinant Human BMPR1A Protein, Fc Chimera
- Recombinant Human BMPR1A protein, hIgG/His-tagged
- Recombinant Human BMPR1A Protein
- Recombinant Human BMPR1A Protein, GST-tagged (BMPR1A-281H)
- Recombinant Human BMPR1A Protein, Fc/His-tagged
- Recombinant Human BMPR1A Protein, GST-tagged (BMPR1A-279H)
- Recombinant Human BMPR1A Protein, MYC/DDK-tagged
- ApexBio compounds for BMPR1A
Transcripts for BMPR1A Gene
mRNA/cDNA for BMPR1A Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (108) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000638429 5632 bps (ENST00000638429.1)
- ENST00000372037 11255 bps (ENST00000372037.7)
- ENST00000636056 3233 bps (ENST00000636056.1)
- ENST00000635816 3238 bps (ENST00000635816.1)
- ENST00000480152 421 bps (ENST00000480152.2)
CRISPR Products
-
OriGene CRISPR knockouts for BMPR1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMPR1A
- genomics-online: gRNA clones - Search for available BMPR1A gRNA products
- Overview of 174 available BMPR1A gene related products
- Applied Biological Materials (abm): CRISPR Clones for BMPR1A - Select products 50% OFF >
- * BMPR1A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
Santa Cruz Biotechnology (SCBT) CRISPR for BMPR1A
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for BMPR1A
- Browse OriGene Inhibitory RNA Products For BMPR1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMPR1A
- genomics-online: shRNA clones - Search for available BMPR1A shRNA products
- Overview of 174 available BMPR1A gene related products
Clone Products
- Sino Biological Human cDNA Clone for BMPR1A
- Addgene plasmids for BMPR1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMPR1A
- Applied Biological Materials (abm): Clones for BMPR1A - Select products 50% OFF >
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- * BMPR1A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for BMPR1A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Hair (Integumentary System)
- Fetal Inner Root Sheath Cells Inner Root Sheath
- Dermal Condensate Cells Dermal Papilla
- Zigzag Dermal Papilla Cells Dermal Papilla
- Fetal Hair Placode Cells Hair Follicle
- Fetal Hair Shaft Cuticle Cells Hair Shaft
-
Bone (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Endochondral Preosteoblasts Stylopod Perichondrium
- Endochondral Osteoblasts Rostral Endochondral Facial Bones
- Endochondral Preosteoblasts Zeugopod Perichondrium
- Endochondral Preosteoblasts Rib
-
Epithelial Cells
- Fetal Inner Root Sheath Cells Inner Root Sheath
- Mature Choroid Plexus Cells Choroid Plexus
- Fetal Hair Placode Cells Hair Follicle
- Fetal Hair Shaft Cuticle Cells Hair Shaft
- Fetal Medulla Cells Hair Shaft
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
- Choroid Plexus Progenitor Cells Choroid Plexus
- Hypothalamus
- Cerebellum
- Medulla Oblongata
- Neural Tube (Nervous System)
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Bone Marrow Stromal Cells Pelvic Girdle
- Mesenchymal Condensate Cells Stylopod
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Mesenchymal Condensate Cells Stylopod
- Mesenchymal Condensate Cells Zeugopod
- Blood (Hematopoietic System)
-
Dermis (Integumentary System)
- Dermal Condensate Cells Dermal Papilla
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Adipose (Muscoskeletal System)
- Common Preadipocyte Lateral Plate Mesoderm
- Visceral White Preadipocytes Visceral White Adipose
- Subcutaneous White Preadipocytes Body Subcutaneous White Adipose
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Metanephros
-
Head Mesenchyme (Muscoskeletal System)
- Smooth Muscle Cells Prechordal Mesenchyme
- Paraxial Mesoderm Cells Branchial Arch 1
- Mesenchymal Stem Cells
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Common Preadipocyte Lateral Plate Mesoderm
-
Smooth Muscle (Muscoskeletal System)
- Smooth Muscle Cells Prechordal Mesenchyme
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Skeletal Muscle (Muscoskeletal System)
- Paraxial Mesoderm Cells Branchial Arch 1
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
- Thyroid (Endocrine System)
- Gut Tube (Gastrointestinal Tract)
- Intestine (Gastrointestinal Tract)
- Umbilical Cord (Extraembryonic Tissues)
- NULL (Uncategorized)
- Tooth (Integumentary System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BMPR1A Gene
NURSA nuclear receptor signaling pathways regulating expression of BMPR1A Gene:
BMPR1ASOURCE GeneReport for Unigene cluster for BMPR1A Gene:
Hs.524477mRNA Expression by UniProt/SwissProt for BMPR1A Gene:
P36894-BMR1A_HUMAN
Tissue specificity:
Highly expressed in skeletal muscle.
Evidence on tissue expression from TISSUES for BMPR1A Gene
- Intestine(2.6)
- Heart(2.5)
- Muscle(2.3)
- Nervous system(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BMPR1A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- skeletal muscle
- urinary
Regions:
Head and neck:
- ear
Thorax:
- heart
Abdomen:
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- anus
- ovary
- rectum
- uterus
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for BMPR1A
-
OriGene qPCR primer pairs and template standards for BMPR1A
- genomics-online: primer clones - Search for available BMPR1A Primer products
- Overview of 174 available BMPR1A gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BMPR1A 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BMPR-IA 33 |
|
OneToOne | |
| BMPR1A 32 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | BMPR1A 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BMPR1A 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bmpr1a 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BMPR1A 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Bmpr1a 32 |
|
||
| chicken (Gallus gallus) |
Aves | BMPR1A 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BMPR1A 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | bmpr1a 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | bmpr1aa 33 |
|
OneToMany | |
| bmpr1ab 33 |
|
OneToMany | |||
| bmpr1a 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | babo 34 |
|
|
|
| tkv 33 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | daf-1 34 |
|
|
|
| sma-6 34 |
|
|
- Species where no ortholog for BMPR1A was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for BMPR1A: view image
Paralogs for BMPR1A Gene
Paralogs for BMPR1A Gene
(8) SIMAP similar genes for BMPR1A Gene using alignment to 2 proteins:
- BMR1A_HUMAN
- B5BUG9_HUMAN
Pseudogenes.org Pseudogenes for BMPR1A Gene
Variants for BMPR1A Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1021443408 | uncertain-significance, Hereditary cancer-predisposing syndrome | 86,890,108(+) | C/G | coding_sequence_variant, missense_variant | |
| rs1032369061 | likely-benign, Juvenile polyposis syndrome | 86,917,298(+) | T/C | coding_sequence_variant, synonymous_variant | |
| rs1047677696 | conflicting-interpretations-of-pathogenicity, uncertain-significance, not specified, not provided, Hereditary cancer-predisposing syndrome | 86,876,013(+) | T/C | 5_prime_UTR_variant | |
| rs1053423400 | uncertain-significance, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome | 86,912,280(+) | C/T | coding_sequence_variant, missense_variant | |
| rs1057517581 | likely-benign, Juvenile polyposis syndrome | 86,921,507(+) | T/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv267e212 | CNV | loss | 25503493 |
| dgv491n106 | CNV | deletion | 24896259 |
| esv1482533 | CNV | insertion | 17803354 |
| esv2249804 | CNV | deletion | 18987734 |
| esv22608 | CNV | loss | 19812545 |
| esv2566276 | CNV | deletion | 19546169 |
| esv2759774 | CNV | gain+loss | 17122850 |
| esv2811 | CNV | loss | 18987735 |
| esv33714 | CNV | loss | 17666407 |
| esv3391392 | CNV | insertion | 20981092 |
| esv3546621 | CNV | deletion | 23714750 |
| esv3546624 | CNV | deletion | 23714750 |
| esv3579036 | CNV | loss | 25503493 |
| esv3579037 | CNV | loss | 25503493 |
| esv9067 | CNV | loss | 19470904 |
| nsv1141879 | OTHER | inversion | 24896259 |
| nsv428236 | CNV | loss | 18775914 |
| nsv478432 | CNV | novel sequence insertion | 20440878 |
| nsv517487 | CNV | gain+loss | 19592680 |
| nsv551795 | CNV | gain | 21841781 |
| nsv7481 | CNV | deletion | 18451855 |
| nsv7482 | CNV | insertion | 18451855 |
| nsv958319 | CNV | deletion | 24416366 |
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)
Additional Variant Information for BMPR1A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPR1A Gene
Disorders for BMPR1A Gene
(20) MalaCards diseases for BMPR1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polyposis syndrome, hereditary mixed, 2 |
|
|
| juvenile polyposis syndrome |
|
|
| generalized juvenile polyposis/juvenile polyposis coli |
|
|
| juvenile polyposis of infancy |
|
|
| hereditary mixed polyposis syndrome |
|
|
Search BMPR1A in MalaCards
View complete list of genes associated with diseases
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}.
Additional Disease Information for BMPR1A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for BMPR1A Gene
Publications for BMPR1A Gene
- 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 56
- The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. (PMID: 18823382) Calva-Cerqueira D … Howe JR (Clinical genetics 2009) 3 23 43 56
- High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. (PMID: 17873119) Aretz S … Friedl W (Journal of medical genetics 2007) 3 23 43 56
- The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. (PMID: 15235019) Howe JR … Lynch HT (Journal of medical genetics 2004) 3 23 43 56
- Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. (PMID: 12630959) Kim IJ … Park JG (Clinical genetics 2003) 3 4 23 56
ExternalLinks
Products for BMPR1A Gene
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- View all 2 R&D Systems BMPR1A (BMPR-IA/ALK-3) Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for BMPR1A
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- antibodies-online: Show 65 available BMPR1A Antibodies ranked by validation data
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- 1 IHC Antibody (anti-human)
- 58 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
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- antibodies-online: Show 44 available BMPR1A Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) CRISPR for BMPR1A
- Horizon Cell Lines for BMPR1A
- genomics-online: cdna clones - Search for available BMPR1A CDNA products
- Overview of 174 available BMPR1A gene related products
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for BMPR1A
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Sources for BMPR1A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
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