Gene
bmpr1aa
- ID
- ZDB-GENE-000502-1
- Name
- bone morphogenetic protein receptor, type IAa
- Symbol
- bmpr1aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable transforming growth factor beta receptor activity, type I. Acts upstream of or within with a positive effect on SMAD protein signal transduction. Acts upstream of or within BMP signaling pathway; circulatory system development; and dorsal/ventral pattern formation. Part of BMP receptor complex. Is expressed in several structures, including blastoderm; digestive system; germ ring; ovarian follicle; and posterior cardinal vein. Human ortholog(s) of this gene implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Orthologous to human BMPR1A (bone morphogenetic protein receptor type 1A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu4087 | Allele with one point mutation | Unknown | Missense | ENU | |
| la010910Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la011473Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la018458Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la027404Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| p3 | Allele with one delins | Unknown | Intron Gain, Premature Stop | CRISPR | |
| sa8457 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44785 | Allele with one point mutation | Unknown | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-bmpr1aa | (6) | |
| MO1-bmpr1aa | N/A | (6) |
| MO2-bmpr1aa | N/A | Ka et al., 2020 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary mixed polyposis syndrome 2 | Alliance | Polyposis syndrome, hereditary mixed, 2 | 610069 |
| juvenile polyposis syndrome | Alliance | Polyposis, juvenile intestinal | 174900 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Activin types I and II receptor domain | GS domain | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site | Ser/Thr protein kinase, TGFB receptor | Snake toxin-like superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QNI7 | InterPro | 427 | ||||||||
| UniProtKB:Q1RLX1 | InterPro | 527 | ||||||||
| UniProtKB:B3DJG0 | InterPro | 526 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bmpr1aa-201
(1)
|
Ensembl | 4,147 nt | ||
| mRNA |
bmpr1aa-204
(1)
|
Ensembl | 2,171 nt | ||
| mRNA |
bmpr1aa-205
(1)
|
Ensembl | 2,423 nt | ||
| ncRNA |
bmpr1aa-002
(1)
|
Ensembl | 474 nt | ||
| ncRNA |
bmpr1aa-003
(1)
|
Ensembl | 713 nt |
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Interactions and Pathways
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(5xUAS:cabmpr1aa-HA) |
|
| 1 | Jardin et al., 2018 | |
| Tg(col2a1a:bmpr1aa) |
|
| 1 | (2) | |
| Tg(Ola.Sp7:bmpr1aa) |
|
| 1 | (2) | |
| Tg(Ola.Sp7:dnbmpr1aa) |
|
| 1 | (2) | |
| Tg(UAS:bmpr1aa-IRES-EGFP) |
| 2 | Demal et al., 2019 | ||
| Tg(UAS:bmpr1aa,myl7:EGFP) |
|
| 1 | (3) | |
| Tg(UAS:bmpr1aa_R438H-IRES-EGFP) |
| 3 | Demal et al., 2019 | ||
| Tg(UAS:dnbmpr1aa-UTRnanos3) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-134M17 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-230G10 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:136731 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194991 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131621 (1) | 4159 nt | ||
| Genomic | GenBank:BX005174 (2) | 178371 nt | ||
| Polypeptide | UniProtKB:Q1RLX1 (1) | 527 aa |
- Zebrafish Nomenclature Committee (2025) Nomenclature Data Curation (2025). Nomenclature Committee Submission.
- Allen, R.S., Jones, W.D., Hale, M., Warder, B.N., Shore, E.M., Mullins, M.C. (2023) Reduced GS domain serine/threonine requirements of Fibrodysplasia Ossificans Progressiva mutant type I BMP receptor ACVR1 in the zebrafish. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 38(9):1364-1385
- Shih, H.Y., Chang, C.W., Chen, Y.C., Cheng, Y.C. (2023) Identification of the Time Period during Which BMP Signaling Regulates Proliferation of Neural Progenitor Cells in Zebrafish. International Journal of Molecular Sciences. 24(2):
- Cao, Z., Liu, G., Zhang, H., Wang, M., Xu, Y. (2022) Nox4 promotes osteoblast differentiation through TGF-beta signal pathway. Free radical biology & medicine. 193(Pt 2):595-609
- Tonelotto, V., Consorti, C., Facchinello, N., Trapani, V., Sabatelli, P., Giraudo, C., Spizzotin, M., Cescon, M., Bertolucci, C., Bonaldo, P. (2022) Collagen VI ablation in zebrafish causes neuromuscular defects during developmental and adult stages. Matrix biology : journal of the International Society for Matrix Biology. 112:39-61
- Wentworth, K.L., Lalonde, R.L., Groppe, J.C., Brewer, N., Moody, T., Hansberry, S., Taylor, K., Shore, E.M., Kaplan, F.S., Pignolo, R.J., Yelick, P.C., Hsiao, E.C. (2022) Functional testing of BMP pathway variants identified on whole exome sequencing in a patient with delayed-onset fibrodysplasia ossificans progressiva (FOP) using ACVR1R206H -specific human cellular and zebrafish models. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 37(11):2058-2076
- Yamaguchi, N., Zhang, Z., Schneider, T., Wang, B., Panozzo, D., Knaut, H. (2022) Rear traction forces drive adherent tissue migration in vivo. Nature cell biology. 24:194-204
- Knickmeyer, M.D., Mateo, J.L., Heermann, S. (2021) BMP Signaling Interferes with Optic Chiasm Formation and Retinal Ganglion Cell Pathfinding in Zebrafish. International Journal of Molecular Sciences. 22(9):
- Square, T.A., Sundaram, S., Mackey, E.J., Miller, C.T. (2021) Distinct tooth regeneration systems deploy a conserved battery of genes. EvoDevo. 12:4
- Tajer, B., Dutko, J.A., Little, S.C., Mullins, M.C. (2021) BMP heterodimers signal via distinct type I receptor class functions. Proceedings of the National Academy of Sciences of the United States of America. 118(15):
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