Gene
bmpr1ab
- ID
- ZDB-GENE-040912-150
- Name
- bone morphogenetic protein receptor, type IAb
- Symbol
- bmpr1ab Nomenclature History
- Previous Names
-
- alk3b (1)
- wu:fe05b06
- wu:fe06e10
- zgc:92227
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable transforming growth factor beta receptor activity, type I. Acts upstream of or within BMP signaling pathway; circulatory system development; and dorsal/ventral pattern formation. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including blastoderm; blastodisc; cardinal system; margin; and ovarian follicle. 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
- 10 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Little et al., 2009
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la012165Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la018163Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la018164Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la018166Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la018167Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa28 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16062 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa22103 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-bmpr1ab | N/A | (4) |
| MO2-bmpr1ab | N/A | (5) |
| MO3-bmpr1ab | 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:Q66HY1 | InterPro | 534 | ||||||||
| UniProtKB:A0A8M1N2A7 | InterPro | 535 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bmpr1ab-201
(1)
|
Ensembl | 3,258 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-103O20 | ZFIN Curated Data | |
| Contained in | BAC | CH211-135B5 | ZFIN Curated Data | |
| Encodes | EST | fe05b06 | ZFIN Curated Data | |
| Encodes | EST | fe06e10 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:92227 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001004585 (1) | 3442 nt | ||
| Genomic | GenBank:CR847541 (1) | 178133 nt | ||
| Polypeptide | UniProtKB:A0A8M1N2A7 (1) | 535 aa |
- Lin, Q., Du, X., Ren, F., Liu, Y., Gong, G., Ge, S., Li, W., Li, Z., Zhou, L., Duan, M., Li, X.Y., Wang, G.Z., Xiao, R., Gui, J.F., Mei, J. (2025) Anti-Müllerian hormone signalling sustains circadian homeostasis in zebrafish. Nature communications. 16:43594359
- 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
- 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
- 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
- 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):
- 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):
- Allen, R.S., Tajer, B., Shore, E.M., Mullins, M.C. (2020) Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish. eLIFE. 9:
- Ka, J., Kim, J.D., Pak, B., Han, O., Choi, W., Kim, H., Jin, S.W. (2020) Bone Morphogenetic Protein Signaling Restricts Proximodistal Extension of the Ventral Fin Fold. Frontiers in cell and developmental biology. 8:603306
- Niu, X., Subramanian, A., Hwang, T.H., Schilling, T.F., Galloway, J.L. (2020) Tendon Cell Regeneration Is Mediated by Attachment Site-Resident Progenitors and BMP Signaling. Current biology : CB. 30(17):3277-3292.e5
- Romano, S., Kaufman, O.H., Marlow, F.L. (2020) Loss of dmrt1 restores female fates in the absence of cyp19a1a but not rbpms2a/b. Development (Cambridge, England). 147(18):
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