Gene
bmp1b
- ID
- ZDB-GENE-060818-2
- Name
- bone morphogenetic protein 1b
- Symbol
- bmp1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable metalloendopeptidase activity. Predicted to be involved in dorsal/ventral pattern formation and protein processing. Predicted to act upstream of or within proteolysis. Predicted to be active in extracellular space. Is expressed in margin. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 13. Orthologous to human BMP1 (bone morphogenetic protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ghersi et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa948 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8469 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11102 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa27675 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31799 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31800 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41729 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 7 of 7
Show
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| osteogenesis imperfecta type 13 | Alliance | Osteogenesis imperfecta, type XIII | 614856 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Bone morphogenetic protein 1/tolloid-like protein | CUB domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | Metallopeptidase, catalytic domain superfamily | NOTCH1 EGF-like calcium-binding domain | Peptidase M12A | Peptidase, metallopeptidase | Spermadhesin, CUB domain superfamily | Tolloid/BMP1 peptidase domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2B1Y0 | InterPro | 970 | |||||||||||||
| UniProtKB:Q2ABP0 | InterPro | 969 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-261L11 | ZFIN Curated Data |
1 - 1 of 1
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001039812 (1) | 3791 nt | ||
| Genomic | GenBank:CU571179 (2) | 151825 nt | ||
| Polypeptide | UniProtKB:A0A8M2B1Y0 (1) | 970 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | BMP1 | 8 | Amino acid sequence comparison (3) |
- Ghersi, J.J., Mahony, C.B., Bertrand, J.Y. (2019) bif1, a new BMP signaling inhibitor, regulates embryonic hematopoiesis in the zebrafish. Development (Cambridge, England). 146(6):
- Sun, J., Zhu, K., Guo, H., Zhang, N., Jiang, S., Zhang, D. (2019) Genome-wide comparative analysis of bone morphogenetic proteins : genomic structure, phylogeny, and expression patterns in the golden pompano, Trachinotus ovatus (Linnaeus, 1758). Fish physiology and biochemistry. 46(1):345-358
- Chen, L., Dong, C., Kong, S., Zhang, J., Li, X., Xu, P. (2017) Genome wide identification, phylogeny, and expression of bone morphogenetic protein genes in tetraploidized common carp (Cyprinus carpio). Gene. 627:157-163
- Venkatesan, A.M., Vyas, R., Gramann, A.K., Dresser, K., Gujja, S., Bhatnagar, S., Chhangawala, S., Gomes, C.B.F., Xi, H.S., Lian, C.G., Houvras, Y., Edwards, Y.J.K., Deng, A., Green, M., Ceol, C.J. (2017) Ligand-activated BMP signaling inhibits cell differentiation and death to promote melanoma. The Journal of Clinical Investigation. 128(1):294-308
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Huxley-Jones, J., Clarke, T.K., Beck, C., Toubaris, G., Robertson, D.L., and Boot-Handford, R.P. (2007) The evolution of the vertebrate metzincins; insights from Ciona intestinalis and Danio rerio. BMC Evolutionary Biology. 7(1):63
- Muraoka, O., Shimizu, T., Yabe, T., Nojima, H., Bae, Y.K., Hashimoto, H., and Hibi, M. (2006) Sizzled controls dorso-ventral polarity by repressing cleavage of the Chordin protein. Nature cell biology. 8(4):329-340
1 - 8 of 8
Show