Gene
hmbsa
- ID
- ZDB-GENE-040426-1375
- Name
- hydroxymethylbilane synthase a
- Symbol
- hmbsa Nomenclature History
- Previous Names
-
- hmbs
- zgc:64128
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to act upstream of or within peptidyl-pyrromethane cofactor linkage and tetrapyrrole biosynthetic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Is expressed in intermediate mesoderm. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- 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 |
---|---|---|---|---|---|
sa31452 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
acute intermittent porphyria | Alliance | Porphyria, acute intermittent | 176000 |
acute intermittent porphyria | Alliance | Porphyria, acute intermittent, nonerythroid variant | 176000 |
Encephalopathy, porphyria-related | 620704 | ||
Leukoencephalopathy, porphyria-related | 620711 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Binding_site | IPR022419 | Porphobilinogen deaminase, dipyrromethane cofactor binding site |
Domain | IPR022417 | Porphobilinogen deaminase, N-terminal |
Domain | IPR022418 | Porphobilinogen deaminase, C-terminal |
Family | IPR000860 | Porphobilinogen deaminase |
Homologous_superfamily | IPR036803 | Porphobilinogen deaminase, C-terminal domain superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | Porphobilinogen deaminase | Porphobilinogen deaminase, C-terminal | Porphobilinogen deaminase, C-terminal domain superfamily | Porphobilinogen deaminase, dipyrromethane cofactor binding site | Porphobilinogen deaminase, N-terminal |
---|---|---|---|---|---|---|---|
UniProtKB:Q7T336 | InterPro | 358 | |||||
UniProtKB:A0A0R4IQ55 | InterPro | 361 |
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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 | DKEY-151N15 | ZFIN Curated Data | |
Encodes | cDNA | MGC:64128 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_201154 (1) | 2006 nt | ||
Genomic | GenBank:BX294169 (1) | 73230 nt | ||
Polypeptide | UniProtKB:A0A0R4IQ55 (1) | 361 aa |
- Zhang, X., Yang, Y., Wei, Y., Zhao, Q., Lou, X. (2022) Blf and drl cluster synergistically regulate cell fate commitment during zebrafish primitive hematopoiesis. Development (Cambridge, England). 149(24)
- Niksirat, H., Siino, V., Steinbach, C., Levander, F. (2021) High-Resolution Proteomic Profiling Shows Sexual Dimorphism in Zebrafish Heart-Associated Proteins. Journal of Proteome Research. 20(8):4075-4088
- den Broeder, M.J., Ballangby, J., Kamminga, L.M., Aleström, P., Legler, J., Lindeman, L.C., Kamstra, J.H. (2020) Inhibition of methyltransferase activity of enhancer of zeste 2 leads to enhanced lipid accumulation and altered chromatin status in zebrafish. Epigenetics & chromatin. 13:5
- Moore, C., Richens, J.L., Hough, Y., Ucanok, D., Malla, S., Sang, F., Chen, Y., Elworthy, S., Wilkinson, R.N., Gering, M. (2018) Gfi1aa and Gfi1b set the pace for primitive erythroblast differentiation from hemangioblasts in the zebrafish embryo. Blood advances. 2:2589-2606
- den Broeder, M.J., Moester, M.J.B., Kamstra, J.H., Cenijn, P.H., Davidoiu, V., Kamminga, L.M., Ariese, F., de Boer, J.F., Legler, J. (2017) Altered Adipogenesis in Zebrafish Larvae Following High Fat Diet and Chemical Exposure Is Visualised by Stimulated Raman Scattering Microscopy. International Journal of Molecular Sciences. 18(4)
- Hurem, S., Martín, L.M., Brede, D.A., Skjerve, E., Nourizadeh-Lillabadi, R., Lind, O.C., Christensen, T., Berg, V., Teien, H.C., Salbu, B., Oughton, D.H., Aleström, P., Lyche, J.L. (2017) Dose-dependent effects of gamma radiation on the early zebrafish development and gene expression. PLoS One. 12:e0179259
- Hurem, S., Martín, L.M., Lindeman, L., Brede, D.A., Salbu, B., Lyche, J.L., Aleström, P., Kamstra, J.H. (2017) Parental exposure to gamma radiation causes progressively altered transcriptomes linked to adverse effects in zebrafish offspring. Environmental pollution (Barking, Essex : 1987). 234:855-863
- Kamstra, J.H., Sales, L.B., Aleström, P., Legler, J. (2017) Differential DNA methylation at conserved non-genic elements and evidence for transgenerational inheritance following developmental exposure to mono(2-ethylhexyl) phthalate and 5-azacytidine in zebrafish. Epigenetics & chromatin. 10:20
- Khezri, A., Fraser, T.W., Nourizadeh-Lillabadi, R., Kamstra, J.H., Berg, V., Zimmer, K.E., Ropstad, E. (2017) A Mixture of Persistent Organic Pollutants and Perfluorooctanesulfonic Acid Induces Similar Behavioural Responses, but Different Gene Expression Profiles in Zebrafish Larvae. International Journal of Molecular Sciences. 18(2)
- 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
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