Gene
hjv
- ID
- ZDB-GENE-030131-651
- Name
- hemojuvelin BMP co-receptor
- Symbol
- hjv Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable coreceptor activity. Acts upstream of or within notochord development and somite development. Predicted to be located in side of membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including axial chorda mesoderm; liver; muscle; notochord; and telencephalon. Human ortholog(s) of this gene implicated in hemochromatosis and hemochromatosis type 2A. Orthologous to human HJV (hemojuvelin BMP co-receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Gibert et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la019797Tg | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-hjv | N/A | Gibert et al., 2011 |
| MO2-hjv | N/A | Gibert et al., 2011 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hemochromatosis type 2A | Alliance | Hemochromatosis, type 2A | 602390 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Repulsive guidance molecule | Repulsive guidance molecule, C-terminal | Repulsive guidance molecule, N-terminal |
|---|---|---|---|---|
|
UniProtKB:Q1JQE7
|
410 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hjv:amfra-MYC) |
|
| 1 | Chen et al., 2014 | |
| Tg(hjv:dnamfra-MYC) |
|
| 1 | Chen et al., 2014 | |
| Tg(hjv:GFP) |
|
| 1 | (4) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-181D19 | ZFIN Curated Data | |
| Encodes | EST | fb38f10 | ||
| Encodes | EST | ibd3464 | Samad et al., 2004 | |
| Encodes | cDNA | MGC:136698 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:162101 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193519 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045281 (1) | 1731 nt | ||
| Genomic | GenBank:CR854827 (1) | 198702 nt | ||
| Polypeptide | UniProtKB:Q1JQE7 (1) | 410 aa |
- Liu, D., Alhazmi, N., Matthews, H., Lee, M.K., Li, J., Hecht, J.T., Wehby, G.L., Moreno, L.M., Heike, C.L., Roosenboom, J., Feingold, E., Marazita, M.L., Claes, P., Liao, E.C., Weinberg, S.M., Shaffer, J.R. (2021) Impact of low-frequency coding variants on human facial shape. Scientific Reports. 11:748
- 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
- Gao, X., Metzger, U., Panza, P., Mahalwar, P., Alsheimer, S., Geiger, H., Maischein, H.M., Levesque, M.P., Templin, M., Söllner, C. (2015) A Floor-Plate Extracellular Protein-Protein Interaction Screen Identifies Draxin as a Secreted Netrin-1 Antagonist. Cell Reports. 12(4):694-708
- Chen, Z., Ballar, P., Fu, Y., Luo, J., Du, S., Fang, S. (2014) The E3 Ubiquitin Ligase gp78 Protects against ER Stress in Zebrafish Liver. Journal of genetics and genomics = Yi chuan xue bao. 41:357-68
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Bian, Y.H., Xu, C., Li, J., Xu, J., Zhang, H., and Du, S.J. (2011) Development of a transgenic zebrafish model expressing GFP in the notochord, somite and liver directed by the hfe2 gene promoter. Transgenic Research. 20(4):787-98
- Gibert, Y., Lattanzi, V.J., Zhen, A.W., Vedder, L., Brunet, F., Faasse, S.A., Babitt, J.L., Lin, H.Y., Hammerschmidt, M., and Fraenkel, P.G. (2011) BMP Signaling Modulates Hepcidin Expression in Zebrafish Embryos Independent of Hemojuvelin. PLoS One. 6(1):e14553
- Camus, L.M., and Lambert, L.A. (2007) Molecular evolution of hemojuvelin and the repulsive guidance molecule family. Journal of molecular evolution. 65(1):68-81
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
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