Gene
heg1
- ID
- ZDB-GENE-040714-1
- Name
- heart development protein with EGF-like domains 1
- Symbol
- heg1 Nomenclature History
- Previous Names
-
- heg
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within cell-cell junction assembly and heart development. Predicted to be located in anchoring junction; extracellular region; and plasma membrane. Is expressed in cardiovascular system; central nervous system; somite; and ventral mesoderm. Orthologous to human HEG1 (heart development protein with EGF like domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151598 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| m552 | Allele with one point mutation | Exon 2 | Premature Stop | ENU | |
| nwc1 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| sa14122 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14693 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41490 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41491 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | NOTCH1 EGF-like calcium-binding domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A9C3V5 | InterPro | 977 | |||||
| UniProtKB:Q6R8J2 | InterPro | 977 |
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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 | DKEYP-73B1 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7151598 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:193581 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193583 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212968 (1) | 4550 nt | ||
| Genomic | GenBank:CR933561 (2) | 80892 nt | ||
| Polypeptide | UniProtKB:A9C3V5 (1) | 977 aa |
- Yin, J., Schellinx, N., Maggi, L., Gundel, K., Wiesner, C., Kotini, M.P., Lee, M., Phng, L.K., Belting, H.G., Affolter, M. (2024) Initiation of lumen formation from junctions via differential actomyosin contractility regulated by dynamic recruitment of Rasip1. Nature communications. 15:97149714
- Hu, M., Liu, P., Lu, S., Wang, Z., Lyu, Z., Liu, H., Sun, Y., Liu, F., Tian, J. (2021) Myocardial protective effect and transcriptome profiling of Naoxintong on cardiomyopathy in zebrafish. Chinese Medicine. 16:119
- Lee, M., Betz, C., Yin, J., Paatero, I., Schellinx, N., Carte, A.N., Wilson, C.W., Ye, W., Affolter, M., Belting, H.G. (2021) Control of dynamic cell behaviors during angiogenesis and anastomosis by Rasip1. Development (Cambridge, England). 148(15):
- Fontana, F., Haack, T., Reichenbach, M., Knaus, P., Puceat, M., Abdelilah-Seyfried, S. (2020) Antagonistic Activities of Vegfr3/Flt4 and Notch1b Fine-tune Mechanosensitive Signaling during Zebrafish Cardiac Valvulogenesis. Cell Reports. 32:107883
- Lu, S., Hu, M., Wang, Z., Liu, H., Kou, Y., Lyu, Z., Tian, J. (2020) Generation and Application of the Zebrafish heg1 Mutant as a Cardiovascular Disease Model. Biomolecules. 10(11):
- Donat, S., Lourenço, M., Paolini, A., Otten, C., Renz, M., Abdelilah-Seyfried, S. (2018) Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis. eLIFE. 7:e28939
- Münch, J., Grivas, D., González-Rajal, Á., Torregrosa-Carrión, R., de la Pompa, J.L. (2017) Notch signalling restricts inflammation and serpine1 expression in the dynamic endocardium of the regenerating zebrafish heart.. Development (Cambridge, England). 144(8):1425-1440
- 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
- Kannan, R.R., Iniyan, A.M., Vincent, S.G. (2015) Chemical genetic effects of Sargassum wightii during embryonic development in zebrafish. Indian journal of pharmacology. 47:195-8
- Renz, M., Otten, C., Faurobert, E., Rudolph, F., Zhu, Y., Boulday, G., Duchene, J., Mickoleit, M., Dietrich, A.C., Ramspacher, C., Steed, E., Manet-Dupé, S., Benz, A., Hassel, D., Vermot, J., Huisken, J., Tournier-Lasserve, E., Felbor, U., Sure, U., Albiges-Rizo, C., Abdelilah-Seyfried, S. (2015) Regulation of β1 Integrin-Klf2-Mediated Angiogenesis by CCM Proteins. Developmental Cell. 32:181-190
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