Gene
edem3
- ID
- ZDB-GENE-070801-5
- Name
- ER degradation enhancer, mannosidase alpha-like 3
- Symbol
- edem3 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Predicted to be involved in endoplasmic reticulum unfolded protein response; mannoprotein catabolic process; and ubiquitin-dependent glycoprotein ERAD pathway. Predicted to act upstream of or within carbohydrate metabolic process; protein alpha-1,2-demannosylation; and response to unfolded protein. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIv. Orthologous to human EDEM3 (ER degradation enhancing alpha-mannosidase like protein 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|---|---|
| sa10752 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa12132 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21258 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41174 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41175 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital disorder of glycosylation type IIv | Alliance | Congenital disorder of glycosylation, type IIv | 619493 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003137 | PA domain |
| Domain | IPR037322 | EDEM3, PA domain |
| Family | IPR001382 | Glycoside hydrolase family 47 |
| Family | IPR044674 | ER degradation-enhancing alpha-mannosidase-like protein 1/2/3 |
| Homologous_superfamily | IPR012341 | Six-hairpin glycosidase-like superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | EDEM3, PA domain | ER degradation-enhancing alpha-mannosidase-like protein 1/2/3 | Glycoside hydrolase family 47 | PA domain | PA domain superfamily | Seven-hairpin glycosidases | Six-hairpin glycosidase-like superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BEF7 | InterPro | 888 | |||||||
| UniProtKB:A0A8N7T766 | InterPro | 870 | |||||||
| UniProtKB:A0A8M2BE98 | InterPro | 872 | |||||||
| UniProtKB:A0A8M3AV33 | InterPro | 886 |
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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 | CH211-183C17 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-150D12 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005166932 (1) | 4611 nt | ||
| Genomic | GenBank:CR382344 (1) | 182390 nt | ||
| Polypeptide | UniProtKB:A0A8M2BEF7 (1) | 888 aa |
- Comparative Orthology
- Alliance
- Fung, C., Wilding, B., Schittenhelm, R.B., Bryson-Richardson, R.J., Bird, P.I. (2023) Expression of the Z Variant of α1-Antitrypsin Suppresses Hepatic Cholesterol Biosynthesis in Transgenic Zebrafish. International Journal of Molecular Sciences. 24(3):
- Postlethwait, J.H., Farnsworth, D.R., Miller, A.C. (2020) An intestinal cell type in zebrafish is the nexus for the SARS-CoV-2 receptor and the Renin-Angiotensin-Aldosterone System that contributes to COVID-19 comorbidities. ZFIN Direct Data Submission.
- Kansler, E.R., Verma, A., Langdon, E.M., Simon-Vermot, T., Yin, A., Lee, W., Attiyeh, M., Elemento, O., White, R.M. (2017) Melanoma genome evolution across species. BMC Genomics. 18:136
- Li, M., Li, Y., Weeks, O., Mijatovic, V., Teumer, A., Huffman, J.E., Tromp, G., Fuchsberger, C., Gorski, M., Lyytikäinen, L.P., Nutile, T., Sedaghat, S., Sorice, R., Tin, A., Yang, Q., Ahluwalia, T.S., Arking, D.E., Bihlmeyer, N.A., Böger, C.A., Carroll, R.J., Chasman, D.I., Cornelis, M.C., Dehghan, A., Faul, J.D., Feitosa, M.F., Gambaro, G., Gasparini, P., Giulianini, F., Heid, I., Huang, J., Imboden, M., Jackson, A.U., Jeff, J., Jhun, M.A., Katz, R., Kifley, A., Kilpeläinen, T.O., Kumar, A., Laakso, M., Li-Gao, R., Lohman, K., Lu, Y., Mägi, R., Malerba, G., Mihailov, E., Mohlke, K.L., Mook-Kanamori, D.O., Robino, A., Ruderfer, D., Salvi, E., Schick, U.M., Schulz, C.A., Smith, A.V., Smith, J.A., Traglia, M., Yerges-Armstrong, L.M., Zhao, W., Goodarzi, M.O., Kraja, A.T., Liu, C., Wessel, J., Boerwinkle, E., Borecki, I.B., Bork-Jensen, J., Bottinger, E.P., Braga, D., Brandslund, I., Brody, J.A., Campbell, A., Carey, D.J., Christensen, C., Coresh, J., Crook, E., Curhan, G.C., Cusi, D., de Boer, I.H., de Vries, A.P., Denny, J.C., Devuyst, O., Dreisbach, A.W., Endlich, K., Esko, T., Franco, O.H., Fulop, T., Gerhard, G.S., Glümer, C., Gottesman, O., Grarup, N., Gudnason, V., Harris, T.B., Hayward, C., Hocking, L., Hofman, A., Hu, F.B., Husemoen, L.L., Jackson, R.D., Jørgensen, T., Jørgensen, M.E., Kähönen, M., Kardia, S.L., König, W., Kooperberg, C., Kriebel, J., Launer, L.J., Lauritzen, T., Lehtimäki, T., Levy, D., Linksted, P., Linneberg, A., Liu, Y., Loos, R.J., Lupo, A., Meisinger, C., Melander, O., Metspalu, A., Mitchell, P., Nauck, M., Nürnberg, P., Orho-Melander, M., Parsa, A., Pedersen, O., Peters, A., Peters, U., Polasek, O., Porteous, D., Probst-Hensch, N.M., Psaty, B.M., Qi, L., Raitakari, O.T., Reiner, A.P., Rettig, R., Ridker, P.M., Rivadeneira, F., Rossouw, J.E., Schmidt, F., Siscovick, D., Soranzo, N., Strauch, K., Toniolo, D., Turner, S.T., Uitterlinden, A.G., Ulivi, S., Velayutham, D., Völker, U., Völzke, H., Waldenberger, M., Wang, J.J., Weir, D.R., Witte, D., Kuivaniemi, H., Fox, C.S., Franceschini, N., Goessling, W., Köttgen, A., Chu, A.Y. (2017) SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.. Journal of the American Society of Nephrology : JASN. 28(3):981-994
- 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
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