Gene
egln1b
- ID
- ZDB-GENE-040718-338
- Name
- egl-9 family hypoxia-inducible factor 1b
- Symbol
- egln1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable ferrous iron binding activity and peptidyl-proline 4-dioxygenase activity. Predicted to be involved in cellular response to hypoxia and regulation of neuron apoptotic process. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in familial erythrocytosis 3; polycythemia; and renal cell carcinoma. Orthologous to human EGLN1 (egl-9 family hypoxia inducible factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6892887 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ihb1229 | Allele with one deletion | Exon 1 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-egln1b | (2) | |
| CRISPR2-egln1b | Dou et al., 2024 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial erythrocytosis 3 | Alliance | Erythrocytosis, familial, 3 | 609820 |
| [Hemoglobin, high altitude adaptation] | 609070 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002893 | Zinc finger, MYND-type |
| Domain | IPR005123 | Oxoglutarate/iron-dependent dioxygenase domain |
| Domain | IPR006620 | Prolyl 4-hydroxylase, alpha subunit |
| Domain | IPR044862 | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain |
| Family | IPR051559 | Hypoxia-inducible factor prolyl hydroxylases |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Hypoxia-inducible factor prolyl hydroxylases | Oxoglutarate/iron-dependent dioxygenase domain | Prolyl 4-hydroxylase, alpha subunit | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain | Zinc finger, MYND-type |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q756 | InterPro | 318 | |||||
| UniProtKB:F6P6J7 | InterPro | 358 | |||||
| UniProtKB:Q6DHH3 | InterPro | 335 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
egln1b-201
(1)
|
Ensembl | 2,335 nt | ||
| mRNA |
egln1b-202
(1)
|
Ensembl | 864 nt |
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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 | CH73-341B3 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-77M16 | ZFIN Curated Data | |
| Encodes | EST | fk45e02 | ||
| Encodes | EST | IMAGE:6892887 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:92314 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002595 (1) | 1948 nt | ||
| Genomic | GenBank:AL928980 (2) | 167387 nt | ||
| Polypeptide | UniProtKB:F6P6J7 (1) | 358 aa |
- Dou, X., Chen, Z., Liu, Y., Li, Y., Ye, J., Lu, L. (2024) Zebrafish mutants in egln1 display a hypoxic response and develop polycythemia. Life sciences. 344:122564
- Germeys, C., Vandoorne, T., Davie, K., Poovathingal, S., Heeren, K., Vermeire, W., Nami, F., Moisse, M., Quaegebeur, A., Sierksma, A., Rué, L., Sicart, A., Eykens, C., De Cock, L., De Strooper, B., Carmeliet, P., Van Damme, P., De Bock, K., Van Den Bosch, L. (2024) Targeting EGLN2/PHD1 protects motor neurons and normalizes the astrocytic interferon response. Cell Reports. 43:114719114719
- Jia, P.P., Chandrajith, R., Junaid, M., Li, T.Y., Li, Y.Z., Wei, X.Y., Liu, L., Pei, D.S. (2023) Elucidating environmental factors and their combined effects on CKDu in Sri Lanka using zebrafish. Environmental pollution (Barking, Essex : 1987). 332:121967
- Fan, S., Wang, J., Yu, G., Rong, F., Zhang, D., Xu, C., Du, J., Li, Z., Ouyang, G., Xiao, W. (2020) TET is targeted for proteasomal degradation by the PHD-pVHL pathway to reduce DNA hydroxymethylation. The Journal of biological chemistry. 295(48):16299-16313
- Ma, Y., Wu, Y., Xia, Z., Li, J., Li, X., Xu, P., Zhou, X., Xue, M. (2019) Anti-Hypoxic Molecular Mechanisms of Rhodiola crenulata Extract in Zebrafish as Revealed by Metabonomics. Frontiers in pharmacology. 10:1356
- Hyvarinen, J., Parikka, M., Sormunen, R., Ramet, M., Tryggvason, K., Kivirikko, K.I., Myllyharju, J., and Koivunen, P. (2010) Deficiency of a transmembrane prolyl 4-hydroxylase in the zebrafish leads to basement membrane defects and compromised kidney function. The Journal of biological chemistry. 285(53):42023-42032
- van Rooijen, E., Voest, E.E., Logister, I., Korving, J., Schwerte, T., Schulte-Merker, S., Giles, R.H., and van Eeden, F.J. (2009) Zebrafish mutants in the von Hippel-Lindau (VHL) tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia. Blood. 113(25):6449-6460
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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