Gene
nr5a1b
- ID
- ZDB-GENE-040702-6
- Name
- nuclear receptor subfamily 5, group A, member 1b
- Symbol
- nr5a1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in hormone-mediated signaling pathway; regulation of transcription by RNA polymerase II; and tissue development. Predicted to act upstream of or within phosphorylation and regulation of DNA-templated transcription. Predicted to be located in nucleus. Predicted to be part of RNA polymerase II transcription regulator complex. Is expressed in central nervous system; heart; interrenal primordium; musculature system; and reproductive system. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency 7; and spermatogenic failure 8. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- ay212920 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Yan et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b1389 | Allele with one deletion | Exon 4 | Unknown | CRISPR | |
| sa12365 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15009 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15470 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23855 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37234 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| 46,XX sex reversal 4 | Alliance | 46XX sex reversal 4 | 617480 |
| 46,XY sex reversal 3 | Alliance | 46XY sex reversal 3 | 612965 |
| primary ovarian insufficiency 7 | Alliance | Adrenocortical insufficiency | 612964 |
| primary ovarian insufficiency 7 | Alliance | Premature ovarian failure 7 | 612964 |
| spermatogenic failure 8 | Alliance | Spermatogenic failure 8 | 613957 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000536 | Nuclear hormone receptor, ligand-binding domain |
| Domain | IPR001628 | Zinc finger, nuclear hormone receptor-type |
| Family | IPR001723 | Nuclear hormone receptor |
| Family | IPR016355 | Nuclear hormone receptor family 5-like |
| Homologous_superfamily | IPR013088 | Zinc finger, NHR/GATA-type |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Nuclear hormone receptor | Nuclear hormone receptor family 5-like | Nuclear hormone receptor, ligand-binding domain | Nuclear hormone receptor-like domain superfamily | Zinc finger, NHR/GATA-type | Zinc finger, nuclear hormone receptor-type |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q800U8 | InterPro | 502 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nr5a1b-201
(1)
|
Ensembl | 2,555 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 | CH73-57C17 | ZFIN Curated Data | |
| Contained in | BAC | CH73-385P1 | ZFIN Curated Data | |
| Contained in | BAC | CH211-167P9 | ||
| Encodes | EST | ay212920 | (2) | |
| Encodes | cDNA | MGC:193828 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193844 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212834 (1) | 2554 nt | ||
| Genomic | GenBank:AL772368 (1) | 162620 nt | ||
| Polypeptide | UniProtKB:Q800U8 (1) | 502 aa |
- Liu, Y., Kassack, M.E., McFaul, M.E., Christensen, L.N., Siebert, S., Wyatt, S.R., Kamei, C.N., Horst, S., Arroyo, N., Drummond, I.A., Juliano, C.E., Draper, B.W. (2022) Single-cell transcriptome reveals insights into the development and function of the zebrafish ovary. eLIFE. 11:
- Yan, Y.L., Titus, T., Desvignes, T., BreMiller, R., Batzel, P., Sydes, J., Farnsworth, D., Dillon, D., Wegner, J., Phillips, J.B., Peirce, J., Dowd, J., Undiagnosed Diseases Network, Buck, C.L., Miller, A., Westerfield, M., Postlethwait, J.H. (2021) A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs. Genetics. 217(2)
- Schmid, S., Willi, R.A., Salgueiro-González, N., Fent, K. (2019) Effects of new generation progestins, including as mixtures and in combination with other classes of steroid hormones, on zebrafish early life stages. The Science of the total environment. 709:136262
- Hou, L.P., Chen, H., Tian, C.E., Shi, W.J., Liang, Y., Wu, R.R., Fang, X.W., Zhang, C.P., Liang, Y.Q., Xie, L. (2018) The progestin norethindrone affects sex differentiation and alters transcriptional profiles of genes along the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal axes in juvenile zebrafish Dario renio. Aquatic toxicology (Amsterdam, Netherlands). 201:31-39
- Yang, Q., Yang, X., Liu, J., Chen, Y., Shen, S. (2018) Effects of exposure to BPF on development and sexual differentiation during early life stages of zebrafish (Danio rerio). Comparative biochemistry and physiology. Toxicology & pharmacology : CBP. 210:44-56
- Yang, Y.J., Wang, Y., Li, Z., Zhou, L., Gui, J.F. (2017) Sequential, Divergent, and Cooperative Requirements of Foxl2a and Foxl2b in Ovary Development and Maintenance of Zebrafish.. Genetics. 205(4):1551-1572
- Baker, B.B., Yee, J.S., Meyer, D.N., Yang, D., Baker, T.R. (2016) Histological and Transcriptomic Changes in Male Zebrafish Testes Due to Early Life Exposure to Low Level 2,3,7,8-Tetrachlorodibenzo-p-Dioxin. Zebrafish. 13:413-423
- Cheng, Y.Y., Tao, W.J., Chen, J.L., Sun, L.N., Zhou, L.Y., Song, Q., Wang, D.S. (2015) Genome-wide identification, evolution and expression analysis of nuclear receptor superfamily in Nile tilapia, Oreochromis niloticus. Gene. 569(1):141-52
- Hua, J., Han, J., Guo, Y., Zhou, B. (2015) The progestin levonorgestrel affects sex differentiation in zebrafish at environmentally relevant concentrations. Aquatic toxicology (Amsterdam, Netherlands). 166:1-9
- Pradhan, A., Asnake, S., Kharlyngdoh, J.B., Modig, C., Olsson, P.E. (2015) In silico and biological analysis of anti-androgen activity of the brominated flame retardants ATE, BATE and DPTE in zebrafish. Chemico-biological interactions. 233:35-45
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