ZFIN ID: ZDB-GENE-010504-1 |
Gene Name: | nuclear receptor subfamily 5, group A, member 1a | ||||||
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Gene Symbol: | nr5a1a Nomenclature History | ||||||
Previous Names: | nr5a4 (2), SF1-A (1), ff1b (4) | ||||||
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Gene Type: | protein_coding_gene | ||||||
Location: | Chr: 8 Mapping Details/Browsers | ||||||
Description: | Exhibits DNA binding activity and DNA-binding transcription factor activity. Involved in several processes, including endocrine system development; hypothalamus development; and positive regulation of transcription by RNA polymerase II. Predicted to localize to the RNA polymerase II transcription factor complex. Human ortholog(s) of this gene implicated in 46 XY gonadal dysgenesis; Zellweger syndrome; premature ovarian failure; and spermatogenic failure 8. Is expressed in forebrain; gonad primordium; and pleuroperitoneal region. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1). | ||||||
Genome Resources: | Alliance (1), Gene:83916 (1), Ensembl(GRCz11):ENSDARG00000103176 (1) |
All Expression Data: | 57 figures from 30 publications |
Directly Submitted Expression Data: | 6 figures (10 images) from Thisse et al., 2008 [af198086] |
Wild-type Stages, Structures: | Segmentation:1-4 somites (10.33h-11.66h) to Adult (90d-730d, breeding adult) |
Curated Microarray Expression: | GEO (1) |
Allele | Type | Localization | Consequence | Mutagen | Suppliers |
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zf2083 | Complex | Unknown | Unknown | CRISPR |
Targeting Reagent | Created Alleles | Publications |
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CRISPR1-nr5a1a | 1 | |
MO1-nr5a1a | N/A | 2 |
MO2-nr5a1a | N/A | 5 |
Data: | 2 figures from 2 publications |
Observed in: |
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
46 XY gonadal dysgenesis | Alliance | 46XY sex reversal 3 | 612965 |
premature ovarian failure | Alliance | Adrenocortical insufficiency | 612964 |
Premature ovarian failure 7 | 612964 | ||
spermatogenic failure 8 | Alliance | Spermatogenic failure 8 | 613957 |
46, XX sex reversal 4 | 617480 |
Ontology | GO Term |
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Biological Process | positive regulation of transcription by RNA polymerase II (more) |
Cellular Component | nucleus (more) |
Molecular Function | DNA binding (more) |
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Type | Name | Length (nt) | Analysis | |
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mRNA |
nr5a1a-201
(1)
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2531 |
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nr5a1a-202
(1)
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505 |
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nr5a1a-203
(1)
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1345 |
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Browsers: UCSC, NCBI, Ensembl, ZFIN |
Name | Type | Isotype | Host Organism | Assay | Source | Publications |
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Ab1-nr5a1a | polyclonal | Rabbit | WB | 1 |
Construct | Regulatory Regions | Coding Sequences | Species | Tg Lines | Publications |
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TgBAC(nr5a1a:EGFP) | nr5a1a | EGFP | Danio rerio | 1 | 6 |
nr5a1a Contained in: | [BAC] CH73-176N22 (1) (order this), CH211-237H13 (1) (order this) |
nr5a1a Encodes: | [EST] af198086 (2) (order this) |
Type | Accession # | Length (bp/aa) | Analysis |
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RNA | RefSeq:NM_131794 (1) | 2522 bp |
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Genomic | GenBank:CR936370 (1) | 114220 bp | |
Polypeptide | UniProtKB:F1QJG0 (1) | 454 aa |
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Sequence Clusters | UniGene:53400 (1) |