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General Information
ZIRC
ZFIN ID: ZDB-GENE-010504-1
Gene Name: nuclear receptor subfamily 5, group A, member 1a
Gene Symbol: nr5a1a    Nomenclature History

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Previous Names: nr5a4 (2), SF1-A (1), ff1b (4)

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(Including Attributions)
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)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
zf2083 Complex Unknown Unknown CRISPR
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
CRISPR1-nr5a1a 1
MO1-nr5a1a N/A 2
MO2-nr5a1a N/A 5
DISEASE ASSOCIATED WITH nr5a1a HUMAN ORTHOLOG
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
DISEASE ASSOCIATED WITH nr5a1a VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process positive regulation of transcription by RNA polymerase II (more)
Cellular Component nucleus (more)
Molecular Function DNA binding (more)
GO Terms (all 19)
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA nr5a1a-201 (1)    Ensembl 2531
nr5a1a-202 (1)    Ensembl 505
nr5a1a-203 (1)    Ensembl 1345
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
SignaFish
ANTIBODIES
Name Type Isotype Host Organism Assay Source Publications
Ab1-nr5a1a polyclonal Rabbit WB 1
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM nr5a1a
Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
TgBAC(nr5a1a:EGFP) nr5a1a EGFP Danio rerio 1 6
MARKER RELATIONSHIPS
nr5a1a Contained in: [BAC] CH73-176N22 (1) (order this), CH211-237H13 (1) (order this)
nr5a1a Encodes: [EST] af198086 (2) (order this)
SEQUENCE INFORMATION
Type Accession # Length (bp/aa) Analysis
RNA RefSeq:NM_131794 (1) 2522 bp
Genomic GenBank:CR936370 (1) 114220 bp
Select Tool
Polypeptide UniProtKB:F1QJG0 (1) 454 aa
Sequence Clusters UniGene:53400 (1)
Sequence Information (all 15)
ORTHOLOGY for nr5a1a ( Chr: 8 )
CITATIONS (66)