Gene

nr5a1a

ID

ZDB-GENE-010504-1

Name

nuclear receptor subfamily 5, group A, member 1a

Symbol

nr5a1a Nomenclature History

Previous Names

nr5a4 (2)
SF1-A (1)
ff1b (4)

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 transcription, DNA-templated. Predicted to localize to RNA polymerase II transcription regulator complex. Is expressed in endocrine system; forebrain; gonad primordium; and interrenal primordium. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency; and spermatogenic failure 8. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1).

Genome Resources

Note

None

Expression

All Expression Data

58 figures from 31 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

Thisse Expression Data

af198086 (10 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nr5a1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
46,XX sex reversal 4	Alliance	46, XX 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

Associated With nr5a1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

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
Homologous_superfamily	IPR013088	Zinc finger, NHR/GATA-type
Homologous_superfamily	IPR035500	Nuclear hormone receptor-like domain superfamily

Domain Details Per Protein

Protein	Length	Nuclear hormone receptor	Nuclear hormone receptor family 5	Nuclear hormone receptor, ligand-binding domain	Nuclear hormone receptor-like domain superfamily	Zinc finger, NHR/GATA-type	Zinc finger, nuclear hormone receptor-type
UniProtKB:A0A0R4IN39 InterPro	136
UniProtKB:F1QJG0 InterPro	454
UniProtKB:Q9IAI9 InterPro	454
UniProtKB:A0A0R4ITX5 InterPro	369

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	nr5a1a-201 (1) Ensembl	2531 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	nr5a1a-202 (1) Ensembl	505 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	nr5a1a-203 (1) Ensembl	1345 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

SignaFish

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-nr5a1a	polyclonal	nr5a1a		Rabbit	WB		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Gene Tree: Ensembl

Citations