Nr0b1
Gene Detail

Symbol Name ID

Nr0b1 nuclear receptor subfamily 0, group B, member 1 MGI:1352460

Synonyms

Ahc, Ahch, AHX, Dax1, DAX-1

Feature Type

protein coding gene

Genetic Map

Chromosome X

39.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)

Sequence Map

ChrX:86191764-86195947 bp, + strand From VEGA annotation of GRCm38   4184 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Nr0b1 ± 2 cM)

Gene Tree: Nr0b1

Human ortholog

NR0B1 nuclear receptor subfamily 0, group B, member 1 NCBI Gene ID 190
Human Synonyms: AHC, AHCH, AHX, DAX1, DAX-1, DSS, GTD, HHG, NROB1, SRXY2
Human ChrX:30322539-30327495 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human NR0B1 (2)

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

Mutations that inactivate this X-linked gene result in abnormal repoductive development in the hemizygote, ranging from defects in testes development and spermatogenesis to complete male to female sex reversal depending on genetic background.

 
Human Diseases Modeled Using Mouse Nr0b1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (58 annotations)

Process	adrenal gland development, cell differentiation, ...
Component	cytoplasm, membrane, ...
Function	AF-2 domain binding, DNA binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (39 records)
Data Summary: Results (278)    Tissues (192)    Images (31)
Theiler Stages: 2, 3, 4, 5, 6, 17, 18, 19, 20, 21, 22, 23, 24, 28

Assay Type	Results
Immunohistochemistry	6
RNA in situ	158
RT-PCR	114

cDNA source data(9)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(23) Genomic(6) cDNA(9) Primer pair(7) Other(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000017945 (Evidence)
Ensembl Gene Model	ENSMUSG00000025056 (Evidence)
Entrez Gene	11614 (Evidence)
UniGene	5180
DFCI	TC1585098
DoTS	DT.50316329, DT.55217260, DT.94154687
PDB	3F5C
Consensus CDS Project	CCDS30260.1
International Mouse Knockout Project Status	Nr0b1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017945	VEGA Gene Model | MGI Sequence Detail	4184	C57BL/6J
transcript	OTTMUST00000043377	VEGA | MGI Sequence Detail	1808	Not Applicable
polypeptide	OTTMUSP00000019489	VEGA | MGI Sequence Detail	472	Not Applicable

All sequences(22) RefSeq(2) UniProt(2)

Polymorphisms

All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs(42 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008946	Nuclear hormone receptor, ligand-binding
InterPro	IPR000536	Nuclear hormone receptor, ligand-binding, core
InterPro	IPR025900	Nuclear receptor repeat
InterPro	IPR001723	Steroid hormone receptor
Protein Ontology	PR:000011390	nuclear receptor subfamily 0 group B member 1

References

(Earliest) J:32081 Swain A, et al., Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet. 1996 Apr;12(4):404-9
(Latest) J:187360 McKean DM, et al., Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly. Biol Open. 2012;1:874-883
All references(103)

Other accession IDs

MGD-MRK-33777, MGD-MRK-37435, MGI:108393