Homo sapiens Gene: NR0B1
Summary
InnateDB Gene IDBG-53730.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NR0B1
Gene Name nuclear receptor subfamily 0, group B, member 1
Synonyms AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NROB1; SRXY2;
Species Homo sapiens
Ensembl Gene ENSG00000169297
Encoded Proteins
nuclear receptor subfamily 0, group B, member 1
nuclear receptor subfamily 0, group B, member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:30304206-30309598
Strand Reverse strand
Band p21.2
Transcripts
ENST00000378970 ENSP00000368253
ENST00000378963 ENSP00000368246
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 25 interaction(s) predicted by orthology.
Experimentally validated
Total 21 [view]
Protein-Protein 21 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 25 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0003714 transcription corepressor activity
GO:0003723 RNA binding
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019904 protein domain specific binding
GO:0032448 DNA hairpin binding
GO:0035258 steroid hormone receptor binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0050682 AF-2 domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006694 steroid biosynthetic process
GO:0007283 spermatogenesis
GO:0007530 sex determination
GO:0008104 protein localization
GO:0008406 gonad development
GO:0008584 male gonad development
GO:0010467 gene expression
GO:0021854 hypothalamus development
GO:0021983 pituitary gland development
GO:0030154 cell differentiation
GO:0030238 male sex determination
GO:0030325 adrenal gland development
GO:0030522 intracellular receptor signaling pathway
GO:0033144 negative regulation of intracellular steroid hormone receptor signaling pathway
GO:0033327 Leydig cell differentiation
GO:0035902 response to immobilization stress
GO:0043401 steroid hormone mediated signaling pathway
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045596 negative regulation of cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0060008 Sertoli cell differentiation
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0042788 polysomal ribosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Validated nuclear estrogen receptor beta network
Validated nuclear estrogen receptor alpha network
Regulation of Androgen receptor activity
Cross-References
SwissProt P51843
TrEMBL A6NNU8 F1D8P4
UniProt Splice Variant
Entrez Gene 190
UniGene Hs.268490
RefSeq NM_000475
HUGO HGNC:7960
OMIM 300473
CCDS CCDS14223
HPRD
IMGT
EMBL AC005185 AC005926 BC011564 CH471074 HQ692832 S74720 U31929
GenPept AAB32751 AAC13875 AAH11564 ADZ17343 EAW99051
RNA Seq Atlas 190