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Aliases for NR0B1 Gene

Aliases for NR0B1 Gene

  • Nuclear Receptor Subfamily 0 Group B Member 1 2 3 5
  • DSS-AHC Critical Region On The X Chromosome Protein 1 3 4
  • Nuclear Receptor Subfamily 0, Group B, Member 1 2 3
  • Nuclear Receptor DAX-1 3 4
  • DAX1 3 4
  • AHC 3 4
  • Dosage-Sensitive Sex Reversal 2
  • Nuclear Hormone Receptor 3
  • DAX-1 3
  • NROB1 3
  • SRXY2 3
  • AHCH 3
  • HHG 3
  • DSS 3
  • AHX 3
  • GTD 3

External Ids for NR0B1 Gene

Previous HGNC Symbols for NR0B1 Gene

  • AHC
  • DSS

Previous GeneCards Identifiers for NR0B1 Gene

  • GC0XM028821
  • GC0XM029006
  • GC0XM029524
  • GC0XM029683
  • GC0XM030082
  • GC0XM030232
  • GC0XM028059

Summaries for NR0B1 Gene

Entrez Gene Summary for NR0B1 Gene

  • 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]

GeneCards Summary for NR0B1 Gene

NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1) is a Protein Coding gene. Diseases associated with NR0B1 include Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism and 46Xy Sex Reversal 2, Dosage-Sensitive. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is NR0B2.

UniProtKB/Swiss-Prot for NR0B1 Gene

  • Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity).

Gene Wiki entry for NR0B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR0B1 Gene

Genomics for NR0B1 Gene

Regulatory Elements for NR0B1 Gene

Enhancers for NR0B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NR0B1 on UCSC Golden Path with GeneCards custom track

Promoters for NR0B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NR0B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR0B1 Gene

Chromosome:
X
Start:
30,304,206 bp from pter
End:
30,309,598 bp from pter
Size:
5,393 bases
Orientation:
Minus strand

Genomic View for NR0B1 Gene

Genes around NR0B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR0B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR0B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR0B1 Gene

Proteins for NR0B1 Gene

  • Protein details for NR0B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51843-NR0B1_HUMAN
    Recommended name:
    Nuclear receptor subfamily 0 group B member 1
    Protein Accession:
    P51843
    Secondary Accessions:
    • Q96F69

    Protein attributes for NR0B1 Gene

    Size:
    470 amino acids
    Molecular mass:
    51718 Da
    Quaternary structure:
    • Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2.

    Three dimensional structures from OCA and Proteopedia for NR0B1 Gene

    Alternative splice isoforms for NR0B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR0B1 Gene

Proteomics data for NR0B1 Gene at MOPED

Post-translational modifications for NR0B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR0B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NR0B1 (NR0B1)

No data available for DME Specific Peptides for NR0B1 Gene

Domains & Families for NR0B1 Gene

Gene Families for NR0B1 Gene

Suggested Antigen Peptide Sequences for NR0B1 Gene

Graphical View of Domain Structure for InterPro Entry

P51843

UniProtKB/Swiss-Prot:

NR0B1_HUMAN :
  • Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal LXXLL motifs.
  • Belongs to the nuclear hormone receptor family. NR0 subfamily.
Domain:
  • Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal LXXLL motifs.
Family:
  • Belongs to the nuclear hormone receptor family. NR0 subfamily.
genes like me logo Genes that share domains with NR0B1: view

Function for NR0B1 Gene

Molecular function for NR0B1 Gene

GENATLAS Biochemistry:
orphan nuclear (steroid/thyroid/retinoid) receptor,subfamily 0,member 1,dosage-sensitive sex reversal,adrenal hypoplasia congenita (DSS(SRVX)-AHC) critical region on the X chromosome,likely involved in testis and development,essential for the integrity of testicular germinal epithelium,not required for ovarian development,also expressed in the hypothalamus and pituitary,repressing STAR expression and suppressing steroidogenesis by binding to the STAR promoter,antagonizing testis determining factor SRY,also antagonizing synergy between FTZF1 and WT1,regulated by WT1 for gonadal differentiation,transcriptional suppressor of NR5A1
UniProtKB/Swiss-Prot Function:
Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity).

Gene Ontology (GO) - Molecular Function for NR0B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA,IDA 10848616
GO:0008134 transcription factor binding IPI 19651776
GO:0035258 steroid hormone receptor binding IPI 11875111
GO:0042803 protein homodimerization activity IPI 16709599
genes like me logo Genes that share ontologies with NR0B1: view
genes like me logo Genes that share phenotypes with NR0B1: view

Human Phenotype Ontology for NR0B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NR0B1 Gene

MGI Knock Outs for NR0B1:

Animal Model Products

miRNA for NR0B1 Gene

miRTarBase miRNAs that target NR0B1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NR0B1 Gene

Localization for NR0B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR0B1 Gene

Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NR0B1 Gene COMPARTMENTS Subcellular localization image for NR0B1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NR0B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 7990953
genes like me logo Genes that share ontologies with NR0B1: view

Pathways & Interactions for NR0B1 Gene

genes like me logo Genes that share pathways with NR0B1: view

Pathways by source for NR0B1 Gene

1 Qiagen pathway for NR0B1 Gene

SIGNOR curated interactions for NR0B1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NR0B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007283 spermatogenesis IEA --
GO:0007530 sex determination IEA --
GO:0008406 gonad development IMP 7990953
genes like me logo Genes that share ontologies with NR0B1: view

Drugs & Compounds for NR0B1 Gene

(12) Drugs for NR0B1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational Pharma Agonist, Target, stimulator 1950
Tretinoin Approved, Investigational Nutra Full agonist, Agonist, Target 215

(4) Additional Compounds for NR0B1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NR0B1: view

Transcripts for NR0B1 Gene

mRNA/cDNA for NR0B1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(49) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NR0B1 Gene

Nuclear receptor subfamily 0, group B, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NR0B1 Gene

No ASD Table

Relevant External Links for NR0B1 Gene

GeneLoc Exon Structure for
NR0B1
ECgene alternative splicing isoforms for
NR0B1

Expression for NR0B1 Gene

mRNA expression in normal human tissues for NR0B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR0B1 Gene

This gene is overexpressed in Adrenal Gland (x26.3) and Testis (x12.7).

Protein differential expression in normal tissues from HIPED for NR0B1 Gene

This gene is overexpressed in Lung (49.9) and Testis (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NR0B1 Gene



SOURCE GeneReport for Unigene cluster for NR0B1 Gene Hs.268490

genes like me logo Genes that share expression patterns with NR0B1: view

Protein tissue co-expression partners for NR0B1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for NR0B1 Gene

Orthologs for NR0B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NR0B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NR0B1 35
  • 80.99 (n)
  • 73.19 (a)
NR0B1 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR0B1 35
  • 83.12 (n)
  • 74.68 (a)
NR0B1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr0b1 35
  • 74.75 (n)
  • 65.74 (a)
Nr0b1 16
Nr0b1 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NR0B1 35
  • 99.72 (n)
  • 99.36 (a)
NR0B1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr0b1 35
  • 74.33 (n)
  • 65.03 (a)
oppossum
(Monodelphis domestica)
Mammalia NR0B1 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR0B1 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR0B1 35
  • 73.41 (n)
  • 64.2 (a)
NR0B1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR0B1 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487043 35
  • 61.58 (n)
  • 57.63 (a)
zebrafish
(Danio rerio)
Actinopterygii nr0b1 35
  • 61.38 (n)
  • 52.78 (a)
nr0b1 36
  • 47 (a)
OneToOne
Species with no ortholog for NR0B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NR0B1 Gene

ENSEMBL:
Gene Tree for NR0B1 (if available)
TreeFam:
Gene Tree for NR0B1 (if available)

Paralogs for NR0B1 Gene

Paralogs for NR0B1 Gene

(1) SIMAP similar genes for NR0B1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NR0B1: view

Variants for NR0B1 Gene

Sequence variations from dbSNP and Humsavar for NR0B1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_004738 X-linked adrenal hypoplasia congenital (XL-AHC)
VAR_004740 X-linked adrenal hypoplasia congenital (XL-AHC)
VAR_004741 X-linked adrenal hypoplasia congenital (XL-AHC)
VAR_004742 X-linked adrenal hypoplasia congenital (XL-AHC)
VAR_004743 X-linked adrenal hypoplasia congenital (XL-AHC)

Structural Variations from Database of Genomic Variants (DGV) for NR0B1 Gene

Variant ID Type Subtype PubMed ID
dgv505n21 CNV Gain 19592680

Variation tolerance for NR0B1 Gene

Residual Variation Intolerance Score: 36.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NR0B1 Gene

Human Gene Mutation Database (HGMD)
NR0B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR0B1 Gene

Disorders for NR0B1 Gene

MalaCards: The human disease database

(41) MalaCards diseases for NR0B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
  • x-linked adrenal hypoplasia congenital
46xy sex reversal 2, dosage-sensitive
  • dss
charcot-marie-tooth disease, type 1b
  • charcot-marie-tooth disease
charcot-marie-tooth disease, type 2j
  • charcot-marie-tooth disease type 2j
charcot-marie-tooth disease, type 2i
  • charcot-marie-tooth disease type 2i
- elite association - COSMIC cancer census association via MalaCards
Search NR0B1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NR0B1_HUMAN
  • 46,XY sex reversal 2 (SRXY2) [MIM:300018]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. {ECO:0000269 PubMed:9486644}. Note=The disease is caused by mutations affecting the gene represented in this entry. XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY gene develop as females. The single X chromosome in these individuals does not undergo X-chromosome inactivation; therefore, these individuals presumably carry 2 active copies of genes, including the NR0B1 gene, in the duplicated region. Individuals with deletion of this region develop as males. Genes within the dosage-sensitive sex reversal region are, therefore, not essential for testis development, but, when present in a double dose, interfere with testis formation.
  • X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]: Developmental disorder of the adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. It is characterized by the absence of the permanent zone of the adrenal cortex and by a structural disorganization of the glands. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. HHG is a condition resulting from or characterized by abnormally decreased gonadal function, with retardation of growth and sexual development. {ECO:0000269 PubMed:10323730, ECO:0000269 PubMed:10341858, ECO:0000269 PubMed:10675358, ECO:0000269 PubMed:11113848, ECO:0000269 PubMed:11443184, ECO:0000269 PubMed:11748852, ECO:0000269 PubMed:11788621, ECO:0000269 PubMed:12629128, ECO:0000269 PubMed:15800903, ECO:0000269 PubMed:7990958, ECO:0000269 PubMed:9003500, ECO:0000269 PubMed:9063431, ECO:0000269 PubMed:9360549, ECO:0000269 PubMed:9529340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NR0B1

Genetic Association Database (GAD)
NR0B1
Human Genome Epidemiology (HuGE) Navigator
NR0B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR0B1
genes like me logo Genes that share disorders with NR0B1: view

No data available for Genatlas for NR0B1 Gene

Publications for NR0B1 Gene

  1. Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers. (PMID: 16709599) Iyer A.K. … McCabe E.R.B. (Mol. Endocrinol. 2006) 3 4 23 67
  2. DAX-1A (NR0B1A) expression levels are extremely low compared to DAX-1 (NR0B1) in human steroidogenic tissues. (PMID: 18819054) Nakamura Y. … Rainey W.E. (Horm. Metab. Res. 2009) 3 23
  3. Nuclear receptor DAX1 in human prostate cancer: a novel independent biological modulator. (PMID: 18827407) Nakamura Y. … Sasano H. (Endocr. J. 2009) 3 23
  4. Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. (PMID: 19188450) Xu B. … Koenig R.J. (Mol. Cell. Biol. 2009) 3 23
  5. [A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia]. (PMID: 19199243) Xu M. … Zhou X.H. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009) 3 23

Products for NR0B1 Gene

Sources for NR0B1 Gene

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