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Aliases for NR0B1 Gene

Aliases for NR0B1 Gene

  • Nuclear Receptor Subfamily 0, Group B, Member 1 2 3
  • DAX1 3 4 6
  • AHC 3 4 6
  • DSS-AHC Critical Region On The X Chromosome Protein 1 3 4
  • Nuclear Receptor DAX-1 3 4
  • SRXY2 3 6
  • AHX 3 6
  • Nuclear Receptor Subfamily 0 Group B Member 1 3
  • Dosage-Sensitive Sex Reversal 2
  • Nuclear Hormone Receptor 3
  • DAX-1 3
  • NROB1 3
  • AHCH 3
  • GTD 3
  • HHG 3
  • DSS 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 GPCR Pathway and Gene Expression. GO annotations related to this gene include RNA 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NR0B1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    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:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for NR0B1 Gene

Domains for NR0B1 Gene

Gene Families for NR0B1 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

Suggested Antigen Peptide Sequences for NR0B1 Gene

Graphical View of Domain Structure for InterPro Entry

P51843

UniProtKB/Swiss-Prot:

NR0B1_HUMAN :
  • P51843
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:0003677 DNA binding IDA 7990953
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0003707 steroid hormone receptor activity IEA --
GO:0003714 transcription corepressor activity IMP 19651776
GO:0003723 RNA binding IDA 10848616
genes like me logo Genes that share ontologies with NR0B1: view
genes like me logo Genes that share phenotypes with NR0B1: view

Animal Models for NR0B1 Gene

MGI Knock Outs for NR0B1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NR0B1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NR0B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10848616
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 16709599
GO:0016020 membrane IDA 10848616
GO:0042788 polysomal ribosome IDA 10848616
genes like me logo Genes that share ontologies with NR0B1: view

Pathways 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
2 BioSystems pathways for NR0B1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 IEA --
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006694 steroid biosynthetic process IDA 9384387
genes like me logo Genes that share ontologies with NR0B1: view

Compounds for NR0B1 Gene

(2) Drugbank Compounds for NR0B1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Dexamethasone
  • Desametasone
50-02-2 target stimulator
Tretinoin
  • All Trans Retinoic Acid
302-79-4 target

(14) Novoseek inferred chemical compound relationships for NR0B1 Gene

Compound -log(P) Hits PubMed IDs
dmrt 68.9 1
acth 59.8 10
steroid 56 18
gnrh 48.4 3
testosterone 48.1 11
genes like me logo Genes that share compounds with NR0B1: view

Transcripts for NR0B1 Gene

mRNA/cDNA for NR0B1 Gene

(49) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NR0B1

Primer Products

Flow Cytometry Products

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 (26.3) and Testis (12.7).

Integrated Proteomics: protein expression 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 expressions with NR0B1: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia NR0B1 35
  • 99.72 (n)
  • 99.36 (a)
NR0B1 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia NR0B1 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR0B1 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr0b1 35
  • 74.33 (n)
  • 65.03 (a)
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

Selected 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 MAF
rs6150 -- 30,309,250(-) CAGTG(C/T)TGGGG reference, synonymous-codon
rs6151 -- 30,304,829(-) TCTCC(C/T)TCCAG intron-variant
rs2269345 -- 30,308,866(-) GCACG(A/G)CCAGG synonymous-codon, reference
rs2301131 -- 30,304,347(-) TCTTT(A/T)AAAAA downstream-variant-500B
rs3788890 -- 30,305,831(-) TTGCA(A/C)TCATC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv505n21 CNV Gain 19592680

Relevant External Links for NR0B1 Gene

HapMap Linkage Disequilibrium report
NR0B1
Human Gene Mutation Database (HGMD)
NR0B1
Locus Specific Mutation Databases (LSDB)
NR0B1

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

Disorders for NR0B1 Gene

(2) OMIM Diseases for NR0B1 Gene (300473)

UniProtKB/Swiss-Prot

NR0B1_HUMAN
  • 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.
  • 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.

(40) Novoseek inferred disease relationships for NR0B1 Gene

Disease -log(P) Hits PubMed IDs
adrenal hypoplasia, congenital 97.4 38
addisons disease 97 132
glycerol kinase deficiency 87.5 5
kallmann syndrome 74.4 5
adrenal disease 72.2 1

Relevant External Links for NR0B1

GeneTests
NR0B1
GeneReviews
NR0B1
Genetic Association Database (GAD)
NR0B1
Human Genome Epidemiology (HuGE) Navigator
NR0B1
genes like me logo Genes that share disorders with NR0B1: view

Publications for NR0B1 Gene

  1. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. (PMID: 7990958) Muscatelli F. … Monaco A.P. (Nature 1994) 3 4 23
  2. Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. (PMID: 9360549) Nakae J. … Fujieda K. (J. Clin. Endocrinol. Metab. 1997) 3 4 23
  3. DAX1 mutations map to putative structural domains in a deduced three- dimensional model. (PMID: 9529340) Zhang Y.-H. … McCabe E.R.B. (Am. J. Hum. Genet. 1998) 3 4 23
  4. Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia. (PMID: 10323730) Abe S. … Fujieda K. (Am. J. Med. Genet. 1999) 3 4 23
  5. Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. (PMID: 10341858) Bassett J.H.D. … Thakker R.V. (Clin. Endocrinol. (Oxf.) 1999) 3 4 23

Products for NR0B1 Gene

  • Addgene plasmids for NR0B1

Sources for NR0B1 Gene

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