Details for: NR0B1

Gene ID: 190

Symbol: NR0B1

Ensembl ID: ENSG00000169297

Description: nuclear receptor subfamily 0 group B member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 9.6491
    Cell Significance Index: -3.9200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.7600
    Cell Significance Index: 127.5500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.7352
    Cell Significance Index: 42.0300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.4642
    Cell Significance Index: 23.2300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.4314
    Cell Significance Index: 35.7000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 0.7195
    Cell Significance Index: -2.2100
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.4146
    Cell Significance Index: 1.9200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.3447
    Cell Significance Index: 5.6800
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.3337
    Cell Significance Index: 3.7300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.2534
    Cell Significance Index: 3.2500
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.1435
    Cell Significance Index: 1.2200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0658
    Cell Significance Index: 12.5300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0542
    Cell Significance Index: 0.7400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0368
    Cell Significance Index: 7.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0017
    Cell Significance Index: 1.2900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0003
    Cell Significance Index: 0.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0007
    Cell Significance Index: -0.1500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0009
    Cell Significance Index: -0.5000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0030
    Cell Significance Index: -1.6600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0034
    Cell Significance Index: -0.3900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0073
    Cell Significance Index: -0.9000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0094
    Cell Significance Index: -0.4700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0102
    Cell Significance Index: -1.8300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0103
    Cell Significance Index: -0.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0107
    Cell Significance Index: -3.8400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0119
    Cell Significance Index: -3.4200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0136
    Cell Significance Index: -2.3300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0188
    Cell Significance Index: -0.7700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0196
    Cell Significance Index: -2.6900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0231
    Cell Significance Index: -4.6300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0297
    Cell Significance Index: -3.4600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0340
    Cell Significance Index: -3.4700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0391
    Cell Significance Index: -4.4800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0407
    Cell Significance Index: -0.6300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0491
    Cell Significance Index: -6.3400
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0554
    Cell Significance Index: -0.6600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0662
    Cell Significance Index: -4.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0758
    Cell Significance Index: -4.6600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0779
    Cell Significance Index: -2.0800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0865
    Cell Significance Index: -6.4500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0954
    Cell Significance Index: -5.0100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0982
    Cell Significance Index: -5.5100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1003
    Cell Significance Index: -5.2100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1046
    Cell Significance Index: -2.1900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1114
    Cell Significance Index: -3.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1141
    Cell Significance Index: -3.2700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1154
    Cell Significance Index: -4.0100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1179
    Cell Significance Index: -3.1600
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: -0.1183
    Cell Significance Index: -0.5900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1205
    Cell Significance Index: -5.3300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1236
    Cell Significance Index: -4.3300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1243
    Cell Significance Index: -3.9800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1272
    Cell Significance Index: -5.9800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1350
    Cell Significance Index: -2.2600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1415
    Cell Significance Index: -5.3600
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.1418
    Cell Significance Index: -1.5300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1425
    Cell Significance Index: -4.6700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1429
    Cell Significance Index: -4.5500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1447
    Cell Significance Index: -5.3100
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.1531
    Cell Significance Index: -1.9400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1546
    Cell Significance Index: -4.8900
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.1556
    Cell Significance Index: -1.7900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1573
    Cell Significance Index: -4.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1598
    Cell Significance Index: -7.4500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1601
    Cell Significance Index: -4.4700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1648
    Cell Significance Index: -4.2000
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1668
    Cell Significance Index: -2.3400
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.1694
    Cell Significance Index: -2.0000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1836
    Cell Significance Index: -4.5800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1882
    Cell Significance Index: -4.1200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1895
    Cell Significance Index: -2.0600
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: -0.1948
    Cell Significance Index: -2.2100
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.1965
    Cell Significance Index: -2.1000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2004
    Cell Significance Index: -4.3300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.2006
    Cell Significance Index: -2.8500
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2061
    Cell Significance Index: -3.5000
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.2076
    Cell Significance Index: -2.3500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2114
    Cell Significance Index: -5.0700
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.2122
    Cell Significance Index: -2.0400
  • Cell Name: immature B cell (CL0000816)
    Fold Change: -0.2145
    Cell Significance Index: -2.0300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2148
    Cell Significance Index: -1.9800
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2158
    Cell Significance Index: -4.2200
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: -0.2210
    Cell Significance Index: -2.0800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2247
    Cell Significance Index: -4.6900
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.2252
    Cell Significance Index: -3.2700
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.2259
    Cell Significance Index: -2.2200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2261
    Cell Significance Index: -4.5400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2262
    Cell Significance Index: -4.8000
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: -0.2263
    Cell Significance Index: -2.7400
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: -0.2267
    Cell Significance Index: -2.0300
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.2284
    Cell Significance Index: -3.3400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2320
    Cell Significance Index: -5.6600
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.2323
    Cell Significance Index: -3.1600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.2347
    Cell Significance Index: -4.6800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.2352
    Cell Significance Index: -4.6300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2377
    Cell Significance Index: -4.7000
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.2384
    Cell Significance Index: -2.8100
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.2402
    Cell Significance Index: -2.3300
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: -0.2456
    Cell Significance Index: -2.7200
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: -0.2463
    Cell Significance Index: -1.8800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Ligand-activated transcription factor:** NR0B1 is activated by specific ligands, which bind to the ligand-binding domain, leading to a conformational change that enables DNA binding and transcriptional activation. 2. **Wide expression pattern:** NR0B1 is expressed in various cell types, including immune cells (e.g., T cells, B cells, monocytes, granulocytes), epithelial cells (e.g., goblet cells, supporting cells), and neuronal cells (e.g., GABAergic interneurons). 3. **Transcriptional regulation:** NR0B1 modulates gene expression by binding to specific DNA sequences, thereby influencing the transcription of target genes involved in immune responses, development, and homeostasis. 4. **Negative regulation:** NR0B1 also exhibits negative regulatory functions, suppressing the activity of other transcription factors and signaling pathways to maintain cellular homeostasis. **Pathways and Functions:** 1. **Immune regulation:** NR0B1 plays a crucial role in the regulation of immune responses, including the activation of T cells, the differentiation of B cells, and the production of cytokines. 2. **Developmental processes:** NR0B1 is involved in the development of various organs and tissues, including the adrenal gland, gonads, and pituitary gland. 3. **Cellular differentiation:** NR0B1 modulates the differentiation of immune cells, such as T cells, B cells, and granulocytes, into functional subsets. 4. **Stress response:** NR0B1 is activated in response to immobilization stress, influencing the expression of genes involved in stress response and adaptation. **Clinical Significance:** Dysregulation of NR0B1 has been implicated in various diseases, including: 1. **Autoimmune disorders:** NR0B1 has been shown to play a role in the pathogenesis of autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. 2. **Cancer:** NR0B1 has been implicated in the development and progression of certain types of cancer, including prostate cancer and breast cancer. 3. **Neurological disorders:** NR0B1 has been linked to neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, NR0B1 is a critical nuclear receptor that regulates immune responses, development, and homeostasis. Its dysregulation has been implicated in various diseases, highlighting the need for further research into the molecular mechanisms underlying its function and the development of therapeutic strategies to target NR0B1 in disease prevention and treatment.

Genular Protein ID: 343468495

Symbol: NR0B1_HUMAN

Name: Nuclear receptor subfamily 0 group B member 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7990953

Title: An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.

PubMed ID: 7990953

DOI: 10.1038/372635a0

PubMed ID: 8675564

Title: Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

PubMed ID: 8675564

DOI: 10.1210/jcem.81.7.8675564

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10713076

Title: Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita.

PubMed ID: 10713076

DOI: 10.1074/jbc.275.11.7662

PubMed ID: 12482977

Title: LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1.

PubMed ID: 12482977

DOI: 10.1128/mcb.23.1.238-249.2003

PubMed ID: 15589120

Title: NR0B1A: an alternatively spliced form of NR0B1.

PubMed ID: 15589120

DOI: 10.1016/j.ymgme.2004.10.002

PubMed ID: 16146703

Title: DAX1 origin, function, and novel role.

PubMed ID: 16146703

DOI: 10.1016/j.ymgme.2005.07.019

PubMed ID: 16709599

Title: 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.

PubMed ID: 16709599

DOI: 10.1210/me.2005-0383

PubMed ID: 7990958

Title: Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

PubMed ID: 7990958

DOI: 10.1038/372672a0

PubMed ID: 9003500

Title: X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.

PubMed ID: 9003500

DOI: 10.1007/s004390050316

PubMed ID: 9360549

Title: Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

PubMed ID: 9360549

DOI: 10.1210/jcem.82.11.4342

PubMed ID: 9063431

Title: Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.

PubMed ID: 9063431

DOI: 10.1016/s0022-3476(97)70217-8

PubMed ID: 9415399

Title: A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita.

PubMed ID: 9415399

DOI: 10.1210/mend.11.13.0038

PubMed ID: 9529340

Title: DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

PubMed ID: 9529340

DOI: 10.1086/301782

PubMed ID: 9486644

Title: Dax1 antagonizes Sry action in mammalian sex determination.

PubMed ID: 9486644

DOI: 10.1038/35799

PubMed ID: 10323730

Title: Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.

PubMed ID: 10323730

DOI: 10.1002/(sici)1096-8628(19990521)84:2<87::aid-ajmg1>3.3.co;2-z

PubMed ID: 10341858

Title: Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

PubMed ID: 10341858

DOI: 10.1046/j.1365-2265.1999.00601.x

PubMed ID: 10675358

Title: A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.

PubMed ID: 10675358

DOI: 10.1172/jci7212

PubMed ID: 11113848

Title: Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

PubMed ID: 11113848

DOI: 10.1067/mpd.2000.108567

PubMed ID: 10848616

Title: Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.

PubMed ID: 10848616

DOI: 10.1128/mcb.20.13.4910-4921.2000

PubMed ID: 11748852

Title: Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

PubMed ID: 11748852

DOI: 10.1002/humu.1236

PubMed ID: 11443184

Title: Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.

PubMed ID: 11443184

DOI: 10.1210/jcem.86.7.7660

PubMed ID: 11788621

Title: Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.

PubMed ID: 11788621

DOI: 10.1210/jcem.87.1.8163

PubMed ID: 12629128

Title: Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.

PubMed ID: 12629128

DOI: 10.1210/jc.2002-021560

PubMed ID: 15800903

Title: Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.

PubMed ID: 15800903

DOI: 10.1002/ajmg.a.30670

Sequence Information:

  • Length: 470
  • Mass: 51718
  • Checksum: 214E237097DF9786
  • Sequence:
  • MAGENHQWQG SILYNMLMSA KQTRAAPEAP ETRLVDQCWG CSCGDEPGVG REGLLGGRNV 
    ALLYRCCFCG KDHPRQGSIL YSMLTSAKQT YAAPKAPEAT LGPCWGCSCG SDPGVGRAGL 
    PGGRPVALLY RCCFCGEDHP RQGSILYSLL TSSKQTHVAP AAPEARPGGA WWDRSYFAQR 
    PGGKEALPGG RATALLYRCC FCGEDHPQQG STLYCVPTST NQAQAAPEER PRAPWWDTSS 
    GALRPVALKS PQVVCEAASA GLLKTLRFVK YLPCFQVLPL DQQLVLVRNC WASLLMLELA 
    QDRLQFETVE VSEPSMLQKI LTTRRRETGG NEPLPVPTLQ HHLAPPAEAR KVPSASQVQA 
    IKCFLSKCWS LNISTKEYAY LKGTVLFNPD VPGLQCVKYI QGLQWGTQQI LSEHTRMTHQ 
    GPHDRFIELN STLFLLRFIN ANVIAELFFR PIIGTVSMDD MMLEMLCTKI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.