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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.99
    Marker Score: 2219
  • Cell Name: monocyte (CL0000576)
    Fold Change: 1.61
    Marker Score: 2097
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 876
  • Cell Name: T cell (CL0000084)
    Fold Change: 1.3
    Marker Score: 2233
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.28
    Marker Score: 1216
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.27
    Marker Score: 2381
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 802
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71832
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48057
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2426
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5352
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.92
    Marker Score: 1199
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.92
    Marker Score: 535
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.82
    Marker Score: 806
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.79
    Marker Score: 344
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.77
    Marker Score: 13678
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.72
    Marker Score: 1162
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.72
    Marker Score: 162
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 181
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.7
    Marker Score: 466
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.68
    Marker Score: 1282
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.65
    Marker Score: 690
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.64
    Marker Score: 391
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.64
    Marker Score: 511
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 235
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.5
    Marker Score: 1018
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 480
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.48
    Marker Score: 515
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 281
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.46
    Marker Score: 186
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.44
    Marker Score: 4378
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.42
    Marker Score: 6617
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.38
    Marker Score: 228
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.38
    Marker Score: 260
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.38
    Marker Score: 372
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 376
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.33
    Marker Score: 1958
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.33
    Marker Score: 1979
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.29
    Marker Score: 362.5
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.27
    Marker Score: 393
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.27
    Marker Score: 1742
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.22
    Marker Score: 105
  • Cell Name: lung neuroendocrine cell (CL1000223)
    Fold Change: 0.21
    Marker Score: 60
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.21
    Marker Score: 110
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.2
    Marker Score: 70
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.19
    Marker Score: 204
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.18
    Marker Score: 159
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.18
    Marker Score: 78
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.18
    Marker Score: 2365
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.16
    Marker Score: 225
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.16
    Marker Score: 86
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.16
    Marker Score: 90
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.15
    Marker Score: 313.5
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.13
    Marker Score: 33
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.13
    Marker Score: 46
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.13
    Marker Score: 220
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.12
    Marker Score: 127
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.12
    Marker Score: 211
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.12
    Marker Score: 63
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.11
    Marker Score: 64.5
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.1
    Marker Score: 71
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.1
    Marker Score: 99
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.1
    Marker Score: 37
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.09
    Marker Score: 26
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.09
    Marker Score: 35
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.09
    Marker Score: 237
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.08
    Marker Score: 33
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.08
    Marker Score: 90
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.08
    Marker Score: 106
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.07
    Marker Score: 38
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.07
    Marker Score: 24
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.07
    Marker Score: 34
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.07
    Marker Score: 2276
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.07
    Marker Score: 67
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.07
    Marker Score: 15
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.06
    Marker Score: 18
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.06
    Marker Score: 18
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.05
    Marker Score: 36
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.05
    Marker Score: 18
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.05
    Marker Score: 55
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.05
    Marker Score: 129
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: brush cell of trachebronchial tree (CL0002075)
    Fold Change: 0.05
    Marker Score: 16
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.05
    Marker Score: 74
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: 0.05
    Marker Score: 16
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.05
    Marker Score: 16
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.05
    Marker Score: 28

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Other Information

**Key characteristics**: * NR0B1 is a transcription factor that is expressed in high levels in germ cells and early-differentiated tissues. * It is a key regulator of cell proliferation, differentiation, and survival. * NR0B1 is involved in the development of the gonads and the regulation of male and female reproductive development. * It is also involved in the regulation of the immune system and inflammation. **Pathways and functions**: * NR0B1 is a key regulator of the transcription of many genes involved in cell proliferation, differentiation, and survival. * It is a key regulator of the development of the gonads and the regulation of male and female reproductive development. * It is also involved in the regulation of the immune system and inflammation. **Clinical significance**: * NR0B1 mutations are associated with various diseases, including cancer, autoimmune disorders, and developmental disorders. * NR0B1 inhibitors are being investigated as potential treatments for these diseases. **Additional information**: * NR0B1 is a member of the NR0B family of nuclear receptors, which are a large family of transcription factors that are involved in a variety of cellular processes. * NR0B1 is a well-characterized protein that has been extensively studied in both humans and mice. * NR0B1 is a key target for cancer immunotherapy.

Genular Protein ID: 343468495

Symbol: NR0B1_HUMAN

Name: Nuclear receptor subfamily 0 group B member 1

UniProtKB Accession Codes:

P51843 Q96F69

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 3 Ensembl 1 ExpressionAtlas 1 GO 34 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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. For the full schema, download it here.