Property Summary

NCBI Gene PubMed Count 134
Grant Count 88
R01 Count 51
Funding $10,452,609.21
PubMed Score 522.78
PubTator Score 361.68

Knowledge Summary

Patent (33,772)

Expression

  Differential Expression (6)

Disease log2 FC p
lung cancer 2.500 0.000
pilocytic astrocytoma 2.100 0.000
subependymal giant cell astrocytoma 2.397 0.034
lung carcinoma 1.400 0.000
ovarian cancer -2.900 0.000
pituitary cancer 2.000 0.003

Synonym

Accession P51843 Q96F69
Symbols AHC
AHX
DSS
GTD
HHG
AHCH
DAX1
DAX-1
NROB1
SRXY2

Gene

PDB

4RWV  

  TechDev Info (1)

Jun Qin Signaling network evaluation of transcript factor crosstalk via catTRE/MS

MLP Assay (14)

AID Type Active / Inconclusive / Inactive Description
2277 screening 14 / 0 / 0 Center Based Initiative to identify novel modulators of the Retinoic acid receptor-related Orphan Receptors (ROR): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors.
504766 screening 3418 / 0 / 340282 Luminescence-based primary cell-based high throughput screening assay to identify inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1)
504790 summary 0 / 0 / 0 Summary of the probe development efforts to identify inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1)
504934 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify inverse agonists of the liver receptor homolog-1 (LRH-1; NR5A2): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors
588797 confirmatory 1 / 0 / 241 Luminescence-based cell-based high throughput dose response assay for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1)
588821 screening 6 / 0 / 23 Late stage counterscreen for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1): luminescence-based cell-based dose response assay to identify compounds that interfere with the UAS/Gal4 system and/or luciferase reporter.
588822 screening 0 / 0 / 29 Late stage luminescence-based cell-based dose response assay for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1).
624301 other 0 / 0 / 2 Late stage assay provider counterscreen for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1): absorbance-based cell-based dose response assay for inhibitors of DAX-1 (CAT activity)
624302 other 2 / 0 / 27 Late stage assay provider luminescence-based cell-based dose response assay for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1)
624307 other 0 / 0 / 29 Late stage assay provider counterscreen for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1): luminescence-based cell-based dose response assay for inhibitors of Star (Steroidogenic acute regulatory protein)
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Gene RIF (88)

PMID Text
26207377 This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis.
26168243 DAX-1 is less specific than Ap2beta, however it is a sensitive marker for translocation positive ARMS and can be helpful in their diagnosis if used in combination with Ap2beta
25985323 DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis.
25968435 DAX1 mutations were associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
25171651 results suggest a previously unknown DAX-1/beta-Catenin molecular network controlling HCC development
25079468 Case Report: novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
25003377 Deletion in exon 2 of NR0B1 is associated with late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism.
24751136 DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Review.
24668626 Overall, these results indicated that the main mechanism of sex reversal are not associated with mutations in the coding regions of SOX9 and DAX1 or copy number variations of SOX9, which is consistent with results of previous studies.
24531914 Data suggest that levels of DAX1/NR0B1 in subcapsular zone of adrenal glands (zona glomerulosa) are not prominently different in subjects with primary aldosteronism, subjects with aldosterone-producing adrenocortical adenomas, or normal subjects.
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AA Sequence

MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFCG      1 - 70
KDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHP     71 - 140
RQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQG    141 - 210
STLYCVPTSTNQAQAAPEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPL    211 - 280
DQQLVLVRNCWASLLMLELAQDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEAR    281 - 350
KVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ    351 - 420
GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI                        421 - 470
//

Text Mined References (133)

PMID Year Title
26207377 2015 A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
26168243 2015 DAX-1 Expression in Pediatric Rhabdomyosarcomas: Another Immunohistochemical Marker Useful in the Diagnosis of Translocation Positive Alveolar Rhabdomyosarcoma.
25985323 2015 DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
25968435 2015 Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
25416956 2014 A proteome-scale map of the human interactome network.
25171651 2014 DAX-1 inhibits hepatocellular carcinoma proliferation by inhibiting ?-catenin transcriptional activity.
25079468 A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
25003377 2014 Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.
24751136 2014 Are human male patients with DAX1/NR0B1 mutations infertile?
24668626 2014 Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.
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