NR0B1 | ENSG00000169297 | NCBI 190

Details for: NR0B1

Gene ID: 190

Symbol: NR0B1

Ensembl ID: ENSG00000169297

Description: nuclear receptor subfamily 0 group B member 1

Associated with

Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Nuclear receptor transcription pathway
(R-HSA-383280)
Rna polymerase ii transcription
(R-HSA-73857)
Adrenal gland development
(GO:0030325)
Centriolar satellite
(GO:0034451)
Chromatin
(GO:0000785)
Cytoplasm
(GO:0005737)
Dna hairpin binding
(GO:0032448)
Endodermal cell differentiation
(GO:0035987)
Gonad development
(GO:0008406)
Hypothalamus development
(GO:0021854)
Intracellular membrane-bounded organelle
(GO:0043231)
Leydig cell differentiation
(GO:0033327)
Male gonad development
(GO:0008584)
Male sex determination
(GO:0030238)
Membrane
(GO:0016020)
Negative regulation of dna-binding transcription factor activity
(GO:0043433)
Negative regulation of dna-templated transcription
(GO:0045892)
Negative regulation of intracellular steroid hormone receptor signaling pathway
(GO:0033144)
Negative regulation of steroid biosynthetic process
(GO:0010894)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Nuclear receptor binding
(GO:0016922)
Nuclear speck
(GO:0016607)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Pituitary gland development
(GO:0021983)
Protein binding
(GO:0005515)
Protein domain specific binding
(GO:0019904)
Protein homodimerization activity
(GO:0042803)
Protein localization
(GO:0008104)
Response to immobilization stress
(GO:0035902)
Ribosome
(GO:0005840)
Rna binding
(GO:0003723)
Rna polymerase ii-specific dna-binding transcription factor binding
(GO:0061629)
Sertoli cell differentiation
(GO:0060008)
Spermatogenesis
(GO:0007283)
Transcription corepressor activity
(GO:0003714)
Transcription factor binding
(GO:0008134)

Other Information

Proteins

Nuclear receptor subfamily 0 group B member 1

Genular Protein ID: 343468495

Symbol: NR0B1_HUMAN

Name: Nuclear receptor subfamily 0 group B member 1

UniProtKB Accession Codes:

P51843 Q96F69

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

The gene details are incomplete or unavailable at the moment.

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.

Details for: NR0B1

Associated with

Other Information

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. PubMed ID: 7990953

Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. PubMed ID: 8675564

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita. PubMed ID: 10713076

LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1. PubMed ID: 12482977

NR0B1A: an alternatively spliced form of NR0B1. PubMed ID: 15589120

DAX1 origin, function, and novel role. PubMed ID: 16146703

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

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. PubMed ID: 7990958

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

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

Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. PubMed ID: 9063431

A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. PubMed ID: 9415399

DAX1 mutations map to putative structural domains in a deduced three-dimensional model. PubMed ID: 9529340

Dax1 antagonizes Sry action in mammalian sex determination. PubMed ID: 9486644

Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia. PubMed ID: 10323730

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. PubMed ID: 10341858

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. PubMed ID: 10675358

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. PubMed ID: 11113848

Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. PubMed ID: 10848616

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. PubMed ID: 11748852

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. PubMed ID: 11443184

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. PubMed ID: 11788621

Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. PubMed ID: 12629128

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