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Aliases & Descriptions for NR0B1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AHC 2 , 3 AHCH 1 , 2 AHX 2 DAX-1 2 DAX1 1 , 2 , 3 DSS 2 GTD 2 HHG 2 NROB1 2 OTTHUMP00000023102 2
Descriptions DSS-AHC critical region on the X chromosome protein 1 3 Nuclear receptor DAX-1 3 dosage-sensitive sex reversal 1 nuclear hormone receptor 2 nuclear receptor subfamily 0, group B, member 1 2
Search outside databases for aliases for NR0B1 genePrevious GC identifers: GC0XM028821 GC0XM029006 GC0XM029524 GC0XM029683 GC0XM030082
Summaries for NR0B1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for NR0B1 : This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as adominant-negative regulator of transcription which is mediated by the retinoic acid receptor. Thisprotein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in thisgene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.[provided by RefSeq] UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843 Function : Orphan nuclear receptor. Component of a cascade required for the development of thehypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits thetranscriptional activity of other nuclear receptors through heterodimeric interactions. May alsohave a role in the development of the embryo and in the maintenance of embryonic stem cellpluripotency (By similarity)
Gene Wiki entry for NR0B1 (DAX1)
Genomic Location for NR0B1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the NR0B1 gene Entrez Gene cytogenetic band: Xp21.3-p21.2 Ensembl cytogenetic band: Xp21.2 HGNC cytogenetic band: Xp21.3 NR0B1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM030232:
(about GC identifiers )
Start:
30,232,506 bp from pter
End:
30,237,413 bp from pter
Size:
4,908 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000023.9 NT_011757.15 Proteins for NR0B1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843 (See
protein sequence )Recommended Name: Nuclear receptor subfamily 0 group B member 1 Size : 470 amino acids; 51718 Da
Subunit : Homodimer. Interacts with NR5A1/SF-1, NR5A2, NR0B2 and with COPS2
Subcellular location : Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and nucleus.Homodimers exits in the cytoplasm and in the nucleus
Secondary accessions : Q96F69Alternative splicing : 2 isoforms : P51843-1 P51843-2
REFSEQ proteins: NP_000466.2 ENSEMBL proteins: ENSP00000368246 ENSP00000368253 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for NR0B1: Assays for NR0B1:
Protein
Domains/ Families for NR0B1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P51843 ProtoNet protein and cluster: P51843
1 Blocks protein family : IPB001723 Steroid hormone receptor signature UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843 Domain : Homodimerization involved an interaction between amino and carboxy termini involving LXXLLmotifs and steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1/SF-1 and NROB2 throughits N-terminal LXXLL motifs Similarity : Belongs to the nuclear hormone receptor family. NR0 subfamily
Gene Function for NR0B1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000475 Applied Biosystems Silencer ® siRNAs for NR0B1 Sigma-Aldrich siRNA and siRNA Panels for NR0B1 Sigma-Aldrich shRNA Panels and shRNA for NR0B1 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000475                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000475                                  untagged cDNA clone in CMV expression vector: NM_000475  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000475 UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843 Function : Orphan nuclear receptor. Component of a cascade required for the development of thehypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits thetranscriptional activity of other nuclear receptors through heterodimeric interactions. May alsohave a role in the development of the embryo and in the maintenance of embryonic stem cellpluripotency (By similarity)
Genatlas biochemistry entry for NR0B1 :orphan nuclear (steroid/thyroid/retinoid) receptor,subfamily 0,member 1,dosage-sensitive sexreversal,adrenal hypoplasia congenita (DSS(SRVX)-AHC) critical region on the X chromosome,likelyinvolved in testis and development,essential for the integrity of testicular germinalepithelium,not required for ovarian development,also expressed in the hypothalamus andpituitary,repressing STAR expression and suppressing steroidogenesis by binding to the STARpromoter,antagonizing testis determining factor SRY,also antagonizing synergy between FTZF1 andWT1,regulated by WT1 for gonadal differentiation,transcriptional suppressor of NR5A1
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Nr0b1) :5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11
):
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Pathways & Interactions for NR0B1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for NR0B1 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for NR0B1 5/62 Interacting proteins for NR0B1 (P51843 1 , 2 ENSP00000368253 3 ) via UniProtKB, MINT, and/or STRING (see all 62
)About this table 5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13
):
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Drugs & Compounds for NR0B1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for NR0B1 9 Novoseek chemical compound relationships for NR0B1 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
dmrt
71.95
1
16868052 (1)
acth
57.54
12
15879363 (1), 10931108 (1), 16392182 (1), 15956080 (1) (see all 9 )
steroid
57.05
21
18827407 (2), 8961266 (2), 12536357 (1), 15523052 (1) (see all 16 )
hpaii
33.73
1
15591025 (1)
progesterone
20.95
4
10098511 (1), 10403575 (1), 16901926 (1), 15464421 (1)
zinc
7.95
7
9032275 (1), 8701082 (1), 8921887 (1), 18038713 (1) (see all 6 )
cholesterol
0.00
1
11713202 (1)
leucine
0.00
1
10323730 (1)
cyclic amp
0.00
2
18583320 (1)
About this table
Transcripts for NR0B1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000475 Sigma-Aldrich siRNA and siRNA Panels for NR0B1 Sigma-Aldrich shRNA Panels and shRNA for NR0B1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000475
REFSEQ mRNAs for NR0B1 gene: NM_000475.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000475
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000475                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000475                                  untagged cDNA clone in CMV expression vector: NM_000475  
Additional cDNA sequence: BC011564.1 S74720.1
4 DOTS entries : DT.92422160 DT.75101942 DT.40193850 DT.97824504
24/49 AceView cDNA sequences (see all 49
):AI681514 BE467486 BX281022 BE502995 NM_000475 BQ925068 BQ220108 BC011564 AI693308 BM128433 AV701558 BE218036 BG287729 AA995366 BF477974 AA758389 AI701801 BG490066 AW612655 AI027742 CK819373 BQ100800 BE045725 BI772108
highest scoring ESTs for NR0B1 :S74720 AA555080 AA884468 AA995366 AA995755 AI027742 AI207147 AI695903 AW236930 AW612655
Unigene Cluster for NR0B1: Nuclear receptor subfamily 0, group B, member 1 Hs.268490 [show with all ESTs ] Unigene Representative Sequence: S74720 GeneLoc Exon Structure 2 Ensembl transcripts including schematic representations : ENST00000378963
ENST00000378970
Expression for NR0B1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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NR0B1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for NR0B1 1 / 2 / 3
5 probe-sets matching NR0B1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AGGGAAGAATSOURCE GeneReport for Unigene cluster: Hs.268490 Expression variation in blood from EXPOLDB for NR0B1
Orthologs for NR0B1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for NR0B1 gene from 5/7 species (see all 7
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
NR0B11
--
nuclear receptor subfamily 0, group B, member 1
83.12(n) 74.68(a)
491804 XM_548923.2 XP_548923.2
chimpanzee (Pan troglodytes)
NR0B11
--
nuclear receptor subfamily 0, group B, member 1
99.72(n) 99.36(a)
450140 XM_520991.2 XP_520991.2
cow (Bos taurus)
NR0B11
--
nuclear receptor subfamily 0, group B, member 1
80.99(n) 73.19(a)
281949 XM_597595.3 XP_597595.2
rat (Rattus norvegicus)
Nr0b11
--
nuclear receptor subfamily 0, group B, member 1
74.33(n) 65.03(a)
58850 NM_053317.1 NP_445769.1
mouse (Mus musculus)
Nr0b11 , 5
X (33.00 cM) 5
nuclear receptor subfamily 0, group B, member 11, 5
74.75(n) 1 65.74(a) 1
11614 1 NM_007430.3 1 NP_031456.1 1 AK133411 5 AK141239 5 (see all 11 )
About this table Species with no ortholog for NR0B1 ENSEMBL Gene Tree for NR0B1 Paralogs for NR0B1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for NR0B1 gene NR0B2 2
SNPs/Variants for NR0B1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for NR0B1 (up to first 250kb)
Disorders & Mutations for NR0B1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 300473 UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843
Defects in NR0B1 are the cause of X-linked adrenal hypoplasia congenital (AHC)[MIM:300200]. AHC is a developmental disorder of the adrenal gland that results in profoundhormonal deficiencies and is lethal if untreated. It is characterized by the absence of thepermanent zone of the adrenal cortex and by a structural disorganization of the glands.Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. HHG is acondition resulting from or characterized by abnormally decreased gonadal function, withretardation of growth and sexual development XY individuals with a duplication of part of the short arm of the X chromosome and anintact SRY gene show dosage-sensitive sex reversal (DSS) [MIM:300018]. The single X chromosome inthese individuals does not undergo X-chromosome inactivation; therefore, these individualspresumably 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 DSS region are,therefore, not essential for testis development, but, when present in a double dose, interferewith testis formation
10/40 Novoseek disease relationships for NR0B1 gene (see all 40
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
adrenal hypoplasia, congenital
97.26
42
8636263 (3), 15800903 (2), 9709929 (2), 10323730 (2) (see all 29 )
addisons disease
96.96
179
18339285 (4), 16355812 (3), 18038713 (3), 10341858 (3) (see all 99 )
glycerol kinase deficiency
86.64
5
15300857 (2), 9195207 (1), 15860922 (1)
kallmann syndrome
75.17
6
10714361 (1), 12536356 (1), 10727999 (1), 10527669 (1) (see all 5 )
hypogonadism
71.11
14
10341858 (3), 17803711 (2), 10361383 (1), 12943739 (1) (see all 11 )
adrenal disease
70.39
1
8756567 (1)
metaphyseal dysplasia
68.77
2
17986825 (1)
puberty delayed
62.63
1
10599709 (1)
carcinoma adrenocortical
59.87
9
18824868 (3), 9232190 (2), 15879363 (1), 18819054 (1) (see all 6 )
hypoplasia
58.75
25
15044589 (2), 12610109 (2), 18417736 (2), 16459121 (1) (see all 14 )
About this table GeneTests: NR0B1 X-Linked Adrenal Hypoplasia Congenita Human Gene Mutation Database : NR0B1
Medical News for NR0B1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for NR0B1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/263 PubMed articles for NR0B1 gene (see all 263
): 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) 1, 3, 4 Iyer A.K.... McCabe E.R.B. (2006) NR0B1A: an alternatively spliced form of NR0B1. (PubMed id 15589120) 1, 3, 4 Ho J.... McCabe E.R.B. (2004) Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. (PubMed id 11443184) 1, 3, 4 Achermann J.C.... Jameson J.L. (2001) Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita. (PubMed id 10713076) 1, 3, 4 Altincicek B....Baniahmad A. (2000) DAX1 mutations map to putative structural domains in a deduced three- dimensional model. (PubMed id 9529340) 1, 3, 4 Zhang Y.-H.... McCabe E.R.B. (1998) Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. (PubMed id 12629128) 1, 3, 4 Brown P.... Anderson R.A. (2003) Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. (PubMed id 11748852) 1, 3, 4 Zhang Y.H.... Phelan J.K. (2001) A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. (PubMed id 10675358) 1, 3, 4 Tabarin A.... Bouchard P. (2000) 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) 1, 3, 4 Nakae J.... Fujieda K. (1997) Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. (PubMed id 10848616) 1, 3, 4 Lalli E.... Sassone-Corsi P. (2000)
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Genome Databases showing NR0B1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing NR0B1
(According to HUGE )
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Specialized Databases showing NR0B1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=NR0B1
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-- Services for NR0B1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for NR0B1:
Search Tocris compounds for NR0B1
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009