NR0B1 ELISA Kit for Human(Homo sapiens) | EIAab.comNR0B1 ELISA Kit for Human(Homo sapiens)

Search Protein-oriented Product center.

For antibodies, ELISA/CLIA, proteins... Product center

Tips

Index > Protein center > NR0B1(Gene name) > Human

NR0B1 (Gene name),

Nuclear receptor subfamily 0 group B member 1 (Protein name ), NR0B1_HUMAN from NCBI database.

top

General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Feedback

Gene name:

NR0B1(AHC;DAX1);

Protein name:

Nuclear receptor subfamily 0 group B member 1;

Alternative:

Nuclear receptor DAX-1;DSS-AHC critical region on the X chromosome protein 1;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2.

Function:

Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency.

Subcellular Location:

Nucleus Cytoplasm Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.

Protein Attributes:

Sequence length:

470

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

470:

PIIGTVSMDD | MMLEMLCTKI |

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

Please Sign in.

Related Databases

UniGene:

Hs.268490

Pfam:

PF00104

KEGG:

hsa:190

MIM:

300018

STRING:

9606.ENSP00000368253

SMR:

P51843

String:

P51843

Uniprot:

P51843

FOR

ELISA Kit for Human Nuclear receptor subfamily 0 group B member 1

CLIA Kit for Human Nuclear receptor subfamily 0 group B member 1

Polyclonal Antibody for Human Nuclear receptor subfamily 0 group B member 1

Monoclonal Antibody for Human Nuclear receptor subfamily 0 group B member 1

Protein for Human Nuclear receptor subfamily 0 group B member 1

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita."
Altincicek B. , Tenbaum S.P. , Dressel U. , Thormeyer D. , Renkawitz R. , Baniahmad A.
J. Biol. Chem.275:7662-7667(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH COPS2
2.

"LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1."
Suzuki T. , Kasahara M. , Yoshioka H. , Morohashi K. , Umesono K.
Mol. Cell. Biol.23:238-249(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH NR5A1 AND NR5A2
3.

"NR0B1A: an alternatively spliced form of NR0B1."
Ho J. , Zhang Y.H. , Huang B.L. , McCabe E.R.B.
Mol. Genet. Metab.83:330-336(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING (ISOFORM 2)
4.

"DAX1 origin, function, and novel role."
Niakan K.K. , McCabe E.R.B.
Mol. Genet. Metab.86:70-83(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW
5.

"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."
Iyer A.K. , Zhang Y.-H. , McCabe E.R.B.
Mol. Endocrinol.20:2326-2342(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: HOMODIMERIZATION;HETERODIMERIZATION WITH NR0B2;SUBCELLULAR LOCATION;MUTAGENESIS OF 16-MET-LEU-17; 83-MET-LEU-84; 149-LEU-LEU-150 AND 461-MET-MET-462
6.

"Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism."
Muscatelli F. , Strom T.M. , Walker A.P. , Zanaria E. , Recan D. , Meindl A. , Bardoni B. , Guioli S. , Zehetner G. , Rabl W. , Schwarz H.P. , Kaplan J.-C. , Camerino G. , Meitinger T. , Monaco A.P.
Nature372:672-676(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS XL-AHC PRO-267 AND VAL-269 DEL
7.

"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."
Schwartz M. , Blichfeldt S. , Mueller J.
Hum. Genet.99:83-87(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC ILE-440
8.

"Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita."
Nakae J. , Abe S. , Tajima T. , Shinohara N. , Murashita M. , Igarashi Y. , Kusuda S. , Suzuki J. , Fujieda K.
J. Clin. Endocrinol. Metab.82:3835-3841(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS XL-AHC CYS-291 AND ASN-382
9.

"Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita."
Takahashi T. , Shoji Y. , Shoji Y. , Haraguchi N. , Takahashi I. , Takada G.
J. Pediatr.130:485-488(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC VAL-300
10.

"A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita."
Lalli E. , Bardoni B. , Zazopoulos E. , Wurtz J.-M. , Strom T.M. , Moras D. , Sassone-Corsi P.
Mol. Endocrinol.11:1950-1960(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS XL-AHC PRO-267 AND VAL-269 DEL
11.

"DAX1 mutations map to putative structural domains in a deduced three-dimensional model."
Zhang Y.-H. , Guo W. , Wagner R.L. , Huang B.-L. , McCabe L.L. , Vilain E. , Burris T.P. , Anyane-Yeboa K. , Burghes A.H.M. , Chitayat D. , Chudley A.E. , Genel M. , Gertner J.M. , Klingensmith G.J. , Levine S.N. , Nakamoto J. , New M.I. , Pagon R.A. , more...
Am. J. Hum. Genet.62:855-864(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS XL-AHC LYS-377; GLY-385 AND GLY-425
12.

"Dax1 antagonizes Sry action in mammalian sex determination."
Swain A. , Narvaez V. , Burgoyne P. , Camerino G. , Lovell-Badge R.
Nature391:761-767(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN SRXY2
13.

"Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia."
Abe S. , Nakae J. , Yasoshima K. , Tajima T. , Shinohara N. , Murashita M. , Satoh K. , Koike A. , Takahashi Y. , Fujieda K.
Am. J. Med. Genet.84:87-89(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC ARG-466
14.

"Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism."
Bassett J.H.D. , O'Halloran D.J. , Williams G.R. , Beardwell C.G. , Shalet S.M. , Thakker R.V.
Clin. Endocrinol. (Oxf.)50:69-75(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC PRO-278
15.

"A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism."
Tabarin A. , Achermann J.C. , Recan D. , Bex V. , Bertagna X. , Christin-Maitre S. , Ito M. , Jameson J.L. , Bouchard P.
J. Clin. Invest.105:321-328(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC SER-439
16.

"Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1."
Achermann J.C. , Silverman B.L. , Habiby R.L. , Jameson J.L.
J. Pediatr.137:878-881(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC HIS-381
17.

"An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita."
Zanaria E. , Muscatelli F. , Bardoni B. , Strom T.M. , Guioli S. , Guo W. , Lalli E. , Moser C. , Walker A.P. , McCabe E.R.B. , Meitinger T. , Monaco A.P. , Sassone-Corsi P. , Camerino G.
Nature372:635-641(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
18.

"Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism."
Guo W. , Burris T.P. , Zhang Y.H. , Huang B.L. , Mason J. , Copeland K.C. , Kupfer S.R. , Pagon R.A. , McCabe E.R.B.
J. Clin. Endocrinol. Metab.81:2481-2486(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
19.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Lung.
20.

"Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA."
Lalli E. , Ohe K. , Hindelang C. , Sassone-Corsi P.
Mol. Cell. Biol.20:4910-4921(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS XL-AHC PRO-267; VAL-269 DEL AND ILE-440
21.

"Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita."
Zhang Y.H. , Huang B.L. , Anyane-Yeboa K. , Carvalho J.A. , Clemons R.D. , Cole T. , De Figueiredo B.C. , Lubinsky M. , Metzger D.L. , Quadrelli R. , Repaske D.R. , Reyno S. , Seaver L.H. , Vaglio A. , van Vliet G. , McCabe L.L. , McCabe E.R.B. , Phelan J.K.
Hum. Mutat.18:547-547(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS XL-AHC PRO-295 AND THR-425
22.

"Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression."
Achermann J.C. , Ito M. , Silverman B.L. , Habiby R.L. , Pang S. , Rosler A. , Jameson J.L.
J. Clin. Endocrinol. Metab.86:3171-3175(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS XL-AHC PRO-300 AND LYS-377;CHARACTERIZATION OF VARIANTS
23.

"Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita."
Mantovani G. , Ozisik G. , Achermann J.C. , Romoli R. , Borretta G. , Persani L. , Spada A. , Jameson J.L. , Beck-Peccoz P.
J. Clin. Endocrinol. Metab.87:44-48(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC ASP-380
24.

"Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation."
Brown P. , Scobie G.A. , Townsend J. , Bayne R.A.L. , Seckl J.R. , Saunders P.T.K. , Anderson R.A.
J. Clin. Endocrinol. Metab.88:1341-1349(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC PRO-297;CHARACTERIZATION OF VARIANT XL-AHC PRO-297
25.

"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."
Franzese A. , Brunetti-Pierri N. , Spagnuolo M.I. , Spadaro R. , Giugliano M. , Mukai T. , Valerio G.
Am. J. Med. Genet. A135:72-74(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT XL-AHC GLY-287
26.

Franzese A. , Brunetti-Pierri N. , Spagnuolo M.I. , Spadaro R. , Giugliano M. , Mukai T. , Valerio G.
Am. J. Med. Genet. A137:115-115(2005)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM

Product Feedback Wall

* Email:
*Comments: