AC T02776
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ID T02776
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DT 08.06.1999 (created); mpr.
DT 15.11.2012 (updated); prb.
CO Copyright (C), QIAGEN.
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FA DAX1
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SY AHCH; DAX-1; NR0B1.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G002819 NR0B1; HGNC: NR0B1.
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CL C0002; CC (rec); 2.1.7.0.1.
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SF atypical nuclear receptor without DNA-binding domain [6];
SF the DAX1-gene is deleted or mutated in most cases of X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG) [3] [4];
SF binds to RNA and RNA bound polyribosomes [8];
SF associates with nuclear RNP and pore structures and is exported from and reimported to the nucleus [8];
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CP (embryo): testis (day 15.5 and 16) [5].
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FF acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor [2];
FF absence responsible for adrenal hypoplasia congenita (inherited disorder) characterized by adrenal insufficiency and hypogonadotropic hypogonadism [7];
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IN T00040 AR; human, Homo sapiens.
IN T02765 ERR1; human, Homo sapiens.
IN T06121 ERR3; human, Homo sapiens.
IN T05351 PPARgamma; human, Homo sapiens.
IN T01661 PR A; human, Homo sapiens.
IN T00696 PR B; human, Homo sapiens.
IN T09566 RORalpha; human, Homo sapiens.
IN T10138 SF-1; Mammalia.
IN T04597 SKIP; human, Homo sapiens.
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MX M01248 V$DAX1_01.
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BS R31239.
BS R31242.
BS R25726.
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DR TRANSPATH: MO000026748.
DR UniProtKB: P51843;
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RN [1]; RE0013625.
RX PUBMED: 10219237.
RA Nuclear Receptors Nomenclature Committee.
RT A unified nomenclature system for the nuclear receptor superfamily
RL Cell 97:161-163 (1999).
RN [2]; RE0013664.
RX PUBMED: 7990953.
RA Zanaria E., Muscatelli F., Bardoni B., Strom T. M., Guioli S., Guo W., Lalli E., Moser C., Walker A. P., McCabe E. R., et al.
RT An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
RL Nature 372:635-641 (1994).
RN [3]; RE0013665.
RX PUBMED: 7990958.
RA Muscatelli F., Strom T. M., Walker A. P., Zanaria E., Recan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W., et al.
RT Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
RL Nature 372:672-676 (1994).
RN [4]; RE0013666.
RX PUBMED: 9003500.
RA Schwartz M., Blichfeldt S., Muller J.
RT 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
RL Hum. Genet. 99:83-87 (1997).
RN [5]; RE0016767.
RX PUBMED: 8754790.
RA Majdic G., Saunders P. T.
RT Differential patterns of expression of DAX-1 and steroidogenic factor-1 (SF-1) in the fetal rat testis
RL Endocrinology 137:3586-3589 (1996).
RN [6]; RE0016769.
RX PUBMED: 9566914.
RA Crawford P. A., Dorn C., Sadovsky Y., Milbrandt J.
RT Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1
RL Mol. Cell. Biol. 18:2949-2956 (1998).
RN [7]; RE0016772.
RX PUBMED: 11301600.
RA Goodfellow P. N., Camerino G.
RT DAX-1, an "antitestis" gene
RL EXS 91:57-69 (2001).
RN [8]; RE0016774.
RX PUBMED: 10848616.
RA Lalli E., Ohe K., Hindelang C., Sassone-Corsi P.
RT Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA
RL Mol. Cell. Biol. 20:4910-4921 (2000).
RN [9]; RE0030408.
RX PUBMED: 12771131.
RA Agoulnik I. U., Krause W. C., Bingman W. E. 3rd, Rahman H. T., Amrikachi M., Ayala G. E., Weigel N. L.
RT Repressors of androgen and progesterone receptor action.
RL J. Biol. Chem. 278:31136-48 (2003).
RN [10]; RE0054989.
RX PUBMED: 15604093.
RA Albers M., Kranz H., Kober I., Kaiser C., Klink M., Suckow J., Kern R., Koegl M.
RT Automated yeast two-hybrid screening for nuclear receptor-interacting proteins.
RL Mol. Cell. Proteomics 4:205-213 (2005).
RN [11]; RE0066713.
RX PUBMED: 20421209.
RA Lanzino M., Sisci D., Morelli C., Garofalo C., Catalano S., Casaburi I., Capparelli C., Giordano C., Giordano F., Maggiolini M., Ando S.
RT Inhibition of cyclin D1 expression by androgen receptor in breast cancer cells--identification of a novel androgen response element.
RL Nucleic Acids Res. 38:5351-5365 (2010).
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