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Nuclear receptor subfamily 0 group B member 1 (DSS-AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX-1)

 NR0B1_HUMAN             Reviewed;         470 AA.
P51843; Q96F69;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
10-MAY-2002, sequence version 2.
22-NOV-2017, entry version 179.
RecName: Full=Nuclear receptor subfamily 0 group B member 1;
AltName: Full=DSS-AHC critical region on the X chromosome protein 1;
AltName: Full=Nuclear receptor DAX-1;
Name=NR0B1; Synonyms=AHC, DAX1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=7990953; DOI=10.1038/372635a0;
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.;
"An unusual member of the nuclear hormone receptor superfamily
responsible for X-linked adrenal hypoplasia congenita.";
Nature 372:635-641(1994).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=8675564; DOI=10.1210/jcem.81.7.8675564;
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.;
"Genomic sequence of the DAX1 gene: an orphan nuclear receptor
responsible for X-linked adrenal hypoplasia congenita and
hypogonadotropic hypogonadism.";
J. Clin. Endocrinol. Metab. 81:2481-2486(1996).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
INTERACTION WITH COPS2.
PubMed=10713076; DOI=10.1074/jbc.275.11.7662;
Altincicek B., Tenbaum S.P., Dressel U., Thormeyer D., Renkawitz R.,
Baniahmad A.;
"Interaction of the corepressor Alien with DAX-1 is abrogated by
mutations of DAX-1 involved in adrenal hypoplasia congenita.";
J. Biol. Chem. 275:7662-7667(2000).
[5]
INTERACTION WITH NR5A1 AND NR5A2.
PubMed=12482977; DOI=10.1128/MCB.23.1.238-249.2003;
Suzuki T., Kasahara M., Yoshioka H., Morohashi K., Umesono K.;
"LXXLL-related motifs in Dax-1 have target specificity for the orphan
nuclear receptors Ad4BP/SF-1 and LRH-1.";
Mol. Cell. Biol. 23:238-249(2003).
[6]
ALTERNATIVE SPLICING (ISOFORM 2).
PubMed=15589120; DOI=10.1016/j.ymgme.2004.10.002;
Ho J., Zhang Y.H., Huang B.L., McCabe E.R.B.;
"NR0B1A: an alternatively spliced form of NR0B1.";
Mol. Genet. Metab. 83:330-336(2004).
[7]
REVIEW.
PubMed=16146703; DOI=10.1016/j.ymgme.2005.07.019;
Niakan K.K., McCabe E.R.B.;
"DAX1 origin, function, and novel role.";
Mol. Genet. Metab. 86:70-83(2005).
[8]
HOMODIMERIZATION, HETERODIMERIZATION WITH NR0B2, SUBCELLULAR LOCATION,
AND MUTAGENESIS OF 16-MET-LEU-17; 83-MET-LEU-84; 149-LEU-LEU-150 AND
461-MET-MET-462.
PubMed=16709599; DOI=10.1210/me.2005-0383;
Iyer A.K., Zhang Y.-H., McCabe E.R.B.;
"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.";
Mol. Endocrinol. 20:2326-2342(2006).
[9]
VARIANTS AHC PRO-267 AND VAL-269 DEL.
PubMed=7990958; DOI=10.1038/372672a0;
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.;
"Mutations in the DAX-1 gene give rise to both X-linked adrenal
hypoplasia congenita and hypogonadotropic hypogonadism.";
Nature 372:672-676(1994).
[10]
VARIANT AHC ILE-440.
PubMed=9003500; DOI=10.1007/s004390050316;
Schwartz M., Blichfeldt S., Mueller J.;
"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.";
Hum. Genet. 99:83-87(1997).
[11]
VARIANTS AHC CYS-291 AND ASN-382.
PubMed=9360549; DOI=10.1210/jcem.82.11.4342;
Nakae J., Abe S., Tajima T., Shinohara N., Murashita M., Igarashi Y.,
Kusuda S., Suzuki J., Fujieda K.;
"Three novel mutations and a de novo deletion mutation of the DAX-1
gene in patients with X-linked adrenal hypoplasia congenita.";
J. Clin. Endocrinol. Metab. 82:3835-3841(1997).
[12]
VARIANT AHC VAL-300.
PubMed=9063431; DOI=10.1016/S0022-3476(97)70217-8;
Takahashi T., Shoji Y., Shoji Y., Haraguchi N., Takahashi I.,
Takada G.;
"Active hypothalamic-pituitary-gonadal axis in an infant with X-linked
adrenal hypoplasia congenita.";
J. Pediatr. 130:485-488(1997).
[13]
CHARACTERIZATION OF VARIANTS AHC PRO-267 AND VAL-269 DEL.
PubMed=9415399; DOI=10.1210/mend.11.13.0038;
Lalli E., Bardoni B., Zazopoulos E., Wurtz J.-M., Strom T.M.,
Moras D., Sassone-Corsi P.;
"A transcriptional silencing domain in DAX-1 whose mutation causes
adrenal hypoplasia congenita.";
Mol. Endocrinol. 11:1950-1960(1997).
[14]
VARIANTS AHC LYS-377; GLY-385 AND GLY-425.
PubMed=9529340; DOI=10.1086/301782;
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., Pappas J.G., Quigley C.A.,
Rosenthal I.M., Baxter J.D., Fletterick R.J., McCabe E.R.B.;
"DAX1 mutations map to putative structural domains in a deduced three-
dimensional model.";
Am. J. Hum. Genet. 62:855-864(1998).
[15]
INVOLVEMENT IN SRXY2.
PubMed=9486644; DOI=10.1038/35799;
Swain A., Narvaez V., Burgoyne P., Camerino G., Lovell-Badge R.;
"Dax1 antagonizes Sry action in mammalian sex determination.";
Nature 391:761-767(1998).
[16]
VARIANT AHC ARG-466.
PubMed=10323730;
DOI=10.1002/(SICI)1096-8628(19990521)84:2<87::AID-AJMG1>3.0.CO;2-7;
Abe S., Nakae J., Yasoshima K., Tajima T., Shinohara N., Murashita M.,
Satoh K., Koike A., Takahashi Y., Fujieda K.;
"Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient
with X-linked congenital adrenal hypoplasia.";
Am. J. Med. Genet. 84:87-89(1999).
[17]
VARIANT AHC PRO-278.
PubMed=10341858; DOI=10.1046/j.1365-2265.1999.00601.x;
Bassett J.H.D., O'Halloran D.J., Williams G.R., Beardwell C.G.,
Shalet S.M., Thakker R.V.;
"Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and
hypogonadotrophic hypogonadism.";
Clin. Endocrinol. (Oxf.) 50:69-75(1999).
[18]
VARIANT AHC SER-439.
PubMed=10675358; DOI=10.1172/JCI7212;
Tabarin A., Achermann J.C., Recan D., Bex V., Bertagna X.,
Christin-Maitre S., Ito M., Jameson J.L., Bouchard P.;
"A novel mutation in DAX1 causes delayed-onset adrenal insufficiency
and incomplete hypogonadotropic hypogonadism.";
J. Clin. Invest. 105:321-328(2000).
[19]
VARIANT AHC HIS-381.
PubMed=11113848; DOI=10.1067/mpd.2000.108567;
Achermann J.C., Silverman B.L., Habiby R.L., Jameson J.L.;
"Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by
analysis of DAX1.";
J. Pediatr. 137:878-881(2000).
[20]
CHARACTERIZATION OF VARIANTS AHC PRO-267; VAL-269 DEL AND ILE-440.
PubMed=10848616; DOI=10.1128/MCB.20.13.4910-4921.2000;
Lalli E., Ohe K., Hindelang C., Sassone-Corsi P.;
"Orphan receptor DAX-1 is a shuttling RNA binding protein associated
with polyribosomes via mRNA.";
Mol. Cell. Biol. 20:4910-4921(2000).
[21]
VARIANTS AHC PRO-295 AND THR-425.
PubMed=11748852; DOI=10.1002/humu.1236;
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.;
"Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia
congenita.";
Hum. Mutat. 18:547-547(2001).
[22]
VARIANTS AHC PRO-300 AND LYS-377, AND CHARACTERIZATION OF VARIANTS.
PubMed=11443184; DOI=10.1210/jcem.86.7.7660;
Achermann J.C., Ito M., Silverman B.L., Habiby R.L., Pang S.,
Rosler A., Jameson J.L.;
"Missense mutations cluster within the carboxyl-terminal region of
DAX-1 and impair transcriptional repression.";
J. Clin. Endocrinol. Metab. 86:3171-3175(2001).
[23]
VARIANT AHC ASP-380.
PubMed=11788621; DOI=10.1210/jcem.87.1.8163;
Mantovani G., Ozisik G., Achermann J.C., Romoli R., Borretta G.,
Persani L., Spada A., Jameson J.L., Beck-Peccoz P.;
"Hypogonadotropic hypogonadism as a presenting feature of late-onset
X-linked adrenal hypoplasia congenita.";
J. Clin. Endocrinol. Metab. 87:44-48(2002).
[24]
VARIANT AHC PRO-297, AND CHARACTERIZATION OF VARIANT AHC PRO-297.
PubMed=12629128; DOI=10.1210/jc.2002-021560;
Brown P., Scobie G.A., Townsend J., Bayne R.A.L., Seckl J.R.,
Saunders P.T.K., Anderson R.A.;
"Identification of a novel missense mutation that is as damaging to
DAX-1 repressor function as a nonsense mutation.";
J. Clin. Endocrinol. Metab. 88:1341-1349(2003).
[25]
VARIANT AHC GLY-287.
PubMed=15800903; DOI=10.1002/ajmg.a.30670;
Franzese A., Brunetti-Pierri N., Spagnuolo M.I., Spadaro R.,
Giugliano M., Mukai T., Valerio G.;
"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.";
Am. J. Med. Genet. A 135:72-74(2005).
[26]
ERRATUM.
Franzese A., Brunetti-Pierri N., Spagnuolo M.I., Spadaro R.,
Giugliano M., Mukai T., Valerio G.;
Am. J. Med. Genet. A 137:115-115(2005).
-!- 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 (By similarity). {ECO:0000250}.
-!- SUBUNIT: Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with
COPS2. Interacts with ESRRB; represses ESRRB activity at the GATA6
promoter (By similarity). {ECO:0000250|UniProtKB:Q61066,
ECO:0000269|PubMed:10713076, ECO:0000269|PubMed:12482977}.
-!- INTERACTION:
P62508:ESRRG; NbExp=3; IntAct=EBI-946109, EBI-2834260;
Q13285:NR5A1; NbExp=8; IntAct=EBI-946109, EBI-874629;
P35398:RORA; NbExp=2; IntAct=EBI-946109, EBI-748689;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16709599}.
Cytoplasm {ECO:0000269|PubMed:16709599}. Note=Shuttles between the
cytoplasm and nucleus. Homodimers exits in the cytoplasm and in
the nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P51843-1; Sequence=Displayed;
Name=2; Synonyms=NR0B1A;
IsoId=P51843-2; Sequence=VSP_023557, VSP_023558;
Note=More abundant than isoform 1 in all tissues tested except
testis where they are nearly equal.;
-!- DOMAIN: Homodimerization involved an interaction between amino and
carboxy termini involving LXXLL motifs and steroid binding domain
(AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-
terminal LXXLL motifs.
-!- DISEASE: Adrenal hypoplasia, congenital (AHC) [MIM:300200]: A
disorder of adrenal gland development characterized by absence of
the permanent zone of the adrenal cortex, structural
disorganization of the adrenal glands, adrenal insufficiency and
profound hormonal deficiencies. AHC patients manifest primary
adrenal failure usually in early infancy, and hypogonadotropic
hypogonadism leading to absent or incomplete sexual maturation.
AHC can be inherited in an X-linked or autosomal recessive
pattern. {ECO:0000269|PubMed:10323730,
ECO:0000269|PubMed:10341858, ECO:0000269|PubMed:10675358,
ECO:0000269|PubMed:10848616, ECO:0000269|PubMed:11113848,
ECO:0000269|PubMed:11443184, ECO:0000269|PubMed:11748852,
ECO:0000269|PubMed:11788621, ECO:0000269|PubMed:12629128,
ECO:0000269|PubMed:15800903, ECO:0000269|PubMed:7990958,
ECO:0000269|PubMed:9003500, ECO:0000269|PubMed:9063431,
ECO:0000269|PubMed:9360549, ECO:0000269|PubMed:9415399,
ECO:0000269|PubMed:9529340}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: 46,XY sex reversal 2 (SRXY2) [MIM:300018]: A condition
characterized by male-to-female sex reversal in the presence of a
normal 46,XY karyotype. {ECO:0000269|PubMed:9486644}. Note=The
disease is caused by mutations affecting the gene represented in
this entry. XY individuals with a duplication of part of the short
arm of the X chromosome and an intact SRY gene develop as females.
The single X chromosome in these individuals does not undergo X-
chromosome inactivation; therefore, these individuals presumably
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 dosage-sensitive sex reversal
region are, therefore, not essential for testis development, but,
when present in a double dose, interfere with testis formation.
-!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR0
subfamily. {ECO:0000305}.
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EMBL; S74720; AAB32751.1; -; mRNA.
EMBL; U31929; AAC13875.1; -; Genomic_DNA.
EMBL; BC011564; AAH11564.1; -; mRNA.
CCDS; CCDS14223.1; -. [P51843-1]
PIR; S50854; S50854.
RefSeq; NP_000466.2; NM_000475.4. [P51843-1]
RefSeq; XP_016884827.1; XM_017029338.1. [P51843-2]
UniGene; Hs.268490; -.
PDB; 4RWV; X-ray; 1.86 A; B=140-154.
PDBsum; 4RWV; -.
ProteinModelPortal; P51843; -.
SMR; P51843; -.
BioGrid; 106695; 15.
IntAct; P51843; 4.
MINT; MINT-2855705; -.
STRING; 9606.ENSP00000368253; -.
BindingDB; P51843; -.
ChEMBL; CHEMBL1795094; -.
DrugBank; DB01234; Dexamethasone.
DrugBank; DB00755; Tretinoin.
iPTMnet; P51843; -.
PhosphoSitePlus; P51843; -.
BioMuta; NR0B1; -.
DMDM; 20532385; -.
EPD; P51843; -.
MaxQB; P51843; -.
PaxDb; P51843; -.
PeptideAtlas; P51843; -.
PRIDE; P51843; -.
DNASU; 190; -.
Ensembl; ENST00000378970; ENSP00000368253; ENSG00000169297. [P51843-1]
GeneID; 190; -.
KEGG; hsa:190; -.
UCSC; uc004dcf.5; human. [P51843-1]
CTD; 190; -.
DisGeNET; 190; -.
EuPathDB; HostDB:ENSG00000169297.7; -.
GeneCards; NR0B1; -.
GeneReviews; NR0B1; -.
HGNC; HGNC:7960; NR0B1.
HPA; HPA070839; -.
MalaCards; NR0B1; -.
MIM; 300018; phenotype.
MIM; 300200; phenotype.
MIM; 300473; gene.
neXtProt; NX_P51843; -.
OpenTargets; ENSG00000169297; -.
Orphanet; 242; 46,XY complete gonadal dysgenesis.
Orphanet; 251510; 46,XY partial gonadal dysgenesis.
Orphanet; 95702; Cytomegalic congenital adrenal hypoplasia.
PharmGKB; PA31746; -.
eggNOG; KOG3575; Eukaryota.
eggNOG; ENOG410XRZC; LUCA.
GeneTree; ENSGT00390000015719; -.
HOGENOM; HOG000231151; -.
HOVERGEN; HBG005453; -.
InParanoid; P51843; -.
KO; K08562; -.
OMA; CCFCGED; -.
OrthoDB; EOG091G0FGK; -.
PhylomeDB; P51843; -.
TreeFam; TF332386; -.
Reactome; R-HSA-383280; Nuclear Receptor transcription pathway.
SignaLink; P51843; -.
SIGNOR; P51843; -.
GeneWiki; DAX1; -.
GenomeRNAi; 190; -.
PRO; PR:P51843; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000169297; -.
CleanEx; HS_NR0B1; -.
ExpressionAtlas; P51843; baseline and differential.
Genevisible; P51843; HS.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0016020; C:membrane; IDA:BHF-UCL.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0042788; C:polysomal ribosome; IDA:HGNC.
GO; GO:0050682; F:AF-2 domain binding; IPI:UniProtKB.
GO; GO:0003677; F:DNA binding; IDA:HGNC.
GO; GO:0032448; F:DNA hairpin binding; IDA:HGNC.
GO; GO:0004879; F:nuclear receptor activity; IDA:BHF-UCL.
GO; GO:0019904; F:protein domain specific binding; IPI:UniProtKB.
GO; GO:0042803; F:protein homodimerization activity; IPI:UniProtKB.
GO; GO:0003723; F:RNA binding; IDA:HGNC.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:HGNC.
GO; GO:0003707; F:steroid hormone receptor activity; IEA:InterPro.
GO; GO:0035258; F:steroid hormone receptor binding; IPI:UniProtKB.
GO; GO:0003714; F:transcription corepressor activity; IMP:BHF-UCL.
GO; GO:0008134; F:transcription factor binding; IPI:BHF-UCL.
GO; GO:0030325; P:adrenal gland development; IMP:HGNC.
GO; GO:0008406; P:gonad development; IMP:HGNC.
GO; GO:0021854; P:hypothalamus development; NAS:UniProtKB.
GO; GO:0033327; P:Leydig cell differentiation; IEA:Ensembl.
GO; GO:0008584; P:male gonad development; IMP:UniProtKB.
GO; GO:0030238; P:male sex determination; IEA:Ensembl.
GO; GO:0045596; P:negative regulation of cell differentiation; IEA:Ensembl.
GO; GO:0033144; P:negative regulation of intracellular steroid hormone receptor signaling pathway; IDA:UniProtKB.
GO; GO:0043433; P:negative regulation of sequence-specific DNA binding transcription factor activity; IMP:BHF-UCL.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IEA:Ensembl.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:HGNC.
GO; GO:0021983; P:pituitary gland development; NAS:UniProtKB.
GO; GO:0008104; P:protein localization; IDA:UniProtKB.
GO; GO:0035902; P:response to immobilization stress; IEA:Ensembl.
GO; GO:0060008; P:Sertoli cell differentiation; IEA:Ensembl.
GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
GO; GO:0006694; P:steroid biosynthetic process; IDA:HGNC.
GO; GO:0006367; P:transcription initiation from RNA polymerase II promoter; TAS:Reactome.
Gene3D; 1.10.565.10; -; 1.
InterPro; IPR035500; NHR_like_dom_sf.
InterPro; IPR033544; NR0B1.
InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd.
InterPro; IPR001723; Nuclear_hrmn_rcpt.
InterPro; IPR025900; Nuclear_receptor_repeat.
PANTHER; PTHR24081:SF1; PTHR24081:SF1; 5.
Pfam; PF00104; Hormone_recep; 1.
Pfam; PF14046; NR_Repeat; 4.
PRINTS; PR00398; STRDHORMONER.
SMART; SM00430; HOLI; 1.
SUPFAM; SSF48508; SSF48508; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome; Cytoplasm;
Disease mutation; Nucleus; Receptor; Reference proteome; Repeat;
Repressor; Transcription; Transcription regulation.
CHAIN 1 470 Nuclear receptor subfamily 0 group B
member 1.
/FTId=PRO_0000053748.
REPEAT 1 67 1.
REPEAT 68 133 2.
REPEAT 134 200 3.
REPEAT 201 253 4; truncated.
REGION 1 253 4 X 67 AA tandem repeats.
REGION 254 470 Ligand-binding. {ECO:0000250}.
MOTIF 13 17 LXXLL motif 1.
MOTIF 80 84 LXXLL motif 2.
MOTIF 146 150 LXXLL motif 3.
MOTIF 461 466 AF-2 motif.
VAR_SEQ 390 400 DVPGLQCVKYI -> GKGKENDCNHH (in isoform
2). {ECO:0000305}.
/FTId=VSP_023557.
VAR_SEQ 401 470 Missing (in isoform 2). {ECO:0000305}.
/FTId=VSP_023558.
VARIANT 267 267 R -> P (in AHC; impairs transcriptional
silencing of the StAR promoter;
dbSNP:rs104894888).
{ECO:0000269|PubMed:10848616,
ECO:0000269|PubMed:7990958,
ECO:0000269|PubMed:9415399}.
/FTId=VAR_004738.
VARIANT 269 269 Missing (in AHC; impairs transcriptional
silencing of the StAR promoter).
{ECO:0000269|PubMed:10848616,
ECO:0000269|PubMed:7990958,
ECO:0000269|PubMed:9415399}.
/FTId=VAR_004739.
VARIANT 278 278 L -> P (in AHC).
{ECO:0000269|PubMed:10341858}.
/FTId=VAR_031079.
VARIANT 287 287 V -> G (in AHC; the patient presents an
inappropriate tall stature and renal
ectopy). {ECO:0000269|PubMed:15800903}.
/FTId=VAR_004740.
VARIANT 291 291 W -> C (in AHC; dbSNP:rs28935482).
{ECO:0000269|PubMed:9360549}.
/FTId=VAR_031080.
VARIANT 295 295 L -> P (in AHC).
{ECO:0000269|PubMed:11748852}.
/FTId=VAR_018303.
VARIANT 297 297 L -> P (in AHC; results in a severe loss
of repressor activity;
dbSNP:rs104894907).
{ECO:0000269|PubMed:12629128}.
/FTId=VAR_031081.
VARIANT 300 300 A -> P (in AHC).
{ECO:0000269|PubMed:11443184}.
/FTId=VAR_018304.
VARIANT 300 300 A -> V (in AHC).
{ECO:0000269|PubMed:9063431}.
/FTId=VAR_004741.
VARIANT 377 377 E -> K (in AHC).
{ECO:0000269|PubMed:11443184,
ECO:0000269|PubMed:9529340}.
/FTId=VAR_004742.
VARIANT 380 380 Y -> D (in AHC; dbSNP:rs104894900).
{ECO:0000269|PubMed:11788621}.
/FTId=VAR_018300.
VARIANT 381 381 L -> H (in AHC; dbSNP:rs104894899).
{ECO:0000269|PubMed:11113848}.
/FTId=VAR_018301.
VARIANT 382 382 K -> N (in AHC; dbSNP:rs28935180).
{ECO:0000269|PubMed:9360549}.
/FTId=VAR_004743.
VARIANT 385 385 V -> G (in AHC).
{ECO:0000269|PubMed:9529340}.
/FTId=VAR_004744.
VARIANT 425 425 R -> G (in AHC).
{ECO:0000269|PubMed:9529340}.
/FTId=VAR_004745.
VARIANT 425 425 R -> T (in AHC).
{ECO:0000269|PubMed:11748852}.
/FTId=VAR_018305.
VARIANT 439 439 I -> S (in AHC; mild phenotype;
dbSNP:rs104894897).
{ECO:0000269|PubMed:10675358}.
/FTId=VAR_018302.
VARIANT 440 440 N -> I (in AHC; impairs RNA-binding
activity; dbSNP:rs28935481).
{ECO:0000269|PubMed:10848616,
ECO:0000269|PubMed:9003500}.
/FTId=VAR_004746.
VARIANT 466 466 L -> R (in AHC).
{ECO:0000269|PubMed:10323730}.
/FTId=VAR_018306.
MUTAGEN 16 17 ML->AA: Strongly reduces homodimerization
and interaction with NR0B2.
{ECO:0000269|PubMed:16709599}.
MUTAGEN 83 84 ML->AA: Strongly reduces homodimerization
and interaction with NR0B2.
{ECO:0000269|PubMed:16709599}.
MUTAGEN 149 150 LL->AA: Strongly reduces homodimerization
and interaction with NR0B2.
{ECO:0000269|PubMed:16709599}.
MUTAGEN 461 462 MM->AA: Strongly reduces homodimerization
and interaction with NR0B2.
{ECO:0000269|PubMed:16709599}.
CONFLICT 4 4 E -> Q (in Ref. 2; AAC13875).
{ECO:0000305}.
HELIX 145 151 {ECO:0000244|PDB:4RWV}.
SEQUENCE 470 AA; 51718 MW; 214E237097DF9786 CRC64;
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


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