NR0B1_HUMAN
ID NR0B1_HUMAN Reviewed; 470 AA.
AC P51843; Q96F69;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2002, sequence version 2.
DT 03-AUG-2022, entry version 210.
DE RecName: Full=Nuclear receptor subfamily 0 group B member 1;
DE AltName: Full=DSS-AHC critical region on the X chromosome protein 1;
DE AltName: Full=Nuclear receptor DAX-1;
GN Name=NR0B1; Synonyms=AHC, DAX1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=7990953; DOI=10.1038/372635a0;
RA Zanaria E., Muscatelli F., Bardoni B., Strom T.M., Guioli S., Guo W.,
RA Lalli E., Moser C., Walker A.P., McCabe E.R.B., Meitinger T., Monaco A.P.,
RA Sassone-Corsi P., Camerino G.;
RT "An unusual member of the nuclear hormone receptor superfamily responsible
RT for X-linked adrenal hypoplasia congenita.";
RL Nature 372:635-641(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=8675564; DOI=10.1210/jcem.81.7.8675564;
RA Guo W., Burris T.P., Zhang Y.H., Huang B.L., Mason J., Copeland K.C.,
RA Kupfer S.R., Pagon R.A., McCabe E.R.B.;
RT "Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible
RT for X-linked adrenal hypoplasia congenita and hypogonadotropic
RT hypogonadism.";
RL J. Clin. Endocrinol. Metab. 81:2481-2486(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP INTERACTION WITH COPS2.
RX PubMed=10713076; DOI=10.1074/jbc.275.11.7662;
RA Altincicek B., Tenbaum S.P., Dressel U., Thormeyer D., Renkawitz R.,
RA Baniahmad A.;
RT "Interaction of the corepressor Alien with DAX-1 is abrogated by mutations
RT of DAX-1 involved in adrenal hypoplasia congenita.";
RL J. Biol. Chem. 275:7662-7667(2000).
RN [5]
RP INTERACTION WITH NR5A1 AND NR5A2.
RX PubMed=12482977; DOI=10.1128/mcb.23.1.238-249.2003;
RA Suzuki T., Kasahara M., Yoshioka H., Morohashi K., Umesono K.;
RT "LXXLL-related motifs in Dax-1 have target specificity for the orphan
RT nuclear receptors Ad4BP/SF-1 and LRH-1.";
RL Mol. Cell. Biol. 23:238-249(2003).
RN [6]
RP ALTERNATIVE SPLICING (ISOFORM 2).
RX PubMed=15589120; DOI=10.1016/j.ymgme.2004.10.002;
RA Ho J., Zhang Y.H., Huang B.L., McCabe E.R.B.;
RT "NR0B1A: an alternatively spliced form of NR0B1.";
RL Mol. Genet. Metab. 83:330-336(2004).
RN [7]
RP REVIEW.
RX PubMed=16146703; DOI=10.1016/j.ymgme.2005.07.019;
RA Niakan K.K., McCabe E.R.B.;
RT "DAX1 origin, function, and novel role.";
RL Mol. Genet. Metab. 86:70-83(2005).
RN [8]
RP HOMODIMERIZATION, HETERODIMERIZATION WITH NR0B2, SUBCELLULAR LOCATION, AND
RP MUTAGENESIS OF 16-MET-LEU-17; 83-MET-LEU-84; 149-LEU-LEU-150 AND
RP 461-MET-MET-462.
RX PubMed=16709599; DOI=10.1210/me.2005-0383;
RA Iyer A.K., Zhang Y.-H., McCabe E.R.B.;
RT "Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region
RT on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner
RT (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP
RT heterodimers.";
RL Mol. Endocrinol. 20:2326-2342(2006).
RN [9]
RP VARIANTS AHC PRO-267 AND VAL-269 DEL.
RX PubMed=7990958; DOI=10.1038/372672a0;
RA Muscatelli F., Strom T.M., Walker A.P., Zanaria E., Recan D., Meindl A.,
RA Bardoni B., Guioli S., Zehetner G., Rabl W., Schwarz H.P., Kaplan J.-C.,
RA Camerino G., Meitinger T., Monaco A.P.;
RT "Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia
RT congenita and hypogonadotropic hypogonadism.";
RL Nature 372:672-676(1994).
RN [10]
RP VARIANT AHC ILE-440.
RX PubMed=9003500; DOI=10.1007/s004390050316;
RA Schwartz M., Blichfeldt S., Mueller J.;
RT "X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a
RT missense mutation (N4401) in the DAX-1 gene; implication for genetic
RT counselling and carrier diagnosis.";
RL Hum. Genet. 99:83-87(1997).
RN [11]
RP VARIANTS AHC CYS-291 AND ASN-382.
RX PubMed=9360549; DOI=10.1210/jcem.82.11.4342;
RA Nakae J., Abe S., Tajima T., Shinohara N., Murashita M., Igarashi Y.,
RA Kusuda S., Suzuki J., Fujieda K.;
RT "Three novel mutations and a de novo deletion mutation of the DAX-1 gene in
RT patients with X-linked adrenal hypoplasia congenita.";
RL J. Clin. Endocrinol. Metab. 82:3835-3841(1997).
RN [12]
RP VARIANT AHC VAL-300.
RX PubMed=9063431; DOI=10.1016/s0022-3476(97)70217-8;
RA Takahashi T., Shoji Y., Shoji Y., Haraguchi N., Takahashi I., Takada G.;
RT "Active hypothalamic-pituitary-gonadal axis in an infant with X-linked
RT adrenal hypoplasia congenita.";
RL J. Pediatr. 130:485-488(1997).
RN [13]
RP CHARACTERIZATION OF VARIANTS AHC PRO-267 AND VAL-269 DEL.
RX PubMed=9415399; DOI=10.1210/mend.11.13.0038;
RA Lalli E., Bardoni B., Zazopoulos E., Wurtz J.-M., Strom T.M., Moras D.,
RA Sassone-Corsi P.;
RT "A transcriptional silencing domain in DAX-1 whose mutation causes adrenal
RT hypoplasia congenita.";
RL Mol. Endocrinol. 11:1950-1960(1997).
RN [14]
RP VARIANTS AHC LYS-377; GLY-385 AND GLY-425.
RX PubMed=9529340; DOI=10.1086/301782;
RA Zhang Y.-H., Guo W., Wagner R.L., Huang B.-L., McCabe L.L., Vilain E.,
RA Burris T.P., Anyane-Yeboa K., Burghes A.H.M., Chitayat D., Chudley A.E.,
RA Genel M., Gertner J.M., Klingensmith G.J., Levine S.N., Nakamoto J.,
RA New M.I., Pagon R.A., Pappas J.G., Quigley C.A., Rosenthal I.M.,
RA Baxter J.D., Fletterick R.J., McCabe E.R.B.;
RT "DAX1 mutations map to putative structural domains in a deduced three-
RT dimensional model.";
RL Am. J. Hum. Genet. 62:855-864(1998).
RN [15]
RP INVOLVEMENT IN SRXY2.
RX PubMed=9486644; DOI=10.1038/35799;
RA Swain A., Narvaez V., Burgoyne P., Camerino G., Lovell-Badge R.;
RT "Dax1 antagonizes Sry action in mammalian sex determination.";
RL Nature 391:761-767(1998).
RN [16]
RP VARIANT AHC ARG-466.
RX PubMed=10323730;
RX DOI=10.1002/(sici)1096-8628(19990521)84:2<87::aid-ajmg1>3.0.co;2-7;
RA Abe S., Nakae J., Yasoshima K., Tajima T., Shinohara N., Murashita M.,
RA Satoh K., Koike A., Takahashi Y., Fujieda K.;
RT "Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-
RT linked congenital adrenal hypoplasia.";
RL Am. J. Med. Genet. 84:87-89(1999).
RN [17]
RP VARIANT AHC PRO-278.
RX PubMed=10341858; DOI=10.1046/j.1365-2265.1999.00601.x;
RA Bassett J.H.D., O'Halloran D.J., Williams G.R., Beardwell C.G.,
RA Shalet S.M., Thakker R.V.;
RT "Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and
RT hypogonadotrophic hypogonadism.";
RL Clin. Endocrinol. (Oxf.) 50:69-75(1999).
RN [18]
RP VARIANT AHC SER-439.
RX PubMed=10675358; DOI=10.1172/jci7212;
RA Tabarin A., Achermann J.C., Recan D., Bex V., Bertagna X.,
RA Christin-Maitre S., Ito M., Jameson J.L., Bouchard P.;
RT "A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and
RT incomplete hypogonadotropic hypogonadism.";
RL J. Clin. Invest. 105:321-328(2000).
RN [19]
RP VARIANT AHC HIS-381.
RX PubMed=11113848; DOI=10.1067/mpd.2000.108567;
RA Achermann J.C., Silverman B.L., Habiby R.L., Jameson J.L.;
RT "Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by
RT analysis of DAX1.";
RL J. Pediatr. 137:878-881(2000).
RN [20]
RP CHARACTERIZATION OF VARIANTS AHC PRO-267; VAL-269 DEL AND ILE-440.
RX PubMed=10848616; DOI=10.1128/mcb.20.13.4910-4921.2000;
RA Lalli E., Ohe K., Hindelang C., Sassone-Corsi P.;
RT "Orphan receptor DAX-1 is a shuttling RNA binding protein associated with
RT polyribosomes via mRNA.";
RL Mol. Cell. Biol. 20:4910-4921(2000).
RN [21]
RP VARIANTS AHC PRO-295 AND THR-425.
RX PubMed=11748852; DOI=10.1002/humu.1236;
RA Zhang Y.H., Huang B.L., Anyane-Yeboa K., Carvalho J.A., Clemons R.D.,
RA Cole T., De Figueiredo B.C., Lubinsky M., Metzger D.L., Quadrelli R.,
RA Repaske D.R., Reyno S., Seaver L.H., Vaglio A., van Vliet G., McCabe L.L.,
RA McCabe E.R.B., Phelan J.K.;
RT "Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia
RT congenita.";
RL Hum. Mutat. 18:547-547(2001).
RN [22]
RP VARIANTS AHC PRO-300 AND LYS-377, AND CHARACTERIZATION OF VARIANTS.
RX PubMed=11443184; DOI=10.1210/jcem.86.7.7660;
RA Achermann J.C., Ito M., Silverman B.L., Habiby R.L., Pang S., Rosler A.,
RA Jameson J.L.;
RT "Missense mutations cluster within the carboxyl-terminal region of DAX-1
RT and impair transcriptional repression.";
RL J. Clin. Endocrinol. Metab. 86:3171-3175(2001).
RN [23]
RP VARIANT AHC ASP-380.
RX PubMed=11788621; DOI=10.1210/jcem.87.1.8163;
RA Mantovani G., Ozisik G., Achermann J.C., Romoli R., Borretta G.,
RA Persani L., Spada A., Jameson J.L., Beck-Peccoz P.;
RT "Hypogonadotropic hypogonadism as a presenting feature of late-onset X-
RT linked adrenal hypoplasia congenita.";
RL J. Clin. Endocrinol. Metab. 87:44-48(2002).
RN [24]
RP VARIANT AHC PRO-297, AND CHARACTERIZATION OF VARIANT AHC PRO-297.
RX PubMed=12629128; DOI=10.1210/jc.2002-021560;
RA Brown P., Scobie G.A., Townsend J., Bayne R.A.L., Seckl J.R.,
RA Saunders P.T.K., Anderson R.A.;
RT "Identification of a novel missense mutation that is as damaging to DAX-1
RT repressor function as a nonsense mutation.";
RL J. Clin. Endocrinol. Metab. 88:1341-1349(2003).
RN [25]
RP VARIANT AHC GLY-287.
RX PubMed=15800903; DOI=10.1002/ajmg.a.30670;
RA Franzese A., Brunetti-Pierri N., Spagnuolo M.I., Spadaro R., Giugliano M.,
RA Mukai T., Valerio G.;
RT "Inappropriate tall stature and renal ectopy in a male patient with X-
RT linked congenital adrenal hypoplasia due to a novel missense mutation in
RT the DAX-1 gene.";
RL Am. J. Med. Genet. A 135:72-74(2005).
RN [26]
RP ERRATUM OF PUBMED:15800903.
RA Franzese A., Brunetti-Pierri N., Spagnuolo M.I., Spadaro R., Giugliano M.,
RA Mukai T., Valerio G.;
RL Am. J. Med. Genet. A 137:115-115(2005).
CC -!- FUNCTION: Orphan nuclear receptor. Component of a cascade required for
CC the development of the hypothalamic-pituitary-adrenal-gonadal axis.
CC Acts as a coregulatory protein that inhibits the transcriptional
CC activity of other nuclear receptors through heterodimeric interactions.
CC May also have a role in the development of the embryo and in the
CC maintenance of embryonic stem cell pluripotency (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2.
CC Interacts with ESRRB; represses ESRRB activity at the GATA6 promoter
CC (By similarity). {ECO:0000250|UniProtKB:Q61066,
CC ECO:0000269|PubMed:10713076, ECO:0000269|PubMed:12482977}.
CC -!- INTERACTION:
CC P51843; Q96G04: EEF2KMT; NbExp=3; IntAct=EBI-946109, EBI-747840;
CC P51843; P62508: ESRRG; NbExp=3; IntAct=EBI-946109, EBI-2834260;
CC P51843; P62508-3: ESRRG; NbExp=6; IntAct=EBI-946109, EBI-12001340;
CC P51843; Q13285: NR5A1; NbExp=9; IntAct=EBI-946109, EBI-874629;
CC P51843; P35398: RORA; NbExp=2; IntAct=EBI-946109, EBI-748689;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16709599}. Cytoplasm
CC {ECO:0000269|PubMed:16709599}. Note=Shuttles between the cytoplasm and
CC nucleus. Homodimers exits in the cytoplasm and in the nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P51843-1; Sequence=Displayed;
CC Name=2; Synonyms=NR0B1A;
CC IsoId=P51843-2; Sequence=VSP_023557, VSP_023558;
CC -!- DOMAIN: Homodimerization involved an interaction between amino and
CC carboxy termini involving LXXLL motifs and steroid binding domain (AF-2
CC motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal
CC LXXLL motifs.
CC -!- DISEASE: Adrenal hypoplasia, congenital (AHC) [MIM:300200]: A disorder
CC of adrenal gland development characterized by absence of the permanent
CC zone of the adrenal cortex, structural disorganization of the adrenal
CC glands, adrenal insufficiency and profound hormonal deficiencies. AHC
CC patients manifest primary adrenal failure usually in early infancy, and
CC hypogonadotropic hypogonadism leading to absent or incomplete sexual
CC maturation. AHC can be inherited in an X-linked or autosomal recessive
CC pattern. {ECO:0000269|PubMed:10323730, ECO:0000269|PubMed:10341858,
CC ECO:0000269|PubMed:10675358, ECO:0000269|PubMed:10848616,
CC ECO:0000269|PubMed:11113848, ECO:0000269|PubMed:11443184,
CC ECO:0000269|PubMed:11748852, ECO:0000269|PubMed:11788621,
CC ECO:0000269|PubMed:12629128, ECO:0000269|PubMed:15800903,
CC ECO:0000269|PubMed:7990958, ECO:0000269|PubMed:9003500,
CC ECO:0000269|PubMed:9063431, ECO:0000269|PubMed:9360549,
CC ECO:0000269|PubMed:9415399, ECO:0000269|PubMed:9529340}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: 46,XY sex reversal 2 (SRXY2) [MIM:300018]: A condition
CC characterized by male-to-female sex reversal in the presence of a
CC normal 46,XY karyotype. {ECO:0000269|PubMed:9486644}. Note=The disease
CC is caused by variants affecting the gene represented in this entry. XY
CC individuals with a duplication of part of the short arm of the X
CC chromosome and an intact SRY gene develop as females. The single X
CC chromosome in these individuals does not undergo X-chromosome
CC inactivation; therefore, these individuals presumably carry 2 active
CC copies of genes, including the NR0B1 gene, in the duplicated region.
CC Individuals with deletion of this region develop as males. Genes within
CC the dosage-sensitive sex reversal region are, therefore, not essential
CC for testis development, but, when present in a double dose, interfere
CC with testis formation.
CC -!- MISCELLANEOUS: [Isoform 2]: More abundant than isoform 1 in all tissues
CC tested except testis where they are nearly equal. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR0
CC subfamily. {ECO:0000305}.
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DR EMBL; S74720; AAB32751.1; -; mRNA.
DR EMBL; U31929; AAC13875.1; -; Genomic_DNA.
DR EMBL; BC011564; AAH11564.1; -; mRNA.
DR CCDS; CCDS14223.1; -. [P51843-1]
DR PIR; S50854; S50854.
DR RefSeq; NP_000466.2; NM_000475.4. [P51843-1]
DR RefSeq; XP_016884827.1; XM_017029338.1.
DR PDB; 4RWV; X-ray; 1.86 A; B=140-154.
DR PDBsum; 4RWV; -.
DR AlphaFoldDB; P51843; -.
DR SMR; P51843; -.
DR BioGRID; 106695; 17.
DR IntAct; P51843; 5.
DR STRING; 9606.ENSP00000368253; -.
DR BindingDB; P51843; -.
DR ChEMBL; CHEMBL1795094; -.
DR DrugBank; DB01234; Dexamethasone.
DR DrugBank; DB14649; Dexamethasone acetate.
DR iPTMnet; P51843; -.
DR PhosphoSitePlus; P51843; -.
DR BioMuta; NR0B1; -.
DR DMDM; 20532385; -.
DR MassIVE; P51843; -.
DR MaxQB; P51843; -.
DR PaxDb; P51843; -.
DR PeptideAtlas; P51843; -.
DR PRIDE; P51843; -.
DR ProteomicsDB; 56432; -. [P51843-1]
DR ProteomicsDB; 56433; -. [P51843-2]
DR Antibodypedia; 10329; 651 antibodies from 45 providers.
DR DNASU; 190; -.
DR Ensembl; ENST00000378970.5; ENSP00000368253.4; ENSG00000169297.8. [P51843-1]
DR GeneID; 190; -.
DR KEGG; hsa:190; -.
DR MANE-Select; ENST00000378970.5; ENSP00000368253.4; NM_000475.5; NP_000466.2.
DR UCSC; uc004dcf.5; human. [P51843-1]
DR CTD; 190; -.
DR DisGeNET; 190; -.
DR GeneCards; NR0B1; -.
DR GeneReviews; NR0B1; -.
DR HGNC; HGNC:7960; NR0B1.
DR HPA; ENSG00000169297; Group enriched (adrenal gland, testis).
DR MalaCards; NR0B1; -.
DR MIM; 300018; phenotype.
DR MIM; 300200; phenotype.
DR MIM; 300473; gene.
DR neXtProt; NX_P51843; -.
DR OpenTargets; ENSG00000169297; -.
DR Orphanet; 393; 46,XX testicular disorder of sex development.
DR Orphanet; 242; 46,XY complete gonadal dysgenesis.
DR Orphanet; 251510; 46,XY partial gonadal dysgenesis.
DR Orphanet; 95702; X-linked adrenal hypoplasia congenita.
DR PharmGKB; PA31746; -.
DR VEuPathDB; HostDB:ENSG00000169297; -.
DR eggNOG; KOG3575; Eukaryota.
DR GeneTree; ENSGT00390000015719; -.
DR HOGENOM; CLU_674314_0_0_1; -.
DR InParanoid; P51843; -.
DR OMA; WGCSCGA; -.
DR PhylomeDB; P51843; -.
DR TreeFam; TF332386; -.
DR PathwayCommons; P51843; -.
DR Reactome; R-HSA-383280; Nuclear Receptor transcription pathway.
DR SignaLink; P51843; -.
DR SIGNOR; P51843; -.
DR BioGRID-ORCS; 190; 9 hits in 717 CRISPR screens.
DR GeneWiki; DAX1; -.
DR GenomeRNAi; 190; -.
DR Pharos; P51843; Tbio.
DR PRO; PR:P51843; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P51843; protein.
DR Bgee; ENSG00000169297; Expressed in right adrenal gland and 99 other tissues.
DR ExpressionAtlas; P51843; baseline and differential.
DR Genevisible; P51843; HS.
DR GO; GO:0034451; C:centriolar satellite; IDA:HPA.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0016020; C:membrane; IDA:BHF-UCL.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0042788; C:polysomal ribosome; IDA:HGNC-UCL.
DR GO; GO:0050682; F:AF-2 domain binding; IPI:UniProtKB.
DR GO; GO:0032448; F:DNA hairpin binding; IDA:HGNC-UCL.
DR GO; GO:0016922; F:nuclear receptor binding; IPI:UniProtKB.
DR GO; GO:0019904; F:protein domain specific binding; IPI:UniProtKB.
DR GO; GO:0042803; F:protein homodimerization activity; IPI:UniProtKB.
DR GO; GO:0003723; F:RNA binding; IDA:HGNC-UCL.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IPI:BHF-UCL.
DR GO; GO:0003714; F:transcription corepressor activity; IMP:BHF-UCL.
DR GO; GO:0030325; P:adrenal gland development; IMP:HGNC-UCL.
DR GO; GO:0035987; P:endodermal cell differentiation; IEA:Ensembl.
DR GO; GO:0008406; P:gonad development; IMP:HGNC-UCL.
DR GO; GO:0021854; P:hypothalamus development; NAS:UniProtKB.
DR GO; GO:0033327; P:Leydig cell differentiation; IEA:Ensembl.
DR GO; GO:0008584; P:male gonad development; IMP:UniProtKB.
DR GO; GO:0030238; P:male sex determination; IEA:Ensembl.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; IMP:BHF-UCL.
DR GO; GO:0033144; P:negative regulation of intracellular steroid hormone receptor signaling pathway; IDA:UniProtKB.
DR GO; GO:0010894; P:negative regulation of steroid biosynthetic process; IDA:HGNC-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:HGNC-UCL.
DR GO; GO:0021983; P:pituitary gland development; NAS:UniProtKB.
DR GO; GO:0008104; P:protein localization; IDA:UniProtKB.
DR GO; GO:0035902; P:response to immobilization stress; IEA:Ensembl.
DR GO; GO:0060008; P:Sertoli cell differentiation; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; IBA:GO_Central.
DR Gene3D; 1.10.565.10; -; 1.
DR InterPro; IPR035500; NHR-like_dom_sf.
DR InterPro; IPR033544; NR0B1/2.
DR InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd.
DR InterPro; IPR001723; Nuclear_hrmn_rcpt.
DR InterPro; IPR025900; Nuclear_receptor_repeat.
DR PANTHER; PTHR24081; PTHR24081; 3.
DR Pfam; PF00104; Hormone_recep; 1.
DR Pfam; PF14046; NR_Repeat; 4.
DR PRINTS; PR00398; STRDHORMONER.
DR SMART; SM00430; HOLI; 1.
DR SUPFAM; SSF48508; SSF48508; 1.
DR PROSITE; PS51843; NR_LBD; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cytoplasm; Disease variant; Nucleus;
KW Receptor; Reference proteome; Repeat; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..470
FT /note="Nuclear receptor subfamily 0 group B member 1"
FT /id="PRO_0000053748"
FT REPEAT 1..67
FT /note="1"
FT REPEAT 68..133
FT /note="2"
FT REPEAT 134..200
FT /note="3"
FT REPEAT 201..253
FT /note="4; truncated"
FT DOMAIN 205..469
FT /note="NR LBD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01189"
FT REGION 1..253
FT /note="4 X 67 AA tandem repeats"
FT MOTIF 13..17
FT /note="LXXLL motif 1"
FT MOTIF 80..84
FT /note="LXXLL motif 2"
FT MOTIF 146..150
FT /note="LXXLL motif 3"
FT MOTIF 461..466
FT /note="AF-2 motif"
FT VAR_SEQ 390..400
FT /note="DVPGLQCVKYI -> GKGKENDCNHH (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_023557"
FT VAR_SEQ 401..470
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_023558"
FT VARIANT 267
FT /note="R -> P (in AHC; impairs transcriptional silencing of
FT the StAR promoter; dbSNP:rs104894888)"
FT /evidence="ECO:0000269|PubMed:10848616,
FT ECO:0000269|PubMed:7990958, ECO:0000269|PubMed:9415399"
FT /id="VAR_004738"
FT VARIANT 269
FT /note="Missing (in AHC; impairs transcriptional silencing
FT of the StAR promoter)"
FT /evidence="ECO:0000269|PubMed:10848616,
FT ECO:0000269|PubMed:7990958, ECO:0000269|PubMed:9415399"
FT /id="VAR_004739"
FT VARIANT 278
FT /note="L -> P (in AHC)"
FT /evidence="ECO:0000269|PubMed:10341858"
FT /id="VAR_031079"
FT VARIANT 287
FT /note="V -> G (in AHC; the patient presents an
FT inappropriate tall stature and renal ectopy)"
FT /evidence="ECO:0000269|PubMed:15800903"
FT /id="VAR_004740"
FT VARIANT 291
FT /note="W -> C (in AHC; dbSNP:rs28935482)"
FT /evidence="ECO:0000269|PubMed:9360549"
FT /id="VAR_031080"
FT VARIANT 295
FT /note="L -> P (in AHC)"
FT /evidence="ECO:0000269|PubMed:11748852"
FT /id="VAR_018303"
FT VARIANT 297
FT /note="L -> P (in AHC; results in a severe loss of
FT repressor activity; dbSNP:rs104894907)"
FT /evidence="ECO:0000269|PubMed:12629128"
FT /id="VAR_031081"
FT VARIANT 300
FT /note="A -> P (in AHC)"
FT /evidence="ECO:0000269|PubMed:11443184"
FT /id="VAR_018304"
FT VARIANT 300
FT /note="A -> V (in AHC)"
FT /evidence="ECO:0000269|PubMed:9063431"
FT /id="VAR_004741"
FT VARIANT 377
FT /note="E -> K (in AHC)"
FT /evidence="ECO:0000269|PubMed:11443184,
FT ECO:0000269|PubMed:9529340"
FT /id="VAR_004742"
FT VARIANT 380
FT /note="Y -> D (in AHC; dbSNP:rs104894900)"
FT /evidence="ECO:0000269|PubMed:11788621"
FT /id="VAR_018300"
FT VARIANT 381
FT /note="L -> H (in AHC; dbSNP:rs104894899)"
FT /evidence="ECO:0000269|PubMed:11113848"
FT /id="VAR_018301"
FT VARIANT 382
FT /note="K -> N (in AHC; dbSNP:rs104894896)"
FT /evidence="ECO:0000269|PubMed:9360549"
FT /id="VAR_004743"
FT VARIANT 385
FT /note="V -> G (in AHC)"
FT /evidence="ECO:0000269|PubMed:9529340"
FT /id="VAR_004744"
FT VARIANT 425
FT /note="R -> G (in AHC)"
FT /evidence="ECO:0000269|PubMed:9529340"
FT /id="VAR_004745"
FT VARIANT 425
FT /note="R -> T (in AHC)"
FT /evidence="ECO:0000269|PubMed:11748852"
FT /id="VAR_018305"
FT VARIANT 439
FT /note="I -> S (in AHC; mild phenotype; dbSNP:rs104894897)"
FT /evidence="ECO:0000269|PubMed:10675358"
FT /id="VAR_018302"
FT VARIANT 440
FT /note="N -> I (in AHC; impairs RNA-binding activity;
FT dbSNP:rs28935481)"
FT /evidence="ECO:0000269|PubMed:10848616,
FT ECO:0000269|PubMed:9003500"
FT /id="VAR_004746"
FT VARIANT 466
FT /note="L -> R (in AHC)"
FT /evidence="ECO:0000269|PubMed:10323730"
FT /id="VAR_018306"
FT MUTAGEN 16..17
FT /note="ML->AA: Strongly reduces homodimerization and
FT interaction with NR0B2."
FT /evidence="ECO:0000269|PubMed:16709599"
FT MUTAGEN 83..84
FT /note="ML->AA: Strongly reduces homodimerization and
FT interaction with NR0B2."
FT /evidence="ECO:0000269|PubMed:16709599"
FT MUTAGEN 149..150
FT /note="LL->AA: Strongly reduces homodimerization and
FT interaction with NR0B2."
FT /evidence="ECO:0000269|PubMed:16709599"
FT MUTAGEN 461..462
FT /note="MM->AA: Strongly reduces homodimerization and
FT interaction with NR0B2."
FT /evidence="ECO:0000269|PubMed:16709599"
FT CONFLICT 4
FT /note="E -> Q (in Ref. 2; AAC13875)"
FT /evidence="ECO:0000305"
FT HELIX 145..151
FT /evidence="ECO:0007829|PDB:4RWV"
SQ 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
