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 27-MAR-2024, entry version 219. 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>3.3.co;2-z; 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 20. DR IntAct; P51843; 4. DR STRING; 9606.ENSP00000368253; -. DR BindingDB; P51843; -. DR ChEMBL; CHEMBL1795094; -. DR DrugBank; DB01234; Dexamethasone. DR DrugBank; DB14649; Dexamethasone acetate. DR GlyGen; P51843; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; P51843; -. DR PhosphoSitePlus; P51843; -. DR BioMuta; NR0B1; -. DR DMDM; 20532385; -. DR MassIVE; P51843; -. DR MaxQB; P51843; -. DR PaxDb; 9606-ENSP00000368253; -. DR PeptideAtlas; P51843; -. DR ProteomicsDB; 56432; -. [P51843-1] DR ProteomicsDB; 56433; -. [P51843-2] DR Antibodypedia; 10329; 689 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 AGR; HGNC:7960; -. 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 difference 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; MAGEDHQ; -. DR OrthoDB; 5393882at2759; -. 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 791 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 101 other cell types or tissues. DR ExpressionAtlas; P51843; baseline and differential. 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:0005840; C: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:0045892; P:negative regulation of DNA-templated transcription; IDA:HGNC-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: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 CDD; cd07350; NR_LBD_Dax1; 1. DR Gene3D; 1.10.565.10; Retinoid X Receptor; 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; NUCLEAR RECEPTOR SUBFAMILY 0 GROUP B; 1. DR PANTHER; PTHR24081:SF1; NUCLEAR RECEPTOR SUBFAMILY 0 GROUP B MEMBER 1; 1. DR Pfam; PF00104; Hormone_recep; 1. DR Pfam; PF14046; NR_Repeat; 4. DR PRINTS; PR00398; STRDHORMONER. DR SMART; SM00430; HOLI; 1. DR SUPFAM; SSF48508; Nuclear receptor ligand-binding domain; 1. DR PROSITE; PS51843; NR_LBD; 1. DR Genevisible; P51843; HS. 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 //