P51843 (NR0B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nuclear receptor subfamily 0 group B member 1

Alternative name(s):
DSS-AHC critical region on the X chromosome protein 1
Nuclear receptor DAX-1

Gene names

Name:	NR0B1
Synonyms:	AHC, DAX1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	470 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subunit structure	Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2. Ref.4 Ref.5 Ref.8
Subcellular location	Nucleus. Cytoplasm. Note: Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus. Ref.8
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.
Involvement in disease	Defects in NR0B1 are the cause of X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]; also known as X-linked Addison disease (AHX). XL-AHC is a developmental disorder of the adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. It is characterized by the absence of the permanent zone of the adrenal cortex and by a structural disorganization of the glands. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. HHG is a condition resulting from or characterized by abnormally decreased gonadal function, with retardation of growth and sexual development. Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Defects in NR0B1 are the cause of 46,XY sex reversal type 2 (SRXY2) [MIM:300018]. It is a condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Note=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. Ref.15
Sequence similarities	Belongs to the nuclear hormone receptor family. NR0 subfamily.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Repeat
Molecular function	Receptor Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Uncategorized	ligand-regulated transcription factor activity Inferred from direct assay. Source: HGNC regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor Traceable author statement. Source: Reactome
Biological process	adrenal gland development Inferred from mutant phenotype Ref.1. Source: HGNC hypothalamus development Non-traceable author statement. Source: UniProtKB negative regulation of intracellular steroid hormone receptor signaling pathway Inferred from direct assay. Source: UniProtKB negative regulation of sequence-specific DNA binding transcription factor activity Inferred from mutant phenotype. Source: BHF-UCL pituitary gland development Non-traceable author statement. Source: UniProtKB protein localization Inferred from direct assay. Source: UniProtKB steroid biosynthetic process Inferred from direct assay. Source: HGNC transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay Ref.8. Source: UniProtKB membrane fraction Inferred from direct assay Ref.20. Source: HGNC nucleoplasm Traceable author statement. Source: Reactome nucleus Inferred from direct assay Ref.8. Source: UniProtKB polysomal ribosome Inferred from direct assay Ref.20. Source: HGNC
Molecular function	AF-2 domain binding Inferred from physical interaction. Source: UniProtKB DNA hairpin binding Inferred from direct assay. Source: HGNC RNA binding Inferred from direct assay Ref.20. Source: HGNC protein domain specific binding Inferred from physical interaction. Source: UniProtKB protein homodimerization activity Inferred from physical interaction Ref.8. Source: UniProtKB sequence-specific DNA binding Inferred from direct assay. Source: HGNC sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro steroid hormone receptor activity Inferred from electronic annotation. Source: InterPro steroid hormone receptor binding Inferred from physical interaction. Source: UniProtKB transcription corepressor activity Inferred from mutant phenotype. Source: BHF-UCL transcription factor binding Inferred from physical interaction. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
RORA	P35398	2	EBI-946109,EBI-748689

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P51843-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P51843-2)

Also known as: NR0B1A;

The sequence of this isoform differs from the canonical sequence as follows:
     390-400: DVPGLQCVKYI → GKGKENDCNHH
     401-470: Missing.

Note: More abundant than isoform 1 in all tissues tested except testis where they are nearly equal.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 470	470	Nuclear receptor subfamily 0 group B member 1		PRO_0000053748
Regions
	Repeat	1 – 67	67	1
	Repeat	68 – 133	66	2
	Repeat	134 – 200	67	3
	Repeat	201 – 253	53	4; truncated
	Region	1 – 253	253	4 X 67 AA tandem repeats
	Region	254 – 470	217	Ligand-binding By similarity
	Motif	13 – 17	5	LXXLL motif 1
	Motif	80 – 84	5	LXXLL motif 2
	Motif	146 – 150	5	LXXLL motif 3
	Motif	461 – 466	6	AF-2 motif
Natural variations
	Alternative sequence	390 – 400	11	DVPGLQCVKYI → GKGKENDCNHH in isoform 2.		VSP_023557
	Alternative sequence	401 – 470	70	Missing in isoform 2.		VSP_023558
	Natural variant	267	1	R → P in XL-AHC; impairs transcriptional silencing of the StAR promoter. Ref.9 Ref.13 Ref.20		VAR_004738
	Natural variant	269	1	Missing in XL-AHC; impairs transcriptional silencing of the StAR promoter.		VAR_004739
	Natural variant	278	1	L → P in XL-AHC. Ref.17		VAR_031079
	Natural variant	287	1	V → G in XL-AHC; the patient presents an inappropriate tall stature and renal ectopy. Ref.25		VAR_004740
	Natural variant	291	1	W → C in XL-AHC. Ref.11 Corresponds to variant rs28935482 [ dbSNP | Ensembl ].		VAR_031080
	Natural variant	295	1	L → P in XL-AHC. Ref.21		VAR_018303
	Natural variant	297	1	L → P in XL-AHC; results in a severe loss of repressor activity. Ref.24		VAR_031081
	Natural variant	300	1	A → P in XL-AHC. Ref.22		VAR_018304
	Natural variant	300	1	A → V in XL-AHC. Ref.12		VAR_004741
	Natural variant	377	1	E → K in XL-AHC. Ref.14 Ref.22		VAR_004742
	Natural variant	380	1	Y → D in XL-AHC. Ref.23		VAR_018300
	Natural variant	381	1	L → H in XL-AHC. Ref.19		VAR_018301
	Natural variant	382	1	K → N in XL-AHC. Ref.11 Corresponds to variant rs28935180 [ dbSNP | Ensembl ].		VAR_004743
	Natural variant	385	1	V → G in XL-AHC. Ref.14		VAR_004744
	Natural variant	425	1	R → G in XL-AHC. Ref.14		VAR_004745
	Natural variant	425	1	R → T in XL-AHC. Ref.21		VAR_018305
	Natural variant	439	1	I → S in XL-AHC; mild phenotype. Ref.18		VAR_018302
	Natural variant	440	1	N → I in XL-AHC; impairs RNA-binding activity. Ref.10 Ref.20 Corresponds to variant rs28935481 [ dbSNP | Ensembl ].		VAR_004746
	Natural variant	466	1	L → R in XL-AHC. Ref.16		VAR_018306
Experimental info
	Mutagenesis	16 – 17	2	ML → AA: Strongly reduces homodimerization and interaction with NR0B2. Ref.8
	Mutagenesis	83 – 84	2	ML → AA: Strongly reduces homodimerization and interaction with NR0B2. Ref.8
	Mutagenesis	149 – 150	2	LL → AA: Strongly reduces homodimerization and interaction with NR0B2. Ref.8
	Mutagenesis	461 – 462	2	MM → AA: Strongly reduces homodimerization and interaction with NR0B2. Ref.8
	Sequence conflict	4	1	E → Q in AAC13875. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 10, 2002. Version 2. Checksum: 214E237097DF9786	FASTA	470	51,718
	10 20 30 40 50 60 MAGENHQWQG SILYNMLMSA KQTRAAPEAP ETRLVDQCWG CSCGDEPGVG REGLLGGRNV 70 80 90 100 110 120 ALLYRCCFCG KDHPRQGSIL YSMLTSAKQT YAAPKAPEAT LGPCWGCSCG SDPGVGRAGL 130 140 150 160 170 180 PGGRPVALLY RCCFCGEDHP RQGSILYSLL TSSKQTHVAP AAPEARPGGA WWDRSYFAQR 190 200 210 220 230 240 PGGKEALPGG RATALLYRCC FCGEDHPQQG STLYCVPTST NQAQAAPEER PRAPWWDTSS 250 260 270 280 290 300 GALRPVALKS PQVVCEAASA GLLKTLRFVK YLPCFQVLPL DQQLVLVRNC WASLLMLELA 310 320 330 340 350 360 QDRLQFETVE VSEPSMLQKI LTTRRRETGG NEPLPVPTLQ HHLAPPAEAR KVPSASQVQA 370 380 390 400 410 420 IKCFLSKCWS LNISTKEYAY LKGTVLFNPD VPGLQCVKYI QGLQWGTQQI LSEHTRMTHQ 430 440 450 460 470 GPHDRFIELN STLFLLRFIN ANVIAELFFR PIIGTVSMDD MMLEMLCTKI
	Isoform 2 (NR0B1A) [UniParc]. Checksum: 368BB8D21A210658	FASTA	400	43,590
	10 20 30 40 50 60 MAGENHQWQG SILYNMLMSA KQTRAAPEAP ETRLVDQCWG CSCGDEPGVG REGLLGGRNV 70 80 90 100 110 120 ALLYRCCFCG KDHPRQGSIL YSMLTSAKQT YAAPKAPEAT LGPCWGCSCG SDPGVGRAGL 130 140 150 160 170 180 PGGRPVALLY RCCFCGEDHP RQGSILYSLL TSSKQTHVAP AAPEARPGGA WWDRSYFAQR 190 200 210 220 230 240 PGGKEALPGG RATALLYRCC FCGEDHPQQG STLYCVPTST NQAQAAPEER PRAPWWDTSS 250 260 270 280 290 300 GALRPVALKS PQVVCEAASA GLLKTLRFVK YLPCFQVLPL DQQLVLVRNC WASLLMLELA 310 320 330 340 350 360 QDRLQFETVE VSEPSMLQKI LTTRRRETGG NEPLPVPTLQ HHLAPPAEAR KVPSASQVQA 370 380 390 400 IKCFLSKCWS LNISTKEYAY LKGTVLFNPG KGKENDCNHH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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. Nature 372:635-641(1994) [PubMed: 7990953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"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: 8675564] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lung.
[4]	"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: 10713076] [Abstract] Cited for: INTERACTION WITH COPS2.
[5]	"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: 12482977] [Abstract] Cited for: INTERACTION WITH NR5A1 AND NR5A2.
[6]	"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: 15589120] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 2).
[7]	"DAX1 origin, function, and novel role." Niakan K.K., McCabe E.R.B. Mol. Genet. Metab. 86:70-83(2005) [PubMed: 16146703] [Abstract] Cited for: REVIEW.
[8]	"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: 16709599] [Abstract] 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.
[9]	"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. Nature 372:672-676(1994) [PubMed: 7990958] [Abstract] Cited for: VARIANTS XL-AHC PRO-267 AND VAL-269 DEL.
[10]	"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: 9003500] [Abstract] Cited for: VARIANT XL-AHC ILE-440.
[11]	"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: 9360549] [Abstract] Cited for: VARIANTS XL-AHC CYS-291 AND ASN-382.
[12]	"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: 9063431] [Abstract] Cited for: VARIANT XL-AHC VAL-300.
[13]	"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: 9415399] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS XL-AHC PRO-267 AND VAL-269 DEL.
[14]	"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. , Pappas J.G., Quigley C.A., Rosenthal I.M., Baxter J.D., Fletterick R.J., McCabe E.R.B. Am. J. Hum. Genet. 62:855-864(1998) [PubMed: 9529340] [Abstract] Cited for: VARIANTS XL-AHC LYS-377; GLY-385 AND GLY-425.
[15]	"Dax1 antagonizes Sry action in mammalian sex determination." Swain A., Narvaez V., Burgoyne P., Camerino G., Lovell-Badge R. Nature 391:761-767(1998) [PubMed: 9486644] [Abstract] Cited for: INVOLVEMENT IN SRXY2.
[16]	"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: 10323730] [Abstract] Cited for: VARIANT XL-AHC ARG-466.
[17]	"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: 10341858] [Abstract] Cited for: VARIANT XL-AHC PRO-278.
[18]	"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: 10675358] [Abstract] Cited for: VARIANT XL-AHC SER-439.
[19]	"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: 11113848] [Abstract] Cited for: VARIANT XL-AHC HIS-381.
[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: 10848616] [Abstract] 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: 11748852] [Abstract] 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: 11443184] [Abstract] 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: 11788621] [Abstract] 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: 12629128] [Abstract] 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. A 135:72-74(2005) [PubMed: 15800903] [Abstract] Cited for: VARIANT XL-AHC GLY-287.
[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)
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	S74720 mRNA. Translation: AAB32751.1. U31929 Genomic DNA. Translation: AAC13875.1. BC011564 mRNA. Translation: AAH11564.1.
IPI	IPI00020943. IPI00646717.
PIR	S50854.
RefSeq	NP_000466.2. NM_000475.4.
UniGene	Hs.268490.
3D structure databases
ProteinModelPortal	P51843.
SMR	P51843. Positions 249-470.
ModBase	Search...
Protein-protein interaction databases
IntAct	P51843. 1 interaction.
MINT	MINT-2855705.
STRING	P51843.
Polymorphism databases
DMDM	20532385.
Proteomic databases
PRIDE	P51843.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000378970; ENSP00000368253; ENSG00000169297.
GeneID	190.
KEGG	hsa:190.
UCSC	uc004dcf.2. human.
Organism-specific databases
CTD	190.
GeneCards	GC0XM030322.
H-InvDB	HIX0016715.
HGNC	HGNC:7960. NR0B1.
MIM	300018. phenotype. 300200. phenotype. 300473. gene.
neXtProt	NX_P51843.
Orphanet	242. 46,XY complete gonadal dysgenesis. 95702. Cytomegalic congenital adrenal hypoplasia.
PharmGKB	PA31746.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06700.
GeneTree	ENSGT00390000015719.
HOGENOM	HBG127521.
HOVERGEN	HBG005453.
InParanoid	P51843.
OMA	CCFCGED.
OrthoDB	EOG48D0V9.
PhylomeDB	P51843.
Enzyme and pathway databases
Pathway_Interaction_DB	ar_tf_pathway. Regulation of Androgen receptor activity.
Reactome	REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P51843.
Bgee	P51843.
CleanEx	HS_NR0B1.
Genevestigator	P51843.
GermOnline	ENSG00000169297. Homo sapiens.
Family and domain databases
InterPro	IPR008946. Nucl_hormone_rcpt_ligand-bd. IPR000536. Nucl_hrmn_rcpt_lig-bd_core. IPR001723. Str_hrmn_rcpt. [Graphical view]
Gene3D	G3DSA:1.10.565.10. Nucl_hrmn_rcpt_lig_bd. 1 hit.
KO	K08562.
Pfam	PF00104. Hormone_recep. 1 hit. [Graphical view]
PRINTS	PR00398. STRDHORMONER.
SMART	SM00430. HOLI. 1 hit. [Graphical view]
SUPFAM	SSF48508. Str_ncl_receptor. 1 hit.
ProtoNet	Search...
Other
DrugBank	DB01234. Dexamethasone. DB00755. Tretinoin.
NextBio	776.
SOURCE	Search...

Entry information

Entry name

NR0B1_HUMAN

Accession

Primary (citable) accession number: P51843
Secondary accession number(s): Q96F69

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	May 10, 2002
Last modified:	January 25, 2012
This is version 126 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.