NR0B1 (nuclear receptor subfamily 0 group B member 1)

Gene

• Entrez ID: 190
• Gene name: Nuclear receptor subfamily 0 group B member 1
• Gene symbol: NR0B1
• Synonyms: AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
• Chromosome: X
• Chromosome location: Xp21.2
• Summary: This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antago

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935481	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs28935482	C>G	Pathogenic	Coding sequence variant, missense variant
rs104894886	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894887	A>T	Pathogenic	Coding sequence variant, stop gained
rs104894888	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs104894889	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894890	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894891	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894892	G>T	Pathogenic	Coding sequence variant, stop gained
rs104894894	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894895	G>C	Pathogenic	Coding sequence variant, stop gained
rs104894896	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894897	A>C	Pathogenic	Coding sequence variant, missense variant
rs104894898	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs104894899	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894900	A>C	Pathogenic	Coding sequence variant, missense variant
rs104894906	G>T	Pathogenic	Coding sequence variant, stop gained
rs104894907	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894908	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs132630327	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs193205940	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs386134262	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386134263	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs387907373	C>A	Pathogenic	Missense variant, coding sequence variant
rs753734546	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs767828388	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs886041215	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517778	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499835	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793475	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307677	ACAGGAGTGCCACGGGCCGCCCACCCGGAAGCCCCGCTCTG>GTAAGTGGCTTTC,TTCT	Pathogenic	Frameshift variant, coding sequence variant
rs1131691564	C>T	Pathogenic	Coding sequence variant, stop gained
rs1311271225	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1324519932	C>A,G	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1489209061	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1555972632	GTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCC	Pathogenic	Intron variant, terminator codon variant, 3 prime UTR variant, splice acceptor variant
rs1555972640	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555972641	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555972655	CT>-	Pathogenic	Stop gained, coding sequence variant
rs1555972666	C>T	Pathogenic	Splice acceptor variant
rs1555972943	TAAGGCCAGTACCCTTACCC>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1555972957	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555972994	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973010	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973021	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555973031	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973045	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555973058	G>T	Pathogenic	Missense variant, coding sequence variant
rs1555973063	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555973091	CGTGGGCACGCAGTAGA>GATG	Pathogenic	Frameshift variant, coding sequence variant
rs1555973092	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555973115	TT>-,T	Pathogenic	Frameshift variant, coding sequence variant
rs1555973117	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1555973119	->TGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1555973120	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555973131	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555973132	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555973147	GTTTG>CGGAGCTCA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1555973172	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555973189	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569268048	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569268070	GAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569268878	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569268919	TTACCCCCTGGCCTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569268976	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569269179	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569269195	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601792367	ACCAGC>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437448	hsa-miR-561-3p	Luciferase reporter assay	24104199

Transcription factors

Transcription factor	Regulation	Reference
ESRRG	Activation	16314306
EWSR1	Unknown	18591936
NR5A1	Activation	11990799
NR5A1	Unknown	7677767
SF1	Unknown	11923472;9232190

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000785	Component	Chromatin	ISA
GO:0003714	Function	Transcription corepressor activity	IBA	21873635
GO:0003714	Function	Transcription corepressor activity	IMP	19651776
GO:0003723	Function	RNA binding	IDA	10848616
GO:0005515	Function	Protein binding	IPI	12771131, 16709599, 16713569, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	7990953, 10848616, 16709599, 19651776
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	16709599
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0007283	Process	Spermatogenesis	IBA	21873635
GO:0008104	Process	Protein localization	IDA	11875111
GO:0008134	Function	Transcription factor binding	IBA	21873635
GO:0008134	Function	Transcription factor binding	IPI	19651776
GO:0008406	Process	Gonad development	IMP	7990953
GO:0008584	Process	Male gonad development	IBA	21873635
GO:0008584	Process	Male gonad development	IMP	7990958
GO:0010894	Process	Negative regulation of steroid biosynthetic process	IDA	9384387
GO:0016020	Component	Membrane	IDA	10848616
GO:0016607	Component	Nuclear speck	IDA
GO:0019904	Function	Protein domain specific binding	IPI	15100213
GO:0021854	Process	Hypothalamus development	NAS	15464421
GO:0021983	Process	Pituitary gland development	NAS	15464421
GO:0030238	Process	Male sex determination	IEA
GO:0030325	Process	Adrenal gland development	IBA	21873635
GO:0030325	Process	Adrenal gland development	IMP	7990953
GO:0032448	Function	DNA hairpin binding	IDA	9384387
GO:0033144	Process	Negative regulation of intracellular steroid hormone receptor signaling pathway	IDA	11875111
GO:0033327	Process	Leydig cell differentiation	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035258	Function	Steroid hormone receptor binding	IPI	11875111
GO:0035902	Process	Response to immobilization stress	IEA
GO:0042788	Component	Polysomal ribosome	IDA	10848616
GO:0042803	Function	Protein homodimerization activity	IPI	16709599
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IBA	21873635
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IMP	19651776
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	7990953, 9384387
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	19651776
GO:0060008	Process	Sertoli cell differentiation	IEA

Other IDs

• MIM: 300473
• HGNC: 7960
• e!Ensembl: ENSG00000169297

Protein

• UniProt ID: P51843
• Protein name: Nuclear receptor subfamily 0 group B member 1 (DSS-AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX-1)
• Protein function: Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, PubMed:32433991). Component of a cascade requir
• PDB: 4RWV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14046	NR_Repeat	1 → 49	Nuclear receptor repeat	Family
  PF14046	NR_Repeat	68 → 115	Nuclear receptor repeat	Family
  PF14046	NR_Repeat	134 → 181	Nuclear receptor repeat	Family
  PF14046	NR_Repeat	201 → 246	Nuclear receptor repeat	Family
  PF00104	Hormone_recep	249 → 453	Ligand-binding domain of nuclear hormone receptor	Domain

• Sequence:

  MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNV
  ALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGL
  PGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQR
  PGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSS
  GALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELA
  QDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQA
  IKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ
  GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI

• Sequence length: 470

Pathways

KEGG:

Cortisol synthesis and secretion

Reactome:

Nuclear Receptor transcription pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
46, xx gonadal sex reversal	46,XX testicular disorder of sex development, 46, XX Testicular Disorders of Sex Development	rs104894119	28483799
46, xy partial gonadal dysgenesis	46,XY partial gonadal dysgenesis	rs193922688	18384427
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Congenital adrenal hypoplasia, x-linked	X-linked adrenal hypoplasia congenita	rs104894890, rs104894886, rs104894887, rs104894888, rs104894889, rs104894891, rs104894892, rs28935481, rs104894894, rs104894895, rs104894896, rs28935482, rs1569268070, rs104894898, rs104894897, rs1569268976, rs104894899, rs104894900, rs104894906, rs104894908, rs386134262, rs386134263, rs387907373, rs1569269179, rs1060499835, rs1131691564, rs1555972632, rs1555972655, rs1555972666, rs1489209061, rs1555973021, rs1555973031, rs753734546, rs1555973058, rs1311271225, rs1555973091, rs1555973092, rs1555973115, rs1555973117, rs1555973119, rs1555973120, rs1555973132, rs1555973172, rs132630327, rs1555973131, rs1555972640, rs1555972641, rs1555972943, rs1555972957, rs1555972994, rs1555973045, rs1555973063, rs1555973189, rs1569268048, rs1324519932, rs1601792367
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139	7990958
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Oligospermia	Oligospermia	rs1602125411, rs2047796277, rs377712900	23384712
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505

Unknown
Disease name	Disease term	dbSNP ID	References
46, xy complete gonadal dysgenesis	46,XY complete gonadal dysgenesis
Adrenal hypoplasia, x-linked	X-linked Adrenal Hypoplasia		9529340, 15800903, 11443184, 10323730, 11748852, 19309798, 7990958, 10675358, 9063431, 10341858, 12519885, 9415399, 10210708, 10848616, 11113848, 11788621, 9003500, 12629128, 9360549
Ambiguous genitalia	Ambiguous Genitalia	rs782562963
Complex glycerol kinase deficiency	Complex Glycerol Kinase Deficiency		7990958, 12519885
Congenital adrenal hypoplasia	Congenital hypoplasia of adrenal gland		19309798
Gonadal dysgenesis	Gonadal Dysgenesis
Gynecomastia	Gynecomastia
Hypertrophy of clitoris	Hypertrophy of clitoris
Hypoadrenocorticism	Hypoadrenocorticism, familial		12519885, 7990958
Hypogonadism	Hypogonadism, Primary hypogonadism, Hypogonadism, Isolated Hypogonadotropic		7990958
Hypoplasia of vagina	Hypoplasia of vagina
Hypospadias	Hypospadias
Male pseudohermaphroditism	Male Pseudohermaphroditism
Ovarian gonadoblastoma	Ovarian gonadoblastoma
Penis agenesis	Penis agenesis
Physiologic amenorrhea	Primary physiologic amenorrhea
Polycystic ovary syndrome	Polycystic Ovary Syndrome
Streak ovary	Streak ovary
Testicular dysgenesis	Testicular dysgenesis
Testicular gonadoblastoma	Testicular gonadoblastoma
Testicular hypogonadism	Testicular hypogonadism
Testicular regression syndrome	Testicular regression syndrome
Xp21 contiguous gene deletion syndrome	Xp21 Contiguous Gene Deletion Syndrome		7990958, 12519885
Xx males	XX males		28483799