Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P51843 (NR0B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 152. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length470 AA.
Sequence statusComplete.
Protein existenceEvidence 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

X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. 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

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.
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. Ref.15

Sequence similarities

Belongs to the nuclear hormone receptor family. NR0 subfamily.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainRepeat
   Molecular functionReceptor
Repressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processLeydig cell differentiation

Inferred from electronic annotation. Source: Ensembl

Sertoli cell differentiation

Inferred from electronic annotation. Source: Ensembl

adrenal gland development

Inferred from mutant phenotype Ref.1. Source: HGNC

gene expression

Traceable author statement. Source: Reactome

gonad development

Inferred from mutant phenotype Ref.1. Source: HGNC

hypothalamus development

Non-traceable author statement PubMed 15464421. Source: UniProtKB

intracellular receptor signaling pathway

Inferred from direct assay Ref.1. Source: GOC

male gonad development

Inferred from mutant phenotype Ref.9. Source: UniProtKB

male sex determination

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of intracellular steroid hormone receptor signaling pathway

Inferred from direct assay PubMed 11875111. Source: UniProtKB

negative regulation of sequence-specific DNA binding transcription factor activity

Inferred from mutant phenotype PubMed 19651776. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from direct assay Ref.1PubMed 9384387. Source: HGNC

pituitary gland development

Non-traceable author statement PubMed 15464421. Source: UniProtKB

protein localization

Inferred from direct assay PubMed 11875111. Source: UniProtKB

response to immobilization stress

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Inferred from electronic annotation. Source: Ensembl

steroid biosynthetic process

Inferred from direct assay PubMed 9384387. Source: HGNC

transcription initiation from RNA polymerase II promoter

Traceable author statement. Source: Reactome

   Cellular_componentcytoplasm

Inferred from direct assay Ref.8PubMed 17686645PubMed 17686645. Source: UniProtKB

membrane

Inferred from direct assay Ref.20. Source: BHF-UCL

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay Ref.8PubMed 17686645PubMed 17686645. Source: UniProtKB

polysomal ribosome

Inferred from direct assay Ref.20. Source: HGNC

   Molecular_functionAF-2 domain binding

Inferred from physical interaction PubMed 17686645. Source: UniProtKB

DNA binding

Inferred from direct assay Ref.1. Source: HGNC

DNA hairpin binding

Inferred from direct assay PubMed 9384387. Source: HGNC

RNA binding

Inferred from direct assay Ref.20. Source: HGNC

ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity

Non-traceable author statement PubMed 9384387. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 12771131Ref.8PubMed 17686645. Source: UniProtKB

protein domain specific binding

Inferred from physical interaction PubMed 15100213PubMed 17686645. Source: UniProtKB

protein homodimerization activity

Inferred from physical interaction Ref.8. Source: UniProtKB

sequence-specific DNA binding

Inferred from direct assay PubMed 9384387. Source: HGNC

steroid hormone receptor activity

Inferred from electronic annotation. Source: InterPro

steroid hormone receptor binding

Inferred from physical interaction PubMed 11875111. Source: UniProtKB

transcription corepressor activity

Inferred from mutant phenotype PubMed 19651776. Source: BHF-UCL

transcription factor binding

Inferred from physical interaction PubMed 19651776. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

RORAP353982EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 470470Nuclear receptor subfamily 0 group B member 1
PRO_0000053748

Regions

Repeat1 – 67671
Repeat68 – 133662
Repeat134 – 200673
Repeat201 – 253534; truncated
Region1 – 2532534 X 67 AA tandem repeats
Region254 – 470217Ligand-binding By similarity
Motif13 – 175LXXLL motif 1
Motif80 – 845LXXLL motif 2
Motif146 – 1505LXXLL motif 3
Motif461 – 4666AF-2 motif

Natural variations

Alternative sequence390 – 40011DVPGLQCVKYI → GKGKENDCNHH in isoform 2.
VSP_023557
Alternative sequence401 – 47070Missing in isoform 2.
VSP_023558
Natural variant2671R → P in XL-AHC; impairs transcriptional silencing of the StAR promoter. Ref.9 Ref.13 Ref.20
VAR_004738
Natural variant2691Missing in XL-AHC; impairs transcriptional silencing of the StAR promoter. Ref.9 Ref.13 Ref.20
VAR_004739
Natural variant2781L → P in XL-AHC. Ref.17
VAR_031079
Natural variant2871V → G in XL-AHC; the patient presents an inappropriate tall stature and renal ectopy. Ref.25
VAR_004740
Natural variant2911W → C in XL-AHC. Ref.11
Corresponds to variant rs28935482 [ dbSNP | Ensembl ].
VAR_031080
Natural variant2951L → P in XL-AHC. Ref.21
VAR_018303
Natural variant2971L → P in XL-AHC; results in a severe loss of repressor activity. Ref.24
VAR_031081
Natural variant3001A → P in XL-AHC. Ref.22
VAR_018304
Natural variant3001A → V in XL-AHC. Ref.12
VAR_004741
Natural variant3771E → K in XL-AHC. Ref.14 Ref.22
VAR_004742
Natural variant3801Y → D in XL-AHC. Ref.23
VAR_018300
Natural variant3811L → H in XL-AHC. Ref.19
VAR_018301
Natural variant3821K → N in XL-AHC. Ref.11
Corresponds to variant rs28935180 [ dbSNP | Ensembl ].
VAR_004743
Natural variant3851V → G in XL-AHC. Ref.14
VAR_004744
Natural variant4251R → G in XL-AHC. Ref.14
VAR_004745
Natural variant4251R → T in XL-AHC. Ref.21
VAR_018305
Natural variant4391I → S in XL-AHC; mild phenotype. Ref.18
VAR_018302
Natural variant4401N → I in XL-AHC; impairs RNA-binding activity. Ref.10 Ref.20
Corresponds to variant rs28935481 [ dbSNP | Ensembl ].
VAR_004746
Natural variant4661L → R in XL-AHC. Ref.16
VAR_018306

Experimental info

Mutagenesis16 – 172ML → AA: Strongly reduces homodimerization and interaction with NR0B2. Ref.8
Mutagenesis83 – 842ML → AA: Strongly reduces homodimerization and interaction with NR0B2. Ref.8
Mutagenesis149 – 1502LL → AA: Strongly reduces homodimerization and interaction with NR0B2. Ref.8
Mutagenesis461 – 4622MM → AA: Strongly reduces homodimerization and interaction with NR0B2. Ref.8
Sequence conflict41E → Q in AAC13875. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 10, 2002. Version 2.
Checksum: 214E237097DF9786

FASTA47051,718
        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 

« Hide

Isoform 2 (NR0B1A) [UniParc].

Checksum: 368BB8D21A210658
Show »

FASTA40043,590

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S74720 mRNA. Translation: AAB32751.1.
U31929 Genomic DNA. Translation: AAC13875.1.
BC011564 mRNA. Translation: AAH11564.1.
CCDSCCDS14223.1. [P51843-1]
PIRS50854.
RefSeqNP_000466.2. NM_000475.4. [P51843-1]
UniGeneHs.268490.

3D structure databases

ProteinModelPortalP51843.
SMRP51843. Positions 207-470.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106695. 15 interactions.
IntActP51843. 1 interaction.
MINTMINT-2855705.
STRING9606.ENSP00000368253.

Chemistry

ChEMBLCHEMBL1795094.
DrugBankDB01234. Dexamethasone.
DB00755. Tretinoin.

PTM databases

PhosphoSiteP51843.

Polymorphism databases

DMDM20532385.

Proteomic databases

MaxQBP51843.
PaxDbP51843.
PRIDEP51843.

Protocols and materials databases

DNASU190.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378970; ENSP00000368253; ENSG00000169297. [P51843-1]
ENST00000453287; ENSP00000396403; ENSG00000169297. [P51843-2]
GeneID190.
KEGGhsa:190.
UCSCuc004dcf.4. human. [P51843-1]

Organism-specific databases

CTD190.
GeneCardsGC0XM030322.
GeneReviewsNR0B1.
HGNCHGNC:7960. NR0B1.
MIM300018. phenotype.
300200. phenotype.
300473. gene.
neXtProtNX_P51843.
Orphanet242. 46,XY complete gonadal dysgenesis.
251510. 46,XY partial gonadal dysgenesis.
95702. Cytomegalic congenital adrenal hypoplasia.
PharmGKBPA31746.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG238310.
HOGENOMHOG000231151.
HOVERGENHBG005453.
InParanoidP51843.
KOK08562.
OMACCFCGED.
OrthoDBEOG7NSB35.
PhylomeDBP51843.
TreeFamTF332386.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.
SignaLinkP51843.

Gene expression databases

ArrayExpressP51843.
BgeeP51843.
CleanExHS_NR0B1.
GenevestigatorP51843.

Family and domain databases

Gene3D1.10.565.10. 1 hit.
InterProIPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR025900. Nuclear_receptor_repeat.
IPR001723. Str_hrmn_rcpt.
[Graphical view]
PfamPF00104. Hormone_recep. 1 hit.
PF14046. NR_Repeat. 4 hits.
[Graphical view]
PRINTSPR00398. STRDHORMONER.
SMARTSM00430. HOLI. 1 hit.
[Graphical view]
SUPFAMSSF48508. SSF48508. 1 hit.
ProtoNetSearch...

Other

GeneWikiDAX1.
GenomeRNAi190.
NextBio776.
PROP51843.
SOURCESearch...

Entry information

Entry nameNR0B1_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 152 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM