InnateDB Protein
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IDBP-53732.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NR0B1
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Protein Name
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nuclear receptor subfamily 0, group B, member 1
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Synonyms
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AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NROB1; SRXY2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000368253
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InnateDB Gene
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IDBG-53730 (NR0B1)
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Protein Structure
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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). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:16709599}. Cytoplasm {ECO:0000269PubMed:16709599}. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.
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Disease Associations |
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. {ECO:0000269PubMed:10323730, ECO:0000269PubMed:10341858, ECO:0000269PubMed:10675358, ECO:0000269PubMed:11113848, ECO:0000269PubMed:11443184, ECO:0000269PubMed:11748852, ECO:0000269PubMed:11788621, ECO:0000269PubMed:12629128, ECO:0000269PubMed:15800903, ECO:0000269PubMed:7990958, ECO:0000269PubMed:9003500, ECO:0000269PubMed:9063431, ECO:0000269PubMed:9360549, ECO:0000269PubMed:9529340}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:9486644}. 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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 25 interaction(s) predicted by orthology.
Experimentally validated |
Total |
21
[view]
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Protein-Protein |
21
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
25 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000536
Nuclear hormone receptor, ligand-binding, core
IPR001723
Steroid hormone receptor
IPR008946
Nuclear hormone receptor, ligand-binding
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PFAM |
PF00104
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PRINTS |
PR00398
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PIRSF |
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SMART |
SM00430
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TIGRFAMs |
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Modification |
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SwissProt |
P51843
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PhosphoSite |
PhosphoSite-P51843
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TrEMBL |
F1D8P4
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UniProt Splice Variant |
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Entrez Gene |
190
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UniGene |
Hs.268490
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RefSeq |
NP_000466
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HUGO |
HGNC:7960
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OMIM |
300473
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CCDS |
CCDS14223
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HPRD |
08362
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IMGT |
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EMBL |
BC011564
CH471074
HQ692832
S74720
U31929
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GenPept |
AAB32751
AAC13875
AAH11564
ADZ17343
EAW99051
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