NR0B1
entrez
190
canonical
uniprot
P51843
canonical
ensembl
ENSG00000169297
resolver
ensp
ENSP00000368253
resolver
genesymbol
NR0B1
resolver
genesymbol_syn
AHC
resolver
genesymbol_syn
DAX1
resolver
hgnc
HGNC:7960
resolver
uniprot
F1D8P4
resolver
uniprot
Q96F69
resolver
uniprot_entry
F1D8P4_HUMAN
resolver
uniprot_entry
NR0B1_HUMAN
resolver
uniprot_sec
Q96F69
resolver
amino_acid_sequence
MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELAQDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI
uniprot
proteins
disease_involvement
DISEASE: Adrenal hypoplasia, congenital (AHC) [MIM:300200]: A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern. {ECO:0000269|PubMed:10323730, ECO:0000269|PubMed:10341858, ECO:0000269|PubMed:10675358, ECO:0000269|PubMed:10848616, ECO:0000269|PubMed:11113848, ECO:0000269|PubMed:11443184, ECO:0000269|PubMed:11748852, ECO:0000269|PubMed:11788621, ECO:0000269|PubMed:12629128, ECO:0000269|PubMed:15800903, ECO:0000269|PubMed:7990958, ECO:0000269|PubMed:9003500, ECO:0000269|PubMed:9063431, ECO:0000269|PubMed:9360549, ECO:0000269|PubMed:9415399, ECO:0000269|PubMed:9529340}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:9486644}. Note=The disease is caused by variants 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.
uniprot
proteins
function
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 required for the development of the hypothalamic-pituitary-adrenal-gonadal axis (PubMed:7990953, PubMed:8675564). May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity). {ECO:0000250|UniProtKB:Q61066, ECO:0000269|PubMed:12482977, ECO:0000269|PubMed:32433991, ECO:0000269|PubMed:7990953, ECO:0000269|PubMed:8675564}.
uniprot
proteins
mass_dalton
51718
uniprot
proteins
mutagenesis
MUTAGEN 16..17; /note="ML->AA: Strongly reduces homodimerization and interaction with NR0B2."; /evidence="ECO:0000269|PubMed:16709599"; MUTAGEN 83..84; /note="ML->AA: Strongly reduces homodimerization and interaction with NR0B2."; /evidence="ECO:0000269|PubMed:16709599"; MUTAGEN 149..150; /note="LL->AA: Strongly reduces homodimerization and interaction with NR0B2."; /evidence="ECO:0000269|PubMed:16709599"; MUTAGEN 461..462; /note="MM->AA: Strongly reduces homodimerization and interaction with NR0B2."; /evidence="ECO:0000269|PubMed:16709599
uniprot
proteins
protein_family
NR0 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10323730
uniprot
proteins
pubmed
10341858
uniprot
proteins
pubmed
10675358
uniprot
proteins
pubmed
10713076
uniprot
proteins
pubmed
10848616
uniprot
proteins
pubmed
11113848
uniprot
proteins
pubmed
11443184
uniprot
proteins
pubmed
11748852
uniprot
proteins
pubmed
11788621
uniprot
proteins
pubmed
12482977
uniprot
proteins
pubmed
12629128
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15589120
uniprot
proteins
pubmed
15800903
uniprot
proteins
pubmed
16146703
uniprot
proteins
pubmed
16709599
uniprot
proteins
pubmed
26416531
uniprot
proteins
pubmed
32433991
uniprot
proteins
pubmed
7990953
uniprot
proteins
pubmed
7990958
uniprot
proteins
pubmed
8675564
uniprot
proteins
pubmed
9003500
uniprot
proteins
pubmed
9063431
uniprot
proteins
pubmed
9360549
uniprot
proteins
pubmed
9415399
uniprot
proteins
pubmed
9486644
uniprot
proteins
pubmed
9529340
uniprot
proteins
sequence_length
470
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16709599}. Cytoplasm {ECO:0000269|PubMed:16709599}. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus. {ECO:0000269|PubMed:16709599}.
uniprot
proteins