UniProt:P51843-2 NR0B1

chain
  • chain:1-470
checksum 214E237097DF9786
comment
  • 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 Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2. Interacts with ESRRB; represses ESRRB activity at the GATA6 promoter (By similarity).INTERACTION Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.ALTERNATIVE PRODUCTS 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE 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.MISCELLANEOUS More abundant than isoform 1 in all tissues tested except testis where they are nearly equal.SIMILARITY Belongs to the nuclear hormone receptor family. NR0 subfamily.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 240044
description
  • recommendedName: Nuclear receptor subfamily 0 group B member 1 alternativeName: DSS-AHC critical region on the X chromosome protein 1 alternativeName: Nuclear receptor DAX-1
displayName UniProt:P51843-2 NR0B1
geneName
  • NR0B1
  • AHC
  • DAX1
identifier P51843
isSequenceChanged false
isoformParent
keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Nucleus
  • Receptor
  • Reference proteome
  • Repeat
  • Repressor
  • Transcription
  • Transcription regulation
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • NR0B1
otherIdentifier
  • 11730507_at
  • 11730508_s_at
  • 17109885
  • 190
  • 206644_PM_at
  • 206644_at
  • 206645_PM_s_at
  • 206645_s_at
  • 39970_at
  • 4003858
  • 4003859
  • 4003860
  • 4003866
  • 8171892
  • A_23_P73632
  • GE62829
  • GO:0000122
  • GO:0000785
  • GO:0003677
  • GO:0003714
  • GO:0003723
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0005694
  • GO:0005737
  • GO:0005815
  • GO:0005840
  • GO:0005856
  • GO:0006351
  • GO:0006355
  • GO:0006629
  • GO:0007283
  • GO:0007530
  • GO:0008104
  • GO:0008406
  • GO:0008584
  • GO:0010894
  • GO:0016020
  • GO:0016607
  • GO:0016922
  • GO:0019904
  • GO:0021854
  • GO:0021983
  • GO:0022414
  • GO:0023052
  • GO:0030154
  • GO:0030238
  • GO:0030325
  • GO:0032448
  • GO:0033144
  • GO:0033327
  • GO:0034451
  • GO:0035902
  • GO:0035987
  • GO:0042788
  • GO:0042803
  • GO:0043226
  • GO:0043231
  • GO:0043433
  • GO:0045892
  • GO:0048856
  • GO:0060008
  • GO:0061629
  • GO:0140110
  • HMNXSV003011356
  • ILMN_1800160
  • S74720_at
  • TC0X000938.hg
  • TC0X002022.hg
  • U31929_s_at
  • g5016089_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceIsoform
secondaryIdentifier
  • NR0B1_HUMAN
  • Q96F69
sequenceLength 470
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/P51843-2
variantIdentifier P51843-2
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