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P51843 Proteins with OtherRepeats Repeats

Uniprot ID: P51843	Protein name : Nuclear receptor subfamily 0 group B member 1	Gene : NR0B1 AHC DAX1
Protein Families : "Nuclear hormone receptor family, NR0 subfamily"	Squence Length : 470

Sequence	>P51843 471 MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELAQDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI
Repeat regions	REPEAT 1 67 1 REPEAT 68 133 2 REPEAT 134 200 3 REPEAT 201 253 4
Sequence region of repeats	1- 67 GENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFC 68- 133 GKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFC 134- 200 GEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFC 201- 253 GEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSSGALRPVALKSPQVVC - A
Domains	DOMAIN 205 469 NR LBD
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)
Motifs	MOTIF 13 17 LXXLL motif 1. MOTIF 80 84 LXXLL motif 2. MOTIF 146 150 LXXLL motif 3. MOTIF 461 466 AF-2 motif
Mutation	16 17 ML->AA: Strongly reduces homodimerization and interaction with NR0B2 83 84 ML->AA: Strongly reduces homodimerization and interaction with NR0B2 149 150 LL->AA: Strongly reduces homodimerization and interaction with NR0B2 461 462 MM->AA: Strongly reduces homodimerization and interaction with NR0B2
Disease	"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 Note=The disease is caused by mutations 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 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"