KEGG   Homo sapiens (human): 190Help
Entry
190               CDS       T01001                                 

Gene name
NR0B1, AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
Definition
(RefSeq) nuclear receptor subfamily 0 group B member 1
  KO
K08562  nuclear receptor subfamily 0 group B member 1
Organism
hsa  Homo sapiens (human)
Network
N00306  SF-1-mediated transcription
N00307  Mutation-inactivated DAX1 to SF-1-mediated transcription
N00308  Mutation-inactivated SF-1 to transcription
Disease
H00552  Chromosome Xp21 deletion syndrome
H00607  46,XY disorders of sex development (Disorders of gonadal development)
H01598  Addison's disease
H01700  Hypopituitarism
H01772  Adrenal hypoplasia congenita
Brite
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Zinc finger
   Cys4 Knirps/DAX 1-like
    190 (NR0B1)
Nuclear receptors [BR:hsa03310]
 0. Knirps / DAX like
  0B. DAX like receptor
   190 (NR0B1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: NR_Repeat Hormone_recep
Motif
Other DBs
NCBI-GeneID: 190
NCBI-ProteinID: NP_000466
OMIM: 300473
HGNC: 7960
Ensembl: ENSG00000169297
Vega: OTTHUMG00000021323
Pharos: P51843(Tbio)
UniProt: P51843 F1D8P4
Position
Xp21.2
AA seq 470 aa AA seqDB search
MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNV
ALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGL
PGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQR
PGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSS
GALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELA
QDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQA
IKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ
GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI
NT seq 1413 nt NT seq  +upstreamnt  +downstreamnt
atggcgggcgagaaccaccagtggcagggcagcatcctctacaacatgcttatgagcgcg
aagcaaacgcgcgcggctcctgaggctccagagacgcggctggtggatcagtgctggggc
tgttcgtgcggcgatgagcccggggtgggcagagaggggctgctgggcgggcggaacgtg
gcgctcctgtaccgctgctgcttttgcggtaaagaccacccacggcagggcagcatcctc
tacagcatgctgacgagcgcaaagcaaacgtacgcggcaccgaaggcgcccgaggcgacg
ctgggtccgtgctggggctgttcgtgcggctctgatcccggggtgggcagagcggggctt
ccgggtgggcggcccgtggcactcctgtaccgctgctgcttttgtggtgaagaccacccg
cggcagggcagcatcctctacagcttgctcactagctcaaagcaaacgcacgtggctccg
gcagcgcccgaggcacggccagggggcgcgtggtgggaccgctcctacttcgcgcagagg
ccagggggtaaagaggcgctaccaggcgggcgggccacggcgcttctgtaccgctgctgc
ttttgcggtgaagaccacccgcagcagggcagcaccctctactgcgtgcccacgagcaca
aatcaagcgcaggcggctccggaggagcggccgagggccccctggtgggacacctcctct
ggtgcgctgcggccggtggcgctcaagagtccacaggtggtctgcgaggcagcctcagcg
ggcctgttgaagacgctgcgcttcgtcaagtacttgccctgcttccaggtgctgcccctg
gaccagcagctggtgctggtgcgcaactgctgggcgtccctgctcatgcttgagctggcc
caggaccgcttgcagttcgagactgtggaagtctcggagcccagcatgctgcagaagatc
ctcaccaccaggcggcgggagaccgggggcaacgagccactgcccgtgcccacgctgcag
caccatttggcaccgccggcggaggccaggaaggtgccctccgcctcccaggtccaagcc
atcaagtgctttctttccaaatgctggagtctgaacatcagtaccaaggagtacgcctac
ctcaaggggaccgtgctctttaacccggacgtgccgggcctgcagtgcgtgaagtacatt
cagggactccagtggggaactcagcaaatactcagtgaacacaccaggatgacgcaccaa
gggccccatgacagattcatcgaacttaatagtacccttttcctgctgagattcatcaat
gccaatgtcattgctgaactgttcttcaggcccatcatcggcacagtcagcatggatgat
atgatgctggaaatgctctgtacaaagatataa

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