KEGG   Homo sapiens (human): 2516Help
Entry
2516              CDS       T01001                                 

Gene name
NR5A1, AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3, hSF-1
Definition
(RefSeq) nuclear receptor subfamily 5 group A member 1
  KO
K08560  steroidogenic factor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04927  Cortisol synthesis and secretion
hsa04934  Cushing syndrome
Network
N00297  ACTH-cortisol signaling pathway
N00298  CYP11B1-CYP11B2 fusion to ACTH-cortisol signaling pathway
N00306  SF-1-mediated transcription
N00307  Mutation-inactivated DAX1 to SF-1-mediated transcription
N00308  Mutation-inactivated SF-1 to transcription
N00320  Mutation-activated PRKACA to ACTH-cortisol signaling pathway
N00321  Mutation-activated GNAS to ACTH-cortisol signaling pathway
N00322  Mutation-inactivated PRKAR1A to ACTH-cortisol signaling pathway
N00323  Mutation-inactivated PDE11A/PDE8B to ACTH-cortisol signaling pathway
Disease
H00607  46,XY disorders of sex development (Disorders of gonadal development)
H00627  Premature ovarian failure
H01282  Spermatogenic failure
H01772  Adrenal hypoplasia congenita
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04927 Cortisol synthesis and secretion
    2516 (NR5A1)
 09160 Human Diseases
  09166 Endocrine and metabolic diseases
   04934 Cushing syndrome
    2516 (NR5A1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    2516 (NR5A1)
  09183 Protein families: signaling and cellular processes
   03310 Nuclear receptors [BR:hsa03310]
    2516 (NR5A1)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Zinc finger
   Cys4 Fushi tarazu-F1-like
    2516 (NR5A1)
Nuclear receptors [BR:hsa03310]
 5. Fushi tarazu-F1 like
  5A. Fushi tarazu-F1 like receptor
   2516 (NR5A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: zf-C4 Hormone_recep
Motif
Other DBs
NCBI-GeneID: 2516
NCBI-ProteinID: NP_004950
OMIM: 184757
HGNC: 7983
Ensembl: ENSG00000136931
Vega: OTTHUMG00000020655
Pharos: Q13285(Tchem)
UniProt: Q13285 F1D8R8
Structure
PDB: 

Position
9q33.3
AA seq 461 aa AA seqDB search
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKT
QRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKL
ETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPL
AGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV
RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN
CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLA
LQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL
LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT
NT seq 1386 nt NT seq  +upstreamnt  +downstreamnt
atggactattcgtacgacgaggacctggacgagctgtgccccgtgtgcggggacaaggtg
tccggctaccactacggactgctcacgtgtgagagctgcaagggcttcttcaagcgcacg
gtgcagaacaacaagcactacacgtgcaccgagagccagagctgcaagatcgacaagacg
cagcgcaagcgctgtcccttctgccgcttccagaaatgcctgacggtggggatgcgcctg
gaagccgtgcgcgctgaccgtatgaggggtggccggaacaagtttgggccgatgtacaag
cgggaccgggccctgaaacagcagaagaaggcacagattcgggccaatggcttcaagctg
gagacagggcccccgatgggggtgcccccgccgccccctcccgcaccggactacgtgctg
cctcccagcctgcatgggcctgagcccaagggcctggccgccggtccacctgctgggcca
ctgggcgactttggggccccagcactgcccatggccgtgcccggtgcccacgggccactg
gctggctacctctaccctgcctttcctggccgtgccatcaagtctgagtacccggagcct
tatgccagccccccacagcctgggctgccgtacggctacccagagcccttctctggaggg
cccaacgtgcctgagctcatcctgcagctgctgcagctggagccggatgaggaccaggtg
cgggcccgcatcttgggctgcctgcaggagcccaccaaaagccgccccgaccagccggcg
gccttcggcctcctgtgcagaatggccgaccagaccttcatctccatcgtggactgggca
cgcaggtgcatggtcttcaaggagctggaggtggccgaccagatgacgctgctgcagaac
tgctggagcgagctgctggtgttcgaccacatctaccgccaggtccagcacggcaaggag
ggcagcatcctgctggtcaccgggcaggaggtggagctgaccacagtggccacccaggcg
ggctcgctgctgcacagcctggtgttgcgggcgcaggagctggtgctgcagctgcttgcg
ctgcagctggaccggcaggagtttgtctgcctcaagttcatcatcctcttcagcctggat
ttgaagttcctgaataaccacatcctggtgaaagacgctcaggagaaggccaacgccgcc
ctgcttgactacaccctgtgccactacccgcactgcggggacaaattccagcagctgctg
ctgtgcctggtggaggtgcgggccctgagcatgcaggccaaggagtacctgtaccacaag
cacctgggcaacgagatgccccgcaacaacctgctcatcgaaatgctgcaagccaagcag
acttga

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