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QuickView for Nr5a1 (gene)


Gene Symbol:
NR5A1 Homo sapiens Homo sapiens
Full name:
nuclear receptor subfamily 5 group A member 1
Synonyms:
AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3, hSF-1, steroidogenic factor 1, STF-1, adrenal 4 binding protein, fushi tarazu factor homolog 1, nuclear receptor AdBP4, steroid hormone receptor Ad4BP, steroidogenic factor 1 nuclear receptor, steroidogenic factor-1
Genomic Location:
Chr 9: 126283336-126309520
Description:
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect.
Orthologs:
Mus musculus Rattus norvegicus Macaca mulatta Bos taurus Gallus gallus Pan troglodytes Canis lupus familiaris
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
Cytogenetic Map:
chr 9
9q33.3


Transcripts Names
NM_004959
Protein Names
F1D8R8
O15196
Q13285
Q5T6F5



GO Molecular Function

sequence-specific DNA binding | transcription regulatory region DNA binding | RNA polymerase II transcription factor activity, sequence-specific DNA binding | enhancer binding | nuclear receptor activity | cation binding | transcription factor activity, direct ligand regulated sequence-specific DNA binding | enzyme binding | nucleic acid binding | lipid binding | phospholipid binding | steroid hormone receptor activity | chromatin binding | anion binding | enhancer sequence-specific DNA binding | RNA polymerase II regulatory region DNA binding | DNA binding | signaling receptor activity | sequence-specific double-stranded DNA binding | ion binding | organic cyclic compound binding | transcription coactivator activity | transcription regulatory region sequence-specific DNA binding | protein binding | zinc ion binding | double-stranded DNA binding | DNA-binding transcription factor activity | RNA polymerase II regulatory region sequence-specific DNA binding | RNA polymerase II distal enhancer sequence-specific DNA binding | transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding | transition metal ion binding | transcription coregulator activity | metal ion binding | heterocyclic compound binding

GO Biological Process

RNA metabolic process | transcription by RNA polymerase II | maintenance of protein location in nucleus | DNA-templated transcription, initiation | positive regulation of macromolecule biosynthetic process | negative regulation of female gonad development | developmental process involved in reproduction | intracellular signal transduction | gonad development | female gonad development | response to hormone | RNA polymerase II transcription factor activity, sequence-specific DNA binding | positive regulation of developmental process | cell differentiation | positive regulation of gonad development | hormone-mediated signaling pathway | positive regulation of cellular biosynthetic process | cellular process | nuclear receptor activity | localization | reproductive system development | transcription factor activity, direct ligand regulated sequence-specific DNA binding | multicellular organismal reproductive process | macromolecule localization | positive regulation of nitrogen compound metabolic process | response to peptide hormone | tissue development | regulation of cellular process | cellular response to lipid | regulation of metabolic process | organic cyclic compound metabolic process | RNA biosynthetic process | cellular aromatic compound metabolic process | development of primary sexual characteristics | response to stimulus | response to gonadotropin-releasing hormone | cellular nitrogen compound biosynthetic process | ovulation cycle | response to peptide | protein localization to nucleus | development of primary female sexual characteristics | reproduction | cellular localization | rhythmic process | cellular nitrogen compound metabolic process | maintenance of protein localization in organelle | cellular response to organic cyclic compound | positive regulation of RNA biosynthetic process | steroid hormone receptor activity | steroid hormone mediated signaling pathway | regulation of steroid biosynthetic process | cellular biosynthetic process | cell-cell signaling | regulation of steroid metabolic process | regulation of nucleic acid-templated transcription | response to nitrogen compound | cellular response to hormone stimulus | system development | nitrogen compound metabolic process | reproductive process | multicellular organism development | regulation of hormone levels | regulation of gene expression | regulation of female gonad development | response to lipid | positive regulation of male gonad development | positive regulation of cellular metabolic process | regulation of nitrogen compound metabolic process | regulation of transcription by RNA polymerase II | primary sex determination | protein localization to organelle | second-messenger-mediated signaling | luteinization | biosynthetic process | regulation of male gonad development | aromatic compound biosynthetic process | sex determination | endocrine system development | ovulation cycle process | maintenance of protein location | cell communication | regulation of cellular metabolic process | transcription coactivator activity | regulation of RNA metabolic process | regulation of lipid biosynthetic process | calcium-mediated signaling | multicellular organism reproduction | development of primary male sexual characteristics | DNA-binding transcription factor activity | response to organic substance | gland development | male sex differentiation | anatomical structure development | metabolic process | regulation of RNA biosynthetic process | male gonad development | cellular protein localization | adrenal gland development | nucleobase-containing compound metabolic process | organic substance metabolic process | animal organ development | gene expression | transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding | maintenance of protein location in cell | calcineurin-mediated signaling | cellular response to steroid hormone stimulus | transcription initiation from RNA polymerase II promoter | transcription, DNA-templated | intracellular receptor signaling pathway | multicellular organism aging | signaling | regulation of transcription, DNA-templated | response to organic cyclic compound | protein localization | hormone metabolic process | cellular macromolecule localization | cellular macromolecule biosynthetic process | reproductive structure development | regulation of developmental process | developmental process | positive regulation of transcription, DNA-templated | positive regulation of nucleic acid-templated transcription | response to organonitrogen compound | transcription coregulator activity | positive regulation of transcription by RNA polymerase II | heterocycle metabolic process | regulation of lipid metabolic process | positive regulation of metabolic process | cellular metabolic process | female sex differentiation | cellular response to organic substance | sex differentiation | response to steroid hormone | aging | signal transduction | positive regulation of gene expression | macromolecule metabolic process | maintenance of location in cell | multicellular organismal process

GO Cellular Component

nuclear transcription factor complex | intracellular membrane-bounded organelle | RNA polymerase II transcription factor complex | cell | nuclear lumen | transcription factor complex | intracellular organelle | protein-containing complex | nucleoplasm | membrane-bounded organelle | nucleus | organelle | membrane-enclosed lumen | intracellular