SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000527 
UniProt Accession
Theoretical PI
7.48  
Molecular Weight
51636 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
NR5A1 
Gene Synonyms/Alias
AD4BP, FTZF1, SF1 
Protein Name
Steroidogenic factor 1 
Protein Synonyms/Alias
SF-1STF-1 Adrenal 4-binding protein; Fushi tarazu factor homolog 1; Nuclear receptor subfamily 5 group A member 1; Steroid hormone receptor Ad4BP; 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:9;127243516-127269709;-1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
Ad4bp/SF-1 is important for the maintenance of steroidogenesis in the human testis. DAX-1 plays a critical role in spermatogenesis in the human testis, and Sertoli cell-only syndrome and maturation arrest may result from abnormal Sertoli cell function that disrupts the normal progression of spermatogenesis. 
The information of related literatures
1. Y. Kojima, S. Sasaki, Y. Hayashi, Y. Umemoto, K. Morohashi and K. Kohri (2006) Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia. Int J Urol 13(6): 785-93. 

Abstract
BACKGROUND PMID: [16834661] 

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Figures for illustrating the function of this protein/gene
Ref: Y. Kojima, S. Sasaki, Y. Hayashi, Y. Umemoto, K. Morohashi and K. Kohri (2006) Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia. Int J Urol 13(6): 785-93. PMID: [16834661]
Ref: Y. Kojima, S. Sasaki, Y. Hayashi, Y. Umemoto, K. Morohashi and K. Kohri (2006) Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia. Int J Urol 13(6): 785-93. PMID: [16834661]
Function
Transcriptional activator. Seems to be essential forsexual differentiation and formation of the primary steroidogenictissues. Binds to the Ad4 site found in the promoter region ofsteroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Alsoregulates the AMH/Muellerian inhibiting substance gene as well asthe AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are theconsensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal andcAMP-dependent transcriptional avtivity. Binds phosphatidylcholine(By similarity). Binds phospholipids with a phosphatidylinositol(PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activatedby the phosphorylation of NR5A1 by HIPK3 leading to increasedsteroidogenic gene expression upon cAMP signaling pathwaystimulation. 
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Subcellular Location
Nucleus. 
Tissue Specificity
 
Gene Ontology
GO IDGO termEvidence
GO:0005654 C:nucleoplasm TAS:Reactome.
GO:0003682 F:chromatin binding IEA:Compara.
GO:0003677 F:DNA binding IDA:UniProtKB.
GO:0003690 F:double-stranded DNA binding IEA:Compara.
GO:0004879 F:ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS:ProtInc.
GO:0005543 F:phospholipid binding IDA:UniProtKB.
GO:0003705 F:RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA:UniProtKB.
GO:0043565 F:sequence-specific DNA binding IEA:Compara.
GO:0003707 F:steroid hormone receptor activity IEA:InterPro.
GO:0003713 F:transcription coactivator activity TAS:ProtInc.
GO:0008270 F:zinc ion binding IEA:InterPro.
GO:0030325 P:adrenal gland development IEA:Compara.
GO:0030154 P:cell differentiation IEA:Compara.
GO:0007267 P:cell-cell signaling TAS:ProtInc.
GO:0001553 P:luteinization IEA:Compara.
GO:0051457 P:maintenance of protein location in nucleus IEA:Compara.
GO:0008584 P:male gonad development TAS:ProtInc.
GO:2000195 P:negative regulation of female gonad development IEA:Compara.
GO:2000020 P:positive regulation of male gonad development IDA:UniProtKB.
GO:0045944 P:positive regulation of transcription from RNA polymerase II promoter IMP:UniProtKB.
GO:0007538 P:primary sex determination TAS:ProtInc.
GO:0050810 P:regulation of steroid biosynthetic process TAS:UniProtKB.
GO:0009888 P:tissue development IEA:Compara.
GO:0006367 P:transcription initiation from RNA polymerase II promoter TAS:Reactome.
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Interpro
IPR008946;    Nucl_hormone_rcpt_ligand-bd.
IPR000536;    Nucl_hrmn_rcpt_lig-bd_core.
IPR016355;    Steroidogenic_factor_1.
IPR001723;    Str_hrmn_rcpt.
IPR001628;    Znf_hrmn_rcpt.
IPR013088;    Znf_NHR/GATA.
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Pfam
PF00104;    Hormone_recep;    1.
PF00105;    zf-C4;    1.
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SMART
SM00430;    HOLI;    1.
SM00399;    ZnF_C4;    1.
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PROSITE
PS00031;    NUCLEAR_REC_DBD_1;    1.
PS51030;    NUCLEAR_REC_DBD_2;    1.
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PRINTS
PR00398;    STRDHORMONER.;   
PR00047;    STROIDFINGER.;   
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Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    461       Steroidogenic factor 1.
                             /FTId=PRO_0000053729.
DNA_BIND     10     85       Nuclear receptor.
ZN_FING      13     33       NR C4-type.
ZN_FING      49     73       NR C4-type.
REGION      230    461       Important for dimerization.
REGION      260    347       Ligand-binding.
BINDING     341    341       Lipid headgroup; via amide nitrogen.
BINDING     436    436       Lipid headgroup.
BINDING     440    440       Lipid headgroup.
MOD_RES      34     34       N6-acetyllysine (Probable).
MOD_RES      38     38       N6-acetyllysine (Probable).
MOD_RES      72     72       N6-acetyllysine (Probable).
MOD_RES     203    203       Phosphoserine; by CDK7.
CROSSLNK    119    119       Glycyl lysine isopeptide (Lys-Gly)
                             (interchain with G-Cter in SUMO).
CROSSLNK    194    194       Glycyl lysine isopeptide (Lys-Gly)
                             (interchain with G-Cter in SUMO).
VARIANT      15     15       V -> M (in SRXY3; without adrenal
                             failure).
                             /FTId=VAR_063255.
VARIANT      33     33       C -> S (in SRXY3; without adrenal
                             failure; markedly impaired
                             transcriptional activity).
                             /FTId=VAR_039106.
VARIANT      35     35       G -> E (in SRXY3; with adrenal failure).
                             /FTId=VAR_004737.
VARIANT      78     78       M -> I (in SRXY3; without adrenal
                             failure).
                             /FTId=VAR_063256.
VARIANT      84     84       R -> H (in SRXY3; without adrenal
                             failure; markedly impaired
                             transcriptional activity).
                             /FTId=VAR_039107.
VARIANT      91     91       G -> S (in SRXY3; without adrenal
                             failure).
                             /FTId=VAR_063257.
VARIANT      92     92       R -> Q (in SRXY3; with adrenal failure).
                             /FTId=VAR_016982.
VARIANT     123    123       G -> A (in SPGF8 and POF7; activity
                             levels similar to wild-type).
                             /FTId=VAR_062967.
VARIANT     129    129       P -> L (in SPGF8 and POF7; loss of
                             activity).
                             /FTId=VAR_062968.
VARIANT     131    131       P -> L (in SPGF8; impairs
                             transactivational activity).
                             /FTId=VAR_065866.
VARIANT     146    146       G -> A (in dbSNP:rs1110061).
                             /FTId=VAR_039108.
VARIANT     191    191       R -> C (in SPGF8; impairs
                             transactivational activity).
                             /FTId=VAR_065867.
VARIANT     212    212       G -> S (in SPGF8; impairs
                             transactivational activity).
                             /FTId=VAR_065868.
VARIANT     231    233       Missing (in POF7).
                             /FTId=VAR_062969.
VARIANT     238    238       D -> N (in SPGF8; impairs
                             transactivational activity).
                             /FTId=VAR_065869.
VARIANT     255    255       R -> L (in ACIWOD).
                             /FTId=VAR_016983.
VARIANT     293    293       D -> N (in POF7; without adrenal failure;
                             partial loss of activity).
                             /FTId=VAR_062970.
VARIANT     437    437       L -> Q (in SRXY3; without adrenal
                             failure).
                             /FTId=VAR_063258.
MUTAGEN     119    119       K->R: Loss of sumoylation; when
                             associated with R-194.
MUTAGEN     194    194       K->R: Loss of sumoylation.
MUTAGEN     269    269       A->F: Strongly reduced transactivation.
MUTAGEN     341    341       G->E: Reduced transactivation. Strongly
                             reduced transactivation; when associated
                             with F-344.
MUTAGEN     344    344       L->F: Reduced transactivation. Strongly
                             reduced transactivation; when associated
                             with E-341.
MUTAGEN     433    433       A->F: Strongly reduced transactivation.
MUTAGEN     436    436       Y->F: Loss of transactivation; when
                             associated with A-440.
MUTAGEN     440    440       K->A: Loss of transactivation; when
                             associated with F-436.
CONFLICT     63     63       K -> N (in Ref. 2; BAA13546).
HELIX       225    233
HELIX       239    243
HELIX       262    282
HELIX       286    288
HELIX       291    317
STRAND      322    324
STRAND      326    328
STRAND      330    332
HELIX       333    339
HELIX       342    360
HELIX       365    376
HELIX       381    383
HELIX       387    408
STRAND      411    413
HELIX       415    442
HELIX       451    456
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Nucleotide Sequence
Length: 1895 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 461 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
 Gene Symbol Ref Databases
_HPRD 
_HPRD 
CDIPTString 
CRKIntAct 
EDF1HPRD 
NR0B1HPRD 
GATA4HPRD 
GRB2IntAct 
JUNBioGRID 
MAPK1HPRD 
NCK1IntAct 
NCOA1HPRD 
NFYAHPRD 
NR0B1HPRD 
NRIP1HPRD 
PIK3R1IntAct 
PIAS1HPRD 
PITX1HPRD 
PNRC2HPRD 
PROX1HPRD 
MAPK1HPRD 
MAPK1HPRD 
YPO4108IntAct 
SMARCD3HPRD 
SOX2HPRD 
SOX8HPRD 
SOX9HPRD 
SP1HPRD 
_BioGRID 
ARHPRD 
TCF7L2BioGRID 
TCF7L2BioGRID 
_BioGRID 
TCF7L2BioGRID 
_BioGRID 
_BioGRID 
_BioGRID 
_BioGRID 
TCF7L2BioGRID 
CREBBPBioGRID 
CDIPTString 
CRKMINT 
CTNNB1HPRD 
CXXC1BioGRID 
EDF1IntAct 
NR0B1BioGRID 
FYNIntAct 
GATA4BioGRID 
JUNHPRD 
NCK1MINT 
NCOA1BioGRID 
NFKB2HPRD 
NR0B1BioGRID 
NRIP1BioGRID 
PIK3R1MINT 
PITX1BioGRID 
CREBBPBioGRID 
TCF7L2BioGRID 
_HPRD 
SOX9BioGRID 
TCF7L2BioGRID 
TRERF1BioGRID 
ZNF653BioGRID 
TBX19HPRD 
GTF2BHPRD 
TRERF1HPRD 
Other Protein-Protein interaction resources
String database  
View Microarray data
Temporarily unavailable 
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