 |
 | Services
| |
 |
Aliases &
Descriptions
for NR5A1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases |
|---|
| AD4BP 1, 2, 3 | | ELP 1, 2 | | FTZ1 1, 2 | | FTZF1 2, 3 | | OTTHUMP00000022104 2 | | OTTHUMP00000042845 2 | | OTTHUMP00000042846 2 | | OTTHUMP00000042847 2 | | SF-1 1, 2, 3 | | SF1 2, 3 | | STF-1 3 |
| | | Descriptions |
|---|
| Adrenal 4-binding protein 3 | | Fushi tarazu factor homolog 1 2, 3 | | Nuclear receptor subfamily 5 group A member 1 3 | | Steroid hormone receptor Ad4BP 2, 3 | | adrenal 4 binding protein 2 | | nuclear receptor AdBP4 2 | | nuclear receptor subfamily 5, group A, member 1 2 | | steroidogenic factor 1 2 | | steroidogenic factor-1 2 |
|
| |
Search outside databases for aliases for NR5A1 genePrevious GC identifers: GC09M118359 GC09M118890 GC09M120697 GC09M122619 GC09M124323 |
Summaries
for NR5A1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for NR5A1:
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.
[provided by RefSeq]
UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285Function: Transcriptional activator. Seems to be essential for sexual differentiation and formation
of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of
steroidogenic P-450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the Muellerian
inhibiting substance (AMH) gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and
5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1/FTZF1. The
SFPQ-NONO-NR5A1/SF-1 complex binds to the CYP17 promoter and regulates basal and cAMP-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)P3Gene Wiki entry for NR5A1 (Steroidogenic_factor_1) |
Genomic Location
for NR5A1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences)
About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
 Transcription factor binding sites upstream to the NR5A1 gene 
Entrez Gene cytogenetic band: 9q33 Ensembl cytogenetic band: 9q33.3 HGNC cytogenetic band: 9q33NR5A1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M126283:
(about GC identifiers)
Start:
|
126,283,336 bp from pter |
End:
|
126,309,520 bp from pter |
Size:
|
26,185 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000009.10 NT_008470.18
| Proteins
for NR5A1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285 (See
protein sequence)Recommended Name: Steroidogenic factor 1 Size: 461 amino acids; 51636 Da
Subunit: Binds DNA as a monomer. Interacts with NR0B2 and PPARGC1A (By similarity). Part of a
complex consisting of SFPQ, NONO and NR5A1/SF-1. Interacts with NCOA2
Subcellular location: Nucleus
PDB structure from  and Proteopedia  :1YOW (3D)
1ZDT (3D)
Secondary accessions: O15196Post-translational modifications:
Acetylation stimulates the transcriptional activity1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004950.2
ENSEMBL proteins: ENSP00000362689 ENSP00000362690
Human Recombinant Proteins  OriGene Purified Recombinant Human Protein: NR5A1
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for NR5A1:
Assays for NR5A1: | Protein
Domains/
Families
for NR5A1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q13285
ProtoNet protein and cluster: Q13285 1 Blocks protein family: IPB001723 Steroid hormone receptor signature
UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285Similarity: Belongs to the nuclear hormone receptor family. NR5 subfamilySimilarity: Contains 1 nuclear receptor DNA-binding domain | Gene Function
for NR5A1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004959
 Applied Biosystems Silencer® siRNAs for NR5A1
 Sigma-Aldrich siRNA and siRNA Panels for NR5A1
Sigma-Aldrich shRNA Panels and shRNA for NR5A1
Explore Sigma-Aldrich super-pooled esiRNAs
OriGene GFP tagged cDNA clone in CMV expression vector: NM_004959
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004959
untagged cDNA clone in CMV expression vector: NM_004959
Primers:  Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
OriGene genome-wide validated SYBR primer pairs: NM_004959
UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285Function: Transcriptional activator. Seems to be essential for sexual differentiation and formation
of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of
steroidogenic P-450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the Muellerian
inhibiting substance (AMH) gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and
5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1/FTZF1. The
SFPQ-NONO-NR5A1/SF-1 complex binds to the CYP17 promoter and regulates basal and cAMP-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)P3Genatlas biochemistry entry for NR5A1:nuclear receptor subfamily 5,group A,member 1,involved in adrenocortical and gonadal
development,associating with WT1 for regulating AMH expression,controlling the transcription of
NR0B1,steroid/thyroid hormone receptor,superfamily9 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Nr5a1):
5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
): About this table | Pathways & Interactions
for NR5A1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for NR5A1
5/108 Interacting proteins for NR5A1 (ENSP000003626903 Q132851, 2) via UniProtKB, MINT, and/or STRING (see all 108
)About this table
5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12
): About this table
|
Drugs & Compounds
for NR5A1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Compounds for NR5A1 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| SID 7969543 | Selective steroidogenic factor-1 (SF-1, NR5A1) inhibitor | [868224-64-0] |
About this table
10/33  Novoseek chemical compound relationships for NR5A1 gene (see all 33
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ptx1 |
84.58 |
31 |
12915995 (6), 10369682 (4), 10082522 (3), 12700240 (3) (see all 9) |
| steroid |
74.84 |
99 |
8395654 (3), 1732738 (2), 17761949 (2), 9580943 (2) (see all 57) |
| 3beta-hydroxysteroid |
74.75 |
14 |
7639190 (2), 10221587 (1), 9503472 (1), 12658635 (1) (see all 8) |
| dmrt |
64.89 |
1 |
16868052 (1) |
| acth |
63.28 |
37 |
9636648 (2), 15261303 (2), 11241179 (2), 17664281 (2) (see all 17) |
| 17beta-hydroxysteroid |
51.03 |
8 |
18590202 (1), 18957495 (1), 11479137 (1) |
| cholesterol |
45.63 |
25 |
10970793 (4), 8119192 (1), 15289763 (1), 16837617 (1) (see all 15) |
| progesterone |
45.35 |
13 |
10098511 (3), 10221587 (2), 9503472 (1), 9580943 (1) (see all 8) |
| forskolin |
44.91 |
13 |
14596681 (4), 16002533 (3), 10221587 (2), 15128284 (2) (see all 6) |
| hydroxysteroid |
43.57 |
1 |
9580943 (1) |
About this table
|
Transcripts
for NR5A1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene,
Expression Assays from Applied Biosystems)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004959
Sigma-Aldrich siRNA and siRNA Panels for NR5A1
Sigma-Aldrich shRNA Panels and shRNA for NR5A1
Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer® siRNAs: NM_004959 REFSEQ mRNAs for NR5A1 gene: NM_004959.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004959
OriGene GFP tagged cDNA clone in CMV expression vector: NM_004959
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004959
untagged cDNA clone in CMV expression vector: NM_004959
Additional cDNA sequence: AB307718.1 BC032501.1 U76388.1 5 DOTS entries: DT.100025887 DT.100025888 DT.97790735 DT.426015 DT.121187645 24/35 AceView cDNA sequences (see all 35
):AL040513 AA582053 BX089228 U76388 AX746651 AK090858 BI835112 BF969543 BC032501 BQ651118 BQ646426 NM_004959 BQ709205 BM804762 BI833114 BQ712393 AL040512 AW183945 AI125719 AI239552 BF968355 AW297950 BQ710198 BQ644833
 highest scoring ESTs for NR5A1:AL040513 BC032501 BG721096 BI520458 BI833114 BI835538 U76388 AI125719 AI239552 AW183945 Unigene Cluster for NR5A1: Nuclear receptor subfamily 5, group A, member 1 Hs.495108 [show with all ESTs]Unigene Representative Sequence: BC032501
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for NR5A1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11 |
|---|
|
| SP1: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for NR5A1
2 Ensembl transcripts including schematic representations: ENST00000373587
ENST00000373588
|
Expression
for NR5A1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| NR5A1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for NR5A1
1 / 2 / 3 5 probe-sets matching NR5A1 gene Data from
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.495108
Expression variation in blood from EXPOLDB for NR5A1 |
Orthologs
for NR5A1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for NR5A1 gene from 5/8 species (see all 8
)
| Organism |
Gene |
Locus |
Description |
Human
Similarity |
NCBI accessions |
dog
(Canis familiaris) |
NR5A11 |
-- |
nuclear receptor subfamily 5, group A, member 1 |
87.85(n)
89.8(a) |
609642 XM_846937.1 XP_852030.1 |
chimpanzee
(Pan troglodytes) |
NR5A11 |
-- |
nuclear receptor subfamily 5, group A, member 1 |
99.14(n)
99.3(a) |
464724 XM_520248.2 XP_520248.2 |
cow
(Bos taurus) |
NR5A11 |
-- |
nuclear receptor subfamily 5, group A, member 1 |
93.06(n)
95.01(a) |
281948 NM_174403.2 NP_776828.1 |
rat
(Rattus norvegicus) |
Nr5a11 |
-- |
nuclear receptor subfamily 5, group A, member 1 |
88.5(n)
93.93(a) |
83826 XM_001072865.1 XP_001072865.1 |
mouse
(Mus musculus) |
Nr5a11, 5 |
2 (23.50 cM)5
|
nuclear receptor subfamily 5, group A, member 11, 5 |
88.5(n)1
93.71(a)1 |
264231 NM_139051.31 NP_620639.11
AB0004905 AB0095765 (see all 24) |
About this table Species with no ortholog for NR5A1
ENSEMBL Gene Tree for NR5A1 | Paralogs
for NR5A1(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for NR5A1 gene
- NR5A22
|
SNPs/Variants
for NR5A1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for NR5A1 (up to first 250kb)
|
Disorders & Mutations
for NR5A1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 184757
UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285
Defects in NR5A1 are a cause of XY sex reversal with or without adrenal failure
[MIM:184757]. This disease is characterized by normal female external genitalia and retention of
the uterus Defects in NR5A1 are a cause of adrenocortical insufficiency without ovarian defect
[MIM:184757]. The disease is characterized by severe 'slackness,' muscular hypotonia. There is
decreased sodium, increased potassium and elevated ACTH10/37 Novoseek disease relationships for NR5A1 gene (see all 37
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| adrenal hypoplasia, congenital |
83.14 |
10 |
15379426 (1), 18984668 (1), 12536356 (1), 11738790 (1) |
| addisons disease |
81.74 |
19 |
11748841 (1), 14580722 (1), 16684822 (1), 12530669 (1) (see all 12) |
| lipoid congenital adrenal hyperplasia |
74.47 |
1 |
11502818 (1) |
| adenoma adrenocortical |
71.00 |
4 |
11592817 (1), 7629233 (1), 9851803 (1), 11857908 (1) |
| carcinoma adrenocortical |
64.64 |
13 |
7557951 (3), 9232190 (2), 19433645 (1), 17566092 (1) (see all 5) |
| gonadal agenesis |
64.14 |
4 |
15070943 (2), 17200175 (1) |
| pseudohermaphroditism male |
61.26 |
4 |
15379426 (1), 9590178 (1), 11038323 (1) |
| sex cord-stromal tumor |
60.70 |
13 |
19033865 (3), 7673429 (2), 18753972 (1) |
| adrenal tumor |
55.49 |
6 |
9832418 (1), 10403575 (1), 7608198 (1), 10919277 (1) (see all 5) |
| adrenal disease |
55.23 |
2 |
16564598 (1) |
About this table
GeneTests: NR5A1
46
Human Gene Mutation Database: NR5A1
Genetic Association Database: NR5A1
Human Genome Epidemiology Navigator: NR5A1 (4 documents)
|
Medical News
for NR5A1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for NR5A1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/438 PubMed articles for NR5A1 gene (see all 438
):- Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. (PubMed id 17694559)1, 3, 4 Kohler B....Achermann J.C. (2008)
- The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. (PubMed id 15897460)1, 3, 4 Wang W.... West B.L. (2005)
- Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5. (PubMed id 11479297)1, 3, 4 Jacob A.L.... Hedin L. (2001)
- Structural characterization of human Ad4bp (SF-1) gene. (PubMed id 8806624)1, 3, 4 Oba K.... Nawata H. (1996)
- Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. (PubMed id 15707893)1, 3, 4 Krylova I.N.... Ingraham H.A. (2005)
- Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein- associated splicing factor, and SF-1, a complex that also participates in repression of transcription. (PubMed id 11897684)1, 3, 4 Sewer M.B....Waterman M.R. (2002)
- Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. (PubMed id 11932325)1, 3, 4 Achermann J.C....Jameson J.L. (2002)
- Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. (PubMed id 11038323)1, 3, 4 Biason-Lauber A. and Schoenle E.J. (2000)
- Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. (PubMed id 10230405)1, 3, 4 Hammer G.D.... Ingraham H.A. (1999)
- Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33. (PubMed id 7789992)1, 2, 3 Taketo M....Seldin M.F. (1995)
|
Search for NR5A1
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NR5A1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing NR5A1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NR5A1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| About This Section
| --
| Services
for NR5A1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
| 
Products for NR5A1:
 | |
 | | | | |
 |
 |  |  | |
| | |  | Tocris compounds for NR5A1 |
|
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|
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Incremental update: 13 Oct 2009
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