SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00001083 
UniProt Accession
Theoretical PI
5.77  
Molecular Weight
52576 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
Nr0b1 
Gene Synonyms/Alias
Ahch, Dax1 
Protein Name
Nuclear receptor subfamily 0 group B member 1 
Protein Synonyms/Alias
Nuclear receptor DAX-1; 
Organism
Mus musculus (Mouse) 
NCBI Taxonomy ID
10090 
Chromosome Location
chr:X;83437103-83441286;1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
Temporarily unavailable 
The information of related literatures
1. R. N. Yu, M. Ito, T. L. Saunders, S. A. Camper and J. L. Jameson (1998) Role of Ahch in gonadal development and gametogenesis. Nat Genet 20(4): 353-7. 

Abstract
Ahch (also known as Dax1) encodes a transcription factor that has been implicated in sex determination and gonadal differentiation. Mutations in human AHC cause X-linked, adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH). Duplication of the Xp21 dosage-sensitive sex reversal (DSS) region, which contains the Ahch locus, and transgenic overexpression of Ahch cause male-to-female sex reversal. Using Cre-mediated disruption of Ahch, we have generated a mouse model of AHC-HH that allows the function of Ahch to be examined in both males and females. Although Ahch has been postulated to function as an ovarian determination gene, the loss of Ahch function in females does not affect ovarian development or fertility. Ahch is instead essential for the maintenance of spermatogenesis. Lack of Ahch causes progressive degeneration of the testicular germinal epithelium independent of abnormalities in gonadotropin and testosterone production and results in male sterility. Ahch is thus not an ovarian determining gene, but rather has a critical role in spermatogenesis. PMID: [9843206] 

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Figures for illustrating the function of this protein/gene
Ref: R. N. Yu, M. Ito, T. L. Saunders, S. A. Camper and J. L. Jameson (1998) Role of Ahch in gonadal development and gametogenesis. Nat Genet 20(4): 353-7. PMID: [9843206]
Ref: R. N. Yu, M. Ito, T. L. Saunders, S. A. Camper and J. L. Jameson (1998) Role of Ahch in gonadal development and gametogenesis. Nat Genet 20(4): 353-7. PMID: [9843206]
Ref: R. N. Yu, M. Ito, T. L. Saunders, S. A. Camper and J. L. Jameson (1998) Role of Ahch in gonadal development and gametogenesis. Nat Genet 20(4): 353-7. PMID: [9843206]
Function
Orphan nuclear receptor. Component of a cascade requiredfor the development of the hypothalamic-pituitary-adrenal-gonadalaxis. Acts as a coregulatory protein that inhibits thetranscriptional activity of other nuclear receptors throughheterodimeric interactions. May also have a role in thedevelopment of the embryo and in the maintenance of embryonic stemcell pluripotency (By similarity). 
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Subcellular Location
Nucleus (By similarity). Cytoplasm (Bysimilarity). Note=Shuttles between the cytoplasm and nucleus.Homodimers exits in the cytoplasm and in the nucleus (Bysimilarity). 
Tissue Specificity
Expressed in adult cerebral cortex, spinalcord, thymus, heart, lung, ovary, testis, adrenal gland,hypothalamus, spleen and kidney. 
Gene Ontology
GO IDGO termEvidence
GO:0005626 C:insoluble fraction IDA:HGNC.
GO:0005624 C:membrane fraction IEA:Compara.
GO:0005634 C:nucleus IDA:HGNC.
GO:0042788 C:polysomal ribosome IDA:HGNC.
GO:0032448 F:DNA hairpin binding IEA:Compara.
GO:0003690 F:double-stranded DNA binding IEA:Compara.
GO:0004879 F:ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity IEA:Compara.
GO:0003723 F:RNA binding IDA:HGNC.
GO:0043565 F:sequence-specific DNA binding IEA:Compara.
GO:0003707 F:steroid hormone receptor activity IEA:InterPro.
GO:0003714 F:transcription corepressor activity IGI:MGI.
GO:0030325 P:adrenal gland development IGI:MGI.
GO:0033327 P:Leydig cell differentiation IMP:MGI.
GO:0030238 P:male sex determination IMP:MGI.
GO:0045596 P:negative regulation of cell differentiation IMP:MGI.
GO:0033144 P:negative regulation of intracellular steroid hormone receptor signaling pathway IEA:Compara.
GO:0043433 P:negative regulation of sequence-specific DNA binding transcription factor activity IEA:Compara.
GO:0000122 P:negative regulation of transcription from RNA polymerase II promoter IMP:MGI.
GO:0008104 P:protein localization IEA:Compara.
GO:0043434 P:response to peptide hormone stimulus IEA:Compara.
GO:0006950 P:response to stress IMP:MGI.
GO:0060008 P:Sertoli cell differentiation IMP:MGI.
GO:0007283 P:spermatogenesis IMP:MGI.
GO:0006694 P:steroid biosynthetic process IEA:Compara.
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Interpro
IPR008946;    Nucl_hormone_rcpt_ligand-bd.
IPR000536;    Nucl_hrmn_rcpt_lig-bd_core.
IPR025900;    Nuclear_receptor_repeat.
IPR001723;    Str_hrmn_rcpt.
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Pfam
PF00104;    Hormone_recep;    1.
PF14046;    NR_Repeat;    4.
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SMART
SM00430;    HOLI;    1.
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PROSITE
PRINTS
PR00398;    STRDHORMONER.;   
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Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    472       Nuclear receptor subfamily 0 group B
                             member 1.
                             /FTId=PRO_0000053749.
REPEAT        1     67       1.
REPEAT       68    135       2.
REPEAT      136    202       3.
REPEAT      203    255       4; truncated.
REGION        1    255       4 X 67 AA tandem repeats.
REGION      256    472       Ligand-binding (By similarity).
MOTIF        13     17       LXXLL motif 1.
MOTIF        80     84       LXXLL motif 2.
MOTIF       148    152       LXXLL motif 3.
MOTIF       463    468       AF-2 motif.
HELIX       253    272
HELIX       275    278
HELIX       282    303
HELIX       359    372
HELIX       377    388
HELIX       399    420
HELIX       426    438
HELIX       445    450
HELIX       452    455
HELIX       460    467
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Nucleotide Sequence
Length: 767 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 472 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
 Gene Symbol Ref Databases
Sall4BioGRID 
Sall4BioGRID 
Sall4BioGRID 
NanogBioGRID 
EsrrbBioGRID 
EsrrbBioGRID 
Hnf4aBioGRID 
Slc8a1IntAct 
NanogBioGRID 
RestBioGRID 
Wdr5BioGRID 
Rif1BioGRID 
Sall4BioGRID 
Sall4BioGRID 
Sall4BioGRID 
NanogBioGRID 
EsrrbBioGRID 
Prmt1BioGRID 
EsrrbBioGRID 
Hnf4aBioGRID 
Slc8a1IntAct 
NanogBioGRID 
OgtBioGRID 
PeloBioGRID 
Pou5f1BioGRID 
PeloBioGRID 
Snw1BioGRID 
Trim28BioGRID 
Sall1BioGRID 
EsrrbBioGRID 
EsrrbBioGRID 
Snw1BioGRID 
RestBioGRID 
Rif1BioGRID 
Sall4BioGRID 
Snw1BioGRID 
Sp1BioGRID 
Trim28BioGRID 
Wdr5BioGRID 
Znf609BioGRID 
Pou5f1BioGRID 
Zfp281IntAct 
EsrrbBioGRID 
EsrrbBioGRID 
Sall4BioGRID 
Other Protein-Protein interaction resources
String database  
View Microarray data
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