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Nr0b1 Gene Detail
Summary
  • Symbol
    Nr0b1
  • Name
    nuclear receptor subfamily 0, group B, member 1
  • Synonyms
    Ahc, Ahch, AHX, Dax1, DAX-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352460
    NCBI Gene: 11614
  • Gene Overview
    MyGene.info: NR0B1
Location & Maps
more
  • Sequence Map
    ChrX:86191764-86195947 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4184 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 39.67 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    NR0B1, nuclear receptor subfamily 0 group B member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NR0B1, nuclear receptor subfamily 0 group B member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AHC, AHCH, AHX, DAX1, DAX-1, DSS, GTD, HHG, NROB1, SRXY2
  • Links
    NCBI Gene ID: 190
    neXtProt AC: NX_P51843

  • Chr Location
    Xp21.3; chrX:30304422-30309378 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 403
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: NR0B1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nr0b1 mouse models; 2 with human NR0B1 associations

Human Disease Mouse Models
       Adrenal Hypoplasia, Congenital; AHC   OMIM: 300200 View 1 model
       46,xy Sex Reversal 2; SRXY2   OMIM: 300018
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 2 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    3
  • Targeted
    2
  • Transgenic
    1
  • Incidental Mutations
    APF
Mutations that inactivate this X-linked gene result in abnormal repoductive development in the hemizygote, ranging from defects in testes development and spermatogenesis to complete male to female sex reversal depending on genetic background.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017945 VEGA Gene Model | MGI Sequence Detail 4184 C57BL/6J ±  kb
transcript OTTMUST00000043377 VEGA | MGI Sequence Detail 1808 Not Applicable  
polypeptide OTTMUSP00000019489 VEGA | MGI Sequence Detail 472 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    57 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000011390 nuclear receptor subfamily 0 group B member 1
  • PDB
  • InterPro Domains
    IPR001723 Nuclear hormone receptor
    IPR000536 Nuclear hormone receptor, ligand-binding domain
    IPR025900 Nuclear receptor repeat
    IPR033544 Nuclear receptor subfamily 0 group B member 1
Molecular
Reagents
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  • All nucleic 24
    Genomic 6
    cDNA 10
    Primer pair 7
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-33777, MGD-MRK-37435, MGI:108393
References
more
  • Summaries
    All 106
    Developmental Gene Expression 43
    Diseases 2
    Gene Ontology 23
    Phenotypes 19
  • Earliest
    J:32081 Swain A, et al., Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet. 1996 Apr;12(4):404-9
  • Latest
    J:218392 Stickels R, et al., DAX1/NR0B1 was expressed during mammalian gonadal development and gametogenesis before it was recruited to the eutherian X chromosome. Biol Reprod. 2015 Jan;92(1):22

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory