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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:85235381-85239553 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 39.67 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    153 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352460
 protein coding gene ChrX:85235370-85239553 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035892
 protein coding gene ChrX:82297454-82301697 (+)
A/J MGP_AJ_G0035877
 protein coding gene ChrX:82383970-82390692 (+)
AKR/J MGP_AKRJ_G0035795
 protein coding gene ChrX:84587184-84596090 (+)
BALB/cJ MGP_BALBcJ_G0035858
 protein coding gene ChrX:81115909-81120178 (+)
C3H/HeJ MGP_C3HHeJ_G0035568
 protein coding gene ChrX:82589463-82593646 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036389
 protein coding gene ChrX:84797728-84803293 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033220
 protein coding gene ChrX:81249978-81254182 (+)
CAST/EiJ MGP_CASTEiJ_G0034857
 protein coding gene ChrX:67547114-67551266 (+)
CBA/J MGP_CBAJ_G0035543
 protein coding gene ChrX:87111577-87115725 (+)
DBA/2J MGP_DBA2J_G0035698
 protein coding gene ChrX:81774794-81778955 (+)
FVB/NJ MGP_FVBNJ_G0035637
 protein coding gene ChrX:81190670-81195139 (+)
LP/J MGP_LPJ_G0035787
 protein coding gene ChrX:83084251-83088404 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035674
 protein coding gene ChrX:90647990-90656467 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036416
 protein coding gene ChrX:82001676-82005863 (+)
PWK/PhJ MGP_PWKPhJ_G0034555
 protein coding gene ChrX:65579827-65584388 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034385
 protein coding gene ChrX:68481115-68493030 (+)
WSB/EiJ MGP_WSBEiJ_G0034996
 protein coding gene ChrX:80913225-80918345 (+)



Homology
more
  • Human Ortholog
    NR0B1, nuclear receptor subfamily 0 group B member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NR0B1, nuclear receptor subfamily 0 group B member 1
  • Synonyms
    AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
  • Links
    NCBI Gene ID: 190
    neXtProt AC: NX_P51843
    UniProt: P51843

  • Chr Location
    Xp21.2; chrX:30304206-30309390 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nr0b1 mouse models; 2 with human NR0B1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    39 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    30 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.
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
less
  • All GO Annotations
    75
  • GO References
    25
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1081
  • Tissues
    232
  • cDNA Data
    12
  • Literature Summary
    53
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11614 NCBI Gene Model | MGI Sequence Detail 4173 C57BL/6J ±  kb
    transcript NM_007430 RefSeq | MGI Sequence Detail 1811 C57BL/6  
    polypeptide Q61066 UniProt | EBI | MGI Sequence Detail 472 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 6
      cDNA 13
      Primer pair 8
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-33777, MGD-MRK-37435, MGI:108393
    References
    more
    • Summaries
      All 132
      Developmental Gene Expression 53
      Diseases 2
      Gene Ontology 25
      Phenotypes 30
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory