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Esx1 Gene Detail
Summary
  • Symbol
    Esx1
  • Name
    extraembryonic, spermatogenesis, homeobox 1
  • Synonyms
    Spx1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096388
    NCBI Gene: 13984
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:136016146-136022832 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 59.10 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    209 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1096388
 protein coding gene ChrX:136016146-136022880 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036114
 protein coding gene ChrX:134544283-134552399 (-)
A/J MGP_AJ_G0036093
 protein coding gene ChrX:133958498-133962412 (-)
AKR/J MGP_AKRJ_G0036017
 protein coding gene ChrX:138227817-138239141 (-)
BALB/cJ MGP_BALBcJ_G0036082
 protein coding gene ChrX:132356996-132366129 (-)
C3H/HeJ MGP_C3HHeJ_G0035791
 protein coding gene ChrX:134626444-134633317 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036607
 protein coding gene ChrX:138493747-138502233 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033432
 protein coding gene ChrX:125865106-125871878 (-)
CAST/EiJ MGP_CASTEiJ_G0035082
 protein coding gene ChrX:115382191-115389352 (-)
CBA/J MGP_CBAJ_G0035768
 protein coding gene ChrX:142720736-142730907 (-)
DBA/2J MGP_DBA2J_G0035925
 protein coding gene ChrX:133230317-133236293 (-)
FVB/NJ MGP_FVBNJ_G0035859
 protein coding gene ChrX:132454962-132459378 (-)
LP/J MGP_LPJ_G0036017
 protein coding gene ChrX:135544166-135551006 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035896
 protein coding gene ChrX:150035792-150042374 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036643
 protein coding gene ChrX:133907655-133913872 (-)
PWK/PhJ MGP_PWKPhJ_G0034775
 protein coding gene ChrX:112392462-112400366 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034602
 protein coding gene ChrX:115973030-115984360 (-)
WSB/EiJ MGP_WSBEiJ_G0035217
 protein coding gene ChrX:132249441-132253846 (-)



Homology
more
  • Human Ortholog
    ESX1, ESX homeobox 1
  • Vertebrate Orthologs
    1
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ESX1, ESX homeobox 1
  • Synonyms
    ESX1L, ESXR1
  • Links
    NCBI Gene ID: 80712
    neXtProt AC: NX_Q8N693
    UniProt: Q8N693

  • Chr Location
    Xq22.2; chrX:104250038-104254933 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    1 phenotype reference
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.
Hemizygous males and heterozygous females who inherit a null targeted mutation from their mothers exhibit defects in the labyrinthine layer of the placenta resulting in impaired vascularization and reduced birth weights. Adult mutant weights are normal.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    4
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
non-membrane-bounded 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
    982
  • Tissues
    90
  • cDNA Data
    9
  • Literature Summary
    29
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023443 Ensembl Gene Model | MGI Sequence Detail 6687 C57BL/6J ±  kb
    transcript ENSMUST00000074698 Ensembl | MGI Sequence Detail 1600 Not Applicable  
    polypeptide ENSMUSP00000074262 Ensembl | MGI Sequence Detail 382 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 4
      cDNA 10
      Primer pair 3
      Other 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 29
      Gene Ontology 4
      Phenotypes 1
    • Earliest
      J:42032 Branford WW, et al., Spx1, a novel X-linked homeobox gene expressed during spermatogenesis. Mech Dev. 1997 Jul;65(1-2):87-98
    • Latest
      J:330219 Solmonson A, et al., Compartmentalized metabolism supports midgestation mammalian development. Nature. 2022 Apr;604(7905):349-353
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory