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Hesx1 Gene Detail
Summary
  • Symbol
    Hesx1
  • Name
    homeobox gene expressed in ES cells
  • Synonyms
    HES-1, Rpx
  • Feature Type
    protein coding gene
  • IDs
    MGI:96071
    NCBI Gene: 15209
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:26716375-26724286 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 16.09 cM, cytoband A3-B
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    96 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96071
 protein coding gene Chr14:26716373-26724286 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021088
 protein coding gene Chr14:19992378-19994375 (+)
A/J MGP_AJ_G0021037
 protein coding gene Chr14:19202595-19204592 (+)
AKR/J MGP_AKRJ_G0021014
 protein coding gene Chr14:20247471-20249468 (+)
BALB/cJ MGP_BALBcJ_G0021040
 protein coding gene Chr14:19318773-19320770 (+)
C3H/HeJ MGP_C3HHeJ_G0020824
 protein coding gene Chr14:20106010-20108007 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021473
 protein coding gene Chr14:20824291-20826258 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019036
 protein coding gene Chr14:19350125-19352175 (+)
CAST/EiJ MGP_CASTEiJ_G0020348
 protein coding gene Chr14:19731434-19741159 (+)
CBA/J MGP_CBAJ_G0020790
 protein coding gene Chr14:21644553-21646550 (+)
DBA/2J MGP_DBA2J_G0020913
 protein coding gene Chr14:19288543-19290510 (+)
FVB/NJ MGP_FVBNJ_G0020896
 protein coding gene Chr14:19247081-19249068 (+)
LP/J MGP_LPJ_G0020981
 protein coding gene Chr14:20276423-20278420 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020922
 protein coding gene Chr14:21020884-21022881 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021506
 protein coding gene Chr14:20008473-20016161 (+)
PWK/PhJ MGP_PWKPhJ_G0020097
 protein coding gene Chr14:18686469-18688419 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019920
 protein coding gene Chr14:19505848-19507823 (+)
WSB/EiJ MGP_WSBEiJ_G0020404
 protein coding gene Chr14:20056106-20058101 (+)



Homology
more
  • Human Ortholog
    HESX1, HESX homeobox 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HESX1, HESX homeobox 1
  • Synonyms
    ANF, CPHD5, RPX
  • Links
    NCBI Gene ID: 8820
    neXtProt AC: NX_Q9UBX0
    UniProt: Q9UBX0

  • Chr Location
    3p14.3; chr3:57197838-57227615 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Hesx1 mouse models; 1 with human HESX1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    56 phenotypes from 7 alleles in 10 genetic backgrounds
    8 phenotypes from multigenic genotypes
    26 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.
Homozygous mice show significant perinatal and postnatal lethality. Deficiency is manifested as brain, endocrine/exocrine and sensory organ developmental abnormalities in many embryos. Most mice surviving past birth display eye defects such as anophthalmia or microphthalmia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    57
  • GO References
    21
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
    1121
  • Tissues
    258
  • cDNA Data
    19
  • Literature Summary
    129
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15209 NCBI Gene Model | MGI Sequence Detail 7912 C57BL/6J ±  kb
    transcript NM_001424469 RefSeq | MGI Sequence Detail 1067 C57BL/6  
    polypeptide Q61658 UniProt | EBI | MGI Sequence Detail 185 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      Genomic 2
      cDNA 22
      Primer pair 11
      Other 17

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10694, MGD-MRK-14207
    References
    more
    • Summaries
      All 181
      Developmental Gene Expression 129
      Diseases 3
      Gene Ontology 21
      Phenotypes 26
    • Earliest
      J:3298 Thomas PQ, et al., HES-1, a novel homeobox gene expressed by murine embryonic stem cells, identifies a new class of homeobox genes. Nucleic Acids Res. 1992 Nov 11;20(21):5840
    • Latest
      J:334460 Bando H, et al., Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man. Hum Mol Genet. 2023 Jan 13;32(3):367-385
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory