Hesx1 homeobox gene expressed in ES cells [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hesx1provided by MGI
Official Full Name: homeobox gene expressed in ES cellsprovided by MGI
Primary source: MGI:MGI:96071
See related: Ensembl:ENSMUSG00000040726 AllianceGenome:MGI:96071
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rpx; HES-1
Summary: Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within with a negative effect on canonical Wnt signaling pathway. Acts upstream of or within several processes, including ERK1 and ERK2 cascade; cell surface receptor signaling pathway; and endocrine system development. Located in nucleus. Is expressed in several structures, including early conceptus; embryo ectoderm; embryo endoderm; genitourinary system; and thymus. Used to study hypopituitarism and septooptic dysplasia. Human ortholog(s) of this gene implicated in septooptic dysplasia. Orthologous to human HESX1 (HESX homeobox 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E14 (RPKM 3.7), liver E14.5 (RPKM 3.3) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 A3; 14 16.09 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (26716322..26724286)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (26994419..27002329)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

our data provide evidence for a novel role of Hesx1 in the control of self-renewal and maintenance of the undifferentiated state in ESCs and mouse embryos.
Title: Genetic Deletion of Hesx1 Promotes Exit from the Pluripotent State and Impairs Developmental Diapause.
Hesx1 plays a significant role in sustaining pluripotency in embryonic stem cells.Hesx1 transcriptionally suppresses differentiation-related genes.
Title: Hesx1 enhances pluripotency by working downstream of multiple pluripotency-associated signaling pathways.
Wnt inhibition during the first day has larger impact on the activation of Hesx1 and Six3, suggesting that in embryos Wnt inhibition caused by Dkk1 contributes greatly in the establishment of the anterior forebrain precursor.
Title: Dkk1-dependent inhibition of Wnt signaling activates Hesx1 expression through its 5' enhancer and directs forebrain precursor development.
Variability in Hes1 expression therefore helps to explain why STAT3 responsiveness varies between individual ES cells, and this in turn helps to explain why pluripotent cells commit to differentiate asynchronously..
Title: Hes1 desynchronizes differentiation of pluripotent cells by modulating STAT3 activity.
Transcriptional profiling of anterior forebrain precursors from mouse embryos expressing eGFP from the Hesx1 locus provides molecular evidence supporting a novel function of Hesx1 in mediating repression of Wnt/beta-catenin target activation.
Title: HESX1- and TCF3-mediated repression of Wnt/β-catenin targets is required for normal development of the anterior forebrain.
Studies suggest that TLE1 and TLE3 might also play roles independent of HESX1 by interacting with other transcription factors like PROP1.
Title: Corepressors TLE1 and TLE3 interact with HESX1 and PROP1.
Data suggest that formation of a heterodimer between HESX1 and PROP1 allows HESX1 to become active, and that PROP1 then replaces HESX1 to advance to the middle stage of pituitary development.
Title: Pituitary homeodomain transcription factors HESX1 and PROP1 form a heterodimer on the inverted TAAT motif.
Hesx1(I26T/I26T) embryos show pituitary defects comparable with Hesx1(-/-) mouse mutants, with frequent occurrence of ocular abnormalities, although the telencephalon develops normally
Title: Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.
Haploinsufficiency of both Six3 and Hesx1 leads to severe pituitary dysmorphogenesis during development, which results in hypopituitarism with dramatic postnatal growth retardation.
Title: Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development.
establish a link between HESX1 and DNMT1 and suggest a novel mechanism for the repressing properties of HESX1
Title: DNMT1 interacts with the developmental transcriptional repressor HESX1.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hesx1 (e-PCR), detects polymorphism
- UniSTS:158732

NoName (e-PCR)
- UniSTS:491323

Hesx1 (e-PCR), detects polymorphism
- UniSTS:238162

Hesx1 (e-PCR), detects polymorphism
- UniSTS:256675

Hesx1 (e-PCR), detects polymorphism
- UniSTS:547239

Hesx1 (e-PCR), detects polymorphism
- UniSTS:526020

U40720 (e-PCR)
- UniSTS:163547

Hesx1 (e-PCR), detects polymorphism
- UniSTS:143336

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_negative_effect canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to cadmium ion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within forebrain development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within_negative_effect gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gonad development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within leukemia inhibitory factor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nose development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within otic vesicle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pituitary gland development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within pituitary gland development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pituitary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pituitary gland development	ISO Inferred from Sequence Orthology more info
involved_in pituitary gland development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thyroid gland development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: homeobox expressed in ES cells 1

Names: anterior-restricted homeobox protein; homeo box gene expressed in ES cells; homeobox protein ANF; rathke pouch homeo box

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.