Hmx1 H6 homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hmx1provided by MGI
Official Full Name: H6 homeobox 1provided by MGI
Primary source: MGI:MGI:107178
See related: Ensembl:ENSMUSG00000067438 AllianceGenome:MGI:107178
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: Nkx5-3
Summary: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Is expressed in several structures, including branchial arch; cranial ganglion; eye; genitourinary system; and peripheral nervous system. Used to study oculoauricular syndrome. Human ortholog(s) of this gene implicated in oculoauricular syndrome. Orthologous to human HMX1 (H6 family homeobox 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 5.9), CNS E11.5 (RPKM 1.0) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 18.14 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (35546124..35557629)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (35388780..35400285)

Chromosome 5 - NC_000071.7 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?

Hoxa2, Meis and Pbx proteins act cooperatively on the ECR, via a core 32 bp sequence, to regulate Hmx1 expression.
Title: A distal 594 bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex.
EPHA6, a gene implicated in retinal axon guidance, is one of HMX1 targets in eye development.
Title: A dimerized HMX1 inhibits EPHA6/epha4b in mouse and zebrafish retinas.
The Hmx1-miR-204/miR-211 signaling axis contributes to immune suppression in candidemia-induced kidney dysfunction.
Title: MiR-204/miR-211 downregulation contributes to candidemia-induced kidney injuries via derepression of Hmx1 expression.
Gene expression analysis between wild-type and dmbo mice allowed us to develop a predictive promoter model that identified the first target genes of Hmx1.
Title: Identification of HMX1 target genes: a predictive promoter model approach.
The homeobox transcription factor HMX1 represses Tlx3 and Ret, induces TrkA and maintains tyrosine hydroxylase (Th) expression in precursors, thus driving segregation of the noradrenergic sympathetic fate.
Title: The transcription factor Hmx1 and growth factor receptor activities control sympathetic neurons diversification.
Loss of Hmx1 expression results in marked defects in the geniculate (VII) ganglion
Title: Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion.
The mutant Hmx1 alleles represent the first mouse models of a recently-discovered Oculo-Auricular syndrome caused by mutation of the orthologous human gene.
Title: Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Spontaneous (1) 1 citation
Targeted (2) 1 citation

General gene information

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Markers

Hmx1 (e-PCR), detects polymorphism
- UniSTS:143355

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: homeobox protein HMX1

Names: H6 homeo box 1; homeobox protein H6

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.

mRNA and Protein(s)

NM_001363144.2 → NP_001350073.1 homeobox protein HMX1 isoform 2

Status: VALIDATED

Source sequence(s)

AC152824

UniProtKB/TrEMBL

A0A087WPM8

Related

ENSMUSP00000139840.2, ENSMUST00000172923.2
NM_010445.4 → NP_034575.1 homeobox protein HMX1 isoform 1

See identical proteins and their annotated locations for NP_034575.1

Status: VALIDATED

Source sequence(s)

AC152824

Consensus CDS

CCDS19228.1

UniProtKB/Swiss-Prot

O70218

Related

ENSMUSP00000084958.3, ENSMUST00000087674.6

Conserved Domains (1) summary

pfam00046
Location:194 → 247

Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

35546124..35557629

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030254166.1 → XP_030110026.1 homeobox protein HMX1 isoform X1

Conserved Domains (1) summary

pfam00046
Location:174 → 228

Homeobox; Homeobox domain