Barhl1 BarH like homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Barhl1provided by MGI
Official Full Name: BarH like homeobox 1provided by MGI
Primary source: MGI:MGI:1859288
See related: Ensembl:ENSMUSG00000026805 AllianceGenome:MGI:1859288
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: MBH2; Dres115
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific. Acts upstream of or within several processes, including negative regulation of outer hair cell apoptotic process; nervous system development; and sensory perception of sound. Located in nucleus. Is expressed in several structures, including central nervous system; ear; future brain; heart; and urinary system. Orthologous to human BARHL1 (BarH like homeobox 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in whole brain E14.5 (RPKM 4.8), CNS E14 (RPKM 3.9) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.38 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (28797692..28807996, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (28907680..28917984, complement)

Chromosome 2 - NC_000068.8 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?

these findings delineate the detail molecular mechanism of Barhl1 expression regulation in auditory hair cell differentiation.
Title: A Critical E-box in Barhl1 3' Enhancer Is Essential for Auditory Hair Cell Differentiation.
data demonstrate the essential role of Barhl1 during hair cell development and provide a basis for the treatment of Barhl1 mutation-based deafness.
Title: Barhl1 is required for the differentiation of inner ear hair cell-like cells from mouse embryonic stem cells.
Given the important role of Barhl1 in brain development, it was proposed that perturbations of thyroid hormone -mediated transcriptional control of Barhl1 may play a role in the impaired neurodevelopment induced by hypothyroidism.
Title: Barhl1 is directly regulated by thyroid hormone in the developing cerebellum of mice.
expression of Barhl1 decelerates tumor growth both in human and in murine medulloblastomas.
Title: Expression of BARHL1 in medulloblastoma is associated with prolonged survival in mice and humans.
Math1 directly regulates the Mbh genes in CGCs. Furthermore, a dominant-negative form of the Mbh proteins disrupted proper
Title: Transcriptional cascade from Math1 to Mbh1 and Mbh2 is required for cerebellar granule cell differentiation.
High-level, cell-specific Bargl1expression in the inner ear & CNS depends on both its 5' promoter & 3' enhancer sequences. 2 homeoprotein binding motifs can be occupied & activated by Barhl1.
Title: Barhl1 regulatory sequences required for cell-specific gene expression and autoregulation in the inner ear and central nervous system.
Result suggest that Barhl1 is exclusively transcribed in restricted CNS domains at differential transcription levels which suggest a highly regulated transcriptional mechanism.
Title: Differential transcription of Barhl1 homeobox gene in restricted functional domains of the central nervous system suggests a role in brain patterning.
Barhl1 on the other hand was found to act as a transcriptional repressor with repressive activity not restricted to a particular domain of Barhl1.
Title: Transcriptional regulation by Barhl1 and Brn-3c in organ-of-Corti-derived cell lines.
Barhl1 is crucially required for the survival but not for the specification of zonal layer neurons in the superior colliculus
Title: Barhl1 is required for maintenance of a large population of neurons in the zonal layer of the superior colliculus.
These results suggest that Barhl1 plays an essential role in the migration and survival of cerebellar granule cells and precerebellar neurons and functionally link Barhl1 to the NT-3 signaling pathway during cerebellar development
Title: Barhl1 regulates migration and survival of cerebellar granule cells by controlling expression of the neurotrophin-3 gene.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within midbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of outer hair cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of outer hair cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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 sensory perception of sound	IMP Inferred from Mutant Phenotype 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

General protein information

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Preferred Names: barH-like 1 homeobox protein

Names: bar-class homeodomain protein MBH2; barH-related homeobox protein 1

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_001164186.2 → NP_001157658.1 barH-like 1 homeobox protein isoform a

See identical proteins and their annotated locations for NP_001157658.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 5 all encode the same isoform (a).

Source sequence(s)

AL732526

Consensus CDS

CCDS15849.1

UniProtKB/Swiss-Prot

P63157, Q9JK26

Related

ENSMUSP00000109480.2, ENSMUST00000113849.8

Conserved Domains (1) summary

pfam00046
Location:182 → 235

Homeobox; Homeobox domain
NM_001355434.2 → NP_001342363.1 barH-like 1 homeobox protein isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 5 all encode the same isoform (a).

Source sequence(s)

AL732526

Consensus CDS

CCDS15849.1

UniProtKB/Swiss-Prot

P63157, Q9JK26

Related

ENSMUSP00000109478.2, ENSMUST00000113847.3

Conserved Domains (1) summary

pfam00046
Location:182 → 235

Homeobox; Homeobox domain
NM_001355435.2 → NP_001342364.1 barH-like 1 homeobox protein isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AL732526

UniProtKB/TrEMBL

Q8BJ04

Related

ENSMUST00000124059.2

Conserved Domains (1) summary

pfam00046
Location:39 → 91

Homeobox; Homeobox domain
NM_001421536.1 → NP_001408465.1 barH-like 1 homeobox protein isoform a

Status: VALIDATED

Source sequence(s)

AL732526

UniProtKB/Swiss-Prot

P63157, Q9JK26
NM_001421537.1 → NP_001408466.1 barH-like 1 homeobox protein isoform c

Status: VALIDATED

Source sequence(s)

AL732526
NM_019446.5 → NP_062319.1 barH-like 1 homeobox protein isoform a

See identical proteins and their annotated locations for NP_062319.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, 3, and 5 all encode the same isoform (a).

Source sequence(s)

AL732526

Consensus CDS

CCDS15849.1

UniProtKB/Swiss-Prot

P63157, Q9JK26

Related

ENSMUSP00000053147.3, ENSMUST00000050776.9

Conserved Domains (1) summary

pfam00046
Location:182 → 235

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_000068.8 Reference GRCm39 C57BL/6J

Range

28797692..28807996 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251885.1 → XP_030107745.1 barH-like 1 homeobox protein isoform X1

UniProtKB/Swiss-Prot

P63157, Q9JK26

Conserved Domains (1) summary

pfam00046
Location:182 → 235

Homeobox; Homeobox domain
XM_030251886.1 → XP_030107746.1 barH-like 1 homeobox protein isoform X1

UniProtKB/Swiss-Prot

P63157, Q9JK26

Conserved Domains (1) summary

pfam00046
Location:182 → 235

Homeobox; Homeobox domain
XM_030251884.1 → XP_030107744.1 barH-like 1 homeobox protein isoform X1

UniProtKB/Swiss-Prot

P63157, Q9JK26

Conserved Domains (1) summary

pfam00046
Location:182 → 235

Homeobox; Homeobox domain
XM_011239138.3 → XP_011237440.1 barH-like 1 homeobox protein isoform X1

See identical proteins and their annotated locations for XP_011237440.1

UniProtKB/Swiss-Prot

P63157, Q9JK26

Conserved Domains (1) summary

pfam00046
Location:182 → 235

Homeobox; Homeobox domain