Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sohlh1provided by MGI
Official Full Name: spermatogenesis and oogenesis specific basic helix-loop-helix 1provided by MGI
Primary source: MGI:MGI:2684956
See related: Ensembl:ENSMUSG00000059625 AllianceGenome:MGI:2684956
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: Gm110; Nohlh
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and protein dimerization activity. Involved in oocyte differentiation; positive regulation of transcription by RNA polymerase II; and spermatogenesis. Acts upstream of or within oogenesis; ovarian follicle development; and positive regulation of DNA-templated transcription. Located in cytoplasm and male germ cell nucleus. Is expressed in gonad and hindlimb long bone. Human ortholog(s) of this gene implicated in ovarian dysgenesis 5 and spermatogenic failure 32. Orthologous to human SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 3.3) and ovary adult (RPKM 1.5) See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 18.21 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (25733007..25737347, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (25842995..25847248, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in micedagger.
Title: Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice†.
Single cell RNA-sequencing identified Dec2 as a suppressive factor for spermatogonial differentiation by inhibiting Sohlh1 expression.
Title: Single cell RNA-sequencing identified Dec2 as a suppressive factor for spermatogonial differentiation by inhibiting Sohlh1 expression.
findings substantiate a major role for FIGLA, LHX8 and SOHLH1 as multifunctional regulators of networks necessary for oocyte maintenance and differentiation during early folliculogenesis.
Title: FIGLA, LHX8 and SOHLH1 transcription factor networks regulate mouse oocyte growth and differentiation.
The data suggest that SOHLH1 transcriptionally regulates the expression of many target genes critical for the meiotic phase of spermatogenesis.
Title: Sohlh1 is required for synaptonemal complex formation by transcriptionally regulating meiotic genes during spermatogenesis in mice.
The absence of Sohlh1 may affect primordial follicle activation in mouse ovaries via downregulation of Kit and inhibition of the KIT/PI3K/AKT pathway
Title: Primordial follicle activation is affected by the absence of Sohlh1 in mice.
Sohlh1 and Sohlh2 are essential regulators of oocyte differentiation but do not affect meiosis I.
Title: Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I.
SOHLH1 and SOHLH2 were able to directly and cooperatively repress STRA8 expression in cell lines in vitro through binding to its promoter.
Title: SOHLH1 and SOHLH2 directly down-regulate STIMULATED BY RETINOIC ACID 8 (STRA8) expression.
Our findings suggest that an SOHLH2/SOHLH1/SP1 ternary complex autonomously and cooperatively regulates Sohlh1 gene transcription through juxtaposed E- and GC-boxes during early spermatogenesis and oogenesis.
Title: Auto-regulation of the Sohlh1 gene by the SOHLH2/SOHLH1/SP1 complex: implications for early spermatogenesis and oogenesis.
SOHLH1 and SOHLH2 directly stimulate Kit transcription in postnatal spermatogonia, thus activating the signaling involved in spermatogonia differentiation and spermatogenetic progression.
Title: SOHLH1 and SOHLH2 control Kit expression during postnatal male germ cell development.
SOHLH1 and SOHLH2 suppress genes involved in spermatogonial stem cell maintenance, and induce genes important for spermatogonial differentiation.
Title: SOHLH1 and SOHLH2 coordinate spermatogonial differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

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

General gene information

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Markers

Sohlh1 (e-PCR), detects polymorphism
- UniSTS:525719

Sohlh1 (e-PCR), detects polymorphism
- UniSTS:496542

NoName (e-PCR)
- UniSTS:493262

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	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 cis-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	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within oogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ovarian follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
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: spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1

Names: helix-loop-helix protein NOHLH

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_001001714.2 → NP_001001714.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_001001714.1

Status: VALIDATED

Source sequence(s)

AL731682

Consensus CDS

CCDS15793.1

UniProtKB/Swiss-Prot

B2RTA1, Q6IUP1

Related

ENSMUSP00000076253.7, ENSMUST00000076989.7
NM_001413658.1 → NP_001400587.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AL731682

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

25733007..25737347 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497875.4 → XP_006497938.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X1
XM_006497876.3 → XP_006497939.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X2