Sox1 SRY (sex determining region Y)-box 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sox1provided by MGI
Official Full Name: SRY (sex determining region Y)-box 1provided by MGI
Primary source: MGI:MGI:98357
See related: Ensembl:ENSMUSG00000096014 AllianceGenome:MGI:98357
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: Sox-1
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in interneuron migration; regulation of oligodendrocyte differentiation; and regulation of transcription by RNA polymerase II. Acts upstream of or within cellular response to leukemia inhibitory factor; generation of neurons; and lens morphogenesis in camera-type eye. Located in nucleus. Is expressed in several structures, including central nervous system; eye; genitourinary system; large intestine; and neural ectoderm. Orthologous to human SOX1 (SRY-box transcription factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 5.73 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (12445519..12449555)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (12395519..12399555)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study shows that Sox1 is a master cell identity factor: the induction of its endogenous gene copy restores the neuronal differentiation potential of glial progenitor cells. Moreover, chromatin features, in particular, DNA methylation at its promoter, tightly control the capability of Sox1 to be trans-activated.
Title: Targeted removal of epigenetic barriers during transcriptional reprogramming.
Optimal SOXB1 levels are critical for each pluripotent state and for cell fate decisions during exit from naive pluripotency.
Title: Distinct SoxB1 networks are required for naïve and primed pluripotency.
These results demonstrate a novel role for SOX2 in glial process outgrowth and adhesion, and provide new insights into the essential role Muller glia play in the development of retinal cytoarchitecture.
Title: Sox2-Deficient Müller Glia Disrupt the Structural and Functional Maturation of the Mammalian Retina.
Sox10 overexpression causes mammary cells to undergo a mesenchymal transition.
Title: Sox10 Regulates Stem/Progenitor and Mesenchymal Cell States in Mammary Epithelial Cells.
Sox1 lineage labels activated neural stem/progenitor cells in the adult mouse hippocampus.
Title: Sox1 marks an activated neural stem/progenitor cell in the hippocampus.
Data show that a neural crest cells (NCCs) population that is not derived from Sox1(+) dorsal neuroepithelial cells but are derived from Sox1(-) cells differentiate into a significant population of melanocytes in the skin.
Title: Dual origin of melanocytes defined by Sox1 expression and their region-specific distribution in mammalian skin.
genes induced in a SoxB1-dependent manner appear to constitute repressive gene regulatory networks that are directly interlinked.
Title: SoxB1-driven transcriptional network underlies neural-specific interpretation of morphogen signals.
Sox1, a member of the SoxB1 family of transcription factors, is expressed in a subset of radial astrocytes
Title: Sox1 marks an activated neural stem/progenitor cell in the hippocampus.
Sox1 regulates the size of the cortical neural progenitor pool via suppression of neurogenic cell divisions.
Title: Sox1 maintains the undifferentiated state of cortical neural progenitor cells via the suppression of Prox1-mediated cell cycle exit and neurogenesis.
Genetic fate mapping and loss-of-function analysis show that transcription factor Sox1 is expressed in, and required for, a third type of p2-derived interneuron, which has been named V2c.
Title: Sox1 is required for the specification of a novel p2-derived interneuron subtype in the mouse ventral spinal cord.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Targeted (6) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sox1 (e-PCR), detects polymorphism
- UniSTS:547369

Sox1 (e-PCR), detects polymorphism
- UniSTS:471099

Sox1 (e-PCR), detects polymorphism
- UniSTS:496717

Sox1 (e-PCR), detects polymorphism
- UniSTS:144481

Sox1 (e-PCR), detects polymorphism
- UniSTS:144482

PMC304098P3 (e-PCR)
- UniSTS:272522

BB176347 (e-PCR)
- UniSTS:185750

X94126 (e-PCR)
- UniSTS:125892

Sox1 (e-PCR), detects polymorphism
- UniSTS:265429

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	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 neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interneuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
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	IEA Inferred from Electronic Annotation more info
involved_in regulation of oligodendrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventral spinal cord interneuron specification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
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: transcription factor SOX-1

Names: SRY-box containing gene 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_009233.3 → NP_033259.2 transcription factor SOX-1

See identical proteins and their annotated locations for NP_033259.2

Status: VALIDATED

Source sequence(s)

AC102525

Consensus CDS

CCDS57605.1

UniProtKB/Swiss-Prot

P53783, Q80XF2

Related

ENSMUSP00000137203.2, ENSMUST00000180353.2

Conserved Domains (1) summary

cd01388
Location:50 → 121

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...