SOX1 SRY-box transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOX1provided by HGNC
Official Full Name: SRY-box transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:11189
See related: Ensembl:ENSG00000182968 MIM:602148; AllianceGenome:HGNC:11189
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (112067149..112071706)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (111310637..111315193)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (112721463..112726020)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcriptional Circuitry of NKX2-1 and SOX1 Defines an Unrecognized Lineage Subtype of Small-Cell Lung Cancer.
Title: Transcriptional Circuitry of NKX2-1 and SOX1 Defines an Unrecognized Lineage Subtype of Small-Cell Lung Cancer.
Is hypermethylation of SOX1 gene an independent prognostic marker in surgically resected non-small cell lung cancer?
Title: Is hypermethylation of SOX1 gene an independent prognostic marker in surgically resected non-small cell lung cancer?
Study of the influence of NGF-beta gene overexpression in human mesenchymal stem cells on the expression level of SOX1 and neural pathway genes.
Title: Study of the influence of NGF-β gene overexpression in human mesenchymal stem cells on the expression level of SOX1 and neural pathway genes.
Discordant SOX-1 antibodies results in paraneoplastic Lambert-Eaton syndrome diagnosis by the clinical laboratory.
Title: Discordant SOX-1 antibodies results in paraneoplastic Lambert-Eaton syndrome diagnosis by the clinical laboratory.
In Silico Identification of SOX1 Post-Translational Modifications Highlights a Shared Protein Motif.
Title: In Silico Identification of SOX1 Post-Translational Modifications Highlights a Shared Protein Motif.
SOX1 and PAX1 Are Hypermethylated in Cervical Adenocarcinoma and Associated with Better Prognosis.
Title: SOX1 and PAX1 Are Hypermethylated in Cervical Adenocarcinoma and Associated with Better Prognosis.
SOX1 promotes differentiation of nasopharyngeal carcinoma cells by activating retinoid metabolic pathway.
Title: SOX1 promotes differentiation of nasopharyngeal carcinoma cells by activating retinoid metabolic pathway.
The methylation levels ofPAX1, SOX1 and ZNF582 genes were all higher in cancer tissues.
Title: Aberrant DNA methylation of PAX1, SOX1 and ZNF582 genes as potential biomarkers for esophageal squamous cell carcinoma.
a methylation-specific expression gene of cervical adenocarcinoma
Title: Tumor-suppressor gene SOX1 is a methylation-specific expression gene in cervical adenocarcinoma.
Data show that high levels of SRY-box transcription factor 1 (SOX1) observed in a subset of patients correlate with lower overall survival, and suggest SOX1 as a potential target in the glioma stem cells (GSCs) population in glioblastoma.
Title: Oncogenic activity of SOX1 in glioblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S1177 (e-PCR)
- UniSTS:11779

WI-13756 (e-PCR)
- UniSTS:74506

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

PMC304098P3 (e-PCR)
- UniSTS:272522

RH104424 (e-PCR)
- UniSTS:98749

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement 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 factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in chromatin organization	NAS Non-traceable Author Statement more info	PubMed
involved_in forebrain neuron development	IEA Inferred from Electronic Annotation more info
involved_in interneuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in lens morphogenesis in camera-type eye	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventral spinal cord interneuron specification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transcription factor SOX-1

Names: SRY (sex determining region Y)-box 1; SRY-box 1; SRY-related HMG-box 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_005986.3 → NP_005977.2 transcription factor SOX-1

See identical proteins and their annotated locations for NP_005977.2

Status: REVIEWED

Source sequence(s)

AL138691

Consensus CDS

CCDS9523.1

UniProtKB/Swiss-Prot

O00570, Q5W0Q1

Related

ENSP00000330218.1, ENST00000330949.3

Conserved Domains (1) summary

cd01388
Location:50 → 121

SOX-TCF_HMG-box; 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 ...