Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

SOX1

contributors: mct - updated : 01-12-2021

HGNC name	SRY (sex determining region Y)-box 1
HGNC id	11189

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	13q34      Physical location : 112.721.912 - 112.726.020
Synonym name	SRY-related HMG-box gene 1

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	4.56 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005986 1 - 4558 NP_005977 - 391 - 2020 33376722

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain cerebellum     Homo sapiens Adult   brain hindbrain cerebellum     Homo sapiens Fetal Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central     specific Homo sapiens Adult

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	moderately in brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an high mobility group (HMG) domain
	and a transactivation domain in the carboxyl terminus (transcription activation), required for the interactions

HOMOLOGY

interspecies	homolog to murine Sox1
	homolog to C.elegans T28h11.1

Homologene

FAMILY

SRY-related HMG box family of transcription factors

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	modulator of LINE retroposons promoter activity
	involved in neural and lens development
	works through multiple independent pathways to promote neuronal cell fate determination and differentiation
	functional roles of neural patterning factors, NOTCH signalling and SOX1 during gliogenesis
	SOX1 plays a key role in the suppression of neurogenic cell divisions
	transcription factor involved in the regulation of embryonic development and cell fate determination
	may function as a tumor suppressor by interfering with Wnt/CTNNB1 signaling in the development of hepatocellular carcinoma
	SOX1 marks an activated neural stem/progenitor cell in the hippocampus
	can function as a tumor suppressor partly by interfering with Wnt/CTNNB1signaling in cervical cancer
	possible role for SOX1-OT in regulating SOX1 expression, as previously observed for SOX2
	role of SOX1 in early neural regionalization
	SOX1 is a key regulator of neural stem cell development, acting to keep neural stem cells (NSCs) in an undifferentiated state

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	neuronal development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	binds directly to the HES1 promoter and suppresses HES1 transcription, thus attenuating Notch signaling
	also binds to beta-catenin and suppresses beta-catenin-mediated TCF/LEF signaling, thus potentially attenuating the wnt signaling pathway
	SOX1 regulates the size of the cortical neural progenitor (NP) pool via suppression of PROX1-mediated neurogenic cell divisions
	SOX1 binds to the distal region of GBX2 to activate its expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         epigenetically silenced in the majority of NSCLC (non-small cell lung cancer)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	detection of PAX1/SOX1/ZNF582 methylation status may serve as a promising biomarker for ESCC screening and diagnosis of Esophageal squamous cell carcinoma (ESCC)
Therapy target

ANIMAL & CELL MODELS