Endometriosis Knowledgebase

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Gene id

6615

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SNAI1 Gene UCSC Ensembl

Aliases

SLUGH2, SNA, SNAH, SNAIL, SNAIL1, dJ710H13.1

Gene name

snail family transcriptional repressor 1

Alternate names

zinc finger protein SNAI1, protein sna, protein snail homolog 1, snail 1 homolog, snail 1 zinc finger protein, snail family zinc finger 1, snail homolog 1,

Gene location

20q13.13 (108248733: 108201742) Exons: 13 NC_000008.11

Gene summary(Entrez)

The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008]

OMIM

604238

Protein Summary

Protein general information

O95863

Name: Zinc finger protein SNAI1 (Protein snail homolog 1) (Protein sna)

Length: 264 Mass: 29,083

Tissue specificity: Expressed in a variety of tissues with the highest expression in kidney. Expressed in mesenchymal and epithelial cell lines. {ECO

Sequence

MPRSFLVRKPSDPNRKPNYSELQDSNPEFTFQQPYDQAHLLAAIPPPEILNPTASLPMLIWDSVLAPQAQPIAWA
SLRLQESPRVAELTSLSDEDSGKGSQPPSPPSPAPSSFSSTSVSSLEAEAYAAFPGLGQVPKQLAQLSEAKDLQA
RKAFNCKYCNKEYLSLGALKMHIRSHTLPCVCGTCGKAFSRPWLLQGHVRTHTGEKPFSCPHCSRAFADRSNLRA
HLQTHSDVKKYQCQACARTFSRMSLLHKHQESGCSGCPR

Structural information

Motifs	Destruction motif.(95-100)
Interpro:	IPR036236 IPR013087
Prosite:	PS00028 PS50157
PDB:	2Y48 3W5K 4QLI
PDBsum:	2Y48 3W5K 4QLI
DIP:	50870
MINT:
STRING:	ENSP00000244050;

Other Databases

GeneCards: SNAI1; Malacards: SNAI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IEA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001649	osteoblast differentiatio n	IEP	biological_process
GO:0001707	mesoderm formation	ISS	biological_process
GO:0001837	epithelial to mesenchymal transition	ISS	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0003198	epithelial to mesenchymal transition involved in e ndocardial cushion format ion	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	ISS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	TAS	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0010957	negative regulation of vi tamin D biosynthetic proc ess	IDA	biological_process
GO:0016477	cell migration	IEA	biological_process
GO:0019900	kinase binding	IPI	molecular_function
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0031069	hair follicle morphogenes is	IEA	biological_process
GO:0043518	negative regulation of DN A damage response, signal transduction by p53 clas s mediator	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0060021	palate development	IEA	biological_process
GO:0060536	cartilage morphogenesis	IEA	biological_process
GO:0060707	trophoblast giant cell di fferentiation	IEA	biological_process
GO:0060806	negative regulation of ce ll differentiation involv ed in embryonic placenta development	IEA	biological_process
GO:0060972	left/right pattern format ion	IEA	biological_process
GO:0061314	Notch signaling involved in heart development	ISS	biological_process
GO:1902230	negative regulation of in trinsic apoptotic signali ng pathway in response to DNA damage	IMP	biological_process
GO:2000810	regulation of bicellular tight junction assembly	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IEA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IEA	molecular_function
GO:0001649	osteoblast differentiatio n	IEP	biological_process
GO:0001707	mesoderm formation	IEA	biological_process
GO:0001707	mesoderm formation	ISS	biological_process
GO:0001837	epithelial to mesenchymal transition	IEA	biological_process
GO:0001837	epithelial to mesenchymal transition	ISS	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0003198	epithelial to mesenchymal transition involved in e ndocardial cushion format ion	IEA	biological_process
GO:0003676	nucleic acid binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	ISS	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007498	mesoderm development	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	TAS	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0010957	negative regulation of vi tamin D biosynthetic proc ess	IDA	biological_process
GO:0016477	cell migration	IEA	biological_process
GO:0019900	kinase binding	IPI	molecular_function
GO:0030335	positive regulation of ce ll migration	IEA	biological_process
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0031069	hair follicle morphogenes is	IEA	biological_process
GO:0043518	negative regulation of DN A damage response, signal transduction by p53 clas s mediator	IMP	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0060021	palate development	IEA	biological_process
GO:0060536	cartilage morphogenesis	IEA	biological_process
GO:0060707	trophoblast giant cell di fferentiation	IEA	biological_process
GO:0060806	negative regulation of ce ll differentiation involv ed in embryonic placenta development	IEA	biological_process
GO:0060972	left/right pattern format ion	IEA	biological_process
GO:0061314	Notch signaling involved in heart development	IEA	biological_process
GO:0061314	Notch signaling involved in heart development	ISS	biological_process
GO:1902230	negative regulation of in trinsic apoptotic signali ng pathway in response to DNA damage	IMP	biological_process
GO:2000810	regulation of bicellular tight junction assembly	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001649	osteoblast differentiatio n	IEP	biological_process
GO:0001707	mesoderm formation	ISS	biological_process
GO:0001837	epithelial to mesenchymal transition	ISS	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	ISS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	TAS	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0010957	negative regulation of vi tamin D biosynthetic proc ess	IDA	biological_process
GO:0019900	kinase binding	IPI	molecular_function
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0043518	negative regulation of DN A damage response, signal transduction by p53 clas s mediator	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0061314	Notch signaling involved in heart development	ISS	biological_process
GO:1902230	negative regulation of in trinsic apoptotic signali ng pathway in response to DNA damage	IMP	biological_process
GO:2000810	regulation of bicellular tight junction assembly	IMP	biological_process

KEGG pathways

hsa04520 Adherens junction

Diseases

Associated diseases	References
Endometriosis	INFBASE26198055

PubMed references

PMID	Condition	Population details	Associated_genes	Abstract
29271982	Endometrio sis		TAFI	Show abstract
28438065	Endometrio sis		TGFB1 Snail CDH1 VIM PCNA	Show abstract
26198055	Endometrio sis	121 (47 control s, 74 patients with endometrio sis)	CDH1 TWIST1 SNAIL SLUG MYC	Show abstract