Gene: SNAI1

Basic information

Tag Content
Uniprot ID O95863; B2R842; Q9P113; Q9UBP7; Q9UHH7;
Entrez ID 6615
Genbank protein ID AAD52986.1; BAG36039.1; AAD52996.1; CAB52414.1; AAF32527.1; AAD17332.1; AAH12910.1;
Genbank nucleotide ID NM_005985.3
Ensembl protein ID ENSP00000244050
Ensembl nucleotide ID ENSG00000124216
Gene name Zinc finger protein SNAI1
Gene symbol SNAI1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. Binds to 3 E-boxes of the E-cadherin/CDH1 gene promoter and to the promoters of CLDN7 and KRT8 and, in association with histone demethylase KDM1A which it recruits to the promoters, causes a decrease in dimethylated H3K4 levels and represses transcription (PubMed:20389281, PubMed:20562920). The N-terminal SNAG domain competes with histone H3 for the same binding site on the histone demethylase complex formed by KDM1A and RCOR1, and thereby inhibits demethylation of histone H3 at 'Lys-4' (in vitro) (PubMed:20389281, PubMed:21300290, PubMed:23721412). During EMT, involved with LOXL2 in negatively regulating pericentromeric heterochromatin transcription (By similarity). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (By similarity). Associates with EGR1 and SP1 to mediate tetradecanoyl phorbol acetate (TPA)-induced up-regulation of CDKN2B, possibly by binding to the CDKN2B promoter region 5'-TCACA-3. In addition, may also activate the CDKN2B promoter by itself.
Sequence
MPRSFLVRKP SDPNRKPNYS ELQDSNPEFT FQQPYDQAHL LAAIPPPEIL NPTASLPMLI 60
WDSVLAPQAQ PIAWASLRLQ ESPRVAELTS LSDEDSGKGS QPPSPPSPAP SSFSSTSVSS 120
LEAEAYAAFP GLGQVPKQLA QLSEAKDLQA RKAFNCKYCN KEYLSLGALK MHIRSHTLPC 180
VCGTCGKAFS RPWLLQGHVR THTGEKPFSC PHCSRAFADR SNLRAHLQTH SDVKKYQCQA 240
CARTFSRMSL LHKHQESGCS GCPR 264

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSNAI1504492E1BMI0Bos taurusPredictionMore>>
1:1 orthologSNAI1102172917A0A452EKN0Capra hircusPredictionMore>>
1:1 orthologSNAI1100071451F6Z6C0Equus caballusPredictionMore>>
1:1 orthologSNAI16615O95863Homo sapiensPredictionMore>>
1:1 orthologSnai120613Q02085CPOE13.5, E14.5, E15.5Mus musculusPublicationMore>>
1:1 orthologSNAI1745644K7BGT3Pan troglodytesPredictionMore>>
1:1 orthologSNAI1A0A287B2D0Sus scrofaPredictionMore>>
1:1 orthologSnai1116490Q6AY35Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

loading...

Disease or phenotype associated information

loading...

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specificIDA
GO:0005515 protein bindingIPI
GO:0019900 kinase bindingIPI
GO:0046872 metal ion bindingIEA
GO:0070888 E-box bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISS
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0001649 osteoblast differentiationIEP
GO:0001707 mesoderm formationISS
GO:0001837 epithelial to mesenchymal transitionISS
GO:0001837 epithelial to mesenchymal transitionIDA
GO:0003180 aortic valve morphogenesisTAS
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formationISS
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formationTAS
GO:0010718 positive regulation of epithelial to mesenchymal transitionISS
GO:0010718 positive regulation of epithelial to mesenchymal transitionTAS
GO:0010718 positive regulation of epithelial to mesenchymal transitionIMP
GO:0010957 negative regulation of vitamin D biosynthetic processIDA
GO:0016477 cell migrationIEA
GO:0030335 positive regulation of cell migrationIMP
GO:0031069 hair follicle morphogenesisIEA
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediatorIMP
GO:0045893 positive regulation of transcription, DNA-templatedIMP
GO:0060021 roof of mouth developmentIEA
GO:0060536 cartilage morphogenesisIEA
GO:0060707 trophoblast giant cell differentiationIEA
GO:0060806 negative regulation of cell differentiation involved in embryonic placenta developmentIEA
GO:0060972 left/right pattern formationIEA
GO:0061314 Notch signaling involved in heart developmentISS
GO:0061314 Notch signaling involved in heart developmentTAS
GO:0070828 heterochromatin organizationISS
GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damageIMP
GO:2000810 regulation of bicellular tight junction assemblyIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISS
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmIDA
GO:0005654 nucleoplasmTAS
GO:0005721 pericentric heterochromatinIDA
GO:0005737 cytoplasmISS
GO:0005737 cytoplasmIDA
GO:0005829 cytosolIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1257604 PIP3 activates AKT signalingIEA
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-162582 Signal TransductionTAS
R-HSA-6807070 PTEN RegulationIEA
R-HSA-6807070 PTEN RegulationTAS
R-HSA-8943724 Regulation of PTEN gene transcriptionIEA
R-HSA-8943724 Regulation of PTEN gene transcriptionTAS
R-HSA-9006925 Intracellular signaling by second messengersIEA
R-HSA-9006925 Intracellular signaling by second messengersTAS

Drugs and compounds information

loading...

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0013 ADP-ribosylation
KW-0963 Cytoplasm
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0325 Glycoprotein
KW-1017 Isopeptide bond
KW-0479 Metal-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0677 Repeat
KW-0832 Ubl conjugation
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

PROSITE

PROSITE ID PROSITE Term
PS00028 ZINC_FINGER_C2H2_1
PS50157 ZINC_FINGER_C2H2_2

Pfam

Pfam ID Pfam Term
PF00096 zf-C2H2

Protein-protein interaction

Protein-miRNA interaction