Human Gene SNAI1 (ENST00000244050.3_4) from GENCODE V47lift37
  Description: snail family transcriptional repressor 1 (from RefSeq NM_005985.4)
Gencode Transcript: ENST00000244050.3_4
Gencode Gene: ENSG00000124216.4_7
Transcript (Including UTRs)
   Position: hg19 chr20:48,599,517-48,605,423 Size: 5,907 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr20:48,599,597-48,604,593 Size: 4,997 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:48,599,517-48,605,423)mRNA (may differ from genome)Protein (264 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SNAI1_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein SNAI1; AltName: Full=Protein snail homolog 1; Short=Protein sna;
FUNCTION: Involved in the epithelial to mesenchymal transition (EMT) and formation and maintenance of embryonic mesoderm (By similarity). Binds to 3 E-boxes of the E-cadherin gene promoter and represses its transcription.
SUBUNIT: Interacts with FBXL14 and GSK3B. Interacts with BTRC; interaction occurs when it is phosphorylated on the destruction motif. Interacts (via SNAG domain) with WTIP (via LIM domains) (By similarity). Interacts (via SNAG domain) with LIMD1 (via LIM domains), and AJUBA (via LIM domains). Interacts with LOXL2 and LOXL3.
INTERACTION: P49841:GSK3B; NbExp=4; IntAct=EBI-1045459, EBI-373586; O60341:KDM1A; NbExp=4; IntAct=EBI-1045459, EBI-710124; P09874:PARP1; NbExp=10; IntAct=EBI-1045459, EBI-355676;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Once phosphorylated (probably on Ser-107, Ser-111, Ser-115 and Ser-119) it is exported from the nucleus to the cytoplasm where subsequent phosphorylation of the destruction motif and ubiquitination involving BTRC occurs.
TISSUE SPECIFICITY: Expressed in a variety of tissues with the highest expression in kidney. Expressed in mesenchymal and epithelial cell lines.
PTM: Phosphorylated by GSK3B. Once phosphorylated, it becomes a target for BTRC ubiquitination.
PTM: Ubiquitinated on Lys-98, Lys-137 and Lys-146 by FBXL14 and BTRC leading to degradation. BTRC-triggered ubiquitination requires previous GSK3B-mediated SNAI1 phosphorylation.
PTM: O-GlcNAcylation at Ser-112 is enhanced in hyperglycaemic conditions, it opposes phosphorylation by GSK3B, and stabilizes the protein.
SIMILARITY: Belongs to the snail C2H2-type zinc-finger protein family.
SIMILARITY: Contains 4 C2H2-type zinc fingers.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNAI1
Diseases sorted by gene-association score: snail allergy (15), gastroesophageal junction adenocarcinoma (12), cercarial dermatitis (9), fasciolopsiasis (8), hemophagocytic lymphohistiocytosis, familial, 3 (8), dracunculiasis (7), hereditary spastic paraplegia 3a (6), inappropriate adh syndrome (6), gnathomiasis (5), intestinal schistosomiasis (5), parasitic helminthiasis infectious disease (5), breast metaplastic carcinoma (3), oral squamous cell carcinoma (3), colorectal cancer (1), gastrointestinal system cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.58 RPKM in Adipose - Visceral (Omentum)
Total median expression: 188.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.2080-0.315 Picture PostScript Text
3' UTR -309.30830-0.373 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF13894 - C2H2-type zinc finger
PF13912 - C2H2-type zinc finger

SCOP Domains:
57667 - beta-beta-alpha zinc fingers
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57783 - Zinc beta-ribbon
161219 - CHY zinc finger-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2Y48 - X-ray


ModBase Predicted Comparative 3D Structure on O95863
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0019900 kinase binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001649 osteoblast differentiation
GO:0001707 mesoderm formation
GO:0001837 epithelial to mesenchymal transition
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007498 mesoderm development
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010957 negative regulation of vitamin D biosynthetic process
GO:0016477 cell migration
GO:0030335 positive regulation of cell migration
GO:0031069 hair follicle morphogenesis
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0060021 palate development
GO:0060536 cartilage morphogenesis
GO:0060707 trophoblast giant cell differentiation
GO:0060806 negative regulation of cell differentiation involved in embryonic placenta development
GO:0060972 left/right pattern formation
GO:0061314 Notch signaling involved in heart development
GO:0070828 heterochromatin organization
GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
GO:2000810 regulation of bicellular tight junction assembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005721 pericentric heterochromatin
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK313228 - Homo sapiens cDNA, FLJ93731, highly similar to Homo sapiens snail homolog 1 (Drosophila) (SNAI1), mRNA.
BC012910 - Homo sapiens snail homolog 1 (Drosophila), mRNA (cDNA clone MGC:21748 IMAGE:4537122), complete cds.
AF125377 - Homo sapiens zinc finger protein (SNAH) mRNA, complete cds.
DQ891599 - Synthetic construct clone IMAGE:100004229; FLH178492.01X; RZPDo839D10128D snail homolog 1 (Drosophila) (SNAI1) gene, encodes complete protein.
DQ894793 - Synthetic construct Homo sapiens clone IMAGE:100009253; FLH178488.01L; RZPDo839D10127D snail homolog 1 (Drosophila) (SNAI1) gene, encodes complete protein.
AF131208 - Homo sapiens snail protein mRNA, partial cds.
AB464226 - Synthetic construct DNA, clone: pF1KB7546, Homo sapiens SNAI1 gene for snail homolog 1, without stop codon, in Flexi system.
KJ892165 - Synthetic construct Homo sapiens clone ccsbBroadEn_01559 SNAI1 gene, encodes complete protein.
CU680444 - Synthetic construct Homo sapiens gateway clone IMAGE:100016926 5' read SNAI1 mRNA.
JD271489 - Sequence 252513 from Patent EP1572962.
JD090116 - Sequence 71140 from Patent EP1572962.
JD140799 - Sequence 121823 from Patent EP1572962.
JD341638 - Sequence 322662 from Patent EP1572962.
JD117594 - Sequence 98618 from Patent EP1572962.
JD468969 - Sequence 449993 from Patent EP1572962.
JD119574 - Sequence 100598 from Patent EP1572962.
JD164992 - Sequence 146016 from Patent EP1572962.
JD530126 - Sequence 511150 from Patent EP1572962.
JD120311 - Sequence 101335 from Patent EP1572962.
JD547441 - Sequence 528465 from Patent EP1572962.
JD419718 - Sequence 400742 from Patent EP1572962.
JD120261 - Sequence 101285 from Patent EP1572962.
JD135191 - Sequence 116215 from Patent EP1572962.
JD477576 - Sequence 458600 from Patent EP1572962.
JD564648 - Sequence 545672 from Patent EP1572962.
JD324557 - Sequence 305581 from Patent EP1572962.
JD107030 - Sequence 88054 from Patent EP1572962.
JD115843 - Sequence 96867 from Patent EP1572962.
JD217120 - Sequence 198144 from Patent EP1572962.
JD236163 - Sequence 217187 from Patent EP1572962.
JD547944 - Sequence 528968 from Patent EP1572962.
JD223132 - Sequence 204156 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_mta3Pathway - Downregulated of MTA-3 in ER-negative Breast Tumors

Reactome (by CSHL, EBI, and GO)

Protein O95863 (Reactome details) participates in the following event(s):

R-HSA-8944026 SNAI1,SNAI2 bind the PTEN gene promoter
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-6807070 PTEN Regulation
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2R842, ENST00000244050.1, ENST00000244050.2, NM_005985, O95863, Q9P113, Q9UBP7, Q9UHH7, SNAH, SNAI1_HUMAN, uc317ens.1, uc317ens.2
UCSC ID: ENST00000244050.3_4
RefSeq Accession: NM_005985.4
Protein: O95863 (aka SNAI1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.