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SNAI1 snail family transcriptional repressor 1 [ Homo sapiens (human) ]

Gene ID: 6615, updated on 23-Oct-2021

Summary

Official Symbol
SNAI1provided by HGNC
Official Full Name
snail family transcriptional repressor 1provided by HGNC
Primary source
HGNC:HGNC:11128
See related
Ensembl:ENSG00000124216 MIM:604238
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
Also known as
SNA; SNAH; SNAIL; SLUGH2; SNAIL1; dJ710H13.1
Summary
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]
Expression
Broad expression in gall bladder (RPKM 10.2), thyroid (RPKM 5.1) and 21 other tissues See more
Orthologs
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Genomic context

See SNAI1 in Genome Data Viewer
Location:
20q13.13
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (49982980..49988886)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48599517..48605423)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene keratin 18 pseudogene 4 Neighboring gene RNA, U6 small nuclear 147, pseudogene Neighboring gene uncharacterized LOC105372654 Neighboring gene translation regulatory long non-coding RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis identifies three psoriasis susceptibility loci.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu leads to the depression of both total and beta-catenin-associated E-cadherin levels through Vpu-induced upregulation of the transcriptional repressor Snail PubMed
vpu HIV-1 Vpu upregulates the expression of Snail in HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Notch signaling involved in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in Notch signaling involved in heart development TAS
Traceable Author Statement
more info
PubMed 
involved_in aortic valve morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in cartilage morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation TAS
Traceable Author Statement
more info
PubMed 
involved_in hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in heterochromatin organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in left/right pattern formation IEA
Inferred from Electronic Annotation
more info
 
involved_in mesoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell differentiation involved in embryonic placenta development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of vitamin D biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in osteoblast differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of epithelial to mesenchymal transition TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
involved_in trophoblast giant cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in pericentric heterochromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger protein SNAI1
Names
protein sna
protein snail homolog 1
snail 1 homolog
snail 1 zinc finger protein
snail family zinc finger 1
snail homolog 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)

  1. NM_005985.4NP_005976.2  zinc finger protein SNAI1

    See identical proteins and their annotated locations for NP_005976.2

    Status: REVIEWED

    Source sequence(s)
    BC012910, DA972913
    Consensus CDS
    CCDS13423.1
    UniProtKB/Swiss-Prot
    O95863
    Related
    ENSP00000244050.2, ENST00000244050.3
    Conserved Domains (3) summary
    sd00017
    Location:182202
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:208230
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:195218
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    49982980..49988886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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