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

    Gene ID: 6615, updated on 12-Sep-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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