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

    Gene ID: 6615, updated on 10-Dec-2017
    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; Vega:OTTHUMG00000033048
    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
    Location:
    20q13.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (49982976..49988886)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48599513..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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch signaling involved in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cartilage morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial to mesenchymal transition involved in endocardial cushion formation IEA
    Inferred from Electronic Annotation
    more info
     
    hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    left/right pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    mesoderm formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell differentiation involved in embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of vitamin D biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    osteoblast differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial to mesenchymal transition TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    trophoblast giant cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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

    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_005985.3NP_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, OTTHUMP00000031680, ENST00000244050.2, OTTHUMT00000080350
      Conserved Domains (3) summary
      COG5048
      Location:177253
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:182202
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:195218
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      49982976..49988886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      48504120..48510030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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