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

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; AllianceGenome:HGNC:11128
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: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (49982980..49988886)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (51752473..51758373)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (48599517..48605423)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NPTX2 Promotes Epithelial-Mesenchymal Transition in Cutaneous Squamous Cell Carcinoma through METTL3-Mediated N6-Methyladenosine Methylation of SNAIL.
Title: NPTX2 Promotes Epithelial-Mesenchymal Transition in Cutaneous Squamous Cell Carcinoma through METTL3-Mediated N6-Methyladenosine Methylation of SNAIL.
MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and Cisplatin Resistance.
Title: MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and Cisplatin Resistance.
Snail mediates GDF-8-stimulated human extravillous trophoblast cell invasion by upregulating MMP2 expression.
Title: Snail mediates GDF-8-stimulated human extravillous trophoblast cell invasion by upregulating MMP2 expression.
Epithelial-Mesenchymal Transition of Breast Cancer Cells Induced by Activation of the Transcription Factor Snail1.
Title: Epithelial-Mesenchymal Transition of Breast Cancer Cells Induced by Activation of the Transcription Factor Snail1.
Bone marrow overexpression of SNAI1 is an early indicator of intrinsic drug resistance in patients with de novo acute myeloid leukemia.
Title: Bone marrow overexpression of SNAI1 is an early indicator of intrinsic drug resistance in patients with de novo acute myeloid leukemia.
Circular RNA hsa_circ_0004689 (circSWT1) promotes NSCLC progression via the miR-370-3p/SNAIL axis by inducing cell epithelial-mesenchymal transition (EMT).
Title: Circular RNA hsa_circ_0004689 (circSWT1) promotes NSCLC progression via the miR-370-3p/SNAIL axis by inducing cell epithelial-mesenchymal transition (EMT).
SNAIL1 is involved in the control of the epithelial-mesenchymal transition in oral tongue squamous cell carcinoma.
Title: SNAIL1 is involved in the control of the epithelial-mesenchymal transition in oral tongue squamous cell carcinoma.
Single-copy Snail upregulation causes partial epithelial-mesenchymal transition in colon cancer cells.
Title: Single-copy Snail upregulation causes partial epithelial-mesenchymal transition in colon cancer cells.
The Transcription Factors Zeb1 and Snail Induce Cell Malignancy and Cancer Stem Cell Phenotype in Prostate Cells, Increasing Androgen Synthesis Capacity and Therapy Resistance.
Title: The Transcription Factors Zeb1 and Snail Induce Cell Malignancy and Cancer Stem Cell Phenotype in Prostate Cells, Increasing Androgen Synthesis Capacity and Therapy Resistance.
Hsa-microRNA-370-3p targeting Snail and Twist1 suppresses IL-8/STAT3-driven hepatocellular carcinoma metastasis.
Title: Hsa-microRNA-370-3p targeting Snail and Twist1 suppresses IL-8/STAT3-driven hepatocellular carcinoma metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (554)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis identifies three psoriasis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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 epithelial 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 DNA-templated transcription	IMP Inferred from Mutant Phenotype 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 regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of bicellular tight junction assembly	IMP Inferred from Mutant Phenotype 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
part_of pericentric heterochromatin	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

NM_005985.4 → NP_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, Q9UHH7

Related

ENSP00000244050.2, ENST00000244050.3

Conserved Domains (3) summary

sd00017
Location:182 → 202

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:208 → 230

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:195 → 218

zf-H2C2_2; Zinc-finger double domain