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EPSTI1 epithelial stromal interaction 1 [ Homo sapiens (human) ]

Gene ID: 94240, updated on 5-Mar-2024

Summary

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Official Symbol
EPSTI1provided by HGNC
Official Full Name
epithelial stromal interaction 1provided by HGNC
Primary source
HGNC:HGNC:16465
See related
Ensembl:ENSG00000133106 MIM:607441; AllianceGenome:HGNC:16465
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
BRESI1
Summary
The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016]
Expression
Broad expression in lymph node (RPKM 5.8), spleen (RPKM 5.8) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See EPSTI1 in Genome Data Viewer
Location:
13q14.11
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (42886388..42992241, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (42106432..42210657, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (43460524..43566377, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1050 Neighboring gene long intergenic non-protein coding RNA 428 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:43442191-43442793 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:43444417-43445206 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:43446787-43447575 Neighboring gene uncharacterized LOC124903165 Neighboring gene zinc finger DHHC-type containing 4 pseudogene 1 Neighboring gene uncharacterized LOC105370178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:43559741-43560242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7659 Neighboring gene uncharacterized LOC105370179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:43610507-43611076 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:43615193-43616041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:43620285-43620960 Neighboring gene DnaJ heat shock protein family (Hsp40) member C15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7667 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:43632313-43632832 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:43635435-43635954 Neighboring gene long intergenic non-protein coding RNA 400

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. EPSTI1 as an immune biomarker predicts the prognosis of patients with stage III colon cancer. Wang X, et al. Front Immunol, 2022. PMID 36330510, Free PMC Article
  2. Knockdown of EPSTI1 alleviates lipopolysaccharide-induced inflammatory injury through regulation of NF-κB signaling in a cellular pneumonia model. Kari A, et al. Allergol Immunopathol (Madr), 2022. PMID 35527663
  3. Contrasting functions of the epithelial‑stromal interaction 1 gene, in human oral and lung squamous cell cancers. Fan M, et al. Oncol Rep, 2022 Jan. PMID 34738627, Free PMC Article
  4. Role of epithelial - Stromal interaction protein-1 expression in breast cancer. Raval AP, et al. Indian J Pathol Microbiol, 2020 Jul-Sep. PMID 32769326
  5. Elevated EPSTI1 promote B cell hyperactivation through NF-κB signalling in patients with primary Sjögren's syndrome. Sun JL, et al. Ann Rheum Dis, 2020 Apr. PMID 32114510

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EPSTI1 promotes monocyte adhesion to endothelial cells in vitro via upregulating VCAM-1 and ICAM-1 expression.
    Title: EPSTI1 promotes monocyte adhesion to endothelial cells in vitro via upregulating VCAM-1 and ICAM-1 expression.
  2. EPSTI1 as an immune biomarker predicts the prognosis of patients with stage III colon cancer.
    Title: EPSTI1 as an immune biomarker predicts the prognosis of patients with stage III colon cancer.
  3. Knockdown of EPSTI1 alleviates lipopolysaccharide-induced inflammatory injury through regulation of NF-kappaB signaling in a cellular pneumonia model.
    Title: Knockdown of EPSTI1 alleviates lipopolysaccharide-induced inflammatory injury through regulation of NF-κB signaling in a cellular pneumonia model.
  4. Contrasting functions of the epithelialstromal interaction 1 gene, in human oral and lung squamous cell cancers.
    Title: Contrasting functions of the epithelial‑stromal interaction 1 gene, in human oral and lung squamous cell cancers.
  5. Role of epithelial - Stromal interaction protein-1 expression in breast cancer.
    Title: Role of epithelial - Stromal interaction protein-1 expression in breast cancer.
  6. The circEPSTI1/mir-942-5p/LTBP2 axis regulates the progression of OSCC in the background of OSF via EMT and the PI3K/Akt/mTOR pathway.
    Title: The circEPSTI1/mir-942-5p/LTBP2 axis regulates the progression of OSCC in the background of OSF via EMT and the PI3K/Akt/mTOR pathway.
  7. circEPSTI1 Acts as a ceRNA to Regulate the Progression of Osteosarcoma.
    Title: circEPSTI1 Acts as a ceRNA to Regulate the Progression of Osteosarcoma.
  8. Data show that showed that circular RNAs (circEPSTI1) and EPSTI1 (epithelial stromal interaction 1) could directly bind to miR-942.
    Title: circEPSTI1 regulates ovarian cancer progression via decoying miR-942.
  9. Elevated EPSTI1 expression in primary Sjogren's syndrome B cells promoted TLR9 signalling activation and contributed to the abnormal B cell activation, which was promoted by facilitating p65 phosphorylation and activation of NF-kappaB signalling via promoting IkappaBalpha degradation.
    Title: Elevated EPSTI1 promote B cell hyperactivation through NF-κB signalling in patients with primary Sjögren's syndrome.
  10. circEPSTI1,a significantly upregulated circRNA, which is derived from the EPSTI1 (epithelial stromal interaction 1) gene locus, is an independent prognostic marker for triple-negative breast cancer patient survival.
    Title: circEPSTI1 as a Prognostic Marker and Mediator of Triple-Negative Breast Cancer Progression.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the expression of epithelial stromal interaction 1 (EPSTI1) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC29634

General protein information

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Preferred Names
epithelial-stromal interaction protein 1
Names
epithelial stromal interaction 1 (breast)

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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.

Genomic

  1. NG_051573.2 RefSeqGene

    Range
    5000..110853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002264.4 → NP_001002264.1  epithelial-stromal interaction protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001002264.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL137878, AL445217
    Consensus CDS
    CCDS31964.1
    UniProtKB/Swiss-Prot
    Q96J88
    Related
    ENSP00000318982.7, ENST00000313640.11
    Conserved Domains (1) summary
    cl26511
    Location:76 → 284
    Neuromodulin_N; Gap junction protein N-terminal region

  2. NM_001330543.2 → NP_001317472.1  epithelial-stromal interaction protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region, which results in a frameshift and a longer 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL137878, AL445217
    Consensus CDS
    CCDS81765.1
    UniProtKB/Swiss-Prot
    Q8IVC7, Q8NDQ7, Q96J88
    Related
    ENSP00000381746.3, ENST00000398762.7
    Conserved Domains (1) summary
    pfam17380
    Location:75 → 283
    DUF5401; Family of unknown function (DUF5401)

  3. NM_001331228.2 → NP_001318157.1  epithelial-stromal interaction protein 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple alternate exons compared to variant 1. These differences result in a distinct 5' UTR, cause translation initiation at a downstream stop codon, and result in a frameshift and a longer 3' UTR, compared to variant 1. Use of the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (4) that has a shorter N-terminus, is missing an internal segment, and has a distinct C-terminus, compared to isoform 1
    Source sequence(s)
    AL137878, AL445217
    UniProtKB/Swiss-Prot
    Q96J88

  4. NM_033255.5 → NP_150280.1  epithelial-stromal interaction protein 1 isoform 2

    See identical proteins and their annotated locations for NP_150280.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate coding exons, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL137878, AL445217
    Consensus CDS
    CCDS9387.1
    UniProtKB/Swiss-Prot
    Q96J88
    Related
    ENSP00000318643.7, ENST00000313624.12
    Conserved Domains (1) summary
    cl12013
    Location:95 → 189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    42886388..42992241 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535313.2 → XP_011533615.1  epithelial-stromal interaction protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011533615.1

    Conserved Domains (1) summary
    pfam06936
    Location:13 → 102
    Selenoprotein_S; Selenoprotein S (SelS)

  2. XM_005266596.2 → XP_005266653.1  epithelial-stromal interaction protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005266653.1

    Conserved Domains (1) summary
    cl12013
    Location:95 → 189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  3. XM_047430784.1 → XP_047286740.1  epithelial-stromal interaction protein 1 isoform X5

  4. XM_047430781.1 → XP_047286737.1  epithelial-stromal interaction protein 1 isoform X3

  5. XM_047430780.1 → XP_047286736.1  epithelial-stromal interaction protein 1 isoform X3

  6. XM_047430779.1 → XP_047286735.1  epithelial-stromal interaction protein 1 isoform X3

  7. XM_047430778.1 → XP_047286734.1  epithelial-stromal interaction protein 1 isoform X3

  8. XM_011535312.3 → XP_011533614.1  epithelial-stromal interaction protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011533614.1

    Conserved Domains (1) summary
    pfam06936
    Location:13 → 102
    Selenoprotein_S; Selenoprotein S (SelS)

  9. XM_017020855.3 → XP_016876344.1  epithelial-stromal interaction protein 1 isoform X3

    Related
    ENST00000540470.5
    Conserved Domains (1) summary
    pfam06936
    Location:13 → 102
    Selenoprotein_S; Selenoprotein S (SelS)

  10. XM_011535314.2 → XP_011533616.1  epithelial-stromal interaction protein 1 isoform X4

    Conserved Domains (1) summary
    TIGR00570
    Location:53 → 202
    cdk7; CDK-activating kinase assembly factor MAT1

  11. XM_006719896.5 → XP_006719959.1  epithelial-stromal interaction protein 1 isoform X2

    Conserved Domains (1) summary
    pfam17380
    Location:75 → 283
    DUF5401; Family of unknown function (DUF5401)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    42106432..42210657 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375202.1 → XP_054231177.1  epithelial-stromal interaction protein 1 isoform X3

  2. XM_054375193.1 → XP_054231168.1  epithelial-stromal interaction protein 1 isoform X1

  3. XM_054375204.1 → XP_054231179.1  epithelial-stromal interaction protein 1 isoform X5

  4. XM_054375200.1 → XP_054231175.1  epithelial-stromal interaction protein 1 isoform X3

  5. XM_054375199.1 → XP_054231174.1  epithelial-stromal interaction protein 1 isoform X3

  6. XM_054375197.1 → XP_054231172.1  epithelial-stromal interaction protein 1 isoform X3

  7. XM_054375196.1 → XP_054231171.1  epithelial-stromal interaction protein 1 isoform X3

  8. XM_054375195.1 → XP_054231170.1  epithelial-stromal interaction protein 1 isoform X3

  9. XM_054375198.1 → XP_054231173.1  epithelial-stromal interaction protein 1 isoform X3

  10. XM_054375201.1 → XP_054231176.1  epithelial-stromal interaction protein 1 isoform X3

  11. XM_054375203.1 → XP_054231178.1  epithelial-stromal interaction protein 1 isoform X4

  12. XM_054375194.1 → XP_054231169.1  epithelial-stromal interaction protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96J88.2 GenPept UniProtKB/Swiss-Prot:Q96J88

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