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

    Gene ID: 94240, updated on 19-Sep-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (42886388..42992241, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (42106432..42210657, complement)
    RS_2024_09 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 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?
    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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    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    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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    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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