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

    Gene ID: 94240, updated on 19-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001002264.4NP_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:76284
      Neuromodulin_N; Gap junction protein N-terminal region
    2. NM_001330543.2NP_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:75283
      DUF5401; Family of unknown function (DUF5401)
    3. NM_001331228.2NP_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_033255.5NP_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:95189
      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_011535313.2XP_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:13102
      Selenoprotein_S; Selenoprotein S (SelS)
    2. XM_005266596.2XP_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:95189
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. XM_047430784.1XP_047286740.1  epithelial-stromal interaction protein 1 isoform X5

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

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

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

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

    8. XM_011535312.3XP_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:13102
      Selenoprotein_S; Selenoprotein S (SelS)
    9. XM_017020855.3XP_016876344.1  epithelial-stromal interaction protein 1 isoform X3

      Related
      ENST00000540470.5
      Conserved Domains (1) summary
      pfam06936
      Location:13102
      Selenoprotein_S; Selenoprotein S (SelS)
    10. XM_011535314.2XP_011533616.1  epithelial-stromal interaction protein 1 isoform X4

      Conserved Domains (1) summary
      TIGR00570
      Location:53202
      cdk7; CDK-activating kinase assembly factor MAT1
    11. XM_006719896.5XP_006719959.1  epithelial-stromal interaction protein 1 isoform X2

      Conserved Domains (1) summary
      pfam17380
      Location:75283
      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_054375202.1XP_054231177.1  epithelial-stromal interaction protein 1 isoform X3

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

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

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

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

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

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

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

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

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

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

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