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

Gene ID: 94240, updated on 12-Oct-2019

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
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

Genomic context

See EPSTI1 in Genome Data Viewer
Location:
13q14.11
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (42886388..42992271, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (43460524..43566407, 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 uncharacterized LOC105370178 Neighboring gene zinc finger DHHC-type containing 4 pseudogene 1 Neighboring gene uncharacterized LOC105370179 Neighboring gene DnaJ heat shock protein family (Hsp40) member C15 Neighboring gene long intergenic non-protein coding RNA 400

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA 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

Homology

Clone Names

  • MGC29634

General protein information

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

NCBI Reference Sequences (RefSeq)

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_051573.1 RefSeqGene

    Range
    5001..110925
    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
    Q96J88
    Related
    ENSP00000381746.3, ENST00000398762.7
  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, ENST00000313624.11
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    42886388..42992271 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266596.1XP_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
  2. XM_011535313.1XP_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)
  3. XM_017020853.2XP_016876342.1  epithelial-stromal interaction protein 1 isoform X3

    Conserved Domains (1) summary
    pfam06936
    Location:13102
    Selenoprotein_S; Selenoprotein S (SelS)
  4. XM_017020854.1XP_016876343.1  epithelial-stromal interaction protein 1 isoform X3

    Conserved Domains (1) summary
    pfam06936
    Location:13102
    Selenoprotein_S; Selenoprotein S (SelS)
  5. XM_011535312.2XP_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)
  6. XM_017020855.2XP_016876344.1  epithelial-stromal interaction protein 1 isoform X3

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

    Conserved Domains (1) summary
    TIGR00570
    Location:53202
    cdk7; CDK-activating kinase assembly factor MAT1
  8. XM_006719896.4XP_006719959.1  epithelial-stromal interaction protein 1 isoform X2

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