Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EPSTI1 Gene

Aliases for EPSTI1 Gene

  • Epithelial Stromal Interaction 1 2 3 5
  • Epithelial Stromal Interaction 1 (Breast) 2 3
  • Epithelial Stromal Interaction Protein 1 2
  • Epithelial-Stromal Interaction Protein 1 3
  • EC 3.1.4.16 56
  • EC 3.6.3.6 56
  • BRESI1 3

External Ids for EPSTI1 Gene

Previous GeneCards Identifiers for EPSTI1 Gene

  • GC13M041462
  • GC13M037447
  • GC13M042397
  • GC13M041258
  • GC13M041260
  • GC13M042358
  • GC13M043460
  • GC13M024266

Summaries for EPSTI1 Gene

Entrez Gene Summary for EPSTI1 Gene

  • 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]

GeneCards Summary for EPSTI1 Gene

EPSTI1 (Epithelial Stromal Interaction 1) is a Protein Coding gene. Diseases associated with EPSTI1 include Lupus Erythematosus and Systemic Lupus Erythematosus.

Additional gene information for EPSTI1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPSTI1 Gene

Genomics for EPSTI1 Gene

GeneHancer (GH) Regulatory Elements for EPSTI1 Gene

Promoters and enhancers for EPSTI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I042989 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 565.8 +0.4 424 4 HDGF RB1 IRF4 YY1 TCF12 GLIS2 ZSCAN5C SCRT2 ZNF143 BCLAF1 EPSTI1 DNAJC15 GC13P042964
GH13I043022 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 16.9 -31.4 -31402 2.3 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF143 ATF7 RUNX3 RXRA DNAJC15 GC13P043024 EPSTI1
GH13I042995 Enhancer 1.2 FANTOM5 Ensembl ENCODE 25 -4.7 -4746 2.4 HDGF PKNOX1 JUN EBF1 BATF IRF4 BRCA1 RFX5 RELA RCOR1 DNAJC15 EPSTI1 LOC105370179
GH13I043053 Enhancer 1.2 Ensembl ENCODE 20.1 -65.7 -65703 9 HDGF PKNOX1 SMAD1 MLX SIN3A FEZF1 IRF4 ZNF213 FOS SP3 DNAJC15 EPSTI1 CCDC122 GC13M043046 GC13P043094
GH13I043048 Enhancer 1 FANTOM5 Ensembl ENCODE 22 -57.4 -57430 1.8 IKZF1 JUNB ETV6 MLLT1 BATF IKZF2 IRF4 DNAJC15 EPSTI1 GC13M043046 GC13P043094
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPSTI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPSTI1 gene promoter:

Genomic Locations for EPSTI1 Gene

Genomic Locations for EPSTI1 Gene
chr13:42,886,388-42,992,271
(GRCh38/hg38)
Size:
105,884 bases
Orientation:
Minus strand
chr13:43,460,524-43,566,407
(GRCh37/hg19)

Genomic View for EPSTI1 Gene

Genes around EPSTI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPSTI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPSTI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPSTI1 Gene

Proteins for EPSTI1 Gene

  • Protein details for EPSTI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96J88-ESIP1_HUMAN
    Recommended name:
    Epithelial-stromal interaction protein 1
    Protein Accession:
    Q96J88
    Secondary Accessions:
    • Q8IVC7
    • Q8NDQ7

    Protein attributes for EPSTI1 Gene

    Size:
    318 amino acids
    Molecular mass:
    36793 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD38599.2; Type=Miscellaneous discrepancy; Note=Intron retention. Authors have ignored retained intron when translating.; Evidence={ECO:0000305};

    Alternative splice isoforms for EPSTI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPSTI1 Gene

Selected DME Specific Peptides for EPSTI1 Gene

Q96J88:
  • RRNEIQR
  • NKLEEKK

Post-translational modifications for EPSTI1 Gene

No Post-translational modifications

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for EPSTI1

Domains & Families for EPSTI1 Gene

Gene Families for EPSTI1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for EPSTI1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EPSTI1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EPSTI1: view

No data available for UniProtKB/Swiss-Prot for EPSTI1 Gene

Function for EPSTI1 Gene

Molecular function for EPSTI1 Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated in breast carcinomas.

Enzyme Numbers (IUBMB) for EPSTI1 Gene

Phenotypes From GWAS Catalog for EPSTI1 Gene

genes like me logo Genes that share phenotypes with EPSTI1: view

Animal Model Products

miRNA for EPSTI1 Gene

miRTarBase miRNAs that target EPSTI1

Clone Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EPSTI1 Gene

Localization for EPSTI1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPSTI1 gene
Compartment Confidence
cytosol 3
plasma membrane 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EPSTI1 Gene

Pathways & Interactions for EPSTI1 Gene

SuperPathways for EPSTI1 Gene

No Data Available

Interacting Proteins for EPSTI1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000318982%0d%0a9606.ENSP00000308938%0d%0a
Selected Interacting proteins: Q96J88-ESIP1_HUMAN ENSP00000318982 for EPSTI1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for EPSTI1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EPSTI1 Gene

Drugs & Compounds for EPSTI1 Gene

No Compound Related Data Available

Transcripts for EPSTI1 Gene

Unigene Clusters for EPSTI1 Gene

Epithelial stromal interaction 1 (breast):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPSTI1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2: - - - - - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for EPSTI1 Gene

GeneLoc Exon Structure for
EPSTI1
ECgene alternative splicing isoforms for
EPSTI1

Expression for EPSTI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPSTI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPSTI1 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for EPSTI1 Gene

This gene is overexpressed in Heart (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPSTI1 Gene



Protein tissue co-expression partners for EPSTI1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPSTI1 Gene:

EPSTI1

SOURCE GeneReport for Unigene cluster for EPSTI1 Gene:

Hs.546467

mRNA Expression by UniProt/SwissProt for EPSTI1 Gene:

Q96J88-ESIP1_HUMAN
Tissue specificity: Highly expressed in placenta, small intestine, spleen, kidney, thymus, liver, salivary gland and testes. Weakly expressed in breast, skeletal muscle and colon. Highly expressed in breast cancer upon interaction between tumor cells and stromal cells in vitro. Expressed in blood mononuclear cells from patients with systemic lupus erythematosus (SLE).
genes like me logo Genes that share expression patterns with EPSTI1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPSTI1 Gene

Orthologs for EPSTI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPSTI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPSTI1 33 34
  • 98.78 (n)
dog
(Canis familiaris)
Mammalia LOC102154313 33
  • 85.93 (n)
EPSTI1 34
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPSTI1 33 34
  • 80.04 (n)
mouse
(Mus musculus)
Mammalia Epsti1 33 16 34
  • 77.14 (n)
rat
(Rattus norvegicus)
Mammalia Epsti1 33
  • 76.6 (n)
oppossum
(Monodelphis domestica)
Mammalia EPSTI1 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPSTI1 33 34
  • 63.5 (n)
lizard
(Anolis carolinensis)
Reptilia EPSTI1 34
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii epsti1 33 34
  • 53.12 (n)
Species where no ortholog for EPSTI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPSTI1 Gene

ENSEMBL:
Gene Tree for EPSTI1 (if available)
TreeFam:
Gene Tree for EPSTI1 (if available)

Paralogs for EPSTI1 Gene

No data available for Paralogs for EPSTI1 Gene

Variants for EPSTI1 Gene

Sequence variations from dbSNP and Humsavar for EPSTI1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs864622031 uncertain-significance, Malignant tumor of prostate 42,964,121(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1000016425 -- 42,929,308(-) T/C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000037264 -- 42,954,835(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000040097 -- 42,939,991(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000047337 -- 42,968,048(-) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EPSTI1 Gene

Variant ID Type Subtype PubMed ID
nsv957935 CNV deletion 24416366
nsv561562 CNV gain 21841781
nsv561558 CNV loss 21841781
nsv561557 CNV gain 21841781
nsv561552 CNV gain 21841781
nsv527959 CNV gain 19592680
nsv512314 CNV loss 21212237
nsv471131 CNV gain 18288195
nsv455873 CNV loss 19166990
nsv455870 CNV gain 19166990
nsv1150457 CNV deletion 26484159
nsv1120991 CNV deletion 24896259
nsv1071097 CNV deletion 25765185
nsv1052780 CNV gain 25217958
esv992683 CNV deletion 20482838
esv6875 CNV loss 19470904
esv3892335 CNV gain 25118596
esv3892334 CNV gain 25118596
esv3892333 CNV loss 25118596
esv3631907 CNV loss 21293372
esv3631906 CNV loss 21293372
esv3631900 CNV gain 21293372
esv3550387 CNV deletion 23714750
esv33538 CNV gain 17666407
esv3248941 CNV deletion 24192839
esv2887 CNV loss 18987735
esv2761785 CNV gain 21179565
esv2747321 CNV deletion 23290073
esv1461322 CNV deletion 17803354
dgv963n106 CNV deletion 24896259
dgv541e212 CNV loss 25503493
dgv330e214 CNV gain 21293372
dgv329e214 CNV gain 21293372
dgv3131n54 CNV gain 21841781
dgv3130n54 CNV gain 21841781
dgv3129n54 CNV gain 21841781
dgv225n27 CNV gain 19166990
dgv1641n100 CNV gain 25217958
dgv1640n100 CNV gain 25217958
dgv1639n100 CNV gain 25217958
dgv1638n100 CNV gain 25217958
dgv1637n100 CNV gain 25217958
dgv1636n100 CNV gain 25217958

Variation tolerance for EPSTI1 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.07; 90.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPSTI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPSTI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPSTI1 Gene

Disorders for EPSTI1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EPSTI1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
lupus erythematosus
  • systemic lupus erythematosus
systemic lupus erythematosus
  • sle
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EPSTI1

genes like me logo Genes that share disorders with EPSTI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPSTI1 Gene

Publications for EPSTI1 Gene

  1. Identification of EPSTI1, a novel gene induced by epithelial-stromal interaction in human breast cancer. (PMID: 11991720) Nielsen HL … Petersen OW (Genomics 2002) 2 3 4 58
  2. Isolation and expression profiling of genes upregulated in the peripheral blood cells of systemic lupus erythematosus patients. (PMID: 16769699) Ishii T … Nojima H (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R … Aloy P (Journal of molecular biology 2015) 3 58
  5. Identification of epithelial stromal interaction 1 as a novel effector downstream of Krüppel-like factor 8 in breast cancer invasion and metastasis. (PMID: 24096480) Li T … Zhao J (Oncogene 2014) 3 58

Products for EPSTI1 Gene

Sources for EPSTI1 Gene

Content
Loading form....