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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 61
  • EC 3.6.3.6 61
  • 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.

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

Regulatory Elements for EPSTI1 Gene

Enhancers for EPSTI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G042995 1.4 FANTOM5 Ensembl ENCODE 25 -4.7 -4747 2.4 TBP HDGF PKNOX1 JUN EBF1 BRCA1 RELA RFX5 EED RCOR1 DNAJC15 EPSTI1 LOC105370179
GH13G043053 1.3 Ensembl ENCODE 20.1 -65.7 -65703 9.0 HDGF PKNOX1 ATF1 MLX SIN3A FEZF1 GLIS2 FOS KLF7 SP3 DNAJC15 EPSTI1 CCDC122 GC13M043046 GC13P043094
GH13G043048 1.1 FANTOM5 Ensembl ENCODE 22 -57.4 -57430 1.8 IKZF1 JUNB MLLT1 NFE2 RELB ETV6 IKZF2 DNAJC15 EPSTI1 GC13M043046 GC13P043094
GH13G043043 1.4 FANTOM5 Ensembl ENCODE 16.3 -52.5 -52497 3.3 ELF3 PKNOX1 TBL1XR1 BMI1 ZSCAN9 YY1 CBX5 RELB ETV6 IKZF2 DNAJC15 EPSTI1 TNFSF11 GC13P043043 GC13M043046
GH13G042989 1.2 ENCODE dbSUPER 15.8 +0.4 425 4.0 HDGF WRNIP1 ZBTB40 YY1 TCF12 GLIS2 ZSCAN5C SCRT2 ZNF143 FOS EPSTI1 DNAJC15 GC13P042964
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPSTI1 on UCSC Golden Path with GeneCards custom track

Promoters for EPSTI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000061956 71 1201 HDGF ZBTB40 YY1 TCF12 GLIS2 ZSCAN5C SCRT2 ZNF143 RELB IKZF2

Genomic Location for EPSTI1 Gene

Chromosome:
13
Start:
42,886,388 bp from pter
End:
42,992,271 bp from pter
Size:
105,884 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cloud-Clone Corp. Antibodies for EPSTI1
  • Santa Cruz Biotechnology (SCBT) Antibodies for EPSTI1

Domains & Families for EPSTI1 Gene

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 Gene Families and 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

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

Animal Model Products

CRISPR Products

miRNA for EPSTI1 Gene

miRTarBase miRNAs that target EPSTI1

Inhibitory RNA Products

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

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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 34 35
  • 98.78 (n)
dog
(Canis familiaris)
Mammalia LOC102154313 34
  • 85.93 (n)
EPSTI1 35
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPSTI1 34 35
  • 80.04 (n)
mouse
(Mus musculus)
Mammalia Epsti1 34 16 35
  • 77.14 (n)
rat
(Rattus norvegicus)
Mammalia Epsti1 34
  • 76.6 (n)
oppossum
(Monodelphis domestica)
Mammalia EPSTI1 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPSTI1 34 35
  • 63.5 (n)
lizard
(Anolis carolinensis)
Reptilia EPSTI1 35
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii epsti1 34 35
  • 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 Sequence Context AA Info Type
rs864622031 Uncertain significance 42,964,121(-) AGAAA(C/T)TGAAG reference, missense, utr-variant-5-prime
rs1000016425 -- 42,929,308(+) ACCAC(C/T)ACTTC intron-variant, upstream-variant-2KB
rs1000037264 -- 42,954,835(+) AGAGA(C/G)ACAGT intron-variant
rs1000040097 -- 42,939,991(+) TCTTG(C/T)CTTCT intron-variant
rs1000047337 -- 42,968,048(+) AGCTA(G/T)GTCAC intron-variant

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

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

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)

Relevant External Links 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
  • lupus nephritis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EPSTI1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 H.L. … Petersen O.W. (Genomics 2002) 2 3 4 64
  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 Res. 2005) 3 4 64
  3. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3 64
  4. Identification of epithelial stromal interaction 1 as a novel effector downstream of KrA1ppel-like factor 8 in breast cancer invasion and metastasis. (PMID: 24096480) Li T. … Zhao J. (Oncogene 2014) 3 64
  5. Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. (PMID: 23898208) Johnson T.P. … Nath A. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 64

Products for EPSTI1 Gene

Sources for EPSTI1 Gene

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