• Gene id: 94240

Gene Summary

• Gene Symbol: EPSTI1   Gene   UCSC   Ensembl
• Aliases: BRESI1
• Gene name: epithelial stromal interaction 1
• Alternate names: epithelial-stromal interaction protein 1, epithelial stromal interaction 1 (breast),
• Gene location: 13q14.11 (42992311: 42886387)     Exons: 20     NC_000013.11
• Gene summary(Entrez): 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 p
• OMIM: 607441

SNPs

rs12870438

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.42906069G>A
NC_000013.10   g.43480205G>A
NG_051573.1   g.91244C>T|SEQ=[G/A]|GENE=EPSTI1

Protein Summary

• Protein general information: Q96J88  
  • Name: Epithelial stromal interaction protein 1
  • Length: 318  
  • Mass: 36,793
• Sequence:

  MNTRNRVVNSGLGASPASRPTRDPQDPSGRQGELSPVEDQREGLEAAPKGPSRESVVHAGQRRTSAYTLIAPNIN
  RRNEIQRIAEQELANLEKWKEQNRAKPVHLVPRRLGGSQSETEVRQKQQLQLMQSKYKQKLKREESVRIKKEAEE
  AELQKMKAIQREKSNKLEEKKRLQENLRREAFREHQQYKTAEFLSKLNTESPDRSACQSAVCGPQSSTWKLPILP
  RDHSWARSWAYRDSLKAEENRKLQKMKDEQHQKSELLELKRQQQEQERAKIHQTEHRRVNNAFLDRLQGKSQPGG
  LEQSGGCWNMNSGNSWGI

• Structural information:
  • Interpro: IPR026185  
  • STRING: ENSP00000318982
• Other Databases: GeneCards:  EPSTI1  Malacards:  EPSTI1

Diseases

Associated diseases	References
Male factor infertility	MIK: 25908656
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 25908656
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25908656	Male infertility	rs7867029, rs7174015, rs12870438 and rs724078	Japanes e	917 (791 fertile men, 76 patients with azoospermia, 50 patients with oligozoospermia)	Male infertility	PSAT USP8 EPSTI1 MAS1L UBD
25908655	Male infertility	rs7867029, rs7174015, rs12870438 and rs724078	Japanes e	917 (791 fertile men, 76 patients with azoospermia, 50 patients with oligozoospermia)	Male infertility	PSAT USP8 EPSTI1 MAS1L UBD
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq