This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] See more...

Aliases for EPPIN-WFDC6 Gene

Aliases for EPPIN-WFDC6 Gene

  • EPPIN-WFDC6 Readthrough 2 3 5
  • SPINLW1-WFDC6 Readthrough 2 3
  • Serine Protease Inhibitor-Like With Kunitz And WAP Domains 1 4
  • WAP Four-Disulfide Core Domain Protein 7 4
  • WAP Four-Disulfide Core Domain Protein 6 4
  • SPINLW1-WFDC6 Read-Through Transcript 3
  • Putative Protease Inhibitor WAP6 4
  • Epididymal Protease Inhibitor 4
  • SPINLW1-WFDC6 Fusion Protein 3
  • Cancer/Testis Antigen 71 4
  • Protease Inhibitor WAP7 4
  • SPINLW1-WFDC6 3
  • EPPIN-WFDC6 5
  • C20orf171 4
  • SPINLW1 4
  • WFDC7 4
  • Eppin 4
  • WAP7 4
  • CT71 4
  • WAP6 4

External Ids for EPPIN-WFDC6 Gene

Previous HGNC Symbols for EPPIN-WFDC6 Gene

  • SPINLW1-WFDC6

Previous GeneCards Identifiers for EPPIN-WFDC6 Gene

  • GC20M044182
  • GC20M044164

Summaries for EPPIN-WFDC6 Gene

Entrez Gene Summary for EPPIN-WFDC6 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]

GeneCards Summary for EPPIN-WFDC6 Gene

EPPIN-WFDC6 (EPPIN-WFDC6 Readthrough) is a Protein Coding gene. Among its related pathways are Innate Immune System and Defensins. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity. An important paralog of this gene is EPPIN.

UniProtKB/Swiss-Prot Summary for EPPIN-WFDC6 Gene

  • Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility.

Additional gene information for EPPIN-WFDC6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPPIN-WFDC6 Gene

Genomics for EPPIN-WFDC6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPPIN-WFDC6 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
GH20J045546 Enhancer 0.5 ENCODE 600.7 +1.4 1395 0.2 CTCF REST RAD21 ZNF335 SMC3 ZNF654 NFXL1 TRIM22 EPPIN EPPIN-WFDC6 lnc-WFDC6-2 HSPD1P21 WFDC6
GH20J045547 Promoter 0.3 EPDnew 600.7 +0.2 241 0.1 EPPIN EPPIN-WFDC6 lnc-WFDC6-2 WFDC6
GH20J045770 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 -225.1 -225129 4 GATAD2A CTCF TFE3 JUND FOXA1 PRDM1 ZNF143 POLR2A RXRB REST WFDC3 WFDC13 SPINT5P HNRNPA1P3 UBE2C SNX21 TNNC2 EPPIN EPPIN-WFDC6 HSPD1P21
GH20J045765 Enhancer 0.6 Ensembl ENCODE 10.3 -218.8 -218795 2.7 POLR2A ETS1 NANOG POU5F1 WFDC3 WFDC13 DNTTIP1 HNRNPA1P3 EPPIN EPPIN-WFDC6 WFDC6 ENSG00000232135 HSPD1P21 SPINT3
GH20J045589 Enhancer 0.5 Ensembl 10.8 -41.4 -41439 0.2 CREB1 ATF7 JUND ATF3 ATF2 JUN lnc-WFDC8-1 WFDC10A WFDC9 EPPIN EPPIN-WFDC6 WFDC6 HSPD1P21 ENSG00000232135 RNU6ATAC38P HNRNPA1P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPPIN-WFDC6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPPIN-WFDC6

Genomic Locations for EPPIN-WFDC6 Gene

Genomic Locations for EPPIN-WFDC6 Gene
chr20:45,534,196-45,547,662
(GRCh38/hg38)
Size:
13,467 bases
Orientation:
Minus strand
chr20:44,164,919-44,176,065
(GRCh37/hg19)
Size:
11,147 bases
Orientation:
Minus strand

Genomic View for EPPIN-WFDC6 Gene

Genes around EPPIN-WFDC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPPIN-WFDC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPPIN-WFDC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPPIN-WFDC6 Gene

Proteins for EPPIN-WFDC6 Gene

  • Protein details for EPPIN-WFDC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95925-EPPI_HUMAN
    Recommended name:
    Eppin
    Protein Accession:
    O95925
    Secondary Accessions:
    • A6PVD6
    • Q86TP9
    • Q96SD7
    • Q9HD30

    Protein attributes for EPPIN-WFDC6 Gene

    Size:
    133 amino acids
    Molecular mass:
    15284 Da
    Quaternary structure:
    • Monomer. Homodimer. Homomultimers. Interacts with SEMG1 (via 164-283 AA). Interacts with LTF. Found in a complex with LTF, CLU, EPPIN and SEMG1.
    Miscellaneous:
    • Might be used as a target for male contraception.
    • [Isoform 2]: Lacks a cleavable signal sequence.
    • [Isoform 3]: Based on a readthrough transcript which may produce a EPPIN-WFDC6 fusion protein.

    Alternative splice isoforms for EPPIN-WFDC6 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for EPPIN-WFDC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQY6-WFDC6_HUMAN
    Recommended name:
    WAP four-disulfide core domain protein 6
    Protein Accession:
    Q9BQY6
    Secondary Accessions:
    • Q3MJ23
    • Q5JYQ4
    • Q8NFV6

    Protein attributes for EPPIN-WFDC6 Gene

    Size:
    131 amino acids
    Molecular mass:
    14626 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EPPIN-WFDC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPPIN-WFDC6 Gene

Post-translational modifications for EPPIN-WFDC6 Gene

No Post-translational modifications

Other Protein References for EPPIN-WFDC6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPPIN-WFDC6 Gene

Domains & Families for EPPIN-WFDC6 Gene

Gene Families for EPPIN-WFDC6 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for EPPIN-WFDC6 Gene

InterPro:
Blocks:
  • 4-disulphide core signature
  • Pancreatic trypsin inhibitor (Kunitz)
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O95925

UniProtKB/Swiss-Prot:

WFDC6_HUMAN :
  • The BPTI/Kunitz inhibitor domain is required for elastase inhibitory activity. BPTI/Kunitz inhibitor and WAP domains are involved in the protein antibacterial activity.
Domain:
  • The BPTI/Kunitz inhibitor domain is required for elastase inhibitory activity. BPTI/Kunitz inhibitor and WAP domains are involved in the protein antibacterial activity.
genes like me logo Genes that share domains with EPPIN-WFDC6: view

No data available for Suggested Antigen Peptide Sequences for EPPIN-WFDC6 Gene

Function for EPPIN-WFDC6 Gene

Molecular function for EPPIN-WFDC6 Gene

UniProtKB/Swiss-Prot Function:
Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility.

Gene Ontology (GO) - Molecular Function for EPPIN-WFDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005515 protein binding IPI --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with EPPIN-WFDC6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPPIN-WFDC6

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EPPIN-WFDC6 Gene

Localization for EPPIN-WFDC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPPIN-WFDC6 Gene

[Isoform 1]: Secreted. Cell surface. Note=Bound to the surface of testicular and on the head and tail of ejaculate spermatozoa.
Secreted.

Gene Ontology (GO) - Cellular Components for EPPIN-WFDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0009986 cell surface IEA --
GO:0032991 protein-containing complex IDA --
GO:0097524 sperm plasma membrane TAS --
genes like me logo Genes that share ontologies with EPPIN-WFDC6: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for EPPIN-WFDC6 Gene

Pathways & Interactions for EPPIN-WFDC6 Gene

PathCards logo

SuperPathways for EPPIN-WFDC6 Gene

genes like me logo Genes that share pathways with EPPIN-WFDC6: view

Pathways by source for EPPIN-WFDC6 Gene

3 Reactome pathways for EPPIN-WFDC6 Gene

Gene Ontology (GO) - Biological Process for EPPIN-WFDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IBA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0019730 antimicrobial humoral response TAS --
GO:0042742 defense response to bacterium IDA --
GO:0090281 negative regulation of calcium ion import IMP --
genes like me logo Genes that share ontologies with EPPIN-WFDC6: view

No data available for SIGNOR curated interactions for EPPIN-WFDC6 Gene

Drugs & Compounds for EPPIN-WFDC6 Gene

No Compound Related Data Available

Transcripts for EPPIN-WFDC6 Gene

mRNA/cDNA for EPPIN-WFDC6 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPPIN-WFDC6

Alternative Splicing Database (ASD) splice patterns (SP) for EPPIN-WFDC6 Gene

No ASD Table

Relevant External Links for EPPIN-WFDC6 Gene

GeneLoc Exon Structure for
EPPIN-WFDC6

Expression for EPPIN-WFDC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPPIN-WFDC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPPIN-WFDC6 Gene

This gene is overexpressed in Testis (53.4) and Ovary (15.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPPIN-WFDC6 Gene



Protein tissue co-expression partners for EPPIN-WFDC6 Gene

mRNA Expression by UniProt/SwissProt for EPPIN-WFDC6 Gene:

O95925-EPPI_HUMAN
Tissue specificity: In testis, expressed and secreted by Sertoli cells, appearing on the surface of testicular and ejaculate spermatozoa. Expressed in the spermatogonia and the earliest preleptotene spermatocytes. In the epididymis, is expressed and secreted by epithelial cells and covers the surface of epididymal spermatozoa and ciliated epithelial cells (at protein level). Expressed specifically in epididymis and testis. Isoform 2 is expressed only in the epididymis. Weak expression is detected in myoid cells as well as spermatogenic cells.
genes like me logo Genes that share expression patterns with EPPIN-WFDC6: view

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPPIN-WFDC6 Gene

Orthologs for EPPIN-WFDC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPPIN-WFDC6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPINLW1 30
  • 97.93 (n)
-- 31
  • 97 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SPINLW1 30 31
  • 77.58 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Eppin 30 17 31
  • 75.15 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Eppin 30
  • 75 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 43 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 33 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 32 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
-- 31
  • 25 (a)
ManyToMany
-- 31
  • 24 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG3604 31
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea R12A1.3 31
  • 18 (a)
OneToMany
Species where no ortholog for EPPIN-WFDC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Zebrafish (Danio rerio)

Evolution for EPPIN-WFDC6 Gene

ENSEMBL:
Gene Tree for EPPIN-WFDC6 (if available)
TreeFam:
Gene Tree for EPPIN-WFDC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPPIN-WFDC6: view image

Paralogs for EPPIN-WFDC6 Gene

genes like me logo Genes that share paralogs with EPPIN-WFDC6: view

Variants for EPPIN-WFDC6 Gene

Additional dbSNP identifiers (rs#s) for EPPIN-WFDC6 Gene

Structural Variations from Database of Genomic Variants (DGV) for EPPIN-WFDC6 Gene

Variant ID Type Subtype PubMed ID
nsv1056102 CNV loss 25217958

Variation tolerance for EPPIN-WFDC6 Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPPIN-WFDC6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPPIN-WFDC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPPIN-WFDC6 Gene

Disorders for EPPIN-WFDC6 Gene

Additional Disease Information for EPPIN-WFDC6

No disorders were found for EPPIN-WFDC6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPPIN-WFDC6 Gene

Publications for EPPIN-WFDC6 Gene

  1. Characterization of EPPIN's semenogelin I binding site: a contraceptive drug target. (PMID: 22699487) Silva EJ … O'Rand MG (Biology of reproduction 2012) 4
  2. Distribution of Eppin in mouse and human testis. (PMID: 21461566) Long Y … Wang X (Molecular medicine reports 2011) 4
  3. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3
  4. Functional domains of the human epididymal protease inhibitor, eppin. (PMID: 18331357) McCrudden MT … Timson DJ (The FEBS journal 2008) 4
  5. Characterization of an eppin protein complex from human semen and spermatozoa. (PMID: 17567961) Wang Z … O'Rand MG (Biology of reproduction 2007) 4

Products for EPPIN-WFDC6 Gene

Sources for EPPIN-WFDC6 Gene