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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
  • 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
  • C20orf171 4
  • SPINLW1 4
  • WFDC7 4
  • EPPIN 4
  • WFDC6 4
  • CT71 4
  • WAP6 4
  • WAP7 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 Defensins and Innate Immune System. 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 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPPIN-WFDC6 Gene

Genomics for EPPIN-WFDC6 Gene

Regulatory Elements for EPPIN-WFDC6 Gene

Enhancers for EPPIN-WFDC6 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
GH20G045770 1.5 Ensembl ENCODE dbSUPER 10.2 -223.9 -223912 1.1 FOXA2 MLX ARID4B SLC30A9 GATA2 ZNF143 DEK MXD4 REST MIER2 WFDC3 WFDC13 SPINT5P HNRNPA1P3 DNTTIP1 EPPIN EPPIN-WFDC6 WFDC6 ENSG00000232135 HSPD1P21
GH20G045765 1.1 ENCODE 10.3 -219.0 -218978 2.6 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 FOS PAF1 SP5 WFDC3 WFDC13 DNTTIP1 HNRNPA1P3 EPPIN EPPIN-WFDC6 ENSG00000232135 HSPD1P21 WFDC6 SPINT3
GH20G045773 1 dbSUPER 10.3 -227.6 -227646 2.6 HDGF FOXA2 ARNT MLX ARID4B DMAP1 YBX1 ZNF48 PAF1 SP5 WFDC3 UBE2C SNX21 TNNC2 EPPIN EPPIN-WFDC6 HSPD1P21 ENSG00000232135 WFDC6 GC20P045773
GH20G045546 0.5 ENCODE 0.7 +1.2 1160 0.2 CTCF ZNF654 SMC3 REST RAD21 EPPIN-WFDC6 HSPD1P21
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Genomic Location for EPPIN-WFDC6 Gene

Chromosome:
20
Start:
45,536,280 bp from pter
End:
45,547,426 bp from pter
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.
    • 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.

    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

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 Gene Families and 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: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

No data available for Enzyme Numbers (IUBMB) , 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.

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 EPPIN-WFDC6 gene
Compartment Confidence
extracellular 5
plasma membrane 4

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 IDA --
GO:0009986 cell surface IEA --
GO:0043234 protein complex IDA --
GO:0097524 sperm plasma membrane TAS --
genes like me logo Genes that share ontologies with EPPIN-WFDC6: view

Pathways & Interactions 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 IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0019730 antimicrobial humoral response TAS --
GO:0042742 defense response to bacterium IDA --
GO:0051259 protein oligomerization IDA --
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 :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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
ECgene alternative splicing isoforms for
EPPIN-WFDC6

Expression for EPPIN-WFDC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, 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.

Evidence on tissue expression from TISSUES for EPPIN-WFDC6 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with EPPIN-WFDC6: view

No data available for mRNA differential expression in normal 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 34
  • 97.93 (n)
-- 35
  • 97 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SPINLW1 34 35
  • 77.58 (n)
mouse
(Mus musculus)
Mammalia Eppin 34 16 35
  • 75.15 (n)
rat
(Rattus norvegicus)
Mammalia Eppin 34
  • 75 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 43 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 33 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 32 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
-- 35
  • 26 (a)
ManyToMany
-- 35
  • 25 (a)
ManyToMany
-- 35
  • 24 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3604 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R12A1.3 35
  • 18 (a)
OneToMany
Species where no ortholog for EPPIN-WFDC6 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for EPPIN-WFDC6 Gene

ENSEMBL:
Gene Tree for EPPIN-WFDC6 (if available)
TreeFam:
Gene Tree for EPPIN-WFDC6 (if available)

Paralogs for EPPIN-WFDC6 Gene

Paralogs for EPPIN-WFDC6 Gene

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

Variants for EPPIN-WFDC6 Gene

Sequence variations from dbSNP and Humsavar for EPPIN-WFDC6 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000113555 -- 45,542,069(+) TGGAG(C/T)ATCCG intron-variant, utr-variant-3-prime
rs1000310170 -- 45,546,404(+) ATTTT(G/T)TGAGA intron-variant
rs1000312325 -- 45,547,619(+) AAAGC(A/G)TGTCT upstream-variant-2KB
rs1000429870 -- 45,546,738(+) CAGCA(A/G)ATGAT intron-variant
rs1001416692 -- 45,541,372(+) TGCAC(A/G)TGTAT intron-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links 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 for EPPIN-WFDC6 Gene

Disorders for EPPIN-WFDC6 Gene

Relevant External Links for EPPIN-WFDC6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T. … Taylor T.D. (PLoS ONE 2010) 3 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  3. A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. (PMID: 12206714) Clauss A. … Lundwall A. (Biochem. J. 2002) 4 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 4 64

Products for EPPIN-WFDC6 Gene

Sources for EPPIN-WFDC6 Gene

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