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EPPIN epididymal peptidase inhibitor [ Homo sapiens (human) ]

Gene ID: 57119, updated on 2-Nov-2024

Summary

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Official Symbol
EPPINprovided by HGNC
Official Full Name
epididymal peptidase inhibitorprovided by HGNC
Primary source
HGNC:HGNC:15932
See related
Ensembl:ENSG00000101448 MIM:609031; AllianceGenome:HGNC:15932
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CT71; CT72; WAP7; WFDC7; SPINLW1; dJ461P17.2
Summary
This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Expression
Restricted expression toward testis (RPKM 44.7) See more
Orthologs
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Genomic context

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See EPPIN in Genome Data Viewer
Location:
20q13.12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45540626..45547401, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47276483..47283258, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44169265..44176040, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987282 Neighboring gene EPPIN-WFDC6 readthrough Neighboring gene WAP four-disulfide core domain 6 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 21 Neighboring gene WAP four-disulfide core domain 8 Neighboring gene RNA, 5S ribosomal pseudogene 485 Neighboring gene cyclin B1 interacting protein 1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The effect of anti-eppin antibodies on ionophore A23187-induced calcium influx and acrosome reaction of human spermatozoa. Zhang J, et al. Hum Reprod, 2010 Jan. PMID 19801569
  2. Cloning and sequencing of human Eppin: a novel family of protease inhibitors expressed in the epididymis and testis. Richardson RT, et al. Gene, 2001 May 30. PMID 11404006
  3. Antimicrobial activity of human EPPIN, an androgen-regulated, sperm-bound protein with a whey acidic protein motif. Yenugu S, et al. Biol Reprod, 2004 Nov. PMID 15229136
  4. Eppin: an epididymal protease inhibitor and a target for male contraception. O'Rand MG, et al. Soc Reprod Fertil Suppl, 2007. PMID 17566290
  5. Eppin: a molecular strategy for male contraception. Wang Z, et al. Soc Reprod Fertil Suppl, 2007. PMID 17644992

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. eppin plays a role outside of the reproductive tract; eppin may have a role in the innate immune response in the lung
    Title: Characterisation of eppin function: expression and activity in the lung.
  2. This antimicrobial peptide permeabilized outer and inner membranes of E. coli, consistent with its ability to induce striking morphological alterations of E. coli membranes. Has role in innate immune system of human epididymis.
    Title: Antimicrobial activity of human EPPIN, an androgen-regulated, sperm-bound protein with a whey acidic protein motif.
  3. Eppin and Fibronectin bind to each other in human semen and on human ejaculated spermatozoa.
    Title: Correlation of epididymal protease inhibitor and fibronectin in human semen.
  4. EPPIN and SEMG1 rapidly co-evolved in primates
    Title: Interacting proteins on human spermatozoa: adaptive evolution of the binding of semenogelin I to EPPIN.
  5. EPPIN's semenogelin I binding site: a contraceptive drug target.
    Title: Characterization of EPPIN's semenogelin I binding site: a contraceptive drug target.
  6. Letter: Eppin overexpression in prostate cancer correlates with favorable prognosis.
    Title: Eppin expression in prostate cancer.
  7. The expression of mouse EPPIN protein was detected in A1-A4 spermatogonia and the expression of human EPPIN was detected in type A spermatogonia as well as in the earliest preleptotene spermatocytes.
    Title: Distribution of Eppin in mouse and human testis.
  8. Different variants in the EPPIN gene are related to idiopathic male infertility and men carrying these variants have a decreased or increased risk of abnormal semen parameters associated with male infertility.
    Title: Variants of the EPPIN gene affect the risk of idiopathic male infertility in the Han-Chinese population.
  9. Genetic variants in the Eppin gene may be associated with semen quality.
    Title: Variants in the Eppin gene show association with semen quality in Han-Chinese population.
  10. Cysteine 239 of rSEMG1 appears to be the critical amino acid for both binding to eppin and inhibiting sperm motility.
    Title: Analysis of recombinant human semenogelin as an inhibitor of human sperm motility.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Readthrough EPPIN-WFDC6

Readthrough gene: EPPIN-WFDC6, Included gene: WFDC6

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in defense response to bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of calcium ion import IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
eppin
Names
WAP four-disulfide core domain protein 7
cancer/testis antigen 71
cancer/testis antigen 72
epididymal protease inhibitor
epididymis secretory sperm binding protein
protease inhibitor WAP7
serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001302861.2 → NP_001289790.1  eppin isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction in a 3' coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF286368, AK311906, AL031663, BF057305, DA821702
    UniProtKB/Swiss-Prot
    O95925
    UniProtKB/TrEMBL
    B2R4Q0
    Conserved Domains (1) summary
    pfam00095
    Location:32 → 71
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

  2. NM_020398.4 → NP_065131.1  eppin isoform 1 precursor

    See identical proteins and their annotated locations for NP_065131.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1), which is also known as eppin-1 and eppin-3.
    Source sequence(s)
    AF286370, DC395362
    Consensus CDS
    CCDS13359.1
    UniProtKB/Swiss-Prot
    A6PVD6, O95925, Q86TP9, Q96SD7, Q9HD30
    UniProtKB/TrEMBL
    A0A384NYB9, B2R4Q0
    Related
    ENSP00000361746.4, ENST00000354280.9
    Conserved Domains (2) summary
    pfam00014
    Location:76 → 128
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam00095
    Location:30 → 70
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    45540626..45547401 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    47276483..47283258 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181502.1: Suppressed sequence

    Description
    NM_181502.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95925.1 GenPept UniProtKB/Swiss-Prot:O95925

Gene LinkOut

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