EPPIN epididymal peptidase inhibitor [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45540626..45547401, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47276483..47283258, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44169265..44176040, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
EPPIN and SEMG1 rapidly co-evolved in primates
Title: Interacting proteins on human spermatozoa: adaptive evolution of the binding of semenogelin I to EPPIN.
EPPIN's semenogelin I binding site: a contraceptive drug target.
Title: Characterization of EPPIN's semenogelin I binding site: a contraceptive drug target.
Letter: Eppin overexpression in prostate cancer correlates with favorable prognosis.
Title: Eppin expression in prostate cancer.
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.
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.
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.
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)

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

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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peptidase activity	IBA Inferred from Biological aspect of Ancestor more info
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)

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'
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

45540626..45547401 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_181502.1: Suppressed sequence

Description

NM_181502.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.