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EPPIN epididymal peptidase inhibitor [ Homo sapiens (human) ]

Gene ID: 57119, updated on 24-Nov-2020

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
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

Genomic context

See EPPIN in Genome Data Viewer
Location:
20q13.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45540626..45547401, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44169265..44176516, 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Readthrough EPPIN-WFDC6

Readthrough gene: EPPIN-WFDC6, Included gene: WFDC6

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001302861.2NP_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:3271
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
  2. NM_020398.4NP_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
    O95925
    Related
    ENSP00000361746.3, ENST00000354280.8
    Conserved Domains (2) summary
    pfam00014
    Location:76128
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam00095
    Location:3070
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    45540626..45547401 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.
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