Human Gene EPPIN (ENST00000409554.1) Description and Page Index
  Description: Homo sapiens epididymal peptidase inhibitor (EPPIN), transcript variant 2, mRNA. (from RefSeq NM_001302861)
RefSeq Summary (NM_020398): 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].
Gencode Transcript: ENST00000409554.1
Gencode Gene: ENSG00000101448.13
Transcript (Including UTRs)
   Position: hg38 chr20:45,541,833-45,547,752 Size: 5,920 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr20:45,542,747-45,547,357 Size: 4,611 Coding Exon Count: 3 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr20:45,541,833-45,547,752)mRNA (may differ from genome)Protein (77 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  MalaCards Disease Associations
  MalaCards Gene Search: EPPIN
Diseases sorted by gene-association score: male infertility (9), infertility (9), orchitis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 61.38 RPKM in Testis
Total median expression: 62.43 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -135.00395-0.342 Picture PostScript Text
3' UTR -60.50369-0.164 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008197 - Whey_acidic_protein_4-diS_core

Pfam Domains:
PF00095 - WAP-type (Whey Acidic Protein) 'four-disulfide core'

ModBase Predicted Comparative 3D Structure on B7ZBA9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030414 peptidase inhibitor activity

Biological Process:
GO:0010466 negative regulation of peptidase activity

Cellular Component:
GO:0005576 extracellular region

-  Descriptions from all associated GenBank mRNAs
  AK301937 - Homo sapiens cDNA FLJ58958 complete cds, highly similar to Eppin precursor.
AF286370 - Homo sapiens eppin-3 (EPPIN) mRNA, complete cds, alternatively spliced.
GQ891395 - Homo sapiens clone HEL-S-65 epididymis secretory sperm binding protein mRNA, complete cds.
AF286369 - Homo sapiens eppin-2 (EPPIN) mRNA, complete cds, alternatively spliced.
AK126022 - Homo sapiens cDNA FLJ44034 fis, clone TESTI4028429, moderately similar to Eppin precursor.
AF286368 - Homo sapiens eppin-1 (EPPIN) mRNA, complete cds, alternatively spliced.
AX810710 - Sequence 34 from Patent EP1333092.
AX810725 - Sequence 49 from Patent EP1333092.
AL118493 - Novel human gene mapping to chomosome 20.
BC053369 - Homo sapiens serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin), mRNA (cDNA clone MGC:61444 IMAGE:5165509), complete cds.
BC044829 - Homo sapiens serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin), mRNA (cDNA clone MGC:34247 IMAGE:5171493), complete cds.
JD122413 - Sequence 103437 from Patent EP1572962.
JD087296 - Sequence 68320 from Patent EP1572962.
JD258336 - Sequence 239360 from Patent EP1572962.
JD268952 - Sequence 249976 from Patent EP1572962.
JD370933 - Sequence 351957 from Patent EP1572962.
JD159966 - Sequence 140990 from Patent EP1572962.
CU690968 - Synthetic construct Homo sapiens gateway clone IMAGE:100021255 5' read SPINLW1 mRNA.
HQ448506 - Synthetic construct Homo sapiens clone IMAGE:100071939; CCSB011827_02 serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin) (SPINLW1) gene, encodes complete protein.
KJ894392 - Synthetic construct Homo sapiens clone ccsbBroadEn_03786 SPINLW1 gene, encodes complete protein.
AK311906 - Homo sapiens cDNA, FLJ92172, highly similar to Homo sapiens serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin) (SPINLW1), mRNA.
BC003675 - Homo sapiens serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin), mRNA (cDNA clone IMAGE:3935656), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZBA9, B7ZBA9_HUMAN, NM_001302861, RP3-461P17.1-005, SPINLW1, uc061xij.1
UCSC ID: uc061xij.1
RefSeq Accession: NM_020398
Protein: B7ZBA9

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.