EPPIN (epididymal peptidase inhibitor) - Rat Genome Database

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Gene: EPPIN (epididymal peptidase inhibitor) Homo sapiens
Analyze
Symbol: EPPIN
Name: epididymal peptidase inhibitor
RGD ID: 1315316
HGNC Page HGNC:15932
Description: Predicted to enable serine-type endopeptidase inhibitor activity. Involved in several processes, including negative regulation of calcium ion import; negative regulation of flagellated sperm motility; and negative regulation of peptidase activity. Located in cell surface and extracellular space. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cancer/testis antigen 71; cancer/testis antigen 72; CT71; CT72; dJ461P17.2; epididymal protease inhibitor; EPPIN1; EPPIN2; EPPIN3; protease inhibitor WAP7; serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin); serine protease inhibitor-like with Kunitz and WAP domains 1; serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin); SPINLW1; WAP four-disulfide core domain 7; WAP four-disulfide core domain protein 7; WAP7; WFDC7
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382045,540,626 - 45,547,401 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2045,540,626 - 45,547,752 (-)EnsemblGRCh38hg38GRCh38
GRCh372044,169,265 - 44,176,040 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,602,679 - 43,609,442 (-)NCBINCBI36Build 36hg18NCBI36
Build 342043,602,680 - 43,608,430NCBI
Celera2040,877,785 - 40,884,548 (-)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2040,910,738 - 40,917,538 (-)NCBIHuRef
CHM1_12044,071,829 - 44,078,629 (-)NCBICHM1_1
T2T-CHM13v2.02047,276,483 - 47,283,258 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11404006   PMID:11780052   PMID:12206714   PMID:12477932   PMID:12909348   PMID:15229136   PMID:15489334   PMID:15590901   PMID:16344560   PMID:17207965   PMID:17566290   PMID:17567961  
PMID:17644992   PMID:17928628   PMID:18331357   PMID:18466682   PMID:18645681   PMID:19801569   PMID:19889947   PMID:20005859   PMID:20158997   PMID:20488803   PMID:20505168   PMID:20800364  
PMID:21392882   PMID:21461566   PMID:21873635   PMID:22075473   PMID:22699487   PMID:24312623   PMID:24358212   PMID:25494938   PMID:28514442   PMID:28705940   PMID:33961781  


Genomics

Comparative Map Data
EPPIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382045,540,626 - 45,547,401 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2045,540,626 - 45,547,752 (-)EnsemblGRCh38hg38GRCh38
GRCh372044,169,265 - 44,176,040 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,602,679 - 43,609,442 (-)NCBINCBI36Build 36hg18NCBI36
Build 342043,602,680 - 43,608,430NCBI
Celera2040,877,785 - 40,884,548 (-)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2040,910,738 - 40,917,538 (-)NCBIHuRef
CHM1_12044,071,829 - 44,078,629 (-)NCBICHM1_1
T2T-CHM13v2.02047,276,483 - 47,283,258 (-)NCBIT2T-CHM13v2.0
Eppin
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392164,430,263 - 164,435,491 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2164,430,263 - 164,435,514 (-)EnsemblGRCm39 Ensembl
GRCm382164,588,343 - 164,593,571 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2164,588,343 - 164,593,594 (-)EnsemblGRCm38mm10GRCm38
MGSCv372164,413,843 - 164,419,071 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362164,279,548 - 164,284,776 (-)NCBIMGSCv36mm8
Celera2170,525,008 - 170,530,236 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.21NCBI
Eppin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83173,731,739 - 173,738,651 (-)NCBIGRCr8
mRatBN7.23153,312,396 - 153,319,310 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3153,312,396 - 153,319,310 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3157,122,394 - 157,129,304 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03165,621,354 - 165,628,265 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03163,364,985 - 163,371,894 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03161,043,761 - 161,050,550 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3161,041,727 - 161,050,557 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03167,222,870 - 167,229,659 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43155,607,326 - 155,614,193 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3151,921,822 - 151,928,632 (-)NCBICelera
Cytogenetic Map3q42NCBI
EPPIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22151,280,058 - 51,289,699 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12051,273,167 - 51,282,808 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02041,877,561 - 41,884,375 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12042,967,885 - 42,973,479 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2042,967,885 - 42,973,479 (-)Ensemblpanpan1.1panPan2
LOC119865675
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.02433,510,669 - 33,515,510 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12432,771,769 - 32,776,609 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02432,887,464 - 32,892,305 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02433,431,801 - 33,436,642 (-)NCBIUU_Cfam_GSD_1.0
Eppin
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640191,933,312 - 191,946,245 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365147,387,348 - 7,392,788 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365147,387,348 - 7,392,274 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_080827.1(WFDC6):c.4G>A (p.Gly2Arg) single nucleotide variant Malignant melanoma [RCV000072653] Chr20:45539404 [GRCh38]
Chr20:44168043 [GRCh37]
Chr20:43601457 [NCBI36]
Chr20:20q13.12		 not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1 copy number loss Developmental and epileptic encephalopathy, 26 [RCV001801198] Chr20:42985044..48599046 [GRCh37]
Chr20:20q13.12-13.13		 pathogenic
NC_000020.10:g.(?_42223339)_(44638757_?)del deletion Combined immunodeficiency due to STK4 deficiency [RCV003109483] Chr20:42223339..44638757 [GRCh37]
Chr20:20q13.12		 pathogenic
NC_000020.10:g.(?_42223339)_(45362473_?)del deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV004579451] Chr20:42223339..45362473 [GRCh37]
Chr20:20q13.12		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1300
Count of miRNA genes:679
Interacting mature miRNAs:757
Transcripts:ENST00000336443, ENST00000354280, ENST00000409554, ENST00000496898, ENST00000555685
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407190021GWAS838997_Hblood protein measurement QTL GWAS838997 (human)2e-15blood protein measurementblood protein measurement (CMO:0000028)204554207345542074Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001302861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF286368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF286369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF286370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL118493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF057305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA821702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC395362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000336443   ⟹   ENSP00000338114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,541,845 - 45,546,377 (-)Ensembl
Ensembl Acc Id: ENST00000354280   ⟹   ENSP00000361746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,540,626 - 45,547,401 (-)Ensembl
Ensembl Acc Id: ENST00000409554   ⟹   ENSP00000387153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,541,833 - 45,547,752 (-)Ensembl
Ensembl Acc Id: ENST00000496898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,541,845 - 45,547,357 (-)Ensembl
RefSeq Acc Id: NM_001302861   ⟹   NP_001289790
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,540,626 - 45,547,401 (-)NCBI
CHM1_12044,073,048 - 44,078,629 (-)NCBI
T2T-CHM13v2.02047,276,483 - 47,283,258 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020398   ⟹   NP_065131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,540,626 - 45,547,401 (-)NCBI
GRCh372044,169,265 - 44,176,516 (-)NCBI
Build 362043,602,679 - 43,609,442 (-)NCBI Archive
HuRef2040,910,738 - 40,917,538 (-)ENTREZGENE
CHM1_12044,071,829 - 44,078,629 (-)NCBI
T2T-CHM13v2.02047,276,483 - 47,283,258 (-)NCBI
Sequence:
RefSeq Acc Id: NP_065131   ⟸   NM_020398
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96SD7 (UniProtKB/Swiss-Prot),   Q86TP9 (UniProtKB/Swiss-Prot),   A6PVD6 (UniProtKB/Swiss-Prot),   Q9HD30 (UniProtKB/Swiss-Prot),   O95925 (UniProtKB/Swiss-Prot),   A0A384NYB9 (UniProtKB/TrEMBL),   B2R4Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289790   ⟸   NM_001302861
- Peptide Label: isoform 2 precursor
- UniProtKB: O95925 (UniProtKB/Swiss-Prot),   B2R4Q0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000338114   ⟸   ENST00000336443
Ensembl Acc Id: ENSP00000361746   ⟸   ENST00000354280
Ensembl Acc Id: ENSP00000387153   ⟸   ENST00000409554
Protein Domains
BPTI/Kunitz inhibitor   WAP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95925-F1-model_v2 AlphaFold O95925 1-133 view protein structure

Promoters
RGD ID:13207083
Promoter ID:EPDNEW_H27122
Type:initiation region
Name:EPPIN_1
Description:epididymal peptidase inhibitor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,547,401 - 45,547,461EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15932 AgrOrtholog
COSMIC EPPIN COSMIC
Ensembl Genes ENSG00000101448 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000249139 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000336443.3 UniProtKB/Swiss-Prot
  ENST00000354280 ENTREZGENE
  ENST00000354280.9 UniProtKB/Swiss-Prot
  ENST00000409554.1 UniProtKB/TrEMBL
  ENST00000504988.1 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.410.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.75.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101448 GTEx
  ENSG00000249139 GTEx
HGNC ID HGNC:15932 ENTREZGENE
Human Proteome Map EPPIN Human Proteome Map
InterPro Elafin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prtase_inh_Kunz-CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_venom_toxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100526773 UniProtKB/Swiss-Prot
  hsa:57119 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57119 ENTREZGENE
OMIM 609031 OMIM
PANTHER EPPIN UniProtKB/Swiss-Prot
  EPPIN UniProtKB/Swiss-Prot
  EPPIN UniProtKB/TrEMBL
  EPPIN UniProtKB/TrEMBL
Pfam Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38054 PharmGKB
PRINTS BASICPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BPTI_KUNITZ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPTI_KUNITZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NYB9 ENTREZGENE, UniProtKB/TrEMBL
  A6PVD6 ENTREZGENE
  B2R4Q0 ENTREZGENE, UniProtKB/TrEMBL
  B7ZBA9_HUMAN UniProtKB/TrEMBL
  EPPI_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86TP9 ENTREZGENE
  Q96SD7 ENTREZGENE
  Q9HD30 ENTREZGENE
UniProt Secondary A6PVD6 UniProtKB/Swiss-Prot
  Q86TP9 UniProtKB/Swiss-Prot
  Q96SD7 UniProtKB/Swiss-Prot
  Q9HD30 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-09-19 EPPIN  epididymal peptidase inhibitor  SPINLW1  serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)  Symbol and/or name change 5135510 APPROVED