ENPEP (glutamyl aminopeptidase) - Rat Genome Database
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Gene: ENPEP (glutamyl aminopeptidase) Homo sapiens
Analyze
Symbol: ENPEP
Name: glutamyl aminopeptidase
RGD ID: 732266
Description: Exhibits metalloaminopeptidase activity. Involved in cell migration; cell population proliferation; and regulation of systemic arterial blood pressure by renin-angiotensin. Localizes to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: aminopeptidase A; AP-A; APA; CD249; differentiation antigen gp160; EAP; glutamyl aminopeptidase (aminopeptidase A); gp160
Orthologs:
Mus musculus (house mouse) : Enpep (glutamyl aminopeptidase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Enpep (glutamyl aminopeptidase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Enpep (glutamyl aminopeptidase)
Pan paniscus (bonobo/pygmy chimpanzee) : ENPEP (glutamyl aminopeptidase)
Canis lupus familiaris (dog) : ENPEP (glutamyl aminopeptidase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Enpep (glutamyl aminopeptidase)
Sus scrofa (pig) : ENPEP (glutamyl aminopeptidase)
Chlorocebus sabaeus (African green monkey) : ENPEP (glutamyl aminopeptidase)
Heterocephalus glaber (naked mole-rat) : Enpep (glutamyl aminopeptidase)
more info ...
Related Pseudogenes: AC092001.1   LOC646797  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4110,365,733 - 110,565,285 (+)EnsemblGRCh38hg38GRCh38
GRCh384110,476,155 - 110,565,285 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374111,397,229 - 111,484,493 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364111,616,678 - 111,703,942 (+)NCBINCBI36hg18NCBI36
Build 344111,754,928 - 111,841,027NCBI
Celera4108,691,011 - 108,778,278 (+)NCBI
Cytogenetic Map4q25NCBI
HuRef4107,128,917 - 107,216,191 (+)NCBIHuRef
CHM1_14111,373,917 - 111,461,184 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-naphthylamine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
antirheumatic drug  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
buspirone  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cyclosporin A  (EXP,ISO)
dextran sulfate  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
felbamate  (ISO)
flutamide  (ISO)
fumonisin B1  (ISO)
glafenine  (ISO)
indole-3-methanol  (ISO)
L-ethionine  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
undecane  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1756856   PMID:2364374   PMID:8244382   PMID:8346219   PMID:8804068   PMID:9062131   PMID:9268642   PMID:10692253   PMID:11390025   PMID:12477932   PMID:12614948   PMID:14998491  
PMID:15048132   PMID:15489334   PMID:16335952   PMID:16344560   PMID:16790432   PMID:17603472   PMID:17850355   PMID:17897319   PMID:17990103   PMID:17999179   PMID:18029348   PMID:18188697  
PMID:18206321   PMID:18410507   PMID:18550936   PMID:18677709   PMID:19056867   PMID:19187443   PMID:19373777   PMID:19608358   PMID:20332099   PMID:20379614   PMID:21572416   PMID:21697726  
PMID:21873635   PMID:21886157   PMID:23376485   PMID:23533145   PMID:23888046   PMID:24098452   PMID:24885240   PMID:26311161   PMID:28177885   PMID:28514442   PMID:32199615  


Genomics

Comparative Map Data
ENPEP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4110,365,733 - 110,565,285 (+)EnsemblGRCh38hg38GRCh38
GRCh384110,476,155 - 110,565,285 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374111,397,229 - 111,484,493 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364111,616,678 - 111,703,942 (+)NCBINCBI36hg18NCBI36
Build 344111,754,928 - 111,841,027NCBI
Celera4108,691,011 - 108,778,278 (+)NCBI
Cytogenetic Map4q25NCBI
HuRef4107,128,917 - 107,216,191 (+)NCBIHuRef
CHM1_14111,373,917 - 111,461,184 (+)NCBICHM1_1
Enpep
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393129,062,826 - 129,126,398 (-)NCBI
GRCm383129,269,177 - 129,332,749 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3129,269,175 - 129,332,720 (-)EnsemblGRCm38mm10GRCm38
MGSCv373128,972,095 - 129,035,667 (-)NCBIGRCm37mm9NCBIm37
MGSCv363129,261,642 - 129,324,742 (-)NCBImm8
Celera3135,776,158 - 135,839,883 (-)NCBICelera
Cytogenetic Map3G3NCBI
cM Map357.92NCBI
Enpep
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02233,667,253 - 233,743,866 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2233,667,254 - 233,743,866 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02252,991,592 - 253,066,142 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42226,731,079 - 226,732,069 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12226,717,758 - 226,718,749 (-)NCBI
Celera2210,077,457 - 210,147,068 (-)NCBICelera
Cytogenetic Map2q42NCBI
Enpep
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545715,863,881 - 15,943,074 (-)NCBIChiLan1.0ChiLan1.0
ENPEP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14113,534,565 - 113,620,654 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4113,532,126 - 113,620,654 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04102,969,397 - 103,056,978 (+)NCBIMhudiblu_PPA_v0panPan3
ENPEP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3230,553,182 - 30,638,522 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13230,553,055 - 30,639,790 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Enpep
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365631,585,450 - 1,665,663 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENPEP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8111,748,514 - 111,858,510 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18111,765,839 - 111,858,349 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28119,968,866 - 120,060,970 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ENPEP
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl758,364,445 - 58,447,574 (+)Ensembl
ChlSab1.1758,363,816 - 58,448,231 (+)NCBI
Enpep
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248384,742,841 - 4,826,767 (+)NCBI

Position Markers
SHGC-59530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374111,483,039 - 111,483,292UniSTSGRCh37
Build 364111,702,488 - 111,702,741RGDNCBI36
Celera4108,776,824 - 108,777,077RGD
Cytogenetic Map4q25UniSTS
HuRef4107,214,737 - 107,214,990UniSTS
GeneMap99-GB4 RH Map4520.7UniSTS
RH121850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374111,401,846 - 111,402,144UniSTSGRCh37
Build 364111,621,295 - 111,621,593RGDNCBI36
Celera4108,695,627 - 108,695,925RGD
Cytogenetic Map4q25UniSTS
HuRef4107,133,533 - 107,133,831UniSTS
TNG Radiation Hybrid Map1123505.0UniSTS
G59643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374111,446,536 - 111,446,730UniSTSGRCh37
Build 364111,665,985 - 111,666,179RGDNCBI36
Celera4108,740,319 - 108,740,513RGD
Cytogenetic Map4q25UniSTS
HuRef4107,178,230 - 107,178,424UniSTS
TNG Radiation Hybrid Map468547.0UniSTS
ENPEP_3974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374111,482,642 - 111,483,548UniSTSGRCh37
Build 364111,702,091 - 111,702,997RGDNCBI36
Celera4108,776,427 - 108,777,333RGD
HuRef4107,214,340 - 107,215,246UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1588
Count of miRNA genes:876
Interacting mature miRNAs:1022
Transcripts:ENST00000265162, ENST00000502711, ENST00000504100, ENST00000509344, ENST00000510961
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 161 112 380 176 278 177 105 33 18 266 197 419 548 7 2
Low 2107 1861 1315 432 303 276 3666 2091 1979 128 961 1053 164 656 2486 3
Below cutoff 130 826 18 7 739 3 534 59 1679 16 256 50 6 1 293

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001379611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_166842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_166844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC017068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI640493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL568777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM888283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG400415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB070526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L12468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L14721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265162   ⟹   ENSP00000265162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,476,155 - 110,565,285 (+)Ensembl
RefSeq Acc Id: ENST00000502711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,549,428 - 110,553,517 (+)Ensembl
RefSeq Acc Id: ENST00000504100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,559,108 - 110,565,057 (+)Ensembl
RefSeq Acc Id: ENST00000509344   ⟹   ENSP00000426265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,513,489 - 110,533,427 (+)Ensembl
RefSeq Acc Id: ENST00000510961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,365,733 - 110,506,258 (+)Ensembl
RefSeq Acc Id: NM_001379611   ⟹   NP_001366540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,476,155 - 110,560,276 (+)NCBI
RefSeq Acc Id: NM_001379612   ⟹   NP_001366541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,476,155 - 110,554,918 (+)NCBI
RefSeq Acc Id: NM_001379613   ⟹   NP_001366542
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,476,155 - 110,565,285 (+)NCBI
RefSeq Acc Id: NM_001977   ⟹   NP_001968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,476,155 - 110,565,285 (+)NCBI
GRCh374111,397,229 - 111,484,493 (+)ENTREZGENE
Build 364111,616,678 - 111,703,942 (+)NCBI Archive
HuRef4107,128,917 - 107,216,191 (+)ENTREZGENE
CHM1_14111,373,917 - 111,461,184 (+)NCBI
Sequence:
RefSeq Acc Id: NR_166842
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,476,155 - 110,565,285 (+)NCBI
RefSeq Acc Id: NR_166844
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,476,155 - 110,565,285 (+)NCBI
RefSeq Acc Id: XM_017007877   ⟹   XP_016863366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,491,106 - 110,562,295 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001968   ⟸   NM_001977
- Peptide Label: isoform 1
- UniProtKB: Q07075 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863366   ⟸   XM_017007877
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001366542   ⟸   NM_001379613
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001366540   ⟸   NM_001379611
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001366541   ⟸   NM_001379612
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000426265   ⟸   ENST00000509344
RefSeq Acc Id: ENSP00000265162   ⟸   ENST00000265162
Protein Domains
ERAP1_C   Peptidase_M1

Promoters
RGD ID:6868278
Promoter ID:EPDNEW_H7304
Type:multiple initiation site
Name:ENPEP_1
Description:glutamyl aminopeptidase
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
GRCh384110,476,158 - 110,476,218EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
NM_001977.3(ENPEP):c.1488G>A (p.Glu496=) single nucleotide variant Malignant melanoma [RCV000066241] Chr4:110515421 [GRCh38]
Chr4:111436577 [GRCh37]
Chr4:111656026 [NCBI36]
Chr4:4q25
not provided
NM_001977.3(ENPEP):c.1755G>A (p.Trp585Ter) single nucleotide variant Malignant melanoma [RCV000066242] Chr4:110531225 [GRCh38]
Chr4:111452381 [GRCh37]
Chr4:111671830 [NCBI36]
Chr4:4q25
not provided
NM_001977.3(ENPEP):c.2400G>A (p.Trp800Ter) single nucleotide variant Malignant melanoma [RCV000066243] Chr4:110549785 [GRCh38]
Chr4:111470941 [GRCh37]
Chr4:111690390 [NCBI36]
Chr4:4q25
not provided
NM_001977.3(ENPEP):c.483C>T (p.Phe161=) single nucleotide variant Malignant melanoma [RCV000060894] Chr4:110476897 [GRCh38]
Chr4:111398053 [GRCh37]
Chr4:111617502 [NCBI36]
Chr4:4q25
not provided
NM_001977.3(ENPEP):c.855C>T (p.Tyr285=) single nucleotide variant Malignant melanoma [RCV000060895] Chr4:110491101 [GRCh38]
Chr4:111412257 [GRCh37]
Chr4:111631706 [NCBI36]
Chr4:4q25
not provided
NM_001977.3(ENPEP):c.1932C>T (p.Ser644=) single nucleotide variant Malignant melanoma [RCV000060896] Chr4:110542875 [GRCh38]
Chr4:111464031 [GRCh37]
Chr4:111683480 [NCBI36]
Chr4:4q25
not provided
NM_001977.3(ENPEP):c.1309-120T>C single nucleotide variant Lung cancer [RCV000093944] Chr4:110513295 [GRCh38]
Chr4:111434451 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25(chr4:111528916-111888401)x1 copy number loss Axenfeld-Rieger syndrome type 1 [RCV000416499] Chr4:111528916..111888401 [GRCh37]
Chr4:4q25
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25(chr4:111396948-111664814)x3 copy number gain not provided [RCV000743914] Chr4:111396948..111664814 [GRCh37]
Chr4:4q25
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001977.4(ENPEP):c.108C>T (p.Ala36=) single nucleotide variant not provided [RCV000961563] Chr4:110476522 [GRCh38]
Chr4:111397678 [GRCh37]
Chr4:4q25
benign
NM_001977.4(ENPEP):c.2583C>A (p.Ser861Arg) single nucleotide variant not provided [RCV000946807] Chr4:110553396 [GRCh38]
Chr4:111474552 [GRCh37]
Chr4:4q25
benign
NM_001977.4(ENPEP):c.94A>G (p.Ile32Val) single nucleotide variant not provided [RCV000961562] Chr4:110476508 [GRCh38]
Chr4:111397664 [GRCh37]
Chr4:4q25
benign
NM_001977.4(ENPEP):c.1194G>A (p.Gln398=) single nucleotide variant not provided [RCV000961564] Chr4:110509807 [GRCh38]
Chr4:111430963 [GRCh37]
Chr4:4q25
benign
NM_001977.4(ENPEP):c.1631A>T (p.Tyr544Phe) single nucleotide variant not provided [RCV000956246] Chr4:110520270 [GRCh38]
Chr4:111441426 [GRCh37]
Chr4:4q25
benign
GRCh37/hg19 4q25(chr4:111334313-113223858)x1 copy number loss not provided [RCV001259302] Chr4:111334313..113223858 [GRCh37]
Chr4:4q25
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3355 AgrOrtholog
COSMIC ENPEP COSMIC
Ensembl Genes ENSG00000138792 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265162 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000426265 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265162 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000509344 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.1730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138792 GTEx
HGNC ID HGNC:3355 ENTREZGENE
Human Proteome Map ENPEP Human Proteome Map
InterPro Aminopeptidase_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminopeptidase_N-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERAP1-like_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M1_APN-typ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2028 UniProtKB/Swiss-Prot
NCBI Gene 2028 ENTREZGENE
OMIM 138297 OMIM
PANTHER PTHR11533:SF242 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ERAP1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27790 PharmGKB
PRINTS ALADIPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ZINC_PROTEASE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF63737 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.435765 ENTREZGENE
UniProt AMPE_HUMAN UniProtKB/Swiss-Prot
  B0BCY7_HUMAN UniProtKB/TrEMBL
  B0BCY8_HUMAN UniProtKB/TrEMBL
  B0BCY9_HUMAN UniProtKB/TrEMBL
  B0BCZ0_HUMAN UniProtKB/TrEMBL
  B0BCZ1_HUMAN UniProtKB/TrEMBL
  B0BCZ2_HUMAN UniProtKB/TrEMBL
  B0BCZ3_HUMAN UniProtKB/TrEMBL
  B0BCZ4_HUMAN UniProtKB/TrEMBL
  B0BCZ5_HUMAN UniProtKB/TrEMBL
  B0BCZ6_HUMAN UniProtKB/TrEMBL
  B0BCZ7_HUMAN UniProtKB/TrEMBL
  H0YA67_HUMAN UniProtKB/TrEMBL
  L8E9Y3_HUMAN UniProtKB/TrEMBL
  Q07075 ENTREZGENE
UniProt Secondary Q504U2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 ENPEP  glutamyl aminopeptidase    glutamyl aminopeptidase (aminopeptidase A)  Symbol and/or name change 5135510 APPROVED