APEH (acylaminoacyl-peptide hydrolase) - Rat Genome Database

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Gene: APEH (acylaminoacyl-peptide hydrolase) Homo sapiens
Analyze
Symbol: APEH
Name: acylaminoacyl-peptide hydrolase
RGD ID: 735668
HGNC Page HGNC:586
Description: Enables identical protein binding activity; omega peptidase activity; and serine-type endopeptidase activity. Involved in amyloid-beta metabolic process and proteolysis. Located in cytosol and nuclear membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AARE; ACPH; acyl-peptide hydrolase; acylamino-acid-releasing enzyme; acylaminoacyl-peptidase; APH; D3F15S2; D3S48E; DNF15S2; MGC2178; N-acylaminoacyl-peptide hydrolase; OPH; oxidized protein hydrolase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38349,673,117 - 49,683,971 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl349,674,014 - 49,683,971 (+)EnsemblGRCh38hg38GRCh38
GRCh37349,711,784 - 49,721,404 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,686,439 - 49,695,938 (+)NCBINCBI36Build 36hg18NCBI36
Build 34349,686,438 - 49,695,937NCBI
Celera349,676,127 - 49,685,626 (+)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef349,770,415 - 49,779,914 (+)NCBIHuRef
CHM1_1349,663,491 - 49,672,990 (+)NCBICHM1_1
T2T-CHM13v2.0349,702,408 - 49,713,255 (+)NCBIT2T-CHM13v2.0
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
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
atrazine  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbapenems  (EXP)
CGP 52608  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichlorvos  (EXP,ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
epoxiconazole  (ISO)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
lithium chloride  (EXP)
methimazole  (ISO)
mitomycin C  (EXP)
naled  (EXP,ISO)
nicotine  (EXP)
Nonylphenol  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
paraoxon  (ISO)
paraquat  (EXP)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
selenium atom  (EXP)
sulfadimethoxine  (ISO)
temozolomide  (EXP)
thapsigargin  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
Valproic acid glucuronide  (EXP)
vancomycin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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:1521574   PMID:1550126   PMID:1740429   PMID:1861871   PMID:2006156   PMID:2392324   PMID:2565880   PMID:8411161   PMID:8724851   PMID:10395453   PMID:10407158   PMID:10719179  
PMID:11921441   PMID:12000146   PMID:12477932   PMID:15489334   PMID:15862967   PMID:16169070   PMID:16189514   PMID:17241160   PMID:18029348   PMID:20307617   PMID:20458337   PMID:20529763  
PMID:21297633   PMID:21873635   PMID:21931648   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23533145   PMID:25416956   PMID:25437307   PMID:25544563   PMID:25921289   PMID:26344197  
PMID:26831064   PMID:27406852   PMID:27684187   PMID:28866241   PMID:28986522   PMID:29791485   PMID:30097533   PMID:30711629   PMID:31266814   PMID:31515488   PMID:31594818   PMID:32296183  
PMID:32687490   PMID:32807901   PMID:32814053   PMID:33144569   PMID:33471263   PMID:33545068   PMID:33753553   PMID:33957083   PMID:33961781   PMID:34745083   PMID:35032548   PMID:35256949  
PMID:35271311   PMID:35509820   PMID:35748872   PMID:35777956   PMID:35831314   PMID:35844135   PMID:35914814   PMID:35944360   PMID:35987950   PMID:36215168   PMID:36517590   PMID:36543142  
PMID:36634849   PMID:36898370   PMID:37827155  


Genomics

Comparative Map Data
APEH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38349,673,117 - 49,683,971 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl349,674,014 - 49,683,971 (+)EnsemblGRCh38hg38GRCh38
GRCh37349,711,784 - 49,721,404 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,686,439 - 49,695,938 (+)NCBINCBI36Build 36hg18NCBI36
Build 34349,686,438 - 49,695,937NCBI
Celera349,676,127 - 49,685,626 (+)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef349,770,415 - 49,779,914 (+)NCBIHuRef
CHM1_1349,663,491 - 49,672,990 (+)NCBICHM1_1
T2T-CHM13v2.0349,702,408 - 49,713,255 (+)NCBIT2T-CHM13v2.0
Apeh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399107,962,613 - 107,971,736 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9107,962,612 - 107,971,805 (-)EnsemblGRCm39 Ensembl
GRCm389108,085,413 - 108,094,490 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9108,085,413 - 108,094,606 (-)EnsemblGRCm38mm10GRCm38
MGSCv379107,987,745 - 107,996,811 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369107,943,514 - 107,952,552 (-)NCBIMGSCv36mm8
Celera9107,695,183 - 107,704,249 (-)NCBICelera
Cytogenetic Map9F1NCBI
cM Map959.07NCBI
Apeh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88117,652,390 - 117,661,502 (-)NCBIGRCr8
mRatBN7.28108,773,791 - 108,782,903 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8108,773,794 - 108,782,933 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8114,400,007 - 114,409,117 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08112,599,331 - 112,608,441 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08110,441,972 - 110,451,082 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08116,862,664 - 116,871,776 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8116,862,625 - 116,872,215 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08116,216,745 - 116,225,857 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48113,353,151 - 113,362,263 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18113,372,606 - 113,381,718 (-)NCBI
Celera8108,078,004 - 108,087,116 (-)NCBICelera
RH 3.4 Map81116.3RGD
Cytogenetic Map8q32NCBI
Apeh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555321,580,553 - 1,590,138 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555321,580,473 - 1,590,274 (+)NCBIChiLan1.0ChiLan1.0
APEH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2249,659,511 - 49,670,341 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1349,665,230 - 49,675,114 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0349,606,294 - 49,615,896 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1350,843,968 - 50,853,516 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl350,843,220 - 50,853,516 (+)Ensemblpanpan1.1panPan2
APEH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12039,587,316 - 39,596,324 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2039,587,279 - 39,596,228 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2039,508,241 - 39,517,291 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02039,944,841 - 39,953,890 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2039,944,843 - 39,953,810 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12039,311,923 - 39,320,973 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02039,715,279 - 39,724,328 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02039,995,110 - 40,004,158 (-)NCBIUU_Cfam_GSD_1.0
Apeh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560264,529,248 - 64,538,312 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365291,289,827 - 1,298,798 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365291,289,810 - 1,298,798 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APEH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1332,205,609 - 32,214,518 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11332,205,863 - 32,214,517 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21335,385,067 - 35,393,717 (+)NCBISscrofa10.2Sscrofa10.2susScr3
APEH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12211,067,966 - 11,078,258 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041155,922,305 - 155,931,881 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apeh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247303,601,714 - 3,612,048 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247303,601,792 - 3,612,048 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APEH
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3
pathogenic
NM_020998.3(MST1):c.848-2A>C single nucleotide variant Malignant melanoma [RCV000066123] Chr3:49686483 [GRCh38]
Chr3:49723916 [GRCh37]
Chr3:49698920 [NCBI36]
Chr3:3p21.31
not provided
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2
pathogenic
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31
likely pathogenic
NM_001640.4(APEH):c.1062G>T (p.Glu354Asp) single nucleotide variant Inborn genetic diseases [RCV003301370] Chr3:49678853 [GRCh38]
Chr3:49716286 [GRCh37]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001640.4(APEH):c.938G>T (p.Arg313Leu) single nucleotide variant Inborn genetic diseases [RCV003257058] Chr3:49676963 [GRCh38]
Chr3:49714396 [GRCh37]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001640.4(APEH):c.266G>C (p.Arg89Pro) single nucleotide variant Inborn genetic diseases [RCV003245813] Chr3:49675303 [GRCh38]
Chr3:49712736 [GRCh37]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1
pathogenic
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1 copy number loss not provided [RCV001259686] Chr3:48807193..51363558 [GRCh37]
Chr3:3p21.31-21.2
pathogenic
NC_000003.11:g.(?_48507870)_(50340407_?)del deletion Aicardi-Goutieres syndrome 1 [RCV001380369] Chr3:48507870..50340407 [GRCh37]
Chr3:3p21.31
pathogenic
NC_000003.11:g.(?_49547968)_(50685477_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001970206] Chr3:49547968..50685477 [GRCh37]
Chr3:3p21.31-21.2
pathogenic
NM_001640.4(APEH):c.1573C>G (p.Leu525Val) single nucleotide variant Inborn genetic diseases [RCV003305020] Chr3:49681937 [GRCh38]
Chr3:49719370 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.80G>T (p.Ser27Ile) single nucleotide variant Inborn genetic diseases [RCV003300604] Chr3:49674556 [GRCh38]
Chr3:49711989 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.1846A>T (p.Ile616Phe) single nucleotide variant Inborn genetic diseases [RCV002751800] Chr3:49682699 [GRCh38]
Chr3:49720132 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.2027G>A (p.Arg676Gln) single nucleotide variant Inborn genetic diseases [RCV003013038] Chr3:49683080 [GRCh38]
Chr3:49720513 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.1433A>C (p.Gln478Pro) single nucleotide variant Inborn genetic diseases [RCV002782178] Chr3:49681234 [GRCh38]
Chr3:49718667 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.727A>C (p.Asn243His) single nucleotide variant Inborn genetic diseases [RCV002919394] Chr3:49676498 [GRCh38]
Chr3:49713931 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.1724A>G (p.His575Arg) single nucleotide variant Inborn genetic diseases [RCV002955535] Chr3:49682577 [GRCh38]
Chr3:49720010 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.334A>C (p.Thr112Pro) single nucleotide variant Inborn genetic diseases [RCV002984711] Chr3:49675755 [GRCh38]
Chr3:49713188 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.1378G>A (p.Asp460Asn) single nucleotide variant Inborn genetic diseases [RCV002641262] Chr3:49681179 [GRCh38]
Chr3:49718612 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.1597C>A (p.Leu533Ile) single nucleotide variant Inborn genetic diseases [RCV002930908] Chr3:49681961 [GRCh38]
Chr3:49719394 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.1727T>G (p.Phe576Cys) single nucleotide variant Inborn genetic diseases [RCV002809890] Chr3:49682580 [GRCh38]
Chr3:49720013 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.2078G>A (p.Arg693Gln) single nucleotide variant Inborn genetic diseases [RCV002964469] Chr3:49683131 [GRCh38]
Chr3:49720564 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.1579A>C (p.Lys527Gln) single nucleotide variant Inborn genetic diseases [RCV002809505] Chr3:49681943 [GRCh38]
Chr3:49719376 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.401A>G (p.Asn134Ser) single nucleotide variant Inborn genetic diseases [RCV003277428] Chr3:49675925 [GRCh38]
Chr3:49713358 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.1162C>G (p.Leu388Val) single nucleotide variant Inborn genetic diseases [RCV003210082] Chr3:49679596 [GRCh38]
Chr3:49717029 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.815T>A (p.Ile272Asn) single nucleotide variant Inborn genetic diseases [RCV003204638] Chr3:49676679 [GRCh38]
Chr3:49714112 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.872A>C (p.Lys291Thr) single nucleotide variant Inborn genetic diseases [RCV003360417] Chr3:49676812 [GRCh38]
Chr3:49714245 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.229G>A (p.Val77Met) single nucleotide variant Inborn genetic diseases [RCV003385564] Chr3:49675266 [GRCh38]
Chr3:49712699 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.916C>T (p.Arg306Trp) single nucleotide variant Inborn genetic diseases [RCV003362109] Chr3:49676941 [GRCh38]
Chr3:49714374 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.567T>A (p.Asp189Glu) single nucleotide variant Inborn genetic diseases [RCV003369969] Chr3:49676180 [GRCh38]
Chr3:49713613 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_001640.4(APEH):c.561C>T (p.Ser187=) single nucleotide variant not provided [RCV003437848] Chr3:49676174 [GRCh38]
Chr3:49713607 [GRCh37]
Chr3:3p21.31
likely benign
NM_001640.4(APEH):c.1965G>A (p.Ser655=) single nucleotide variant not provided [RCV003437849] Chr3:49682924 [GRCh38]
Chr3:49720357 [GRCh37]
Chr3:3p21.31
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR30Ahsa-miR-30a-5pTarbaseexternal_infoProteomicsPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:5332
Count of miRNA genes:1079
Interacting mature miRNAs:1405
Transcripts:ENST00000296456, ENST00000438011, ENST00000442186, ENST00000446089, ENST00000447436, ENST00000447541, ENST00000449966, ENST00000457042, ENST00000462439, ENST00000463616, ENST00000463995, ENST00000469362, ENST00000480772, ENST00000482301, ENST00000483715, ENST00000491799
Prediction methods:Microtar, 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.

Markers in Region
WI-16108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,720,129 - 49,720,384UniSTSGRCh37
Build 36349,695,133 - 49,695,388RGDNCBI36
Celera349,684,821 - 49,685,076RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,779,109 - 49,779,364UniSTS
GeneMap99-GB4 RH Map3159.01UniSTS
Whitehead-RH Map3198.3UniSTS
GDB:181206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,712,678 - 49,713,841UniSTSGRCh37
Build 36349,687,682 - 49,688,845RGDNCBI36
Celera349,677,370 - 49,678,533RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,771,658 - 49,772,821UniSTS
GDB:512856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,712,679 - 49,713,841UniSTSGRCh37
Build 36349,687,683 - 49,688,845RGDNCBI36
Celera349,677,371 - 49,678,533RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,771,659 - 49,772,821UniSTS
APEH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,719,998 - 49,720,338UniSTSGRCh37
GRCh37349,713,510 - 49,713,922UniSTSGRCh37
Build 36349,688,514 - 49,688,926RGDNCBI36
Celera349,684,690 - 49,685,030UniSTS
Celera349,678,202 - 49,678,614RGD
HuRef349,772,490 - 49,772,902UniSTS
HuRef349,778,978 - 49,779,318UniSTS
APEH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,719,998 - 49,720,338UniSTSGRCh37
GRCh37349,713,510 - 49,713,922UniSTSGRCh37
Build 36349,688,514 - 49,688,926RGDNCBI36
Celera349,684,690 - 49,685,030UniSTS
Celera349,678,202 - 49,678,614RGD
HuRef349,772,490 - 49,772,902UniSTS
HuRef349,778,978 - 49,779,318UniSTS


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 pharyngeal arch
High
Medium 2436 2822 1719 618 1874 459 4357 2118 3511 416 1460 1612 175 1 1203 2788 6 2
Low 3 169 7 6 77 6 79 222 3 1 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000296456   ⟹   ENSP00000296456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,351 - 49,683,971 (+)Ensembl
RefSeq Acc Id: ENST00000438011   ⟹   ENSP00000415862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,367 - 49,683,342 (+)Ensembl
RefSeq Acc Id: ENST00000442186   ⟹   ENSP00000402365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,367 - 49,678,940 (+)Ensembl
RefSeq Acc Id: ENST00000446089   ⟹   ENSP00000410149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,360 - 49,679,645 (+)Ensembl
RefSeq Acc Id: ENST00000447436   ⟹   ENSP00000401871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,385 - 49,679,645 (+)Ensembl
RefSeq Acc Id: ENST00000447541   ⟹   ENSP00000404353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,675,694 - 49,678,935 (+)Ensembl
RefSeq Acc Id: ENST00000449966   ⟹   ENSP00000414369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,014 - 49,677,025 (+)Ensembl
RefSeq Acc Id: ENST00000457042   ⟹   ENSP00000410366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,486 - 49,677,025 (+)Ensembl
RefSeq Acc Id: ENST00000462439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,383 - 49,676,506 (+)Ensembl
RefSeq Acc Id: ENST00000463616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,486 - 49,676,232 (+)Ensembl
RefSeq Acc Id: ENST00000463995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,379 - 49,676,995 (+)Ensembl
RefSeq Acc Id: ENST00000469362   ⟹   ENSP00000438180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,678,911 - 49,682,945 (+)Ensembl
RefSeq Acc Id: ENST00000480772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,682,601 - 49,683,503 (+)Ensembl
RefSeq Acc Id: ENST00000482301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,676,670 - 49,680,280 (+)Ensembl
RefSeq Acc Id: ENST00000483715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,034 - 49,676,352 (+)Ensembl
RefSeq Acc Id: ENST00000491799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,674,362 - 49,676,516 (+)Ensembl
RefSeq Acc Id: NM_001640   ⟹   NP_001631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,674,351 - 49,683,971 (+)NCBI
GRCh37349,711,427 - 49,720,936 (+)NCBI
Build 36349,686,439 - 49,695,938 (+)NCBI Archive
HuRef349,770,415 - 49,779,914 (+)ENTREZGENE
CHM1_1349,663,491 - 49,672,990 (+)NCBI
T2T-CHM13v2.0349,703,635 - 49,713,255 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265097   ⟹   XP_005265154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,674,351 - 49,683,971 (+)NCBI
GRCh37349,711,427 - 49,720,936 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533658   ⟹   XP_011531960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,673,117 - 49,683,971 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006285   ⟹   XP_016861774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,673,117 - 49,683,971 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448065   ⟹   XP_047304021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,673,117 - 49,683,971 (+)NCBI
RefSeq Acc Id: XM_047448066   ⟹   XP_047304022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,675,695 - 49,683,971 (+)NCBI
RefSeq Acc Id: XM_054346407   ⟹   XP_054202382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0349,702,408 - 49,713,255 (+)NCBI
RefSeq Acc Id: XM_054346408   ⟹   XP_054202383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0349,702,472 - 49,713,255 (+)NCBI
RefSeq Acc Id: XM_054346409   ⟹   XP_054202384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0349,702,408 - 49,713,255 (+)NCBI
RefSeq Acc Id: XM_054346410   ⟹   XP_054202385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0349,704,979 - 49,713,255 (+)NCBI
RefSeq Acc Id: NP_001631   ⟸   NM_001640
- UniProtKB: Q9BQ33 (UniProtKB/Swiss-Prot),   Q9P0Y2 (UniProtKB/Swiss-Prot),   P13798 (UniProtKB/Swiss-Prot),   C9JIF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265154   ⟸   XM_005265097
- Peptide Label: isoform X4
- UniProtKB: C9JIF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531960   ⟸   XM_011533658
- Peptide Label: isoform X1
- UniProtKB: C9JIF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861774   ⟸   XM_017006285
- Peptide Label: isoform X3
- UniProtKB: C9JIF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000415862   ⟸   ENST00000438011
RefSeq Acc Id: ENSP00000296456   ⟸   ENST00000296456
RefSeq Acc Id: ENSP00000438180   ⟸   ENST00000469362
RefSeq Acc Id: ENSP00000402365   ⟸   ENST00000442186
RefSeq Acc Id: ENSP00000410366   ⟸   ENST00000457042
RefSeq Acc Id: ENSP00000410149   ⟸   ENST00000446089
RefSeq Acc Id: ENSP00000401871   ⟸   ENST00000447436
RefSeq Acc Id: ENSP00000404353   ⟸   ENST00000447541
RefSeq Acc Id: ENSP00000414369   ⟸   ENST00000449966
RefSeq Acc Id: XP_047304021   ⟸   XM_047448065
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047304022   ⟸   XM_047448066
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054202382   ⟸   XM_054346407
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054202384   ⟸   XM_054346409
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054202383   ⟸   XM_054346408
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054202385   ⟸   XM_054346410
- Peptide Label: isoform X5
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13798-F1-model_v2 AlphaFold P13798 1-732 view protein structure

Promoters
RGD ID:6864430
Promoter ID:EPDNEW_H5379
Type:initiation region
Name:APEH_2
Description:acylaminoacyl-peptide hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5380  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,673,992 - 49,674,052EPDNEW
RGD ID:6864432
Promoter ID:EPDNEW_H5380
Type:initiation region
Name:APEH_1
Description:acylaminoacyl-peptide hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5379  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,674,367 - 49,674,427EPDNEW
RGD ID:6800618
Promoter ID:HG_KWN:45046
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346415,   OTTHUMT00000346417,   OTTHUMT00000346418,   OTTHUMT00000346419,   OTTHUMT00000346420,   OTTHUMT00000346421,   OTTHUMT00000346422,   OTTHUMT00000346423,   OTTHUMT00000346424,   OTTHUMT00000346425,   OTTHUMT00000346426,   OTTHUMT00000346428,   UC010HKW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,685,796 - 49,686,852 (+)MPROMDB
RGD ID:6800608
Promoter ID:HG_KWN:45047
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346427
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,687,406 - 49,688,217 (+)MPROMDB
RGD ID:6800610
Promoter ID:HG_KWN:45048
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346429
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,688,261 - 49,689,582 (+)MPROMDB
RGD ID:6800611
Promoter ID:HG_KWN:45049
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346430,   OTTHUMT00000346431,   OTTHUMT00000346432
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,690,871 - 49,691,762 (+)MPROMDB
RGD ID:6800616
Promoter ID:HG_KWN:45050
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346434
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,692,841 - 49,694,032 (+)MPROMDB
RGD ID:6800615
Promoter ID:HG_KWN:45051
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346433
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,694,246 - 49,695,482 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:586 AgrOrtholog
COSMIC APEH COSMIC
Ensembl Genes ENSG00000164062 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296456 ENTREZGENE
  ENST00000296456.10 UniProtKB/Swiss-Prot
  ENST00000438011.5 UniProtKB/TrEMBL
  ENST00000442186.5 UniProtKB/TrEMBL
  ENST00000446089.5 UniProtKB/TrEMBL
  ENST00000447436.5 UniProtKB/TrEMBL
  ENST00000447541.5 UniProtKB/TrEMBL
  ENST00000449966.5 UniProtKB/TrEMBL
  ENST00000457042.1 UniProtKB/TrEMBL
  ENST00000469362.6 UniProtKB/TrEMBL
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164062 GTEx
HGNC ID HGNC:586 ENTREZGENE
Human Proteome Map APEH Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AARE_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_S9_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:327 UniProtKB/Swiss-Prot
NCBI Gene 327 ENTREZGENE
OMIM 102645 OMIM
PANTHER ACYLAMINO-ACID-RELEASING ENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE PEPTIDASE S9 FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam APEH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24878 PharmGKB
PROSITE PRO_ENDOPEP_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Peptidase/esterase 'gauge' domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACPH_HUMAN UniProtKB/Swiss-Prot
  C9JIF9 ENTREZGENE, UniProtKB/TrEMBL
  C9JLK2_HUMAN UniProtKB/TrEMBL
  F8WBC4_HUMAN UniProtKB/TrEMBL
  F8WEH5_HUMAN UniProtKB/TrEMBL
  H0YFE5_HUMAN UniProtKB/TrEMBL
  H7C1U0_HUMAN UniProtKB/TrEMBL
  H7C273_HUMAN UniProtKB/TrEMBL
  H7C393_HUMAN UniProtKB/TrEMBL
  P13798 ENTREZGENE
  Q9BQ33 ENTREZGENE
  Q9P0Y2 ENTREZGENE
UniProt Secondary Q9BQ33 UniProtKB/Swiss-Prot
  Q9P0Y2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-04 APEH  acylaminoacyl-peptide hydrolase  APEH  N-acylaminoacyl-peptide hydrolase  Symbol and/or name change 5135510 APPROVED